Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NMNAT3_chr3_139555191_139682972	139675135	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18974.hp1 HG01099.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0316 a0001c0001t0002g0009 a0001c0001t0001g0316 a0001c0001t0002g0009	2	322	0.0062	18	c.-17 others(37): Show c.-178+2552_-178+2569dupGTGTGTGTGTGTGTGTGT	NMNAT3	ENSG00000163864.18	transcript	ENST00000704800.1	protein_coding	1/6			chr3	TogoVar
NMT1_chr17_45056317_45114016	45085018	T T	TGGGCACA others(11): Show TGGGCACATCGCTTGAGCC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	386	0.0026	18	c.241 others(35): Show c.241-1485_241-1484insCATCGCTTGAGCCGGGCA	NMT1	ENSG00000136448.13	transcript	ENST00000258960.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
NMT1_chr17_45056317_45114016	45091187	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18986.hp2 NA19067.hp1 others(2): Show HG03098.hp1 NA18986.hp2 NA19067.hp1 NA19090.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0305 a0001c0002t0001g0078 a0001c0002t0001g0216 others(2): Show a0001c0001t0002g0305 a0001c0002t0001g0078 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0226	5	386	0.0130	18	c.386 others(35): Show c.386-2465_386-2448dupACACACACACACACACAC	NMT1	ENSG00000136448.13	transcript	ENST00000258960.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
NMT2_chr10_15100770_15173693	15113463	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0207 a0001c0001t0005g0207	1	276	0.0036	18	c.117 others(35): Show c.1171-518_1171-501dupTTTTTTTTTTTTTTTTTT	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	9/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15168818	G G	GCGCCCAG others(11): Show GCGCCCAGCCCGCCGGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG02148.hp2 HG02738.hp2 others(1): Show HG01258.hp2 HG02148.hp2 HG02738.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0151 a0001c0001t0001g0222 a0001c0001t0007g0198 others(1): Show a0001c0001t0001g0151 a0001c0001t0001g0222 a0001c0001t0007g0198 a0001c0001t0007g0255	4	276	0.0145	18	c.-20 others(27): Show c.-207_-206insGGGCCGGCGGGCTGGGCG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding		126		chr10	TogoVar
NMU_chr4_55590231_55641298	55595563	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02015.hp2 NA18990.hp2 others(1): Show HG01928.hp1 HG02015.hp2 NA18990.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0293 a0001c0001t0001g0302 a0002c0003t0001g0047 others(1): Show a0001c0001t0001g0293 a0001c0001t0001g0302 a0002c0003t0001g0047 a0002c0003t0001g0048	4	412	0.0097	18	c.5- others(31): Show c.5-153_*5-152insGTGTATATATATATATAT	NMU	ENSG00000109255.11	transcript	ENST00000264218.7	protein_coding	9/9			chr4	TogoVar
NNT_chr5_43598180_43712396	43645683	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA19006.hp1 HG01070.hp1 NA19006.hp1	a0002 a0002	a0002c0003 a0002c0015 a0002c0003 a0002c0015	a0002c0003t0002 a0002c0015t0002 a0002c0003t0002 a0002c0015t0002	a0002c0003t0002g0104 a0002c0015t0002g0086 a0002c0003t0002g0104 a0002c0015t0002g0086	2	188	0.0106	18	c.144 others(35): Show c.1444+174_1444+175insCTCTCTCTCTCTCTATAT	NNT	ENSG00000112992.18	transcript	ENST00000344920.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
NOB1_chr16_69736871_69759926	69741052	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	449	0.0022	18	c.12 others(29): Show c.1279_*1280insTTTTTTTTTTTTTTTTTT	NOB1	ENSG00000141101.13	transcript	ENST00000268802.10	protein_coding		818		chr16	TogoVar
NOCT_chr4_139010781_139050939	139039170	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02145.hp2 HG03098.hp2 HG00673.hp2 HG02145.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0007 a0002c0002t0018 a0001c0001t0004 a0002c0002t0007 a0002c0002t0018	a0001c0001t0004g0100 a0002c0002t0007g0234 a0002c0002t0018g0295 a0001c0001t0004g0100 a0002c0002t0007g0234 a0002c0002t0018g0295	3	384	0.0078	18	c.191 others(35): Show c.191-3887_191-3886insAAAAAAAAAAAAAAAAAA	NOCT	ENSG00000151014.6	transcript	ENST00000280614.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
NOCT_chr4_139010781_139050939	139043980	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0210 a0001c0001t0026g0210	1	384	0.0026	18	c.460 others(33): Show c.460+644_461-635dupTATATATATATATATATA	NOCT	ENSG00000151014.6	transcript	ENST00000280614.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
NODAL_chr10_70426936_70446681	70430419	T T	TTGTGCCA others(11): Show TTGTGCCACTGCACTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	434	0.0023	18	c.25 others(29): Show c.2516_*2517insCTGGAGTGCAGTGGCACA	NODAL	ENSG00000156574.10	transcript	ENST00000287139.8	protein_coding		1516		chr10	TogoVar
NOG_chr17_56588699_56600611	56592924	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0000 a0001c0001t0008g0000	1	356	0.0028	18	c.-13 others(29): Show c.-1300_-1299insTGTGTGTGTGTGTGTGTG	NOG	ENSG00000183691.6	transcript	ENST00000332822.6	protein_coding		774		chr17	TogoVar
NOL10_chr2_10565754_10694975	10607750	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02523.hp1 HG02630.hp1 others(4): Show HG01070.hp1 HG02523.hp1 HG02630.hp1 HG03579.hp2 HG06807.hp2 NA19030.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0002 a0003c0005t0011 a0001c0002t0002 a0003c0005t0011	a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0165 others(4): Show a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0165 a0001c0002t0002g0204 a0001c0002t0002g0250 a0001c0002t0002g0261 a0003c0005t0011g0016	7	372	0.0188	18	c.102 others(35): Show c.1027-457_1027-440dupTAATAATAATAATAATAA	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	13/20			chr2	TogoVar
NOL10_chr2_10565754_10694975	10690415	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 NA20905.hp2 HG00597.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0019 a0002c0003t0003 a0002c0003t0019	a0002c0003t0003g0128 a0002c0003t0019g0141 a0002c0003t0003g0128 a0002c0003t0019g0141	2	372	0.0054	18	c.-55 others(27): Show c.-555_-554insTTTTTTTTTTTTTTTTTT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding		441		chr2	TogoVar
NOL12_chr22_37681343_37698474	37691617	C C	CACTCATC others(11): Show CACTCATCAGATTTGTGGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(174): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01981.hp2 HG01993.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18999.hp2 NA19002.hp2 NA19007.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(18): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0002c0002t0003 a0002c0002t0020 a0003c0003t0009 a0004c0004t0002 a0005c0005t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(34): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0036 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0006g0010 a0001c0001t0007g0002 a0001c0001t0010g0006 a0001c0001t0011g0024 a0001c0001t0012g0023 a0001c0001t0013g0002 a0001c0001t0018g0002 a0001c0001t0019g0037 a0001c0001t0021g0009 a0001c0001t0022g0028 a0001c0001t0023g0050 a0001c0001t0024g0022 a0001c0001t0025g0002 a0001c0001t0026g0002 a0002c0002t0003g0008 a0002c0002t0020g0008 a0003c0003t0009g0013 a0004c0004t0002g0002 a0005c0005t0002g0004	177	424	0.4175	18	c.29 others(27): Show c.297_*298insGAACTCATCAGATTTGTG	NOL12	ENSG00000273899.5	transcript	ENST00000359114.9	protein_coding	6/6	298	INFO_REALIGN_3_PRIME	chr22	TogoVar
NOL12_chr22_37681343_37698474	37695316	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	424	0.0024	18	c.39 others(29): Show c.3980_*3981insAAAAAAAAAAAAAAAAAA	NOL12	ENSG00000273899.5	transcript	ENST00000359114.9	protein_coding		1843		chr22	TogoVar
NOL4L_chr20_32438059_32590333	32462903	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01981.hp1 HG03486.hp2 HG01934.hp1 HG01981.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0003g0168 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0003g0168	3	196	0.0153	18	c.842 others(35): Show c.842-6526_842-6509dupTTTTTTTTTTTTTTTTTT	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	5/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32485058	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01884.hp1 HG02080.hp2 others(7): Show HG01433.hp1 HG01884.hp1 HG02080.hp2 HG02523.hp2 HG02698.hp1 HG03927.hp1 NA18522.hp1 NA18979.hp2 NA18980.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0001t0043 a0001c0003t0009	a0001c0001t0001g0087 a0001c0001t0001g0111 a0001c0001t0001g0122 others(7): Show a0001c0001t0001g0087 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0180 a0001c0001t0003g0109 a0001c0001t0005g0146 a0001c0001t0011g0068 a0001c0001t0015g0104 a0001c0001t0043g0108 a0001c0003t0009g0027	10	196	0.0510	18	c.700 others(37): Show c.700-10334_700-10317dupTTTTTTTTTTTTTTTTTT	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32488805	T T	TCCTTCCT others(11): Show TCCTTCCTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	196	0.0051	18	c.700 others(37): Show c.700-14064_700-14063insGAAAGAAAGGAAGGAAGG	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32488805	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01884.hp1 HG01358.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0180 a0001c0001t0004g0148 a0001c0001t0001g0180 a0001c0001t0004g0148	2	196	0.0102	18	c.700 others(37): Show c.700-14064_700-14063insGAAAGAAAGAAAGAAAGA	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32541008	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG04204.hp1 NA19056.hp1 HG02280.hp2 HG04204.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0001g0113	3	196	0.0153	18	c.322 others(37): Show c.322-13113_322-13096dupGTGTGTGTGTGTGTGTGT	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4_chr18_33846100_34229913	34046607	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp1 NA18906.hp1 others(1): Show HG01891.hp2 HG02723.hp1 NA18906.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0001c0001t0001 a0001c0001t0003 a0001c0007t0001	a0001c0001t0001g0153 a0001c0001t0003g0032 a0001c0001t0003g0126 others(1): Show a0001c0001t0001g0153 a0001c0001t0003g0032 a0001c0001t0003g0126 a0001c0007t0001g0164	4	168	0.0238	18	c.773 others(37): Show c.773-27024_773-27007dupATATATATATATATATAT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34095251	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	168	0.0060	18	c.640 others(35): Show c.640-1672_640-1655dupCACACACACACACACACA	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	4/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34099362	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(33): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00673.hp1 HG01109.hp2 HG01169.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01993.hp1 HG02135.hp2 HG02155.hp1 HG02486.hp1 HG03239.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18941.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18971.hp2 NA18983.hp1 NA18986.hp1 NA19000.hp1 NA19010.hp1 NA19043.hp2 NA19070.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(33): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0157 a0001c0001t0002g0013 a0001c0001t0002g0037 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0009g0031 a0001c0002t0001g0128 a0001c0003t0001g0129	36	168	0.2143	18	c.639 others(35): Show c.639+4684_639+4685insTTTTTTTTTTTTTTTTTT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	4/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34137779	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	168	0.0060	18	c.265 others(35): Show c.265-7777_265-7760dupGTGTGTGTGTGTGTGTGT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	1/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34203717	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	168	0.0060	18	c.264 others(37): Show c.264+19272_264+19273insTGTGTGTGAGAGAGAGAG	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	1/10			chr18	TogoVar
NOM1_chr7_156944712_156978176	156949658	C C	CGCCCGCC others(11): Show CGCCCGCCCGCCCCGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02630.hp1 HG03579.hp2 others(1): Show HG02145.hp1 HG02630.hp1 HG03579.hp2 HG06807.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0011 a0008c0012t0011	a0008c0012t0011g0048 a0008c0012t0011g0145 a0008c0012t0011g0284 a0008c0012t0011g0048 a0008c0012t0011g0145 a0008c0012t0011g0284	4	426	0.0094	18	c.-80 others(25): Show c.-80_-79insGCCCGCCCGCCCCGCGCA	NOM1	ENSG00000146909.8	transcript	ENST00000275820.4	protein_coding		53		chr7	TogoVar
NOM1_chr7_156944712_156978176	156954522	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00558.hp2 others(22): Show HG00099.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG01074.hp1 HG01109.hp2 HG02071.hp1 HG02615.hp2 HG02970.hp1 HG03490.hp2 HG03669.hp1 HG03834.hp1 NA18941.hp1 NA18944.hp2 NA18949.hp2 NA18960.hp2 NA18971.hp1 NA18979.hp1 NA19056.hp1 NA19067.hp2 NA19077.hp1 NA19081.hp1 NA19082.hp1 NA19091.hp1 NA20300.hp2	a0003 a0004 a0005 others(2): Show a0003 a0004 a0005 a0009 a0017	a0003c0003 a0004c0005 a0005c0006 others(2): Show a0003c0003 a0004c0005 a0005c0006 a0009c0015 a0017c0037	a0003c0003t0002 a0003c0003t0010 a0003c0003t0019 others(5): Show a0003c0003t0002 a0003c0003t0010 a0003c0003t0019 a0003c0003t0028 a0004c0005t0001 a0005c0006t0002 a0009c0015t0015 a0017c0037t0002	a0003c0003t0002g0005 a0003c0003t0002g0065 a0003c0003t0002g0066 others(16): Show a0003c0003t0002g0005 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0068 a0003c0003t0002g0077 a0003c0003t0002g0223 a0003c0003t0002g0224 a0003c0003t0002g0227 a0003c0003t0002g0228 a0003c0003t0010g0005 a0003c0003t0019g0005 a0003c0003t0028g0078 a0004c0005t0001g0225 a0005c0006t0002g0066 a0005c0006t0002g0229 a0005c0006t0002g0252 a0009c0015t0015g0067 a0009c0015t0015g0226 a0017c0037t0002g0250	25	426	0.0587	18	c.130 others(35): Show c.1308+227_1308+244dupTTTTTTTTTTTTTTTTTT	NOM1	ENSG00000146909.8	transcript	ENST00000275820.4	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0012 a0004c0004t0003g0012	1	337	0.0030	18	c.180 others(35): Show c.1806+486_1806+487insATATATATATTTTTTTTT	NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP56_chr20_2647632_2663393	2652732	A A	AGAGCCTG others(11): Show AGAGCCTGGGCCTGGGCCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02071.hp2 HG02523.hp2 others(8): Show HG00733.hp1 HG02071.hp2 HG02523.hp2 HG02717.hp2 HG02735.hp2 HG02922.hp2 HG03453.hp2 NA19030.hp2 NA19091.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0006 others(2): Show a0001c0001 a0001c0002 a0002c0006 a0003c0004 a0005c0013	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0006t0001 a0003c0004t0001 a0005c0013t0002	a0001c0001t0001g0026 a0001c0001t0001g0062 a0001c0002t0001g0061 others(5): Show a0001c0001t0001g0026 a0001c0001t0001g0062 a0001c0002t0001g0061 a0001c0002t0002g0032 a0002c0006t0001g0020 a0002c0006t0001g0037 a0003c0004t0001g0060 a0005c0013t0002g0032	11	448	0.0246	18	c.3+7 others(27): Show c.3+70_3+71insAGCCTGGGCCTGGGCCTG	NOP56	ENSG00000101361.17	transcript	ENST00000329276.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
NOP56_chr20_2647632_2663393	2661177	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG03017.hp2 HG02698.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	448	0.0045	18	c.28 others(29): Show c.2883_*2884insTGTGTGTGTGTGTGTGTG	NOP56	ENSG00000101361.17	transcript	ENST00000329276.10	protein_coding		2785		chr20	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0118 a0001c0003t0003g0118	1	182	0.0055	18	c.105 others(37): Show c.105+11493_105+11494insATATATATTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162125130	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG06807.hp1 HG03225.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0031 a0001c0007t0008 a0001c0003t0031 a0001c0007t0008	a0001c0003t0031g0178 a0001c0007t0008g0075 a0001c0003t0031g0178 a0001c0007t0008g0075	2	182	0.0110	18	c.106 others(37): Show c.106-29271_106-29254dupTTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02258.hp1 HG02886.hp1 others(2): Show HG00609.hp2 HG02258.hp1 HG02886.hp1 HG02922.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 a0001c0004t0026	a0001c0001t0002g0067 a0001c0001t0002g0082 a0001c0001t0011g0005 others(2): Show a0001c0001t0002g0067 a0001c0001t0002g0082 a0001c0001t0011g0005 a0001c0002t0001g0112 a0001c0004t0026g0013	5	182	0.0275	18	c.177 others(37): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162240244	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0074 a0001c0002t0009g0074	1	182	0.0055	18	c.178 others(37): Show c.178-47077_178-47060dupGTGTGTGTGTGTGTGTGT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162255490	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0034 a0001c0001t0030g0034	1	182	0.0055	18	c.178 others(37): Show c.178-31836_178-31819dupTTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162261507	A A	AGAAGAGA others(11): Show AGAAGAGAAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	182	0.0055	18	c.178 others(37): Show c.178-25835_178-25834insAGAGAAGAGAAGAGAGGA	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162261511	A A	AGAAGAGA others(11): Show AGAAGAGAAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02965.hp2 HG03041.hp1 HG02109.hp1 HG02965.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0021 a0001c0003t0010 a0001c0004t0005 a0001c0001t0021 a0001c0003t0010 a0001c0004t0005	a0001c0001t0021g0069 a0001c0003t0010g0068 a0001c0004t0005g0101 a0001c0001t0021g0069 a0001c0003t0010g0068 a0001c0004t0005g0101	3	182	0.0165	18	c.178 others(37): Show c.178-25831_178-25830insAGAGAAGAGAAGAGAGGA	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117208391	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG01069.hp1 others(55): Show HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG02055.hp1 HG02109.hp2 HG02135.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG06807.hp1 NA18947.hp1 NA18947.hp2 NA18955.hp1 NA18956.hp1 NA18984.hp1 NA18999.hp2 NA19000.hp2 NA19060.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0022 a0001c0025	a0001c0001t0059 a0001c0001t0066 a0001c0001t0067 others(47): Show a0001c0001t0059 a0001c0001t0066 a0001c0001t0067 a0001c0001t0074 a0001c0001t0076 a0001c0001t0100 a0001c0001t0102 a0001c0001t0105 a0001c0001t0108 a0001c0001t0111 a0001c0001t0114 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0125 a0001c0001t0143 a0001c0001t0184 a0001c0002t0016 a0001c0002t0036 a0001c0002t0096 a0001c0002t0158 a0001c0002t0163 a0001c0002t0168 a0001c0003t0012 a0001c0003t0036 a0001c0003t0152 a0001c0003t0162 a0001c0004t0005 a0001c0004t0049 a0001c0004t0133 a0001c0004t0134 a0001c0004t0139 a0001c0004t0141 a0001c0005t0010 a0001c0006t0062 a0001c0006t0079 a0001c0006t0093 a0001c0006t0144 a0001c0008t0051 a0001c0008t0130 a0001c0008t0183 a0001c0009t0012 a0001c0010t0088 a0001c0010t0089 a0001c0010t0103 a0001c0011t0016 a0001c0011t0149 a0001c0013t0127 a0001c0022t0131 a0001c0025t0010	a0001c0001t0059g0224 a0001c0001t0066g0278 a0001c0001t0067g0131 others(55): Show a0001c0001t0059g0224 a0001c0001t0066g0278 a0001c0001t0067g0131 a0001c0001t0074g0158 a0001c0001t0076g0156 a0001c0001t0100g0054 a0001c0001t0102g0284 a0001c0001t0105g0138 a0001c0001t0108g0217 a0001c0001t0111g0193 a0001c0001t0114g0091 a0001c0001t0117g0067 a0001c0001t0118g0178 a0001c0001t0119g0111 a0001c0001t0125g0166 a0001c0001t0143g0190 a0001c0001t0184g0230 a0001c0002t0016g0242 a0001c0002t0036g0060 a0001c0002t0096g0192 a0001c0002t0158g0205 a0001c0002t0163g0276 a0001c0002t0168g0222 a0001c0003t0012g0291 a0001c0003t0012g0292 a0001c0003t0036g0150 a0001c0003t0152g0249 a0001c0003t0162g0247 a0001c0004t0005g0149 a0001c0004t0005g0232 a0001c0004t0005g0248 a0001c0004t0005g0262 a0001c0004t0005g0263 a0001c0004t0005g0264 a0001c0004t0049g0022 a0001c0004t0133g0277 a0001c0004t0134g0212 a0001c0004t0139g0234 a0001c0004t0141g0200 a0001c0005t0010g0032 a0001c0005t0010g0134 a0001c0006t0062g0191 a0001c0006t0079g0079 a0001c0006t0093g0167 a0001c0006t0144g0074 a0001c0008t0051g0009 a0001c0008t0130g0154 a0001c0008t0183g0172 a0001c0009t0012g0282 a0001c0010t0088g0171 a0001c0010t0089g0288 a0001c0010t0103g0290 a0001c0011t0016g0168 a0001c0011t0016g0286 a0001c0011t0149g0136 a0001c0013t0127g0233 a0001c0022t0131g0226 a0001c0025t0010g0252	58	294	0.1973	18	c.69 others(29): Show c.6900_*6917dupACACACACACACACACAC	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	29/29	6917		chr12	TogoVar
NOS1_chr12_117203142_117366626	117256284	G G	GTTGTGTT others(11): Show GTTGTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03486.hp1 NA19043.hp1 HG02895.hp1 HG03486.hp1 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0011 a0004c0033 a0001c0011 a0004c0033	a0001c0011t0016 a0004c0033t0171 a0001c0011t0016 a0004c0033t0171	a0001c0011t0016g0168 a0001c0011t0016g0286 a0004c0033t0171g0293 a0001c0011t0016g0168 a0001c0011t0016g0286 a0004c0033t0171g0293	3	294	0.0102	18	c.253 others(37): Show c.2531+2112_2531+2113insAAAAAAAAAAAAACACAA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	16/28			chr12	TogoVar
NOS1_chr12_117203142_117366626	117307994	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03710.hp2 HG03017.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0137 a0001c0001t0002 a0001c0001t0137	a0001c0001t0002g0109 a0001c0001t0137g0110 a0001c0001t0002g0109 a0001c0001t0137g0110	2	294	0.0068	18	c.852 others(35): Show c.852+3454_852+3471dupATTATTATTATTATTATT	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	3/28			chr12	TogoVar
NOS1_chr12_117203142_117366626	117335729	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG01099.hp2 others(16): Show HG00323.hp1 HG01074.hp1 HG01099.hp2 HG01192.hp1 HG01496.hp1 HG01978.hp1 HG02056.hp2 HG02135.hp1 HG02559.hp2 HG02723.hp1 HG02895.hp1 HG03540.hp2 HG03704.hp2 NA18612.hp2 NA19000.hp2 NA19005.hp2 NA19068.hp1 NA19086.hp2 NA20905.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0011 a0001c0015 a0007c0026	a0001c0001t0002 a0001c0001t0042 a0001c0001t0047 others(16): Show a0001c0001t0002 a0001c0001t0042 a0001c0001t0047 a0001c0001t0061 a0001c0001t0071 a0001c0001t0099 a0001c0001t0100 a0001c0001t0124 a0001c0001t0178 a0001c0002t0021 a0001c0004t0005 a0001c0004t0133 a0001c0004t0134 a0001c0004t0138 a0001c0004t0139 a0001c0005t0010 a0001c0011t0016 a0001c0015t0169 a0007c0026t0008	a0001c0001t0002g0089 a0001c0001t0042g0025 a0001c0001t0047g0014 others(16): Show a0001c0001t0002g0089 a0001c0001t0042g0025 a0001c0001t0047g0014 a0001c0001t0061g0153 a0001c0001t0071g0130 a0001c0001t0099g0036 a0001c0001t0100g0054 a0001c0001t0124g0132 a0001c0001t0178g0107 a0001c0002t0021g0004 a0001c0004t0005g0248 a0001c0004t0133g0277 a0001c0004t0134g0212 a0001c0004t0138g0223 a0001c0004t0139g0234 a0001c0005t0010g0134 a0001c0011t0016g0168 a0001c0015t0169g0209 a0007c0026t0008g0042	19	294	0.0646	18	c.-42 others(37): Show c.-420-4258_-420-4241dupTCTCTCTCTCTCTCTCTC	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOS1_chr12_117203142_117366626	117335729	T T	TGGGAGAG others(11): Show TGGGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0017 a0001c0009t0017	a0001c0009t0017g0257 a0001c0009t0017g0257	1	294	0.0034	18	c.-42 others(37): Show c.-420-4241_-420-4240insTCTCTCTCTCTCTCTCCC	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOS2_chr17_27751766_27805529	27752293	T T	TTGGCCCT others(11): Show TTGGCCCTGGCCCTGGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	402	0.0025	18	c.49 others(29): Show c.4952_*4953insGCGCCAGGGCCAGGGCCA	NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding		4472		chr17	TogoVar
NOS2_chr17_27751766_27805529	27784133	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01358.hp2 HG02055.hp1 others(17): Show HG01168.hp1 HG01358.hp2 HG02055.hp1 HG02559.hp2 HG02738.hp2 HG02970.hp2 HG03139.hp1 HG03579.hp2 HG04228.hp1 NA18949.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18986.hp2 NA19007.hp1 NA19066.hp1 NA19084.hp2 NA19090.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0019t0001 a0001c0001t0001 a0001c0001t0002 a0001c0019t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0041 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0143 a0001c0001t0001g0226 a0001c0001t0002g0252 a0001c0001t0002g0341 a0001c0019t0001g0113	20	402	0.0498	18	c.468 others(35): Show c.468-1045_468-1028dupGTGTGTGTGTGTGTGTGT	NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding	5/26			chr17	TogoVar
NOS3_chr7_150986017_151019588	151002383	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	382	0.0026	18	c.175 others(35): Show c.1752+132_1752+149dupACACACACACACACACAC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOS3_chr7_150986017_151019588	151016435	T T	TAGAAATG others(11): Show TAGAAATGTGGAGAGAACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	382	0.0026	18	c.22 others(29): Show c.2266_*2267insAGAAATGTGGAGAGAACG	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding		1848		chr7	TogoVar
NOSTRIN_chr2_168797637_168870514	168834507	G G	GCGCGCAC others(11): Show GCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0208 a0001c0002t0002g0208	1	326	0.0031	18	c.504 others(33): Show c.504+183_504+184insGCGCACACACACACACAC	NOSTRIN	ENSG00000163072.16	transcript	ENST00000317647.12	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
NOSTRIN_chr2_168797637_168870514	168834507	G G	GCGCGCGC others(11): Show GCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0183 a0001c0002t0002g0183	1	326	0.0031	18	c.504 others(33): Show c.504+183_504+184insGCGCGCACACACACACAC	NOSTRIN	ENSG00000163072.16	transcript	ENST00000317647.12	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
NOSTRIN_chr2_168797637_168870514	168834507	G G	GCGCGCGC others(11): Show GCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0189 a0001c0002t0002g0189	1	326	0.0031	18	c.504 others(33): Show c.504+183_504+184insGCGCGCGCACACACACAC	NOSTRIN	ENSG00000163072.16	transcript	ENST00000317647.12	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr2	TogoVar

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