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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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
NUPR1_chr16_28527708_28543974	28535563	C C	CTTCCTTC others(20): Show CTTCCTTCTTTCTTTCTTTCTTTCTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0077 a0001c0001t0081g0077	1	368	0.0027	27	c.21 others(38): Show c.2119_*2120insAAAAGAAAGAAAGAAAGAAAGAAGGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCCTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02258.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0025 a0001c0001t0028g0025	2	368	0.0054	27	c.21 others(38): Show c.2119_*2120insAAAGAAAGAAGGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTTTCCTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0129	a0001c0001t0129g0100 a0001c0001t0129g0100	1	368	0.0027	27	c.21 others(38): Show c.2119_*2120insAAAGAAGGAAAGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUTF2_chr16_67841933_67877567	67842862	G G	GGCAGCAG others(20): Show GGCAGCAGCAGCAACAGCAGCAGCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	248	0.0040	27	c.-41 others(38): Show c.-4153_-4152insGCAGCAGCAGCAACAGCAGCAGCAGCA	NUTF2	ENSG00000102898.13	transcript	ENST00000219169.9	protein_coding		4070		chr16	TogoVar
NUTF2_chr16_67841933_67877567	67842875	A A	ACAGCAGC others(20): Show ACAGCAGCAGCAGCAGCAGCAGCAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	248	0.0040	27	c.-41 others(38): Show c.-4140_-4139insCAGCAGCAGCAGCAGCAGCAGCAGCAG	NUTF2	ENSG00000102898.13	transcript	ENST00000219169.9	protein_coding		4057		chr16	TogoVar
NUTF2_chr16_67841933_67877567	67842902	A A	ACAGCAGC others(20): Show ACAGCAGCAGCAGCAGCAACAGCAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	248	0.0040	27	c.-41 others(38): Show c.-4113_-4112insCAGCAGCAGCAGCAGCAACAGCAGCAG	NUTF2	ENSG00000102898.13	transcript	ENST00000219169.9	protein_coding		4030		chr16	TogoVar
NUTM2E_chr10_79821739_79855878	79826383	G G	GGGCGGCG others(20): Show GGGCGGCGGCGGCGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0011 a0005c0008t0002g0011	1	412	0.0024	27	c.-37 others(38): Show c.-3702_-3701insGGCGGCGGCGGCGGCGGCGGCGGCGGC	NUTM2E	ENSG00000228570.8	transcript	ENST00000429984.5	protein_coding		355		chr10	TogoVar
NUTM2F_chr9_94313198_94333644	94313476	A A	AATATATT others(20): Show AATATATTTAATATAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	322	0.0031	27	c.49 others(38): Show c.4988_*4989insATATATATATATTTATATTAAATATAT	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4721		chr9	TogoVar
NXNL1_chr19_17450425_17465926	17450797	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	408	0.0025	27	c.48 others(38): Show c.4849_*4850insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		4627		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA19011.hp1 NA18989.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0003 a0002c0002t0002g0075 a0001c0001t0001g0003 a0002c0002t0002g0075	2	408	0.0049	27	c.25 others(38): Show c.2531_*2532insAAAAAAATATATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 NA18981.hp1 HG02630.hp2 NA18981.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0009 a0002c0002t0002g0077 a0001c0001t0002g0009 a0002c0002t0002g0077	2	408	0.0049	27	c.25 others(38): Show c.2531_*2532insAAAAAAAAAAAAATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453116	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	408	0.0025	27	c.25 others(38): Show c.2530_*2531insTATATATATATATATATATATATATAT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2308		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17463795	A A	AAGGAGAA others(20): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	27	c.-29 others(38): Show c.-2927_-2926insCCTTCTCCTTCTCCTTCTCCTTCTCCT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2870		chr19	TogoVar
NXN_chr17_794310_984776	839797	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0108 a0001c0001t0005g0108	1	242	0.0041	27	c.361 others(46): Show c.361-13720_361-13719insTTTTTTTTTTTTTTTTTTTTTTTTTT T	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	839808	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	242	0.0041	27	c.361 others(46): Show c.361-13731_361-13730insGTTTTTTTTTTTTTTTTTTTTTTTTT T	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	979234	A A	AGGGCAGG others(20): Show AGGGCAGGGGGTAACGGGCGTGGGGGGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	242	0.0041	27	c.360 others(40): Show c.360+84_360+85insGCCCCCCACGCCCGTTACCCCCTGCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXPH2_chr2_138664157_138785390	138707094	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG04115.hp1 NA18965.hp1 others(1): Show HG01109.hp1 HG04115.hp1 NA18965.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0149 a0001c0001t0003g0218 a0001c0001t0003g0219 others(1): Show a0001c0001t0003g0149 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0002t0001g0089	4	350	0.0114	27	c.52- others(44): Show c.52-35430_52-35429insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding	1/1			chr2	TogoVar
NXPH2_chr2_138664157_138785390	138707107	A A	AAAAAAAC others(20): Show AAAAAAACAAAAAAAACAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0319 a0001c0003t0002g0319	1	350	0.0029	27	c.52- others(44): Show c.52-35443_52-35442insGTTTTTTTTTTGTTTTTTTTGTTTTTT	NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding	1/1			chr2	TogoVar
NYAP2_chr2_225394710_225708654	225597512	A A	AATTATAT others(20): Show AATTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	192	0.0052	27	c.161 others(48): Show c.1618+14479_1618+14480insTATATATATATATATATATATATA TAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
OBP2A_chr9_135541126_135554969	135544761	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02818.hp1 HG03471.hp1 HG02622.hp1 HG02818.hp1 HG03471.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0001 a0002c0002t0002 a0004c0004t0001	a0002c0002t0002g0006 a0002c0002t0002g0039 a0004c0004t0001g0034 a0002c0002t0002g0006 a0002c0002t0002g0039 a0004c0004t0001g0034	3	455	0.0066	27	c.-14 others(38): Show c.-1420_-1419insAAAAAAAAAAAAAAAAAAAAAAAAAAA	OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding		1364		chr9	TogoVar
OBP2A_chr9_135541126_135554969	135553058	A A	ACTCCGCC others(20): Show ACTCCGCCTCCCGGACCCGCCCCCACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03453.hp2 HG06807.hp2 HG02109.hp2 HG03453.hp2 HG06807.hp2	a0005 a0010 a0005 a0010	a0005c0006 a0010c0018 a0005c0006 a0010c0018	a0005c0006t0002 a0010c0018t0004 a0005c0006t0002 a0010c0018t0004	a0005c0006t0002g0037 a0010c0018t0004g0072 a0005c0006t0002g0037 a0010c0018t0004g0072	3	455	0.0066	27	c.32 others(38): Show c.3223_*3224insCTCCGCCTCCCGGACCCGCCCCCACGC	OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding		3090		chr9	TogoVar
OBP2B_chr9_133200279_133214250	133206655	T T	TCCTAACC others(20): Show TCCTAACCTTTACACATATCCCAGCACC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03579.hp2 HG02647.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	447	0.0045	27	c.389 others(42): Show c.389-240_389-239insGGTGCTGGGATATGTGTAAAGGTTAGG	OBP2B	ENSG00000171102.16	transcript	ENST00000372034.8	protein_coding	4/6			chr9	TogoVar
OC90_chr8_132019216_132064382	132028563	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0092 a0002c0003t0001g0092	1	408	0.0025	27	c.113 others(44): Show c.1138+509_1138+510insCCTTCCTTCCTTCTTTCTTTCTTTCTT	OC90	ENSG00000253117.5	transcript	ENST00000254627.4	protein_coding	13/13			chr8	TogoVar
OCSTAMP_chr20_46535946_46555654	46542574	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0189 a0001c0002t0002g0189	1	442	0.0023	27	c.104 others(44): Show c.1048-648_1048-647insTTTTTTTTTTTTTTTTTTTTTTTTTTT	OCSTAMP	ENSG00000149635.3	transcript	ENST00000279028.3	protein_coding	2/2			chr20	TogoVar
ODAD2_chr10_27807168_28004079	27885769	T T	TTATATAA others(20): Show TTATATAAAATATATATTATATATAATA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	304	0.0033	27	c.261 others(48): Show c.2610+21867_2610+21893dupTATTATATATAATATATATTTTAT ATA	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	17/19			chr10	TogoVar
ODF2L_chr1_86341837_86401323	86400628	A A	AATATAAT others(20): Show AATATAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	406	0.0025	27	c.-46 others(38): Show c.-4656_-4655insATATATATATATATATATATATTATAT	ODF2L	ENSG00000122417.16	transcript	ENST00000460698.7	protein_coding		4306		chr1	TogoVar
ODF2L_chr1_86341837_86401323	86400628	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	406	0.0025	27	c.-46 others(38): Show c.-4656_-4655insATATATATATATATATATATATATATA	ODF2L	ENSG00000122417.16	transcript	ENST00000460698.7	protein_coding		4306		chr1	TogoVar
ODF2_chr9_128451006_128506292	128470012	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	346	0.0029	27	c.669 others(42): Show c.669+659_669+660insTATATATATATATATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20			chr9	TogoVar
ODF2_chr9_128451006_128506292	128470014	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0247 a0001c0001t0004g0247	1	346	0.0029	27	c.669 others(42): Show c.669+661_669+662insTATATATATATATATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20			chr9	TogoVar
ODF2_chr9_128451006_128506292	128470016	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	346	0.0029	27	c.669 others(42): Show c.669+663_669+664insTATATATATATATATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20			chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0194 a0001c0001t0004g0194	1	346	0.0029	27	c.669 others(42): Show c.669+666_669+667insAAAAATATATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	346	0.0029	27	c.669 others(42): Show c.669+665_669+666insTATATATATATATATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20			chr9	TogoVar
ODF2_chr9_128451006_128506292	128497444	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	346	0.0029	27	c.226 others(44): Show c.2262-969_2262-968insTATATATATATATATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20			chr9	TogoVar
ODF2_chr9_128451006_128506292	128497446	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	346	0.0029	27	c.226 others(44): Show c.2262-966_2262-965insATATATATATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF3L2_chr19_458361_479983	477603	G G	GAAAAAAA others(20): Show GAAAAAAAGAACGCCTCCTCCCCATCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0002 a0009c0019t0002	a0009c0019t0002g0142 a0009c0019t0002g0142	1	324	0.0031	27	c.-28 others(38): Show c.-2857_-2856insGGGATGGGGAGGAGGCGTTCTTTTTTT	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		2621		chr19	TogoVar
ODF3_chr11_191761_205258	196578	C C	CTGGTGAG others(20): Show CTGGTGAGGGGACATGGTGAGGGGAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02486.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	388	0.0052	27	c.-47 others(36): Show c.-477_-476insTGGTGAGGGGACATGGTGAGGGGAGCA	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		182		chr11	TogoVar
OGFOD1_chr16_56446554_56484104	56480350	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	430	0.0023	27	c.41 others(38): Show c.4145_*4146insAAAAAAAAAAAAAAAAAAAAAAAAAAA	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1247		chr16	TogoVar
OGFOD1_chr16_56446554_56484104	56480352	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	430	0.0023	27	c.41 others(38): Show c.4147_*4148insAAAAAAAAAAAAAAAAAAAAAAAAAAA	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1249		chr16	TogoVar
OGFOD1_chr16_56446554_56484104	56480352	C C	CACAAAAA others(20): Show CACAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG04115.hp2 NA19010.hp2 HG03942.hp1 HG04115.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0017 a0001c0001t0002g0257 a0001c0002t0002g0062 a0001c0001t0002g0017 a0001c0001t0002g0257 a0001c0002t0002g0062	3	430	0.0070	27	c.41 others(38): Show c.4147_*4148insACAAAAAAAAAAAAAAAAAAAAAAAAA	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1249		chr16	TogoVar
OGFOD3_chr17_82384210_82423586	82401803	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp1 HG01928.hp1 others(6): Show HG00140.hp1 HG01175.hp1 HG01928.hp1 HG01928.hp2 HG02258.hp1 HG02300.hp1 NA18906.hp2 NA18961.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0002 a0001c0001t0006 a0001c0002t0006 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0006 a0001c0003t0002 a0002c0005t0002	a0001c0001t0002g0299 a0001c0001t0006g0062 a0001c0002t0006g0021 others(6): Show a0001c0001t0002g0299 a0001c0001t0006g0062 a0001c0002t0006g0021 a0001c0003t0002g0182 a0001c0003t0002g0247 a0001c0003t0002g0248 a0001c0003t0002g0274 a0001c0003t0002g0283 a0002c0005t0002g0139	9	348	0.0259	27	c.699 others(44): Show c.699+2133_699+2134insTTTTTTTTTTTTTTTTTTTTTTTTTTT	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding	7/8			chr17	TogoVar
OLFM1_chr9_135082668_135126180	135124595	A A	AGAAAGAA others(20): Show AGAAAGAAAAAGGAAAGAAAAGAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0054 a0001c0001t0005g0054	1	360	0.0028	27	c.44 others(38): Show c.4417_*4418insGAAAGAAAAAGGAAAGAAAAGAAAAAG	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3416		chr9	TogoVar
OLFM1_chr9_135082668_135126180	135124739	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	360	0.0028	27	c.45 others(38): Show c.4561_*4562insAAAGAAAGAAAGAAAGAAAGAAAGAAA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3560		chr9	TogoVar
OLFML2B_chr1_161978192_162028869	162022260	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0003 a0001c0028t0003	a0001c0028t0003g0283 a0001c0028t0003g0283	1	384	0.0026	27	c.174 others(42): Show c.174+996_174+997insGAAAAAAAAAAAAAAAAAAAAAAAAAA	OLFML2B	ENSG00000162745.11	transcript	ENST00000294794.8	protein_coding	1/7			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518277	G G	GAGGGGAG others(20): Show GAGGGGAGAGGGGAGAGGGGAGAGGGGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG01928.hp1 others(5): Show HG00597.hp2 HG00621.hp2 HG01928.hp1 HG02004.hp2 HG02129.hp2 HG02148.hp2 NA18972.hp2 NA19086.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0001c0001t0004 a0009c0010t0001 a0001c0001t0001 a0001c0001t0004 a0009c0010t0001	a0001c0001t0001g0126 a0001c0001t0001g0166 a0001c0001t0001g0167 others(5): Show a0001c0001t0001g0126 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0004g0202 a0001c0001t0004g0344 a0009c0010t0001g0193	8	384	0.0208	27	c.121 others(46): Show c.1215+8983_1215+8984insTCCCCTCTCCCCTCTCCCCTCTCCCC T	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518281	A A	AGAGGGGA others(20): Show AGAGGGGAGAGGGGAGAGGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18984.hp1 HG03471.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0143 a0001c0002t0002g0011 a0001c0001t0001g0143 a0001c0002t0002g0011	2	384	0.0052	27	c.121 others(46): Show c.1215+8979_1215+8980insCCCCTCTCCCCTCTCCCCTCTCCCCT C	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
ONECUT3_chr19_1748506_1785988	1763366	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0108 a0001c0001t0097g0108	1	370	0.0027	27	c.119 others(46): Show c.1192+8516_1192+8542dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	ONECUT3	ENSG00000205922.5	transcript	ENST00000382349.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
OPA1_chr3_193588208_193702811	193596306	T T	TTTCTTCC others(20): Show TTTCTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0332 a0001c0001t0002g0332	1	388	0.0026	27	c.32+ others(42): Show c.32+2899_32+2900insCTTCCTTTCCTTTCCTTTCCTTTCCTT	OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr3	TogoVar
OPA1_chr3_193588208_193702811	193684838	G G	GCCTAAAT others(20): Show GCCTAAATATAAAAGCCTAAAAATAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0349 a0001c0001t0022g0349	1	388	0.0026	27	c.298 others(46): Show c.2984-7225_2984-7224insCCTAAATATAAAAGCCTAAAAATAAA A	OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	29/30			chr3	TogoVar
OPCML_chr11_132409981_133537501	132818660	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18522.hp2 NA20129.hp2 HG03041.hp2 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0026 a0001c0001t0010 a0001c0001t0011 a0001c0001t0026	a0001c0001t0010g0061 a0001c0001t0011g0056 a0001c0001t0026g0053 a0001c0001t0010g0061 a0001c0001t0011g0056 a0001c0001t0026g0053	3	68	0.0441	27	c.146 others(48): Show c.146+124265_146+124266insATATATATATATATATATATATAT ATA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	2/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133035617	C C	CTCTTTCA others(20): Show CTCTTTCACGCCCTATTCAGTGCCCTAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	68	0.0147	27	c.62- others(44): Show c.62-92608_62-92607insATAGGGCACTGAATAGGGCGTGAAAGA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar

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