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
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG02615.hp1 NA18946.hp1 HG01258.hp1 HG02615.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0002g0041 a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0002g0041	3	384	0.0078	32	c.64 others(43): Show c.6499_*6500insAAAAAAAAAAAAAAAAATATATATATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18980.hp2 NA18942.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0214 a0001c0001t0002g0101 a0001c0001t0001g0214 a0001c0001t0002g0101	2	384	0.0052	32	c.64 others(43): Show c.6499_*6500insAAAAAAAAAAAAAAATATATATATATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0305 a0001c0002t0004g0305	1	384	0.0026	32	c.64 others(43): Show c.6499_*6500insAAAAAAATATATATATATATATATATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRG1_chr8_32543311_32779046	32634099	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp2 NA18979.hp1 NA18979.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0113 a0003c0003t0001 a0002c0002t0113 a0003c0003t0001	a0002c0002t0113g0188 a0003c0003t0001g0022 a0002c0002t0113g0188 a0003c0003t0001g0022	2	244	0.0082	32	c.502 others(51): Show c.502+17233_502+17234insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
NRG1_chr8_32543311_32779046	32743573	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0075 a0003c0003t0075	a0003c0003t0075g0074 a0003c0003t0075g0074	1	244	0.0041	32	c.700 others(49): Show c.700+1521_700+1522insTATATATATATATATATATATATATATA TATA	NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
NRG2_chr5_139841781_140048299	140029687	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	188	0.0053	32	c.700 others(51): Show c.700+12682_700+12683insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NRG2	ENSG00000158458.21	transcript	ENST00000361474.6	protein_coding	1/9			chr5	TogoVar
NRGN_chr11_124734942_124752210	124736203	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02647.hp1 NA21309.hp2 HG02615.hp1 HG02647.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	3	394	0.0076	32	c.-38 others(43): Show c.-3882_-3881insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	NRGN	ENSG00000154146.13	transcript	ENST00000284292.11	protein_coding		3738		chr11	TogoVar
NRIP2_chr12_2820348_2840035	2835159	A A	ATGTGTGT others(25): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	422	0.0024	32	c.-17 others(41): Show c.-177_-176insCATACACACACACACACACACACACACACACA	NRIP2	ENSG00000053702.15	transcript	ENST00000337508.9	protein_coding		125		chr12	TogoVar
NRIP2_chr12_2820348_2840035	2835190	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 NA18939.hp2 NA18957.hp2 others(1): Show HG00544.hp1 NA18939.hp2 NA18957.hp2 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0003 a0001c0003t0002g0005 a0001c0002t0002g0003 a0001c0003t0002g0005	4	422	0.0095	32	c.-20 others(41): Show c.-208_-207insTCTCTCTCTCACACACACACACACACACACAC	NRIP2	ENSG00000053702.15	transcript	ENST00000337508.9	protein_coding		156		chr12	TogoVar
NRIP2_chr12_2820348_2840035	2835190	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02155.hp1 HG02723.hp2 others(12): Show HG02074.hp2 HG02155.hp1 HG02723.hp2 NA18747.hp2 NA18906.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18967.hp2 NA18988.hp1 NA19056.hp2 NA19068.hp2 NA19076.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0005 a0001c0002t0002 a0001c0003t0002 a0001c0001t0005 a0001c0002t0002 a0001c0003t0002	a0001c0001t0005g0012 a0001c0002t0002g0003 a0001c0003t0002g0005 others(2): Show a0001c0001t0005g0012 a0001c0002t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0039 a0001c0003t0002g0083	15	422	0.0356	32	c.-20 others(41): Show c.-208_-207insTCTCTCTCACACACACACACACACACACACAC	NRIP2	ENSG00000053702.15	transcript	ENST00000337508.9	protein_coding		156		chr12	TogoVar
NRP1_chr10_33172493_33339667	33188910	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02976.hp2 NA19009.hp2 HG00597.hp2 HG02976.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0008 a0001c0002 a0001c0003 a0001c0008	a0001c0002t0004 a0001c0003t0003 a0001c0008t0003 a0001c0002t0004 a0001c0003t0003 a0001c0008t0003	a0001c0002t0004g0225 a0001c0003t0003g0121 a0001c0008t0003g0256 a0001c0002t0004g0225 a0001c0003t0003g0121 a0001c0008t0003g0256	3	262	0.0115	32	c.206 others(51): Show c.2063-2423_2063-2422insATATATATATATATATATATATATAT ATATAT	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	13/16			chr10	TogoVar
NRP2_chr2_205677501_205803131	205697312	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0138 a0001c0012t0004g0138	1	352	0.0028	32	c.74- others(45): Show c.74-230_74-199dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NRP2	ENSG00000118257.17	transcript	ENST00000357785.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NRP2_chr2_205677501_205803131	205784001	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0085 a0001c0003t0001g0085	1	352	0.0028	32	c.242 others(51): Show c.2426-8213_2426-8212insCACACACACACACACACACACACACA CACACA	NRP2	ENSG00000118257.17	transcript	ENST00000357785.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NRSN1_chr6_24121215_24152530	24150816	C C	CAAGAAAG others(25): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG01192.hp1 others(8): Show HG00639.hp1 HG01109.hp1 HG01192.hp1 HG02109.hp2 HG02258.hp2 HG03195.hp1 HG03669.hp1 NA18969.hp1 NA19058.hp1 NA19066.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0016	a0001c0001t0001g0095 a0001c0001t0001g0116 a0001c0001t0001g0123 others(8): Show a0001c0001t0001g0095 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0170 a0001c0001t0002g0004 a0001c0001t0002g0024 a0001c0001t0002g0064 a0001c0001t0003g0075 a0001c0001t0003g0213 a0001c0001t0008g0207 a0001c0001t0016g0172	11	406	0.0271	32	c.48 others(43): Show c.4870_*4871insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3287		chr6	TogoVar
NRSN1_chr6_24121215_24152530	24150881	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01192.hp2 others(2): Show HG00639.hp2 HG00738.hp1 HG01192.hp2 HG03017.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0001c0001t0001 a0001c0001t0012 a0001c0001t0016	a0001c0001t0001g0055 a0001c0001t0012g0003 a0001c0001t0016g0070 a0001c0001t0001g0055 a0001c0001t0012g0003 a0001c0001t0016g0070	5	406	0.0123	32	c.49 others(43): Show c.4935_*4936insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3352		chr6	TogoVar
NRXN1_chr2_49913503_51037132	50334209	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 NA21309.hp1 HG01109.hp2 HG01884.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0039 a0001c0001t0006 a0001c0001t0010 a0001c0001t0039	a0001c0001t0006g0023 a0001c0001t0010g0025 a0001c0001t0039g0044 a0001c0001t0006g0023 a0001c0001t0010g0025 a0001c0001t0039g0044	3	116	0.0259	32	c.336 others(53): Show c.3365-97240_3365-97239insCATACATATATATATATATATATA TATATATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAAA others(25): Show AAAGAAAAGAAAGAAGGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp2 HG01884.hp2 others(1): Show HG01169.hp1 HG01169.hp2 HG01884.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0017 a0001c0001t0025 others(1): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0025 a0001c0002t0040	a0001c0001t0002g0035 a0001c0001t0017g0065 a0001c0001t0025g0012 others(1): Show a0001c0001t0002g0035 a0001c0001t0017g0065 a0001c0001t0025g0012 a0001c0002t0040g0096	4	116	0.0345	32	c.336 others(53): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCCTTCTTT CTTTTCTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373690	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02886.hp1 HG02300.hp2 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0045 a0001c0002t0033 a0001c0002t0045	a0001c0002t0033g0097 a0001c0002t0045g0087 a0001c0002t0033g0097 a0001c0002t0045g0087	2	116	0.0172	32	c.336 others(53): Show c.3364+91751_3364+91752insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN3_chr14_78165373_79873291	78510040	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0024 a0001c0003t0009g0024	1	24	0.0417	32	c.758 others(53): Show c.758-135061_758-135060insATATATATATATATATATATATAT ATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79348378	C C	CTCTCTCT others(25): Show CTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0010 a0001c0007t0002g0010	1	24	0.0417	32	c.326 others(55): Show c.3263-118842_3263-118841insCTCTCTTTTTTTTTTTTTTTTT TTTTTTTTTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79504637	T T	TTATATAT others(25): Show TTATATATATATGTATATATGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0022 a0002c0005t0016g0022	1	24	0.0417	32	c.344 others(53): Show c.3444+37236_3444+37237insATATATATATGTATATATGTATAT ATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79508390	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0006	1	24	0.0417	32	c.344 others(53): Show c.3444+41004_3444+41005insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD2_chr4_1866393_1987192	1872591	T T	TGAGAGAG others(25): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0036 a0001c0004t0001g0036	1	130	0.0077	32	c.-30 others(49): Show c.-30+1063_-30+1094dupAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSG1_chr4_4382102_4424058	4411766	A A	AACACAAC others(25): Show AACACAACACAACACAACACAACACAACACAAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02280.hp2 HG02572.hp2 others(5): Show HG01106.hp2 HG02280.hp2 HG02572.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG03471.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0003g0017 others(3): Show a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0003g0017 a0001c0001t0003g0098 a0001c0001t0003g0150 a0001c0001t0003g0151	8	394	0.0203	32	c.357 others(49): Show c.357+2086_357+2087insCAACACAACACAACACAACACAACACAA CACA	NSG1	ENSG00000168824.15	transcript	ENST00000621129.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSG1_chr4_4382102_4424058	4411771	A A	AACACAAC others(25): Show AACACAACACAACACAACACAACACAACACAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG01099.hp1 others(10): Show HG00140.hp2 HG00280.hp1 HG01099.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG02145.hp2 HG02622.hp2 HG02723.hp1 HG02976.hp1 NA18960.hp1 NA18998.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0025 a0001c0001t0004g0056 a0001c0001t0004g0057 others(8): Show a0001c0001t0004g0025 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0005g0033 a0001c0001t0005g0165 a0001c0001t0005g0206	13	394	0.0330	32	c.357 others(49): Show c.357+2091_357+2092insCAACACAACACAACACAACACAACACAA CACA	NSG1	ENSG00000168824.15	transcript	ENST00000621129.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSG2_chr5_174040706_174114179	174080467	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCCCTCTTTCTTTCTTTCCCTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0223 a0001c0001t0019g0223	1	294	0.0034	32	c.213 others(51): Show c.213+16181_213+16212dupCCTCTTTCTTTCTTTCCCTCTTTCTT TCTTTC	NSG2	ENSG00000170091.11	transcript	ENST00000303177.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSMCE2_chr8_125086860_125372120	125316732	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp2 HG01934.hp2 others(6): Show HG00735.hp2 HG01891.hp2 HG01934.hp2 HG02004.hp1 HG02148.hp2 HG02300.hp2 HG03516.hp2 NA18522.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0091 a0001c0001t0001g0166 a0001c0001t0001g0203 others(6): Show a0001c0001t0001g0091 a0001c0001t0001g0166 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0222 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0003t0001g0137	9	244	0.0369	32	c.419 others(51): Show c.419-40479_419-40448dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTC	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125320233	A A	AGGGAAGG others(25): Show AGGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	244	0.0041	32	c.419 others(51): Show c.419-36986_419-36985insGGGAAGGGAGGGAGGGAGGGAGGGAG GGAGGG	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7			chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125320251	G G	GGGAGGGA others(25): Show GGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp1 HG02922.hp2 HG02622.hp2 HG02723.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0002g0134 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0002g0134	3	244	0.0123	32	c.419 others(51): Show c.419-36965_419-36964insGGGAGGGAGGGAGGGAGGGAAGGAAG GAAGGA	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125333505	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	244	0.0041	32	c.419 others(51): Show c.419-23687_419-23686insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSUN2_chr5_6594239_6638044	6601031	T T	TCTGACCT others(25): Show TCTGACCTAGATTTTAGGCTCCTAACGGCCGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19030.hp1 HG02055.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0017 a0001c0009 a0002c0017	a0001c0009t0001 a0002c0017t0001 a0001c0009t0001 a0002c0017t0001	a0001c0009t0001g0053 a0002c0017t0001g0054 a0001c0009t0001g0053 a0002c0017t0001g0054	2	438	0.0046	32	c.199 others(49): Show c.1998-831_1998-800dupCACGGCCGTTAGGAGCCTAAAATCTAGG TCAG	NSUN2	ENSG00000037474.15	transcript	ENST00000264670.11	protein_coding	18/18			chr5	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0201 a0003c0003t0003g0201	1	388	0.0026	32	c.754 others(47): Show c.754-454_754-453insAAAAAAAAAAAAAATATATATATATATATA TA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18962.hp2 NA18979.hp2 HG02155.hp1 NA18962.hp2 NA18979.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0008 a0003c0003t0047 a0003c0003t0003 a0003c0003t0008 a0003c0003t0047	a0003c0003t0003g0216 a0003c0003t0008g0206 a0003c0003t0047g0168 a0003c0003t0003g0216 a0003c0003t0008g0206 a0003c0003t0047g0168	3	388	0.0077	32	c.754 others(47): Show c.754-454_754-453insAAAAAAAAAAAATATATATATATATATATA TA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NT5DC4_chr2_112716020_112744095	112722921	C C	CAATCCTG others(25): Show CAATCCTGCCACTGGTGCTGCCCCCAAGGGGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(312): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0020 a0002c0002 others(16): Show a0001c0001 a0001c0020 a0002c0002 a0002c0011 a0003c0003 a0004c0004 a0004c0009 a0004c0019 a0005c0006 a0007c0007 a0008c0008 a0009c0010 a0010c0013 a0011c0012 a0012c0014 a0013c0015 a0014c0016 a0015c0017 a0016c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0020t0001 a0002c0002t0001 a0002c0011t0001 a0003c0003t0001 a0003c0003t0004 a0004c0004t0001 a0004c0009t0001 a0004c0019t0001 a0005c0006t0001 a0007c0007t0001 a0008c0008t0001 a0009c0010t0001 a0010c0013t0001 a0011c0012t0001 a0012c0014t0001 a0013c0015t0001 a0014c0016t0001 a0015c0017t0001 a0016c0018t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(248): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0003g0003 a0001c0001t0003g0208 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0217 a0001c0001t0005g0025 a0001c0001t0006g0234 a0001c0020t0001g0191 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0103 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0269 a0002c0011t0001g0015 a0002c0011t0001g0263 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0004g0078 a0003c0003t0004g0080 a0003c0003t0004g0081 a0004c0004t0001g0023 a0004c0004t0001g0024 a0004c0004t0001g0039 a0004c0004t0001g0040 a0004c0004t0001g0067 a0004c0004t0001g0068 a0004c0004t0001g0069 a0004c0004t0001g0070 a0004c0004t0001g0079 a0004c0004t0001g0083 a0004c0004t0001g0139 a0004c0004t0001g0253 a0004c0004t0001g0259 a0004c0004t0001g0276 a0004c0009t0001g0074 a0004c0009t0001g0075 a0004c0009t0001g0133 a0004c0019t0001g0098 a0005c0006t0001g0022 a0005c0006t0001g0061 a0005c0006t0001g0062 a0005c0006t0001g0063 a0005c0006t0001g0064 a0005c0006t0001g0065 a0007c0007t0001g0035 a0007c0007t0001g0141 a0007c0007t0001g0194 a0008c0008t0001g0250 a0008c0008t0001g0273 a0008c0008t0001g0274 a0008c0008t0001g0275 a0009c0010t0001g0158 a0009c0010t0001g0159 a0010c0013t0001g0086 a0010c0013t0001g0092 a0011c0012t0001g0071 a0012c0014t0001g0072 a0012c0014t0001g0073 a0013c0015t0001g0027 a0014c0016t0001g0183 a0015c0017t0001g0140 a0016c0018t0001g0090	315	364	0.8654	32	c.527 others(47): Show c.527+151_527+152insATCCTGCCACTGGTGCTGCCCCCAAGGGGT GA	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NT5DC4_chr2_112716020_112744095	112734169	A A	ATATATGT others(25): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0253 a0004c0004t0001g0253	1	364	0.0028	32	c.134 others(51): Show c.1344+4466_1344+4467insATATGTGTGTGTGTGTGTGTGTGTGT GTGTGT	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NTM_chr11_131365615_132341822	131730721	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01169.hp2 HG00741.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0018 a0001c0001t0002g0025	2	86	0.0233	32	c.83- others(51): Show c.83-180841_83-180840insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAGAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9204193	C C	CTCCTTCC others(25): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp2 HG01891.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0180 a0001c0001t0002g0008 a0001c0001t0002g0180	2	258	0.0078	32	c.141 others(53): Show c.1412-16946_1412-16945insCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN5_chr19_48656407_48678017	48677130	C C	CGAGATTT others(25): Show CGAGATTTCTGCCTATTGCTCATTCTCTCTAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	412	0.0024	32	c.-42 others(43): Show c.-4220_-4219insACTAGAGAGAATGAGCAATAGGCAGAAATCTC	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding		4114		chr19	TogoVar
NTNG1_chr1_107136039_107489923	107319865	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0056 a0001c0002t0014g0056	1	150	0.0067	32	c.247 others(49): Show c.247-4397_247-4396insTATATATATATATATATATATATATATA TATA	NTNG1	ENSG00000162631.20	transcript	ENST00000370068.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NTNG2_chr9_132157058_132249526	132208870	T T	TCCCTGTG others(25): Show TCCCTGTGCTACCCTTTGGAGCCACCCCCTGCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0258	1	358	0.0028	32	c.857 others(51): Show c.857+10264_857+10265insTGTGCTACCCTTTGGAGCCACCCCCT GCCCCC	NTNG2	ENSG00000196358.12	transcript	ENST00000393229.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK1_chr1_156855865_156886850	156869018	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03654.hp2 HG00621.hp2 HG03654.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0028 a0001c0001 a0013c0028	a0001c0001t0001 a0013c0028t0001 a0001c0001t0001 a0013c0028t0001	a0001c0001t0001g0140 a0013c0028t0001g0141 a0001c0001t0001g0140 a0013c0028t0001g0141	2	392	0.0051	32	c.717 others(47): Show c.717+412_717+443dupCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TT	NTRK1	ENSG00000198400.14	transcript	ENST00000524377.7	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
NTRK2_chr9_84664729_85032054	84888982	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	170	0.0059	32	c.163 others(53): Show c.1633+21577_1633+21578insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	85004091	A A	AAAGGAAG others(25): Show AAAGGAAGGGAGGAAGGGAGGAAGGGAGTGAGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG00735.hp2 others(60): Show HG00621.hp2 HG00642.hp1 HG00735.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04228.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18977.hp1 NA18977.hp2 NA18999.hp2 NA19010.hp2 NA19043.hp1 NA19060.hp2 NA19080.hp2 NA19240.hp2 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0002t0002 a0001c0002t0021 a0001c0003t0002 a0001c0003t0046 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0003c0006t0003	a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0154 others(60): Show a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0154 a0001c0001t0002g0007 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0056 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0157 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0078 a0001c0001t0003g0083 a0001c0001t0003g0088 a0001c0001t0003g0092 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0110 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0011g0134 a0001c0001t0015g0039 a0001c0001t0015g0137 a0001c0001t0016g0135 a0001c0001t0016g0159 a0001c0001t0019g0103 a0001c0001t0019g0118 a0001c0001t0020g0111 a0001c0001t0020g0112 a0001c0001t0021g0101 a0001c0001t0026g0153 a0001c0001t0028g0152 a0001c0001t0029g0051 a0001c0001t0030g0030 a0001c0001t0031g0059 a0001c0001t0032g0022 a0001c0001t0044g0150 a0001c0001t0045g0105 a0001c0001t0047g0085 a0001c0001t0048g0070 a0001c0001t0049g0096 a0001c0002t0002g0057 a0001c0002t0021g0081 a0001c0003t0002g0043 a0001c0003t0046g0114 a0001c0004t0002g0167 a0001c0004t0003g0091 a0001c0005t0001g0023 a0003c0006t0003g0087	63	170	0.3706	32	c.217 others(53): Show c.2173-16106_2173-16075dupGAGGAAGGGAGGAAGGGAGTGAGG AAGGAAGG	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTSR1_chr20_62703836_62767771	62767565	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0217 a0003c0004t0008g0217	1	316	0.0032	32	c.72 others(43): Show c.7298_*7299insAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4795		chr20	TogoVar
NTSR1_chr20_62703836_62767771	62767605	G G	GAAAGAAA others(25): Show GAAAGAAAGAGAGAGAGAAAGAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0010 a0002c0005t0010	a0002c0005t0010g0019 a0002c0005t0010g0020 a0002c0005t0010g0019 a0002c0005t0010g0020	2	316	0.0063	32	c.73 others(43): Show c.7338_*7339insAAAGAAAGAGAGAGAGAAAGAAGAAAGAAAGA	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4835		chr20	TogoVar
NTS_chr12_85869295_85887992	85877891	T T	TAACAATT others(25): Show TAACAATTATTAATGTGTGGAATGCATTACTAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	420	0.0024	32	c.136 others(47): Show c.136-453_136-422dupAACAATTATTAATGTGTGGAATGCATTACT AG	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTS_chr12_85869295_85887992	85879414	T T	TTTTATGT others(25): Show TTTTATGTATATTTTATGTATATTTTATGTATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02895.hp1 HG02897.hp1 others(1): Show HG00738.hp2 HG02895.hp1 HG02897.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0035 a0001c0001t0001g0048	4	420	0.0095	32	c.360 others(47): Show c.360+848_360+849insATGTATATTTTATGTATATTTTATGTATAT TT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTS_chr12_85869295_85887992	85879756	T T	TATATTTT others(25): Show TATATTTTATGTATATAAAATATATTTTTTGTA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	420	0.0024	32	c.360 others(49): Show c.360+1194_360+1195insATGTATATAAAATATATTTTTTGTAATA TTTT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTS_chr12_85869295_85887992	85879763	T T	TATGTATA others(25): Show TATGTATATAAAATATATTTTTTGTATATTTTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	420	0.0024	32	c.360 others(49): Show c.360+1194_360+1195insATGTATATAAAATATATTTTTTGTATAT TTTA	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3			chr12	TogoVar
NUBP1_chr16_10738842_10774351	10764620	A A	AGTCTATT others(25): Show AGTCTATTGGAGCATCTCAGTCTGCTGGAGTAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	424	0.0024	32	c.820 others(49): Show c.820+2792_820+2793insGGTCTATTGGAGCATCTCAGTCTGCTGG AGTA	NUBP1	ENSG00000103274.11	transcript	ENST00000283027.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr16	TogoVar

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