Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
NALF1_chr13_107158510_107872496	107644642	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02486.hp1 HG02895.hp1 others(4): Show HG00323.hp1 HG02486.hp1 HG02895.hp1 HG03130.hp2 HG03491.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0010 a0001c0001t0060 others(4): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0060 a0001c0001t0066 a0001c0001t0085 a0001c0002t0034 a0001c0002t0067	a0001c0001t0009g0007 a0001c0001t0010g0032 a0001c0001t0060g0064 others(4): Show a0001c0001t0009g0007 a0001c0001t0010g0032 a0001c0001t0060g0064 a0001c0001t0066g0028 a0001c0001t0085g0101 a0001c0002t0034g0022 a0001c0002t0067g0075	7	128	0.0547	22	c.915 others(43): Show c.915+221039_915+221040insATATATATATATATATATATAT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107644657	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA19066.hp2 NA18993.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0054 a0002c0003t0008 a0001c0001t0054 a0002c0003t0008	a0001c0001t0054g0045 a0002c0003t0008g0122 a0001c0001t0054g0045 a0002c0003t0008g0122	2	128	0.0156	22	c.915 others(43): Show c.915+221024_915+221025insCATATATATATATATATATATA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107756435	C C	CTATATAT others(15): Show CTATATATATACATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02976.hp1 HG02647.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0090 a0001c0001t0084 a0001c0001t0090	a0001c0001t0084g0110 a0001c0001t0090g0089 a0001c0001t0084g0110 a0001c0001t0090g0089	2	128	0.0156	22	c.915 others(43): Show c.915+109246_915+109247insTATATATATATGTATATATATA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107756435	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0027 a0001c0001t0062g0027	1	128	0.0078	22	c.915 others(43): Show c.915+109246_915+109247insTATATATATATATATATATATA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAMPT_chr7_106243298_106289983	106267840	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02165.hp1 HG04228.hp1 HG02056.hp2 HG02165.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0148 a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0148	3	336	0.0089	22	c.743 others(37): Show c.743+602_743+623dupTTTTTTTTTTTTTTTTTTTTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NANOGNB_chr12_7760216_7779121	7765569	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG02559.hp2 others(5): Show HG00642.hp1 HG00738.hp1 HG02559.hp2 HG02738.hp2 HG04115.hp1 HG04228.hp2 NA18967.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0078 a0001c0001t0001g0079 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082	8	460	0.0174	22	c.102 others(37): Show c.102+202_102+203insAAAAAAAAAAAAAAAAAAAAAA	NANOGNB	ENSG00000205857.2	transcript	ENST00000382119.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NANOG_chr12_7784402_7804146	7795649	T T	TGCTAAGG others(15): Show TGCTAAGGACAACATTGATAGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(186): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0002c0004 others(4): Show a0001c0001 a0002c0002 a0002c0004 a0002c0005 a0002c0009 a0003c0008 a0007c0006	a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 others(38): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0028 a0001c0001t0029 a0001c0001t0053 a0001c0001t0054 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0002c0002t0004 a0002c0002t0009 a0002c0002t0016 a0002c0002t0020 a0002c0002t0022 a0002c0002t0030 a0002c0002t0031 a0002c0002t0032 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0004t0007 a0002c0004t0023 a0002c0004t0039 a0002c0004t0040 a0002c0004t0041 a0002c0004t0042 a0002c0004t0043 a0002c0004t0045 a0002c0004t0046 a0002c0004t0052 a0002c0005t0024 a0002c0005t0044 a0002c0009t0079 a0003c0008t0004 a0007c0006t0004	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0028 others(54): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0028 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0011g0001 a0001c0001t0011g0014 a0001c0001t0015g0001 a0001c0001t0018g0001 a0001c0001t0028g0001 a0001c0001t0029g0001 a0001c0001t0053g0013 a0001c0001t0054g0012 a0001c0001t0068g0001 a0001c0001t0069g0001 a0001c0001t0070g0040 a0001c0001t0071g0001 a0001c0001t0072g0012 a0001c0001t0073g0012 a0002c0002t0004g0004 a0002c0002t0004g0020 a0002c0002t0004g0021 a0002c0002t0004g0050 a0002c0002t0004g0051 a0002c0002t0004g0052 a0002c0002t0009g0008 a0002c0002t0009g0047 a0002c0002t0016g0004 a0002c0002t0020g0004 a0002c0002t0020g0049 a0002c0002t0022g0004 a0002c0002t0030g0008 a0002c0002t0031g0008 a0002c0002t0032g0008 a0002c0002t0035g0004 a0002c0002t0036g0004 a0002c0002t0037g0053 a0002c0002t0038g0004 a0002c0004t0007g0007 a0002c0004t0007g0018 a0002c0004t0007g0029 a0002c0004t0007g0045 a0002c0004t0023g0007 a0002c0004t0023g0029 a0002c0004t0039g0007 a0002c0004t0040g0055 a0002c0004t0041g0048 a0002c0004t0042g0007 a0002c0004t0043g0007 a0002c0004t0045g0007 a0002c0004t0046g0007 a0002c0004t0052g0007 a0002c0005t0024g0019 a0002c0005t0044g0019 a0002c0009t0079g0004 a0003c0008t0004g0004 a0007c0006t0004g0004	189	434	0.4355	22	c.55 others(31): Show c.556_*557insTAAGGACAACATTGATAGAAGC	NANOG	ENSG00000111704.11	transcript	ENST00000229307.9	protein_coding	4/4	557	INFO_REALIGN_3_PRIME	chr12	TogoVar
NAP1L1_chr12_76031585_76089685	76058191	C C	CTTCATAT others(15): Show CTTCATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA21309.hp1 HG02280.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0042 a0001c0001t0007 a0001c0001t0042	a0001c0001t0007g0161 a0001c0001t0042g0199 a0001c0001t0007g0161 a0001c0001t0042g0199	2	356	0.0056	22	c.429 others(39): Show c.429+1606_429+1607insTATATATATATATATATATGAA	NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	6/14			chr12	TogoVar
NAP1L1_chr12_76031585_76089685	76076549	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0234 a0001c0003t0005g0234	1	356	0.0028	22	c.-20 others(39): Show c.-20-2332_-20-2311dupATATATATATATATATATATAT	NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	1/14			chr12	TogoVar
NAPEPLD_chr7_103094776_103154099	103099575	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 NA19058.hp1 HG04228.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0007 a0001c0001t0021g0169 a0001c0001t0002g0007 a0001c0001t0021g0169	2	381	0.0053	22	c.38 others(33): Show c.3853_*3854insACACACACACACACACACACAC	NAPEPLD	ENSG00000161048.12	transcript	ENST00000465647.6	protein_coding		200		chr7	TogoVar
NAPSA_chr19_50353477_50370639	50369558	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	350	0.0029	22	c.-39 others(33): Show c.-3959_-3938dupAAAAAAAAAAAAAAAAAAAAAA	NAPSA	ENSG00000131400.9	transcript	ENST00000253719.7	protein_coding		3920		chr19	TogoVar
NARF_chr17_82453741_82495537	82471791	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01069.hp1 others(28): Show HG00438.hp1 HG00558.hp2 HG01069.hp1 HG01074.hp2 HG01358.hp1 HG01943.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02451.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG03017.hp2 HG03579.hp2 HG04228.hp1 HG04228.hp2 NA18943.hp1 NA18950.hp2 NA18969.hp1 NA18997.hp2 NA19043.hp1 NA19054.hp1 NA19063.hp2 NA19087.hp1 NA20752.hp1 NA20805.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0004 a0001c0001 a0001c0003 a0007c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0023 a0001c0001t0033 a0001c0003t0024 a0007c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0041 others(21): Show a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0159 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0224 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0008g0042 a0001c0001t0009g0228 a0001c0001t0012g0041 a0001c0001t0023g0042 a0001c0001t0033g0173 a0001c0003t0024g0235 a0007c0004t0001g0024	31	356	0.0871	22	c.386 others(37): Show c.386-757_386-756insAAAAAAAAAAAAAAAAAAAAAA	NARF	ENSG00000141562.19	transcript	ENST00000309794.16	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
NARS2_chr11_78430968_78579864	78554500	C C	CGTGTGTG others(15): Show CGTGTGTGTGCGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0279 a0001c0004t0004g0279	1	294	0.0034	22	c.594 others(39): Show c.594+5038_594+5039insACACACACACACGCACACACAC	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	5/13			chr11	TogoVar
NASP_chr1_45579041_45623893	45587661	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp1 HG02486.hp2 HG02922.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0156 a0001c0008t0002g0157 a0001c0008t0002g0156 a0001c0008t0002g0157	2	300	0.0067	22	c.59+ others(37): Show c.59+3462_59+3483dupTATATATATATATATATATATA	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NASP_chr1_45579041_45623893	45587687	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01106.hp1 HG01123.hp2 others(27): Show HG00673.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01258.hp2 HG01943.hp2 HG01981.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02886.hp1 HG02922.hp2 HG03195.hp1 HG03704.hp1 HG03942.hp1 HG04204.hp2 NA18950.hp1 NA18955.hp1 NA18966.hp2 NA18969.hp1 NA18974.hp1 NA18987.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19066.hp1 NA19066.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0005t0001 a0002c0004t0001	a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0062 others(27): Show a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0062 a0001c0001t0001g0077 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0169 a0001c0002t0001g0194 a0001c0002t0001g0201 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0246 a0001c0002t0001g0262 a0001c0002t0001g0265 a0001c0002t0001g0271 a0001c0002t0001g0274 a0001c0002t0001g0297 a0001c0003t0002g0160 a0001c0003t0002g0195 a0001c0005t0001g0245 a0001c0005t0001g0261 a0002c0004t0001g0187	30	300	0.1000	22	c.59+ others(37): Show c.59+3483_59+3484insTATATATATATATATATATAAA	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAT16_chr7_101165496_101185293	101181387	A A	AAAAATAC others(15): Show AAAAATACAAAAATCAGCCGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	422	0.0024	22	c.-13 others(33): Show c.-1351_-1350insGCCCGGCTGATTTTTGTATTTT	NAT16	ENSG00000167011.9	transcript	ENST00000300303.7	protein_coding		1095		chr7	TogoVar
NAT9_chr17_74765529_74781345	74771924	A A	AGTTGAAA others(15): Show AGTTGAAAATATAGGAAATGGTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0012 a0000c0008t0012	a0000c0008t0012g0046 a0000c0008t0012g0046	1	386	0.0026	22	c.489 others(35): Show c.489+35_489+36insAACCATTTCCTATATTTTCAAC	NAT9	ENSG00000109065.12	transcript	ENST00000357814.8	protein_coding	6/6			chr17	TogoVar
NAV1_chr1_201534127_201831969	201642511	C C	CTCTTTCT others(15): Show CTCTTTCTTTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0135 a0001c0001t0045g0135	1	210	0.0048	22	c.827 others(39): Show c.827-6114_827-6113insTTCTTTCTTTCTTTCTTTCTTT	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201702672	T T	TTCCCTCT others(15): Show TTCCCTCTCTCTCTCTCTCTTTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0090 a0003c0020t0090	a0003c0020t0090g0161 a0003c0020t0090g0161	1	210	0.0048	22	c.161 others(43): Show c.1619-10143_1619-10142insCCTCTCTCTCTCTCTCTTTCTC	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201779598	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03130.hp1 HG03579.hp1 HG02630.hp2 HG03130.hp1 HG03579.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0022 a0001c0001 a0012c0022	a0001c0001t0015 a0001c0001t0028 a0012c0022t0031 a0001c0001t0015 a0001c0001t0028 a0012c0022t0031	a0001c0001t0015g0081 a0001c0001t0028g0158 a0012c0022t0031g0197 a0001c0001t0015g0081 a0001c0001t0028g0158 a0012c0022t0031g0197	3	210	0.0143	22	c.208 others(39): Show c.2088-821_2088-800dupAAAAAAAAAAAAAAAAAAAAAA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201802136	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01993.hp1 HG02071.hp2 others(4): Show HG01433.hp2 HG01993.hp1 HG02071.hp2 NA18994.hp2 NA19000.hp2 NA19004.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0002c0002t0009 others(3): Show a0001c0001t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0012 a0002c0002t0033 a0002c0002t0034	a0001c0001t0002g0049 a0001c0001t0002g0062 a0002c0002t0003g0105 others(4): Show a0001c0001t0002g0049 a0001c0001t0002g0062 a0002c0002t0003g0105 a0002c0002t0009g0008 a0002c0002t0012g0065 a0002c0002t0033g0137 a0002c0002t0034g0171	7	210	0.0333	22	c.437 others(41): Show c.4379-1438_4379-1437insAAAAAAAAAAAAAAAAAAAAAA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	19/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19818002	T T	TAGCCTCT others(15): Show TAGCCTCTTTGCACCCCACAGGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02717.hp2 others(3): Show HG02451.hp2 HG02622.hp2 HG02717.hp2 HG02970.hp2 HG03516.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0048 a0001c0050 a0001c0054 others(3): Show a0001c0048 a0001c0050 a0001c0054 a0001c0059 a0003c0006 a0003c0055	a0001c0048t0036 a0001c0050t0035 a0001c0054t0005 others(3): Show a0001c0048t0036 a0001c0050t0035 a0001c0054t0005 a0001c0059t0001 a0003c0006t0008 a0003c0055t0008	a0001c0048t0036g0150 a0001c0050t0035g0151 a0001c0054t0005g0083 others(3): Show a0001c0048t0036g0150 a0001c0050t0035g0151 a0001c0054t0005g0083 a0001c0059t0001g0135 a0003c0006t0008g0159 a0003c0055t0008g0070	6	166	0.0361	22	c.268 others(41): Show c.268-14481_268-14460dupAGCCTCTTTGCACCCCACAGGC	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20005238	C C	CATATATA others(15): Show CATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03209.hp1 HG03453.hp2 HG02055.hp1 HG03209.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0049 a0001c0060 a0002c0137 a0001c0049 a0001c0060 a0002c0137	a0001c0049t0011 a0001c0060t0016 a0002c0137t0017 a0001c0049t0011 a0001c0060t0016 a0002c0137t0017	a0001c0049t0011g0008 a0001c0060t0016g0119 a0002c0137t0017g0009 a0001c0049t0011g0008 a0001c0060t0016g0119 a0002c0137t0017g0009	3	166	0.0181	22	c.276 others(43): Show c.2768+21002_2768+21003insATATATATATAATATATATATA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106175	A A	ATATATAT others(15): Show ATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0007 a0007	a0007c0090 a0007c0090	a0007c0090t0020 a0007c0090t0020	a0007c0090t0020g0056 a0007c0090t0020g0056	1	166	0.0060	22	c.684 others(39): Show c.6841+449_6841+450insATATATATATATGTGTGTGTGT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106175	A A	ATATATAT others(15): Show ATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01361.hp2 HG02055.hp2 others(5): Show HG00558.hp2 HG01361.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02965.hp1 NA18906.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0052 a0001c0074 a0001c0077 others(5): Show a0001c0052 a0001c0074 a0001c0077 a0002c0014 a0002c0119 a0003c0042 a0003c0056 a0003c0067	a0001c0052t0007 a0001c0074t0001 a0001c0077t0009 others(5): Show a0001c0052t0007 a0001c0074t0001 a0001c0077t0009 a0002c0014t0001 a0002c0119t0004 a0003c0042t0001 a0003c0056t0013 a0003c0067t0007	a0001c0052t0007g0134 a0001c0074t0001g0042 a0001c0077t0009g0155 others(5): Show a0001c0052t0007g0134 a0001c0074t0001g0042 a0001c0077t0009g0155 a0002c0014t0001g0033 a0002c0119t0004g0103 a0003c0042t0001g0161 a0003c0056t0013g0001 a0003c0067t0007g0010	8	166	0.0482	22	c.684 others(39): Show c.6841+449_6841+450insATATATATATGTGTGTGTGTGT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106175	A A	ATATATAT others(15): Show ATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG01433.hp2 others(2): Show HG00280.hp2 HG00741.hp2 HG01433.hp2 HG03471.hp1 NA18964.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0078 a0002c0002 a0002c0095 others(1): Show a0001c0078 a0002c0002 a0002c0095 a0003c0066	a0001c0078t0001 a0002c0002t0019 a0002c0002t0033 others(2): Show a0001c0078t0001 a0002c0002t0019 a0002c0002t0033 a0002c0095t0013 a0003c0066t0009	a0001c0078t0001g0122 a0002c0002t0019g0099 a0002c0002t0033g0106 others(2): Show a0001c0078t0001g0122 a0002c0002t0019g0099 a0002c0002t0033g0106 a0002c0095t0013g0126 a0003c0066t0009g0154	5	166	0.0301	22	c.684 others(39): Show c.6841+449_6841+450insATATATATGTGTGTGTGTGTGT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106175	A A	ATATATAT others(15): Show ATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0096 a0002c0096	a0002c0096t0001 a0002c0096t0001	a0002c0096t0001g0130 a0002c0096t0001g0130	1	166	0.0060	22	c.684 others(39): Show c.6841+449_6841+450insATATATGTGTGTGTGTGTGTGT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106183	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04228.hp1 HG04199.hp1 HG04228.hp1	a0004 a0007 a0004 a0007	a0004c0136 a0007c0112 a0004c0136 a0007c0112	a0004c0136t0001 a0007c0112t0006 a0004c0136t0001 a0007c0112t0006	a0004c0136t0001g0097 a0007c0112t0006g0071 a0004c0136t0001g0097 a0007c0112t0006g0071	2	166	0.0121	22	c.684 others(39): Show c.6841+457_6841+458insGTGTGTGTGTGTGTGTGTATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV3_chr12_77825894_78218010	77873744	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0041 a0001c0003t0004g0041	1	186	0.0054	22	c.243 others(41): Show c.243+42041_243+42042insGTGTGTATATATATATATATAT	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAV3_chr12_77825894_78218010	77873744	G G	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02717.hp2 HG02723.hp1 others(3): Show HG01109.hp2 HG02717.hp2 HG02723.hp1 HG02922.hp2 HG04228.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0009 others(2): Show a0001c0002 a0001c0005 a0001c0009 a0001c0012 a0002c0015	a0001c0002t0046 a0001c0002t0049 a0001c0005t0018 others(3): Show a0001c0002t0046 a0001c0002t0049 a0001c0005t0018 a0001c0009t0001 a0001c0012t0002 a0002c0015t0015	a0001c0002t0046g0186 a0001c0002t0049g0056 a0001c0005t0018g0098 others(3): Show a0001c0002t0046g0186 a0001c0002t0049g0056 a0001c0005t0018g0098 a0001c0009t0001g0123 a0001c0012t0002g0115 a0002c0015t0015g0057	6	186	0.0323	22	c.243 others(41): Show c.243+42041_243+42042insGTGTGTGTATATATATATATAT	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAV3_chr12_77825894_78218010	77873744	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	186	0.0054	22	c.243 others(41): Show c.243+42041_243+42042insGTGTGTGTGTATATATATATAT	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAV3_chr12_77825894_78218010	78160406	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGCGTGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0110 a0001c0021t0001g0110	1	186	0.0054	22	c.486 others(41): Show c.4869+1137_4869+1138insCGTGCGTGTGTGTGTGTGTGTG	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	23/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NBAS_chr2_15161916_15566334	15393610	G G	GAAATGAA others(15): Show GAAATGAAAGCGTATGTCTACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(115): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01358.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03486.hp1 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG04199.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18948.hp1 NA18948.hp2 NA18960.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0017 a0018 a0020 a0021 a0026 a0027 a0028 a0029 a0030 a0033 a0034 a0035 a0036 a0037 a0038	a0001c0003 a0001c0023 a0002c0002 others(32): Show a0001c0003 a0001c0023 a0002c0002 a0002c0009 a0003c0010 a0003c0011 a0003c0021 a0005c0006 a0005c0051 a0006c0008 a0008c0014 a0008c0019 a0009c0013 a0010c0028 a0011c0012 a0012c0027 a0013c0015 a0014c0045 a0014c0047 a0015c0016 a0017c0052 a0018c0018 a0020c0041 a0021c0020 a0026c0022 a0027c0029 a0028c0026 a0029c0025 a0030c0024 a0033c0042 a0034c0048 a0035c0046 a0036c0043 a0037c0044 a0038c0049	a0001c0003t0001 a0001c0023t0001 a0002c0002t0001 others(32): Show a0001c0003t0001 a0001c0023t0001 a0002c0002t0001 a0002c0009t0001 a0003c0010t0001 a0003c0011t0001 a0003c0021t0001 a0005c0006t0001 a0005c0051t0001 a0006c0008t0001 a0008c0014t0001 a0008c0019t0001 a0009c0013t0001 a0010c0028t0001 a0011c0012t0001 a0012c0027t0001 a0013c0015t0001 a0014c0045t0001 a0014c0047t0001 a0015c0016t0001 a0017c0052t0001 a0018c0018t0001 a0020c0041t0001 a0021c0020t0001 a0026c0022t0001 a0027c0029t0001 a0028c0026t0001 a0029c0025t0001 a0030c0024t0001 a0033c0042t0001 a0034c0048t0001 a0035c0046t0001 a0036c0043t0001 a0037c0044t0001 a0038c0049t0001	a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 others(115): Show a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0030 a0001c0003t0001g0033 a0001c0003t0001g0039 a0001c0023t0001g0007 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0219 a0002c0009t0001g0160 a0002c0009t0001g0165 a0002c0009t0001g0191 a0002c0009t0001g0193 a0003c0010t0001g0048 a0003c0011t0001g0022 a0003c0011t0001g0034 a0003c0021t0001g0009 a0005c0006t0001g0136 a0005c0006t0001g0138 a0005c0006t0001g0139 a0005c0006t0001g0140 a0005c0006t0001g0141 a0005c0006t0001g0142 a0005c0051t0001g0137 a0006c0008t0001g0016 a0006c0008t0001g0017 a0006c0008t0001g0144 a0008c0014t0001g0133 a0008c0014t0001g0134 a0008c0019t0001g0004 a0009c0013t0001g0131 a0009c0013t0001g0132 a0010c0028t0001g0010 a0011c0012t0001g0032 a0011c0012t0001g0143 a0012c0027t0001g0026 a0013c0015t0001g0002 a0013c0015t0001g0223 a0014c0045t0001g0183 a0014c0047t0001g0200 a0015c0016t0001g0177 a0015c0016t0001g0201 a0017c0052t0001g0135 a0018c0018t0001g0153 a0020c0041t0001g0027 a0021c0020t0001g0005 a0026c0022t0001g0008 a0027c0029t0001g0031 a0028c0026t0001g0021 a0029c0025t0001g0003 a0030c0024t0001g0028 a0033c0042t0001g0176 a0034c0048t0001g0194 a0035c0046t0001g0188 a0036c0043t0001g0221 a0037c0044t0001g0159 a0038c0049t0001g0148	118	224	0.5268	22	c.325 others(39): Show c.3257+595_3257+616dupGTGTAGACATACGCTTTCATTT	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	28/51			chr2	TogoVar
NBDY_chrX_56724243_56824179	56726133	G G	GTATTGTT others(15): Show GTATTGTTATATATATATAACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02683.hp2 HG01433.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0158 a0001c0001t0001g0112 a0001c0001t0001g0158	2	160	0.0125	22	c.-32 others(33): Show c.-3221_-3220insTATTGTTATATATATATAACAA	NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding		3109		chrX	TogoVar
NBEAL1_chr2_203009875_203230194	203119424	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00609.hp2 others(45): Show HG00408.hp2 HG00423.hp2 HG00609.hp2 HG00642.hp1 HG00741.hp1 HG01081.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02055.hp1 HG02258.hp1 HG02293.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG03041.hp1 HG03209.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04228.hp2 NA18906.hp2 NA18939.hp2 NA18951.hp2 NA18968.hp1 NA18970.hp2 NA18984.hp1 NA18986.hp1 NA18991.hp1 NA18995.hp1 NA18999.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19240.hp1 NA20300.hp1	a0001 a0012 a0014 others(1): Show a0001 a0012 a0014 a0022	a0001c0001 a0001c0008 a0001c0024 others(4): Show a0001c0001 a0001c0008 a0001c0024 a0001c0030 a0012c0028 a0014c0026 a0022c0032	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0036 a0001c0001t0037 a0001c0001t0044 a0001c0001t0046 a0001c0008t0001 a0001c0024t0001 a0001c0030t0049 a0012c0028t0042 a0014c0026t0001 a0022c0032t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(45): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0006g0230 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0254 a0001c0001t0006g0271 a0001c0001t0013g0257 a0001c0001t0036g0207 a0001c0001t0037g0272 a0001c0001t0044g0201 a0001c0001t0046g0187 a0001c0008t0001g0240 a0001c0008t0001g0241 a0001c0024t0001g0005 a0001c0030t0049g0247 a0012c0028t0042g0250 a0014c0026t0001g0191 a0022c0032t0001g0246	48	292	0.1644	22	c.259 others(41): Show c.2593-2810_2593-2809insTTTTTTTTTTTTTTTTTTTTTT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	18/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203209713	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0057 a0001c0009t0007g0057	1	292	0.0034	22	c.778 others(39): Show c.7785+403_7785+424dupGTGTGTGTGTGTGTGTGTGTGT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	53/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBPF10_chr1_146059711_146149804	146074633	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGACAGAGACAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG02622.hp1 others(1): Show HG02109.hp1 HG02615.hp1 HG02622.hp1 HG02886.hp2	a0019 a0047 a0132 a0019 a0047 a0132	a0019c0063 a0019c0064 a0047c0039 others(1): Show a0019c0063 a0019c0064 a0047c0039 a0132c0141	a0019c0063t0023 a0019c0064t0020 a0047c0039t0001 others(1): Show a0019c0063t0023 a0019c0064t0020 a0047c0039t0001 a0132c0141t0005	a0019c0063t0023g0082 a0019c0064t0020g0080 a0047c0039t0001g0081 others(1): Show a0019c0063t0023g0082 a0019c0064t0020g0080 a0047c0039t0001g0081 a0132c0141t0005g0138	4	283	0.0141	22	c.990 others(39): Show c.9906-191_9906-190insCTGTCTCTGTCTCTCTCTCTCT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	79/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146093544	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGACAGAGACAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03486.hp2 HG03209.hp1 HG03486.hp2	a0085 a0139 a0085 a0139	a0085c0091 a0139c0147 a0085c0091 a0139c0147	a0085c0091t0005 a0139c0147t0001 a0085c0091t0005 a0139c0147t0001	a0085c0091t0005g0157 a0139c0147t0001g0150 a0085c0091t0005g0157 a0139c0147t0001g0150	2	283	0.0071	22	c.697 others(39): Show c.6978-191_6978-190insCTGTCTCTGTCTCTCTCTCTCT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	55/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146098266	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGACAGAGACAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG03486.hp2 HG01891.hp1 HG02280.hp1 HG03486.hp2	a0081 a0082 a0085 a0081 a0082 a0085	a0081c0095 a0082c0093 a0085c0091 a0081c0095 a0082c0093 a0085c0091	a0081c0095t0005 a0082c0093t0005 a0085c0091t0005 a0081c0095t0005 a0082c0093t0005 a0085c0091t0005	a0081c0095t0005g0160 a0082c0093t0005g0162 a0085c0091t0005g0157 a0081c0095t0005g0160 a0082c0093t0005g0162 a0085c0091t0005g0157	3	283	0.0106	22	c.624 others(39): Show c.6246-191_6246-190insCTGTCTCTGTCTCTCTCTCTCT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	49/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146102988	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGACAGAGACAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0081 a0081	a0081c0095 a0081c0095	a0081c0095t0005 a0081c0095t0005	a0081c0095t0005g0160 a0081c0095t0005g0160	1	283	0.0035	22	c.551 others(39): Show c.5514-191_5514-190insCTGTCTCTGTCTCTCTCTCTCT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	43/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146109319	C C	CACACACA others(15): Show CACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0049 a0049	a0049c0043 a0049c0043	a0049c0043t0001 a0049c0043t0001	a0049c0043t0001g0027 a0049c0043t0001g0027	1	283	0.0035	22	c.450 others(39): Show c.4500-206_4500-205insCTGTGTGTGTGTGTGTGTGTGT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	35/89			chr1	TogoVar
NBPF10_chr1_146059711_146149804	146117134	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGACAGAGACAG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02976.hp1 HG03704.hp1 HG02273.hp2 HG02976.hp1 HG03704.hp1	a0004 a0094 a0097 a0004 a0094 a0097	a0004c0004 a0094c0139 a0097c0121 a0004c0004 a0094c0139 a0097c0121	a0004c0004t0003 a0094c0139t0002 a0097c0121t0002 a0004c0004t0003 a0094c0139t0002 a0097c0121t0002	a0004c0004t0003g0199 a0094c0139t0002g0115 a0097c0121t0002g0156 a0004c0004t0003g0199 a0094c0139t0002g0115 a0097c0121t0002g0156	3	283	0.0106	22	c.331 others(39): Show c.3318-191_3318-190insCTGTCTCTGTCTCTCTCTCTCT	NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	25/89			chr1	TogoVar
NBPF14_chr1_148526385_148601011	148557087	C C	CACACACA others(15): Show CACACACACACACACAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02293.hp1 HG02300.hp1 others(1): Show HG01934.hp1 HG02293.hp1 HG02300.hp1 NA18950.hp2	a0009 a0009	a0009c0008 a0009c0095 a0009c0008 a0009c0095	a0009c0008t0001 a0009c0095t0001 a0009c0008t0001 a0009c0095t0001	a0009c0008t0001g0030 a0009c0008t0001g0031 a0009c0008t0001g0032 others(1): Show a0009c0008t0001g0030 a0009c0008t0001g0031 a0009c0008t0001g0032 a0009c0095t0001g0061	4	222	0.0180	22	c.500 others(39): Show c.5007-226_5007-225insCTCTCTCTGTGTGTGTGTGTGT	NBPF14	ENSG00000270629.7	transcript	ENST00000619423.4	protein_coding	40/70			chr1	TogoVar
NBPF15_chr1_144416390_144466669	144463598	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	394	0.0025	22	c.-31 others(33): Show c.-3156_-3155insTTTTTTTTTTTTTTTTTTTTTT	NBPF15	ENSG00000266338.7	transcript	ENST00000581897.7	protein_coding		1930		chr1	TogoVar
NBPF19_chr1_149470045_149561361	149528945	C C	CTCTCTCT others(15): Show CTCTCTCTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0006 a0006	a0006c0213 a0006c0213	a0006c0213t0002 a0006c0213t0002	a0006c0213t0002g0224 a0006c0213t0002g0224	1	276	0.0036	22	c.734 others(39): Show c.7347-228_7347-227insCTCTCTCTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	61/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149528945	C C	CTCTCTCT others(15): Show CTCTCTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01928.hp1 others(15): Show HG01516.hp2 HG01517.hp1 HG01928.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02683.hp2 HG02698.hp2 HG02965.hp2 HG03654.hp1 HG03688.hp1 NA18612.hp1 NA18962.hp1 NA18972.hp1 NA18984.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2	a0003 a0013 a0038 others(10): Show a0003 a0013 a0038 a0044 a0053 a0077 a0079 a0093 a0109 a0122 a0126 a0143 a0174	a0003c0003 a0003c0136 a0013c0035 others(12): Show a0003c0003 a0003c0136 a0013c0035 a0013c0162 a0038c0038 a0044c0210 a0053c0190 a0077c0110 a0079c0107 a0093c0124 a0109c0135 a0122c0156 a0126c0130 a0143c0179 a0174c0202	a0003c0003t0001 a0003c0136t0001 a0013c0035t0001 others(12): Show a0003c0003t0001 a0003c0136t0001 a0013c0035t0001 a0013c0162t0001 a0038c0038t0001 a0044c0210t0004 a0053c0190t0001 a0077c0110t0001 a0079c0107t0001 a0093c0124t0001 a0109c0135t0001 a0122c0156t0001 a0126c0130t0001 a0143c0179t0001 a0174c0202t0013	a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 others(15): Show a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0136t0001g0005 a0013c0035t0001g0038 a0013c0035t0001g0084 a0013c0162t0001g0040 a0038c0038t0001g0171 a0044c0210t0004g0206 a0053c0190t0001g0064 a0077c0110t0001g0178 a0079c0107t0001g0059 a0093c0124t0001g0153 a0109c0135t0001g0063 a0122c0156t0001g0086 a0126c0130t0001g0134 a0143c0179t0001g0021 a0174c0202t0013g0204	18	276	0.0652	22	c.734 others(39): Show c.7347-228_7347-227insCTCTCTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	61/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149528945	C C	CTCTCTGT others(15): Show CTCTCTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01109.hp1 HG03041.hp1 others(2): Show HG00558.hp1 HG01109.hp1 HG03041.hp1 HG03098.hp2 NA18981.hp2	a0011 a0048 a0116 others(2): Show a0011 a0048 a0116 a0119 a0141	a0011c0010 a0048c0081 a0116c0150 others(2): Show a0011c0010 a0048c0081 a0116c0150 a0119c0153 a0141c0182	a0011c0010t0001 a0048c0081t0011 a0116c0150t0001 others(2): Show a0011c0010t0001 a0048c0081t0011 a0116c0150t0001 a0119c0153t0001 a0141c0182t0001	a0011c0010t0001g0012 a0048c0081t0011g0151 a0116c0150t0001g0014 others(2): Show a0011c0010t0001g0012 a0048c0081t0011g0151 a0116c0150t0001g0014 a0119c0153t0001g0097 a0141c0182t0001g0122	5	276	0.0181	22	c.734 others(39): Show c.7347-228_7347-227insCTCTGTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	61/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149528945	C C	CTCTGTGT others(15): Show CTCTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02129.hp2 HG03831.hp1 others(2): Show HG00738.hp1 HG02129.hp2 HG03831.hp1 NA18983.hp1 NA19084.hp1	a0033 a0179 a0181 others(2): Show a0033 a0179 a0181 a0204 a0207	a0033c0011 a0179c0071 a0181c0073 others(2): Show a0033c0011 a0179c0071 a0181c0073 a0204c0067 a0207c0046	a0033c0011t0002 a0179c0071t0002 a0181c0073t0002 others(2): Show a0033c0011t0002 a0179c0071t0002 a0181c0073t0002 a0204c0067t0002 a0207c0046t0002	a0033c0011t0002g0255 a0179c0071t0002g0260 a0181c0073t0002g0272 others(2): Show a0033c0011t0002g0255 a0179c0071t0002g0260 a0181c0073t0002g0272 a0204c0067t0002g0248 a0207c0046t0002g0241	5	276	0.0181	22	c.734 others(39): Show c.7347-228_7347-227insCTGTGTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	61/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149543186	C C	CTCTCTCT others(15): Show CTCTCTCTGTGTGTTTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0160 a0160	a0160c0076 a0160c0076	a0160c0076t0014 a0160c0076t0014	a0160c0076t0014g0225 a0160c0076t0014g0225	1	276	0.0036	22	c.954 others(39): Show c.9543-226_9543-225insCTCTCTGTGTGTTTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	79/93		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149543186	C C	CTCTCTGT others(15): Show CTCTCTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02257.hp2 HG02258.hp2 others(9): Show HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02965.hp2 NA18942.hp2 NA18955.hp2 NA18972.hp1 NA18983.hp2 NA19005.hp1 NA20129.hp1 NA20752.hp2	a0002 a0013 a0043 others(7): Show a0002 a0013 a0043 a0044 a0076 a0111 a0118 a0136 a0170 a0172	a0002c0002 a0013c0035 a0013c0162 others(8): Show a0002c0002 a0013c0035 a0013c0162 a0043c0209 a0044c0210 a0076c0109 a0111c0132 a0118c0151 a0136c0163 a0170c0208 a0172c0204	a0002c0002t0003 a0013c0035t0001 a0013c0162t0001 others(8): Show a0002c0002t0003 a0013c0035t0001 a0013c0162t0001 a0043c0209t0004 a0044c0210t0004 a0076c0109t0001 a0111c0132t0001 a0118c0151t0001 a0136c0163t0001 a0170c0208t0004 a0172c0204t0004	a0002c0002t0003g0188 a0013c0035t0001g0038 a0013c0035t0001g0084 others(9): Show a0002c0002t0003g0188 a0013c0035t0001g0038 a0013c0035t0001g0084 a0013c0162t0001g0040 a0043c0209t0004g0207 a0044c0210t0004g0206 a0076c0109t0001g0137 a0111c0132t0001g0199 a0118c0151t0001g0053 a0136c0163t0001g0200 a0170c0208t0004g0202 a0172c0204t0004g0268	12	276	0.0435	22	c.954 others(39): Show c.9543-226_9543-225insCTCTGTGTGTGTGTGTGTGTGT	NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	79/93		INFO_REALIGN_3_PRIME	chr1	TogoVar

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