Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NAPA_chr19_47482637_47520063	47490451	TGTGGTGT others(49): Show TGTGGTGTGTGTAGTGTATGTTTGGTGTGTGTGGTGTGGTGTGATGTGTG TGGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00621.hp2 others(90): Show HG00323.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01256.hp2 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18942.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18966.hp1 NA18969.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA19009.hp2 NA19010.hp2 NA19055.hp2 NA19057.hp2 NA19064.hp2 NA19067.hp1 NA19074.hp2 NA19079.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0002t0007 a0001c0003t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(64): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0008g0013 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0010g0085 a0001c0002t0007g0252 a0001c0002t0007g0253 a0001c0002t0007g0254 a0001c0002t0007g0255 a0001c0003t0002g0131 a0001c0003t0002g0231	93	338	0.2752	-56	c.735 others(71): Show c.735+281_735+336delCACACCACACACATCACACCACACCACACA CACCAAACATACACTACACACACCAC	NAPA	ENSG00000105402.8	transcript	ENST00000263354.8	protein_coding	9/10			chr19	TogoVar
NAT14_chr19_55480188_55492566	55490050	CCCGAGGG others(49): Show CCCGAGGGGAGAGGGACTGCCCTGCCAACCCCCACCCAGCGTGCCCTCCT GCCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG02071.hp2 others(12): Show HG01109.hp2 HG01243.hp1 HG02071.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02717.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 NA19070.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0002c0002t0009	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0003g0001 a0001c0001t0006g0006 a0001c0001t0007g0001 a0001c0001t0009g0002 a0002c0002t0009g0002	15	420	0.0357	-56	c.30 others(67): Show c.3095_*3150delCCGAGGGGAGAGGGACTGCCCTGCCAACCCCCAC CCAGCGTGCCCTCCTGCCCCCA	NAT14	ENSG00000090971.5	transcript	ENST00000205194.5	protein_coding		2485		chr19	TogoVar
NAV3_chr12_77825894_78218010	78142679	ATGTGTAT others(49): Show ATGTGTATATATATACATATGTATGTGTATATATATACATATATATGTGT GTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02451.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0019 a0001c0019t0006 a0001c0001t0019 a0001c0019t0006	a0001c0001t0019g0166 a0001c0019t0006g0091 a0001c0001t0019g0166 a0001c0019t0006g0091	2	186	0.0108	-56	c.468 others(75): Show c.4683+2349_4683+2404delGTATATATATACATATGTATGTGTAT ATATATACATATATATGTGTGTGTGTGTGT	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	20/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCAPG2_chr7_158626169_158709804	158667607	CTCCTTAC others(49): Show CTCCTTACCTACCCTGTGGCCCTCCACCCTCTTACCCACTACTGGGTCCC TCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	378	0.0027	-56	c.148 others(75): Show c.1480-2913_1480-2858delAGGCGGAGGGACCCAGTAGTGGGTAA GAGGGTGGAGGGCCACAGGGTAGGTAAGGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667926	CTCCTTAC others(49): Show CTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGGTCCC TCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02647.hp1 HG03130.hp1 others(1): Show HG00639.hp1 HG02647.hp1 HG03130.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0211 a0001c0001t0001g0339 a0001c0001t0002g0100 others(1): Show a0001c0001t0001g0211 a0001c0001t0001g0339 a0001c0001t0002g0100 a0001c0001t0002g0123	4	378	0.0106	-56	c.148 others(75): Show c.1480-3232_1480-3177delAGGCGGAGGGACCCAGTAGTGGGTAA GAGGGTGGAGGGCCAGAGGGTAGGTAAGGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667956	CTTACCCA others(49): Show CTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCCACTACTGGGTCCCT CCGCCCT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	378	0.0027	-56	c.148 others(75): Show c.1480-3262_1480-3207delAGGGCGGAGGGACCCAGTAGTGGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCBP2L_chrX_107772733_107800829	107782194	TAAATATA others(49): Show TAAATATATATATATAAATATATATATAAATATATATATATAAATATATA TATATAA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	303	0.0033	-56	c.-73 others(73): Show c.-73+4338_-73+4393delAATATATATATATAAATATATATATAAA TATATATATATAAATATATATATATAAA	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCK1_chr3_136857208_136956606	136867093	TTTCTTTC others(49): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTGTTTCTTTCTTTCCTTCCTTCCT TCCTTCC	T T	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA20752.hp1 NA18994.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0120 a0001c0001t0001g0047 a0001c0001t0001g0120	2	232	0.0086	-56	c.-19 others(73): Show c.-19+4744_-19+4799delTTTCTTTCTTTCTTTCTTTCTTTGTTTC TTTCTTTCCTTCCTTCCTTCCTTCCTTC	NCK1	ENSG00000158092.7	transcript	ENST00000481752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCOR1_chr17_16024157_16220534	16127112	TATGTATA others(49): Show TATGTATATATCTGTATGTATATATACATGTATGTATATATCTGTATGTA TATATAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01106.hp2 others(27): Show HG00323.hp2 HG00741.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01433.hp2 HG01891.hp1 HG02015.hp2 HG02148.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02895.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03704.hp1 NA18522.hp1 NA18906.hp2 NA18947.hp2 NA18985.hp1 NA18995.hp2 NA19030.hp1 NA19062.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 others(1): Show a0001c0001 a0001c0003 a0001c0009 a0001c0011	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0026 a0001c0003t0003 a0001c0003t0023 a0001c0009t0010 a0001c0011t0014	a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0268 others(27): Show a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0268 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0267 a0001c0001t0004g0269 a0001c0001t0004g0271 a0001c0001t0010g0256 a0001c0001t0010g0257 a0001c0001t0013g0175 a0001c0001t0013g0176 a0001c0001t0015g0004 a0001c0001t0017g0272 a0001c0001t0026g0163 a0001c0003t0003g0266 a0001c0003t0003g0273 a0001c0003t0003g0274 a0001c0003t0003g0275 a0001c0003t0003g0276 a0001c0003t0023g0270 a0001c0009t0010g0258 a0001c0011t0014g0280	30	282	0.1064	-56	c.151 others(73): Show c.1510-962_1510-907delGTATATATACATACAGATATATACATAC ATGTATATATACATACAGATATATACAT	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	14/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16127203	ATGTATAT others(49): Show ATGTATATATCTGTATGTATATATACATGTATGCATATATGTATGTATAT ATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG03130.hp2 HG01109.hp1 HG01884.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0024	3	282	0.0106	-56	c.151 others(74): Show c.1510-1053_1510-998delCACACATATATACATACATATATGCAT ACATGTATATATACATACAGATATATACA	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	14/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16127293	GTATGTAT others(49): Show GTATGTATGTATATATACATGTATGTATATATGTATGTATATATACATGT ATGTATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG03453.hp1 HG02451.hp1 HG02723.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0024 a0001c0001t0012 a0001c0001t0024	a0001c0001t0012g0028 a0001c0001t0012g0029 a0001c0001t0024g0129 a0001c0001t0012g0028 a0001c0001t0012g0029 a0001c0001t0024g0129	3	282	0.0106	-56	c.151 others(75): Show c.1510-1143_1510-1088delTATACATACATGTATATATACATACA TATATACATACATGTATATATACATACATA	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	14/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16127546	TATACACA others(49): Show TATACACATGTGTATATATGTATGTATATATACATATGTGTATATATGTA TGTATAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp1 HG02027.hp1 others(5): Show HG00408.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02083.hp1 HG02523.hp2 NA18949.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0198 a0001c0001t0002g0199 others(5): Show a0001c0001t0002g0180 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0236 a0001c0001t0002g0246	8	282	0.0284	-56	c.151 others(75): Show c.1510-1396_1510-1341delGTATACATACATATATACACATATGT ATATATACATACATATATACACATGTGTAT	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	14/45			chr17	TogoVar
NCR3LG1_chr11_17346800_17382341	17362679	CCTTCCTT others(49): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0032 a0003c0003t0032	a0003c0003t0032g0099 a0003c0003t0032g0099	1	380	0.0026	-56	c.422 others(73): Show c.422-4326_422-4271delCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTT	NCR3LG1	ENSG00000188211.9	transcript	ENST00000338965.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
NFASC_chr1_204823652_205027822	204877025	TATAATAT others(49): Show TATAATATATATTTATATATATATAATATATTTATTTATATATTTATATA TATATAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp2 NA18951.hp2 others(6): Show HG02572.hp2 HG02717.hp2 NA18951.hp2 NA18955.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19030.hp2 NA19065.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0012 a0013	a0001c0001 a0001c0002 a0002c0013 others(3): Show a0001c0001 a0001c0002 a0002c0013 a0004c0011 a0012c0044 a0013c0045	a0001c0001t0001 a0001c0002t0003 a0002c0013t0001 others(3): Show a0001c0001t0001 a0001c0002t0003 a0002c0013t0001 a0004c0011t0017 a0012c0044t0013 a0013c0045t0013	a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0058 others(6): Show a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0058 a0001c0002t0003g0009 a0002c0013t0001g0022 a0004c0011t0017g0018 a0004c0011t0017g0019 a0012c0044t0013g0010 a0013c0045t0013g0015	9	226	0.0398	-56	c.-19 others(77): Show c.-199-43606_-199-43551delATAATATATATTTATATATATATA ATATATTTATTTATATATTTATATATATATAA	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29			chr1	TogoVar
NFASC_chr1_204823652_205027822	204877026	ATAATATA others(49): Show ATAATATATATTTATATATATATAATATATTTATTTATATATTTATATAT ATATAAT	A A	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	226	0.0044	-56	c.-19 others(77): Show c.-199-43605_-199-43550delTAATATATATTTATATATATATAA TATATTTATTTATATATTTATATATATATAAT	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29			chr1	TogoVar
NFASC_chr1_204865862_205027822	204877025	TATAATAT others(49): Show TATAATATATATTTATATATATATAATATATTTATTTATATATTTATATA TATATAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 NA18951.hp1 others(7): Show HG02572.hp2 HG02717.hp1 NA18951.hp1 NA18955.hp1 NA18983.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19065.hp1 NA19075.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0008c0023 a0009c0018	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0004t0001 a0001c0005t0019 a0008c0023t0011 a0009c0018t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0002t0001g0190 others(6): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0002t0001g0190 a0001c0002t0004g0216 a0001c0004t0001g0003 a0001c0005t0019g0211 a0001c0005t0019g0212 a0008c0023t0011g0189 a0009c0018t0001g0188	10	264	0.0379	-56	c.-91 others(73): Show c.-91+5956_-91+6011delATAATATATATTTATATATATATAATAT ATTTATTTATATATTTATATATATATAA	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27			chr1	TogoVar
NFASC_chr1_204865862_205027822	204877026	ATAATATA others(49): Show ATAATATATATTTATATATATATAATATATTTATTTATATATTTATATAT ATATAAT	A A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	264	0.0038	-56	c.-91 others(73): Show c.-91+5957_-91+6012delTAATATATATTTATATATATATAATATA TTTATTTATATATTTATATATATATAAT	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27			chr1	TogoVar
NFX1_chr9_33285516_33376157	33352332	GCTAGGCC others(49): Show GCTAGGCCACAGTTGGGCCTAGGGCAAGTGTCTGTCTCTGATGGTACAAA CTTCATC	G G	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	300	0.0033	-56	c.265 others(73): Show c.2656-306_2656-251delACAGTTGGGCCTAGGGCAAGTGTCTGTC TCTGATGGTACAAACTTCATCCTAGGCC	NFX1	ENSG00000086102.19	transcript	ENST00000379540.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr9	TogoVar
NHSL1_chr6_138417043_138504494	138437329	CATATATA others(49): Show CATATATATATATACACATATATATATACACATATATATATATACACATA TATATAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0016 a0001c0010t0016	a0001c0010t0016g0237 a0001c0010t0016g0237	1	332	0.0030	-56	c.665 others(73): Show c.665-3705_665-3650delATATATATATGTGTATATATATATATGT GTATATATATATGTGTATATATATATAT	NHSL1	ENSG00000135540.12	transcript	ENST00000343505.10	protein_coding	5/7			chr6	TogoVar
NHSL1_chr6_138417043_138504494	138489896	GGGAGAGA others(49): Show GGGAGAGAGCGAGAGGGGGAGAGGGGGAGGGGGAGACAGGGGGAGAGAGG GAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01934.hp1 HG02148.hp2 others(1): Show HG01255.hp2 HG01934.hp1 HG02148.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0020 a0001c0001 a0001c0002 a0001c0020	a0001c0001t0003 a0001c0002t0002 a0001c0020t0048 others(1): Show a0001c0001t0003 a0001c0002t0002 a0001c0020t0048 a0001c0020t0049	a0001c0001t0003g0231 a0001c0002t0002g0232 a0001c0020t0048g0103 others(1): Show a0001c0001t0003g0231 a0001c0002t0002g0232 a0001c0020t0048g0103 a0001c0020t0049g0104	4	332	0.0121	-56	c.211 others(73): Show c.211+6267_211+6322delTTCTCTCCCTCTCTCCCCCTGTCTCCCC CTCCCCCTCTCCCCCTCTCGCTCTCTCC	NHSL1	ENSG00000135540.12	transcript	ENST00000343505.10	protein_coding	2/7			chr6	TogoVar
NKX1-2_chr10_124440243_124455035	124454146	GGGCTGAT others(49): Show GGGCTGATAACACTATCCAAGACAATGTTCACTATCCGTGCAGACAGCTG AGATATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0007 a0004c0005t0003g0007	1	446	0.0022	-56	c.-42 others(67): Show c.-4259_-4204delAATATCTCAGCTGTCTGCACGGATAGTGAACATT GTCTTGGATAGTGTTATCAGCC	NKX1-2	ENSG00000229544.9	transcript	ENST00000451024.5	protein_coding		4112		chr10	TogoVar
NLGN4X_chrX_5885042_6233867	5925851	CATATATA others(49): Show CATATATATATATATATATATACATACACACATATATATATATATATATA TATATAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0052 a0001c0003t0008g0052	1	128	0.0078	-56	c.626 others(75): Show c.626-16668_626-16613delATATATATATATATATATATATATAT GTGTGTATGTATATATATATATATATATAT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5			chrX	TogoVar
NLRP11_chr19_55780399_55836999	55821608	AAACCCAT others(49): Show AAACCCATTAACATTGTTAGTGATGGGAGAACCCATTAACATTGTTAGTG ATGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01167.hp2 others(9): Show HG00140.hp1 HG00735.hp2 HG01167.hp2 HG01169.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG02148.hp1 HG02559.hp2 HG02738.hp1 HG02970.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008	a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0008t0001 a0001c0008t0004	a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0005g0374 others(9): Show a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0005g0374 a0001c0001t0005g0375 a0001c0003t0002g0376 a0001c0003t0003g0095 a0001c0003t0003g0096 a0001c0003t0003g0289 a0001c0004t0001g0040 a0001c0008t0001g0253 a0001c0008t0001g0255 a0001c0008t0004g0254	12	444	0.0270	-56	c.-62 others(73): Show c.-62-3428_-62-3373delCTCCCATCACTAACAATGTTAATGGGTT CTCCCATCACTAACAATGTTAATGGGTT	NLRP11	ENSG00000179873.14	transcript	ENST00000589093.6	protein_coding	1/9			chr19	TogoVar
NME8_chr7_37843597_37905397	37847992	GGAGGAAG others(49): Show GGAGGAAGAGGGAGAGGAAGAAGAGGAAGAGGAAGAGGAAGAAGAAGAGA AAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	388	0.0026	-56	c.-97 others(65): Show c.-976_-921delGAGGAAGAGGGAGAGGAAGAAGAGGAAGAGGAAGAG GAAGAAGAAGAGAAAGAAGA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		604		chr7	TogoVar
NME8_chr7_37843597_37905397	37848232	AGAAGAAG others(49): Show AGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAACAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	388	0.0026	-56	c.-73 others(65): Show c.-736_-681delGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAACAAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		364		chr7	TogoVar
NOL4L_chr20_32438059_32590333	32488769	TCCTTCCT others(49): Show TCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTTTCTTTCTTTCT TTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0189 a0001c0002t0032g0189	1	196	0.0051	-56	c.700 others(75): Show c.700-14083_700-14028delGAAAGAAAGAAAGAAAGAAAAAGAAA GAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32488774	CCTTCCTT others(49): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTT TCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02970.hp1 HG03225.hp1 others(3): Show HG00140.hp2 HG02970.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0035 a0001c0001t0003g0003 a0001c0001t0003g0007 others(3): Show a0001c0001t0001g0035 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0131 a0001c0001t0003g0168 a0001c0001t0004g0150	6	196	0.0306	-56	c.700 others(75): Show c.700-14088_700-14033delAAAAAGAAAGAAAGAAAGAAAGAAAA AGAAAGAAAGAAAGGAAGGAAGGAAGGAAG	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32488778	CCTTCCTT others(49): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT TTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02257.hp1 HG00323.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0179 a0001c0001t0031g0019 a0001c0001t0001g0179 a0001c0001t0031g0019	2	196	0.0102	-56	c.700 others(75): Show c.700-14092_700-14037delAAAGAAAAAGAAAGAAAGAAAGAAAG AAAAAGAAAGAAAGAAAGGAAGGAAGGAAG	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOP14_chr4_2932936_2968406	2955432	GCCCTCTA others(49): Show GCCCTCTAGTCACCTGCACCACAGCGCCCCCTCTAGTCACCTGCACGCCA CGGCGCC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19009.hp1 HG02717.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0026 a0001c0001t0001 a0002c0002t0026	a0001c0001t0001g0097 a0002c0002t0026g0067 a0001c0001t0001g0097 a0002c0002t0026g0067	2	422	0.0047	-56	c.473 others(71): Show c.473-925_473-870delGGCGCCGTGGCGTGCAGGTGACTAGAGGGG GCGCTGTGGTGCAGGTGACTAGAGGG	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	3/17			chr4	TogoVar
NOS3_chr7_150986017_151019588	151018672	CCACGGCT others(49): Show CCACGGCTAGCACGTCCTCGTCGTAGACGGTGAGCACAAGCAGCGCGGCG AAGAGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0093 a0003c0006t0001g0093	1	382	0.0026	-56	c.45 others(67): Show c.4504_*4559delCACGGCTAGCACGTCCTCGTCGTAGACGGTGAGC ACAAGCAGCGCGGCGAAGAGTG	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding		4085		chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136524957	ACCTCAGG others(49): Show ACCTCAGGCTGAGACTGCAATGGGGATGGGACATCTCATGTCAAGATCGC ACTGGGG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0197 a0001c0001t0007g0197	1	324	0.0031	-56	c.141 others(72): Show c.141-1034_141-979delCCCCAGTGCGATCTTGACATGAGATGTCC CATCCCCATTGCAGTCTCAGCCTGAGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPAS3_chr14_32933879_33809173	33087115	ATAGTATA others(49): Show ATAGTATACAATATAATATTGTATAATAATATAGTATACAATATAATATT GTATAAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01496.hp1 HG01884.hp2 others(14): Show HG00738.hp1 HG01496.hp1 HG01884.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03195.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(14): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0030 a0001c0001t0042 a0001c0001t0045 a0001c0001t0054 a0001c0001t0057 a0001c0003t0001 a0001c0003t0043 a0001c0003t0059 a0002c0002t0001 a0002c0002t0031	a0001c0001t0002g0038 a0001c0001t0004g0012 a0001c0001t0006g0041 others(14): Show a0001c0001t0002g0038 a0001c0001t0004g0012 a0001c0001t0006g0041 a0001c0001t0007g0087 a0001c0001t0010g0055 a0001c0001t0014g0080 a0001c0001t0019g0073 a0001c0001t0030g0029 a0001c0001t0042g0070 a0001c0001t0045g0090 a0001c0001t0054g0043 a0001c0001t0057g0037 a0001c0003t0001g0039 a0001c0003t0043g0091 a0001c0003t0059g0049 a0002c0002t0001g0056 a0002c0002t0031g0077	17	92	0.1848	-56	c.140 others(75): Show c.140+31122_140+31177delTAGTATACAATATAATATTGTATAAT AATATAGTATACAATATAATATTGTATAAT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	2/11			chr14	TogoVar
NPHP4_chr1_5857811_5997425	5973172	ACTGCACC others(49): Show ACTGCACCCGGCCTCAATTTGTAGTCTTTTATCCCTCACCCTCTAGGATC AAGGAGT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0055 a0001c0003t0001g0055	1	208	0.0048	-56	c.280 others(73): Show c.280-3969_280-3914delACTCCTTGATCCTAGAGGGTGAGGGATA AAAGACTACAAATTGAGGCCGGGTGCAG	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NPIPB7_chr16_28451329_28477336	28470596	GAGGGGAA others(49): Show GAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAAGGG GAGGGGA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0050 a0004c0004t0050	a0004c0004t0050g0155 a0004c0004t0050g0155	1	382	0.0026	-56	c.-21 others(65): Show c.-214_-159delTCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCTTCC CCTCCCCTTCCCCTTCCCCT	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	1/7	159		chr16	TogoVar
NPY4R2_chr10_47913662_47928524	47918367	GAGAGAGA others(49): Show GAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01070.hp1 HG01109.hp1 others(5): Show HG00639.hp1 HG01070.hp1 HG01109.hp1 HG01256.hp1 HG01517.hp1 HG02523.hp1 NA20752.hp1 NA20905.hp2	a0001 a0011 a0001 a0011	a0001c0004 a0011c0013 a0001c0004 a0011c0013	a0001c0004t0004 a0011c0013t0004 a0001c0004t0004 a0011c0013t0004	a0001c0004t0004g0009 a0001c0004t0004g0010 a0011c0013t0004g0009 a0001c0004t0004g0009 a0001c0004t0004g0010 a0011c0013t0004g0009	8	276	0.0290	-56	c.-79 others(65): Show c.-790_-735delAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAA	NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding		294		chr10	TogoVar
NR0B1_chrX_30299206_30314390	30301282	AGAAGGGA others(49): Show AGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGG GAGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG01243.hp1 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0067 a0001c0002t0001g0021 a0001c0002t0001g0067	2	322	0.0062	-56	c.32 others(67): Show c.3241_*3296delCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTC	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		2923		chrX	TogoVar
NRXN1_chr2_49913503_51037132	50329601	GTGTGTGT others(49): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATAT ATATATA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03130.hp1 HG02717.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0056 a0001c0002t0006 a0001c0001t0056 a0001c0002t0006	a0001c0001t0056g0049 a0001c0002t0006g0108 a0001c0001t0056g0049 a0001c0002t0006g0108	2	116	0.0172	-56	c.336 others(77): Show c.3365-92687_3365-92632delTATATATATATATATATATATATA TATATATATATATATACACACACACACACACA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NSD2_chr4_1866393_1987192	1985482	TCCCACCA others(49): Show TCCCACCAGCCCTGCCTGACGGGACACTGAGGCACAGGGTTGAGGAGGAC TCCCCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	130	0.0077	-56	c.65 others(67): Show c.6574_*6629delCCCACCAGCCCTGCCTGACGGGACACTGAGGCAC AGGGTTGAGGAGGACTCCCCTG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding		3291		chr4	TogoVar
NSMCE1_chr16_27219994_27273772	27228495	GCCTCCCC others(49): Show GCCTCCCCTCCAGATCCATCACGGCACCCCACCTCCTTGGCCCCCACCCT CTTCCAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp1 HG02145.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	334	0.0060	-56	c.484 others(73): Show c.484-1715_484-1660delGTGGAAGAGGGTGGGGGCCAAGGAGGTG GGGTGCCGTGATGGATCTGGAGGGGAGG	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	5/7			chr16	TogoVar
NSMF_chr9_137442570_137464334	137451338	CCCTCGTC others(49): Show CCCTCGTCTCTTCCCCTTGATCTCCCCCGCCACGTCTCTTCCCCTTGATC TCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02145.hp1 HG02698.hp1 others(5): Show HG01070.hp2 HG02145.hp1 HG02698.hp1 HG03130.hp2 HG03579.hp2 NA18966.hp1 NA18966.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0001 a0001c0001t0003 a0001c0001t0020	a0001c0001t0001g0039 a0001c0001t0001g0070 a0001c0001t0001g0093 others(4): Show a0001c0001t0001g0039 a0001c0001t0001g0070 a0001c0001t0001g0093 a0001c0001t0001g0143 a0001c0001t0003g0129 a0001c0001t0003g0135 a0001c0001t0020g0159	8	414	0.0193	-56	c.123 others(74): Show c.1236+971_1236+1026delCGGGGGAGATCAAGGGGAAGAGACGTG GCGGGGGAGATCAAGGGGAAGAGACGAGG	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
NUDT19_chr19_32686821_32718792	32712369	ACCCAGCC others(49): Show ACCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTGTCTC ACTCTTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02647.hp1 HG02109.hp2 HG02630.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0153 a0001c0001t0017g0154 a0001c0001t0017g0155 a0001c0001t0017g0153 a0001c0001t0017g0154 a0001c0001t0017g0155	3	406	0.0074	-56	c.41 others(65): Show c.418_*473delCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAG AGTGTCTCACTCTTGCCCAG	NUDT19	ENSG00000213965.4	transcript	ENST00000397061.4	protein_coding	3/3	418	INFO_REALIGN_3_PRIME	chr19	TogoVar
NUMB_chr14_73270216_73463546	73352453	CACACATA others(49): Show CACACATACACACACACACACACACATATATATATATATATATATATATA TATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0256 a0001c0001t0005g0256	1	322	0.0031	-56	c.126 others(73): Show c.126+3117_126+3172delATATATATATATATATATATATATATAT ATATGTGTGTGTGTGTGTGTGTATGTGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352455	CACATACA others(49): Show CACATACACACACACACACACACATATATATATATATATATATATATATA TATATAT	C C	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0054 a0001c0001t0013g0054	1	322	0.0031	-56	c.126 others(73): Show c.126+3115_126+3170delATATATATATATATATATATATATATAT ATATATGTGTGTGTGTGTGTGTGTATGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NXNL1_chr19_17450425_17465926	17463909	GAGAAGAA others(49): Show GAGAAGAAGAAGAAAAGAAGAAGAAGAAAAGAAGAAGAAGAAGAAGAAGA AAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG04204.hp1 HG00280.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0092 a0001c0001t0002g0009 a0001c0001t0002g0092	2	408	0.0049	-56	c.-30 others(67): Show c.-3096_-3041delTCTTCTTTCTTCTTCTTCTTCTTCTTCTTTTCTT CTTCTTCTTTTCTTCTTCTTCT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2984		chr19	TogoVar
NXN_chr17_794310_984776	948826	GGCCTCCT others(49): Show GGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTC TCCCCCT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG01243.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0003 a0001c0009t0013 a0001c0001t0003 a0001c0009t0013	a0001c0001t0003g0227 a0001c0009t0013g0196 a0001c0001t0003g0227 a0001c0009t0013g0196	2	242	0.0083	-56	c.360 others(75): Show c.360+30437_360+30492delAGGGGGAGAGGAGGAGGCCGCGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OCA2_chr15_27749875_28104315	28054020	GTATATAT others(49): Show GTATATATGTATGTGTATAAATATGTGCATGTATATATGTGGGCATGTGT AAGTGCA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0002 a0001c0014t0001g0002	1	110	0.0091	-56	c.228 others(75): Show c.228-21913_228-21858delTGCACTTACACATGCCCACATATATA CATGCACATATTTATACACATACATATATA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	2/23			chr15	TogoVar
ODAD3_chr19_11415605_11440121	11425093	GTGTATAT others(49): Show GTGTATATATGTATATATGTGTATATGTACATATGTGTATATGTGTATAT GTACATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	398	0.0025	-56	c.963 others(72): Show c.963+995_963+1050delTATGTACATATACACATATACACATATGT ACATATACACATATATACATATATACA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
OPTN_chr10_13095163_13143308	13115452	CTATATTA others(49): Show CTATATTATATAATATAGAATATATATAATATATTCTATATTATATAATA TAGAATA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0051 a0001c0006t0006g0051	1	418	0.0024	-56	c.553 others(71): Show c.553-809_553-754delTATATAATATAGAATATATATAATATATTC TATATTATATAATATAGAATATATAT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OR2B6_chr6_27952241_27963182	27955772	ACTGTAGA others(49): Show ACTGTAGAATAAGTGAGCAAAATTGAAATACATATTGAATAATAGTTTAA AATTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-56	c.-14 others(67): Show c.-1468_-1413delCTGTAGAATAAGTGAGCAAAATTGAAATACATAT TGAATAATAGTTTAAAATTTAT	OR2B6	ENSG00000124657.1	transcript	ENST00000244623.1	protein_coding		1468		chr6	TogoVar
OR2M3_chr1_248192265_248217925	248213490	TATATGTA others(49): Show TATATGTATATATATATTTATATATATATATGTATATATATATATTTATA TATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(85): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02683.hp2 HG02738.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18953.hp1 NA18956.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19054.hp1 NA19055.hp1 NA19059.hp2 NA19060.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19075.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19084.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0032 a0001c0002t0002 others(12): Show a0001c0001t0004 a0001c0001t0032 a0001c0002t0002 a0001c0002t0007 a0001c0002t0020 a0001c0002t0021 a0001c0002t0030 a0001c0002t0076 a0001c0002t0077 a0001c0002t0078 a0001c0002t0082 a0001c0002t0083 a0001c0002t0084 a0001c0002t0088 a0001c0003t0051	a0001c0001t0004g0004 a0001c0001t0004g0018 a0001c0001t0032g0001 others(17): Show a0001c0001t0004g0004 a0001c0001t0004g0018 a0001c0001t0032g0001 a0001c0002t0002g0002 a0001c0002t0002g0020 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0007g0002 a0001c0002t0020g0002 a0001c0002t0021g0002 a0001c0002t0030g0002 a0001c0002t0076g0002 a0001c0002t0077g0002 a0001c0002t0078g0002 a0001c0002t0082g0002 a0001c0002t0083g0002 a0001c0002t0084g0040 a0001c0002t0088g0002 a0001c0003t0051g0022	88	410	0.2146	-56	c.94 others(67): Show c.9485_*9540delATATGTATATATATATTTATATATATATATGTAT ATATATATATTTATATATATAC	OR2M3	ENSG00000228198.3	transcript	ENST00000641626.1	protein_coding		566		chr1	TogoVar

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