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
NXN_chr17_794310_984776	948933	C C	CCCCGTGG others(30): Show CCCCGTGGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	242	0.0041	37	c.360 others(56): Show c.360+30385_360+30386insAGAGGAGGAGGCCACGGGGAGAGGAG GAGGCCACGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949065	C C	CCCCCCTG others(30): Show CCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	242	0.0041	37	c.360 others(56): Show c.360+30253_360+30254insAGAGGAGGAGGCCGCGGGGAGAGGAG GAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949122	C C	CCCCCCTG others(30): Show CCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	242	0.0041	37	c.360 others(56): Show c.360+30196_360+30197insAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949221	G G	GCTGCCTC others(30): Show GCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0109 a0001c0001t0014g0109	1	242	0.0041	37	c.360 others(56): Show c.360+30097_360+30098insGGGGGAGAGGAGGAGGCAGGGGGAGA GGAGGAGGCAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949242	G G	GGCCTCCT others(30): Show GGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	242	0.0041	37	c.360 others(56): Show c.360+30076_360+30077insAGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949297	G G	GTGGCCTC others(30): Show GTGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0181	1	242	0.0041	37	c.360 others(56): Show c.360+30021_360+30022insGGGGGAGAGGAGGAGGCAGGGGGAGA GGAGGAGGCCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949413	G G	GCCTCCTC others(30): Show GCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03831.hp2 HG00735.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0191 a0001c0001t0003g0181 a0001c0001t0002g0191 a0001c0001t0003g0181	2	242	0.0083	37	c.360 others(56): Show c.360+29905_360+29906insAGGGGGGAGAGGAGGAGGCCGGGGGG AGAGGAGGAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949413	G G	GGCCTCCT others(30): Show GGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18948.hp1 NA18973.hp1 HG00544.hp1 NA18948.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0221 a0001c0001t0002g0087 a0001c0001t0002g0114 a0001c0001t0001g0221 a0001c0001t0002g0087 a0001c0001t0002g0114	3	242	0.0124	37	c.360 others(56): Show c.360+29905_360+29906insAGGGGGGAGAGGAGGAGGCAGGGGGA GAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949673	C C	CCCCCCGG others(30): Show CCCCCCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03130.hp1 NA19043.hp2 HG02809.hp2 HG03130.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0076 a0001c0001t0007g0040 a0001c0001t0007g0073 a0001c0001t0001g0076 a0001c0001t0007g0040 a0001c0001t0007g0073	3	242	0.0124	37	c.360 others(56): Show c.360+29645_360+29646insAGAGGAGGAGGCCGCGGGGAGAGGAG GAGGCCGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949673	C C	CCCCGCGG others(30): Show CCCCGCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG01099.hp2 others(7): Show HG00323.hp2 HG00735.hp1 HG01099.hp2 HG01975.hp2 HG02683.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp2 NA18952.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0001t0023	a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0146 others(7): Show a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0189 a0001c0001t0002g0136 a0001c0001t0002g0191 a0001c0001t0003g0181 a0001c0001t0005g0108 a0001c0001t0019g0004 a0001c0001t0023g0052	10	242	0.0413	37	c.360 others(56): Show c.360+29645_360+29646insAGAGGAGGAGGCCGGGGGGAGAGGAG GAGGCCGCGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OCA2_chr15_27749875_28104315	28069402	C C	CTCCCTCT others(30): Show CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0029 a0001c0031t0001g0029	1	110	0.0091	37	c.227 others(56): Show c.227+12245_227+12246insAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	2/23			chr15	TogoVar
ODAD2_chr10_27807168_28004079	27885596	A A	ATATAAAA others(30): Show ATATAAAATATATATTATATATATTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18959.hp1 NA19074.hp1 HG03579.hp1 NA18959.hp1 NA19074.hp1	a0002 a0006 a0002 a0006	a0002c0003 a0006c0005 a0002c0003 a0006c0005	a0002c0003t0001 a0006c0005t0002 a0002c0003t0001 a0006c0005t0002	a0002c0003t0001g0156 a0006c0005t0002g0234 a0006c0005t0002g0241 a0002c0003t0001g0156 a0006c0005t0002g0234 a0006c0005t0002g0241	3	304	0.0099	37	c.261 others(58): Show c.2610+22066_2610+22067insATATATTATATATAATATATATAA TATATATTTTATA	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	17/19			chr10	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	346	0.0029	37	c.669 others(52): Show c.669+665_669+666insTATATATATATATATATATATATATATATA TATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20			chr9	TogoVar
ODF3_chr11_191761_205258	196181	G G	GGGGGGAC others(30): Show GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	388	0.0026	37	c.-87 others(46): Show c.-874_-873insGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT A	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		579		chr11	TogoVar
OGFOD1_chr16_56446554_56484104	56480366	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	430	0.0023	37	c.41 others(48): Show c.4161_*4162insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1263		chr16	TogoVar
OMA1_chr1_58475719_58551726	58496158	A A	ATTTTTTC others(30): Show ATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	384	0.0026	37	c.136 others(56): Show c.1365+9901_1365+9902insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAAAAA	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	8/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518264	A A	AGGGGAGA others(30): Show AGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03579.hp1 NA18941.hp1 HG02965.hp2 HG03579.hp1 NA18941.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0151 a0001c0001t0001g0338 a0003c0004t0001g0049 a0001c0001t0001g0151 a0001c0001t0001g0338 a0003c0004t0001g0049	3	384	0.0078	37	c.121 others(56): Show c.1215+8996_1215+8997insCCTCTCCCCTCTCCCCTCTCCCCTCT CCCCTCTCCCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518272	G G	GGGGAGAG others(30): Show GGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03942.hp1 HG04115.hp1 others(1): Show HG00408.hp1 HG03942.hp1 HG04115.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0183 a0001c0001t0001g0184	4	384	0.0104	37	c.121 others(56): Show c.1215+8988_1215+8989insTCCTCTCCCCTCTCCCCTCTCCCCTC TCCCCTCTCCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OPA3_chr19_45541281_45589802	45580293	C C	CGGGTGGG others(30): Show CGGGTGGGCAAGGGTTTTTTCATTTTTTTTTTGTTTTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0339 a0001c0001t0111g0339	1	398	0.0025	37	c.142 others(54): Show c.142+4329_142+4330insTAAAACAAAAAAAAAATGAAAAAACCCT TGCCCACCC	OPA3	ENSG00000125741.6	transcript	ENST00000263275.5	protein_coding	1/1			chr19	TogoVar
OPN5_chr6_47777032_47831381	47819353	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	322	0.0031	37	c.105 others(56): Show c.1057-4630_1057-4629insTATATATATATATATATATATATATA TATATATATAT	OPN5	ENSG00000124818.16	transcript	ENST00000371211.7	protein_coding	6/6			chr6	TogoVar
OR10A4_chr11_6871625_6882619	6880385	G G	GAGGGATG others(30): Show GAGGGATGGGTGTTTCTTTTTATTTTATTTTTTAGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	446	0.0022	37	c.27 others(48): Show c.2790_*2791insAGGGATGGGTGTTTCTTTTTATTTTATTTTTTAG GTT	OR10A4	ENSG00000170782.3	transcript	ENST00000379829.2	protein_coding		2767		chr11	TogoVar
OR10G7_chr11_124031013_124046325	124034383	T T	TTTTTTTG others(30): Show TTTTTTTGTTTTTTTTTTTTTTCATTTTGTTCATTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0014 a0001c0010t0004g0014	1	482	0.0021	37	c.36 others(48): Show c.3682_*3683insCAAAATGAACAAAATGAAAAAAAAAAAAAACAAA AAA	OR10G7	ENSG00000182634.9	transcript	ENST00000641585.1	protein_coding		1629		chr11	TogoVar
OR10G8_chr11_124021798_124035634	124034383	T T	TTTTTTTG others(30): Show TTTTTTTGTTTTTTTTTTTTTTCATTTTGTTCATTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0002 a0001c0004t0001g0002	1	446	0.0022	37	c.38 others(48): Show c.3825_*3826insTTTTTTGTTTTTTTTTTTTTTCATTTTGTTCATT TTG	OR10G8	ENSG00000234560.5	transcript	ENST00000641224.2	protein_coding		3750		chr11	TogoVar
OR11L1_chr1_247835928_247846896	247840331	T T	TCCTCCTT others(30): Show TCCTCCTTCCTTTCCCTCCCTCCCTCCCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02895.hp1 HG03579.hp1 others(6): Show HG02027.hp1 HG02895.hp1 HG03579.hp1 HG03927.hp1 HG06807.hp2 NA18957.hp2 NA18969.hp2 NA18986.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0000 a0001c0002t0000 a0001c0001t0000 a0001c0002t0000	a0001c0001t0000g0000 a0001c0002t0000g0000 a0001c0001t0000g0000 a0001c0002t0000g0000	9	394	0.0228	37	c.59 others(46): Show c.596_*597insGAGGGAGGGAGGGAGGGAGGGAGGGAAAGGAAGGAG G	OR11L1	ENSG00000197591.3	transcript	ENST00000355784.3	protein_coding		596		chr1	TogoVar
OR13D1_chr9_104689518_104700462	104696099	A A	AAGAAAAG others(30): Show AAGAAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0000 a0004c0005t0000	a0004c0005t0000g0000 a0004c0005t0000g0000	1	396	0.0025	37	c.63 others(46): Show c.637_*638insAGAAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAA G	OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding		638		chr9	TogoVar
OR13D1_chr9_104689518_104700462	104696107	A A	AAAAAGAA others(30): Show AAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0000 a0002c0008t0000	a0002c0008t0000g0000 a0002c0008t0000g0000	1	396	0.0025	37	c.64 others(46): Show c.645_*646insAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding		646		chr9	TogoVar
OR13D1_chr9_104689518_104700462	104696107	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01934.hp1 HG02155.hp2 others(5): Show HG00639.hp1 HG01934.hp1 HG02155.hp2 NA18972.hp1 NA18981.hp2 NA18984.hp2 NA18997.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	8	396	0.0202	37	c.64 others(46): Show c.645_*646insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding		646		chr9	TogoVar
OR13D1_chr9_104689518_104700462	104696151	G G	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03516.hp2 HG02970.hp2 HG03516.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0000 a0008c0010t0000 a0001c0001t0000 a0008c0010t0000	a0001c0001t0000g0000 a0008c0010t0000g0000 a0001c0001t0000g0000 a0008c0010t0000g0000	2	396	0.0051	37	c.68 others(46): Show c.689_*690insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG A	OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding		690		chr9	TogoVar
OR1F1_chr16_3183204_3211556	3188054	A A	AGAAAAGA others(30): Show AGAAAAGAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA19004.hp1 NA18971.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0222 a0001c0001t0003g0223	2	328	0.0061	37	c.-58 others(46): Show c.-588_-587insGAAAAGAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA G	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding		149		chr16	TogoVar
OR1L3_chr9_122670130_122681104	122670838	A A	AAGAGAGA others(30): Show AAGAGAGAGAGAGAGGAAGGAAGGAAGGAAGGAAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	380	0.0026	37	c.-42 others(48): Show c.-4292_-4291insAGAGAGAGAGAGAGGAAGGAAGGAAGGAAGGAAA GGG	OR1L3	ENSG00000171481.5	transcript	ENST00000304820.5	protein_coding		4291		chr9	TogoVar
OR2A42_chr7_144223244_144244605	144223648	A A	AAATTCAG others(30): Show AAATTCAGATAAAATTGAATTCAGATAAAATTGAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0061 a0001c0004t0061	a0001c0004t0061g0116 a0001c0004t0061g0116	1	162	0.0062	37	c.82 others(48): Show c.8262_*8263insATTTTCAATTTTATCTGAATTCAATTTTATCTGA ATT	OR2A42	ENSG00000212807.3	transcript	ENST00000641810.1	protein_coding		4595		chr7	TogoVar
OR2AP1_chr12_55567468_55580612	55573498	T T	TCCCCCAT others(30): Show TCCCCCATCTCATCCCCCCCCCCCCCCTCCACCCATTC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	478	0.0021	37	c.-19 others(54): Show c.-195-718_-195-717insCATCTCATCCCCCCCCCCCCCCTCCACC CATTCCCCC	OR2AP1	ENSG00000179615.3	transcript	ENST00000641114.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
OR2L13_chr1_248090184_248106163	248103110	A A	ATTAATTT others(30): Show ATTAATTTAATTAAATAATAAATAAATTAATTATTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(164): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02451.hp2 HG02559.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp2 NA19079.hp1 NA19082.hp1 NA19086.hp1 NA19087.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 others(2): Show a0001 a0004 a0007 a0008 a0009	a0001c0001 a0004c0005 a0007c0007 others(2): Show a0001c0001 a0004c0005 a0007c0007 a0008c0012 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0004c0005t0001 a0007c0007t0001 a0008c0012t0001 a0009c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0077 a0001c0001t0002g0092 a0001c0001t0006g0017 a0001c0001t0006g0043 a0001c0001t0006g0080 a0001c0001t0009g0002 a0001c0001t0012g0014 a0001c0001t0015g0013 a0004c0005t0001g0009 a0004c0005t0001g0090 a0007c0007t0001g0001 a0007c0007t0001g0040 a0008c0012t0001g0089 a0009c0008t0001g0008	167	440	0.3796	37	c.27 others(48): Show c.2796_*2797insTTAATTTAATTAAATAATAAATAAATTAATTATT AAT	OR2L13	ENSG00000196071.6	transcript	ENST00000358120.4	protein_coding		1948		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248404560	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0154 a0001c0001t0011g0154	1	266	0.0038	37	c.-34 others(54): Show c.-34+1315_-34+1316insTATATATATATATATATATATATATATA TATATATAT	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding	1/1			chr1	TogoVar
OR2T34_chr1_248568801_248579757	248569909	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA18946.hp1 NA18991.hp1 others(2): Show HG02074.hp1 NA18946.hp1 NA18991.hp1 NA19004.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	5	314	0.0159	37	c.38 others(48): Show c.3891_*3892insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	OR2T34	ENSG00000183310.3	transcript	ENST00000328782.3	protein_coding		3891		chr1	TogoVar
OR3A2_chr17_3271177_3391308	3367599	G G	GTATATAT others(30): Show GTATATATATTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02155.hp2 HG02818.hp2 others(2): Show HG00438.hp1 HG02155.hp2 HG02818.hp2 HG03041.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007	a0002c0002t0004g0298 a0002c0002t0005g0221 a0002c0002t0005g0226 others(2): Show a0002c0002t0004g0298 a0002c0002t0005g0221 a0002c0002t0005g0226 a0002c0002t0007g0285 a0002c0002t0007g0292	5	318	0.0157	37	c.-37 others(58): Show c.-377+18525_-377+18526insTATATATATATATATATATATATA TATAATATATATA	OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	1/4			chr17	TogoVar
OR4D10_chr11_59468315_59484361	59483789	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	430	0.0023	37	c.54 others(48): Show c.5424_*5425insTATATATATATATATATATATATATATATATATA TAT	OR4D10	ENSG00000254466.2	transcript	ENST00000530162.2	protein_coding		4429		chr11	TogoVar
OR4M1_chr14_19768504_19788696	19787251	C C	CCTTCCTT others(30): Show CCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01074.hp2 HG02109.hp2 others(9): Show HG00558.hp1 HG01074.hp2 HG02109.hp2 HG02976.hp1 HG03195.hp1 HG03195.hp2 HG03654.hp2 HG04184.hp1 HG04204.hp1 NA18972.hp2 NA19078.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0003 a0002c0002t0006 others(3): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0013 a0002c0002t0016 a0003c0003t0009	a0001c0001t0001g0033 a0001c0001t0001g0047 a0002c0002t0003g0004 others(7): Show a0001c0001t0001g0033 a0001c0001t0001g0047 a0002c0002t0003g0004 a0002c0002t0006g0002 a0002c0002t0006g0003 a0002c0002t0006g0004 a0002c0002t0006g0030 a0002c0002t0013g0002 a0002c0002t0016g0002 a0003c0003t0009g0024	12	276	0.0435	37	c.59 others(48): Show c.5987_*5988insCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTTTC TTT	OR4M1	ENSG00000176299.5	transcript	ENST00000641200.1	protein_coding		3556		chr14	TogoVar
OR4S1_chr11_48301223_48312152	48305943	A A	ATATAATA others(30): Show ATATAATATATATTATATATTATATATATAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19065.hp1 NA19011.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	2	426	0.0047	37	c.-28 others(46): Show c.-280_-279insTATAATATATATTATATATTATATATATAATATATA T	OR4S1	ENSG00000176555.1	transcript	ENST00000319988.1	protein_coding		279		chr11	TogoVar
OR4S1_chr11_48301223_48312152	48306011	A A	AATAATAT others(30): Show AATAATATATTATATATATTATATATATATAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	1	426	0.0024	37	c.-21 others(46): Show c.-212_-211insATAATATATTATATATATTATATATATATAATATAT T	OR4S1	ENSG00000176555.1	transcript	ENST00000319988.1	protein_coding		211		chr11	TogoVar
OR7A10_chr19_14835466_14853922	14844664	G G	GTTTTTTT others(30): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG06807.hp1 HG01192.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0051 a0001c0002t0003g0051	2	488	0.0041	37	c.-12 others(54): Show c.-12-2776_-12-2775insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	OR7A10	ENSG00000127515.3	transcript	ENST00000641129.1	protein_coding	1/1			chr19	TogoVar
OR7A17_chr19_14873203_14891132	14879601	T T	TCCACCTG others(30): Show TCCACCTGGAAAGAGTAAGAAGGTAAAATTTCTATCAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0143 a0001c0001t0068g0143	1	444	0.0023	37	c.82 others(46): Show c.824_*825insTTGATAGAAATTTTACCTTCTTACTCTTTCCAGGTG G	OR7A17	ENSG00000185385.5	transcript	ENST00000641113.1	protein_coding	3/3	824		chr19	TogoVar
ORC3_chr6_87585135_87672451	87644079	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03516.hp2 NA18981.hp2 HG00140.hp2 HG03516.hp2 NA18981.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0165 a0001c0001t0001g0207 a0006c0009t0001g0190 a0001c0001t0001g0165 a0001c0001t0001g0207 a0006c0009t0001g0190	3	378	0.0079	37	c.138 others(56): Show c.1382+7624_1382+7625insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	ORC3	ENSG00000135336.16	transcript	ENST00000392844.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ORC6_chr16_46684659_46703394	46685950	T T	TCAGTGGC others(30): Show TCAGTGGCATTAGGTACATTCACATTAATACAATTACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0091 a0001c0001t0013g0091	1	368	0.0027	37	c.-37 others(48): Show c.-3756_-3755insCAGTGGCATTAGGTACATTCACATTAATACAATT ACC	ORC6	ENSG00000091651.9	transcript	ENST00000219097.7	protein_coding		3708		chr16	TogoVar
OSBPL10_chr3_31655825_31986262	31761813	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0008 a0003c0008t0002g0008	1	186	0.0054	37	c.730 others(56): Show c.730-13694_730-13693insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL2_chr20_62233521_62301183	62290736	T T	TTTTTTTT others(30): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	348	0.0029	37	c.125 others(54): Show c.1250-961_1250-960insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTATTTTTT	OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
OSBPL3_chr7_24791540_24985178	24917382	C C	CATATATA others(30): Show CATATATATATATTTGTAACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03831.hp2 HG01358.hp1 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0168 a0001c0002t0001g0162 a0001c0002t0001g0168	2	326	0.0061	37	c.-14 others(58): Show c.-149-24798_-149-24762dupATATATATATATATATATGTTACA AATATATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSBPL3_chr7_24791540_24985178	24917401	C C	CATATATA others(30): Show CATATATATATATATATATATATATATATTTGTAACAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	326	0.0031	37	c.-14 others(58): Show c.-149-24781_-149-24780insATGTTACAAATATATATATATATA TATATATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSBPL3_chr7_24791540_24985178	24917403	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATTTGTAAC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0153	1	326	0.0031	37	c.-14 others(58): Show c.-149-24783_-149-24782insGTTACAAATATATATATATATATA TATATATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSBPL3_chr7_24791540_24985178	24917411	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATTTGTAAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	326	0.0031	37	c.-14 others(58): Show c.-149-24791_-149-24790insGTTACAAATATATATATATATATA TATATATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar

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