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
OPCML_chr11_132409981_133537501	133204886	A A	ATATATAT others(33): Show ATATATATATATGTGTGTATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	68	0.0147	40	c.62- others(59): Show c.62-261877_62-261876insCACACATATATATATATATATATACA CACATATATATATA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133373448	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0033 a0001c0001t0020g0033	1	68	0.0147	40	c.61+ others(59): Show c.61+158815_61+158816insGTGTGTGTATATATATATATATATAT ATATATATATATAT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133458476	G G	GTATATAT others(33): Show GTATATATATACACAAATATACACGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	68	0.0147	40	c.61+ others(57): Show c.61+73787_61+73788insTATATATATACACACACGTGTATATTTG TGTATATATATA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133458476	G G	GTATATAT others(33): Show GTATATATATATATATACACAAATATACACGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	68	0.0147	40	c.61+ others(57): Show c.61+73787_61+73788insTATACACACACGTGTATATTTGTGTATA TATATATATATA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPHN1_chrX_68037344_68438495	68287156	G G	GGAAAGAA others(33): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	155	0.0065	40	c.251 others(57): Show c.251-4040_251-4039insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	3/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68317338	G G	GGAAAGAA others(33): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0037 a0001c0001t0023g0037	1	155	0.0065	40	c.155 others(59): Show c.155-18282_155-18243dupTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68317376	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0099 a0001c0001t0020g0099	1	155	0.0065	40	c.155 others(59): Show c.155-18281_155-18280insCCTTCCTTCCTTTCTTCCTTTCTTTC TTTCTTTCTTTCTT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68426569	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp1 HG03130.hp1 others(1): Show HG02280.hp2 HG02886.hp1 HG03130.hp1 HG03710.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0003c0004t0014	a0001c0001t0001g0082 a0001c0001t0004g0011 a0001c0001t0007g0032 others(1): Show a0001c0001t0001g0082 a0001c0001t0004g0011 a0001c0001t0007g0032 a0003c0004t0014g0102	4	155	0.0258	40	c.154 others(57): Show c.154+6297_154+6298insTTATATATATATATATATATATATATAT ATATATATATAT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPN5_chr6_47777032_47831381	47819336	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01515.hp2 HG01981.hp1 others(11): Show HG01123.hp2 HG01515.hp2 HG01981.hp1 HG02056.hp1 HG02074.hp1 HG02273.hp1 HG03688.hp1 NA18954.hp1 NA18954.hp2 NA18961.hp1 NA19001.hp2 NA19054.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0174 others(11): Show a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0212 a0001c0001t0001g0237 a0001c0001t0001g0249 a0001c0001t0001g0259 a0001c0001t0001g0278 a0001c0001t0003g0060 a0001c0001t0004g0141 a0001c0001t0004g0163 a0001c0001t0004g0197	14	322	0.0435	40	c.105 others(59): Show c.1057-4630_1057-4629insTATATATATATATATATATATATATA TATATATATATATA	OPN5	ENSG00000124818.16	transcript	ENST00000371211.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPN5_chr6_47777032_47831381	47819352	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA18522.hp1 HG01981.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0231 a0001c0001t0002g0046 a0001c0001t0001g0231 a0001c0001t0002g0046	2	322	0.0062	40	c.105 others(59): Show c.1057-4630_1057-4629insTATATATATATATATATATATATATA TATATATATATAAA	OPN5	ENSG00000124818.16	transcript	ENST00000371211.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPN5_chr6_47777032_47831381	47831061	T T	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0262 a0001c0001t0026g0262	1	322	0.0031	40	c.70 others(51): Show c.7070_*7071insCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCC TCCCTC	OPN5	ENSG00000124818.16	transcript	ENST00000371211.7	protein_coding		4681		chr6	TogoVar
OPTN_chr10_13095163_13143308	13114762	A A	ATATATAA others(33): Show ATATATAATTATATAATTATATAATTATATAATTATATAAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	418	0.0024	40	c.553 others(57): Show c.553-1467_553-1466insATTATATAATTATATAATTATATAATTA TATAATTATATA	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OR10A6_chr11_7919592_7936268	7929755	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0169 a0002c0002t0169	a0002c0002t0169g0123 a0002c0002t0169g0123	1	441	0.0023	40	c.-10 others(51): Show c.-1094_-1093insGTATATATATATATATATATATATATATATATAT ATATAT	OR10A6	ENSG00000279000.4	transcript	ENST00000641238.1	protein_coding	4/4	1094		chr11	TogoVar
OR10A6_chr11_7919592_7936268	7929966	G G	GTATATAT others(33): Show GTATATATATGTATATATATATATATATATATATATATATA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0211 a0002c0002t0211	a0002c0002t0211g0166 a0002c0002t0211g0166	1	441	0.0023	40	c.-13 others(51): Show c.-1305_-1304insTATATATATATATATATATATATATATATACATA TATATA	OR10A6	ENSG00000279000.4	transcript	ENST00000641238.1	protein_coding	4/4	1305		chr11	TogoVar
OR10G7_chr11_124031013_124046325	124033055	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0004 a0004c0004t0002g0004	1	482	0.0021	40	c.50 others(51): Show c.5010_*5011insTATATATATATATATATATATATATATATATATA TATATA	OR10G7	ENSG00000182634.9	transcript	ENST00000641585.1	protein_coding		2957		chr11	TogoVar
OR10G7_chr11_124031013_124046325	124033057	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0013 a0004c0004t0009g0013	1	482	0.0021	40	c.50 others(51): Show c.5008_*5009insTATATATATATATATATATATATATATATAGAGA GAGAGA	OR10G7	ENSG00000182634.9	transcript	ENST00000641585.1	protein_coding		2955		chr11	TogoVar
OR10G7_chr11_124031013_124046325	124033057	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0004 a0004c0004t0002g0004	1	482	0.0021	40	c.50 others(51): Show c.5008_*5009insTATATATATATATATATATATATAGAGAGAGAGA GAGAGA	OR10G7	ENSG00000182634.9	transcript	ENST00000641585.1	protein_coding		2955		chr11	TogoVar
OR10G8_chr11_124021798_124035634	124033055	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	446	0.0022	40	c.24 others(51): Show c.2497_*2498insTATATATATATATATATATATATATATATATATA TATATA	OR10G8	ENSG00000234560.5	transcript	ENST00000641224.2	protein_coding		2422		chr11	TogoVar
OR10G8_chr11_124021798_124035634	124033057	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	446	0.0022	40	c.24 others(51): Show c.2499_*2500insTCTCTCTCTCTATATATATATATATATATATATA TATATA	OR10G8	ENSG00000234560.5	transcript	ENST00000641224.2	protein_coding		2424		chr11	TogoVar
OR10G8_chr11_124021798_124035634	124033057	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	446	0.0022	40	c.24 others(51): Show c.2499_*2500insTCTCTCTCTCTCTCTCTATATATATATATATATA TATATA	OR10G8	ENSG00000234560.5	transcript	ENST00000641224.2	protein_coding		2424		chr11	TogoVar
OR10H1_chr19_15799549_15820664	15801375	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01071.hp2 HG01109.hp1 others(12): Show HG00621.hp1 HG01071.hp2 HG01109.hp1 HG01978.hp1 HG02451.hp2 HG02683.hp2 HG03098.hp1 HG03239.hp2 HG03834.hp1 HG03942.hp2 NA18943.hp2 NA18990.hp1 NA19056.hp2 NA19084.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0038 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0038 a0001c0002t0001 a0001c0002t0019 a0002c0003t0047	a0001c0001t0001g0032 a0001c0001t0002g0138 a0001c0001t0038g0060 others(12): Show a0001c0001t0001g0032 a0001c0001t0002g0138 a0001c0001t0038g0060 a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0030 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0086 a0001c0002t0001g0094 a0001c0002t0019g0031 a0002c0003t0047g0101	15	398	0.0377	40	c.57 others(51): Show c.5705_*5706insATATATATATATATATATATATATATATATATAT ATATAT	OR10H1	ENSG00000186723.4	transcript	ENST00000641419.1	protein_coding		3173		chr19	TogoVar
OR10H5_chr19_15782661_15805357	15801375	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01071.hp1 HG01109.hp1 others(13): Show HG00621.hp1 HG01071.hp1 HG01109.hp1 HG01978.hp1 HG02451.hp1 HG02683.hp1 HG03098.hp2 HG03239.hp2 HG03834.hp1 HG03942.hp1 NA18943.hp1 NA18990.hp1 NA19056.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp2	a0001 a0010 a0001 a0010	a0001c0002 a0010c0013 a0001c0002 a0010c0013	a0001c0002t0003 a0001c0002t0009 a0001c0002t0012 others(6): Show a0001c0002t0003 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0041 a0001c0002t0043 a0001c0002t0106 a0010c0013t0108 a0010c0013t0109	a0001c0002t0003g0002 a0001c0002t0003g0016 a0001c0002t0003g0033 others(8): Show a0001c0002t0003g0002 a0001c0002t0003g0016 a0001c0002t0003g0033 a0001c0002t0009g0002 a0001c0002t0012g0002 a0001c0002t0013g0002 a0001c0002t0041g0002 a0001c0002t0043g0013 a0001c0002t0106g0055 a0010c0013t0108g0077 a0010c0013t0109g0080	16	396	0.0404	40	c.63 others(51): Show c.6379_*6380insATATATATATATATATATATATATATATATATAT ATATAT	OR10H5	ENSG00000172519.10	transcript	ENST00000642092.2	protein_coding		1019		chr19	TogoVar
OR13D1_chr9_104689518_104700462	104696164	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	396	0.0025	40	c.70 others(49): Show c.702_*703insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGG	OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding		703		chr9	TogoVar
OR1E1_chr17_3392104_3403410	3399162	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 NA18994.hp1 NA19007.hp2 HG03831.hp2 NA18994.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0001t0001g0000 a0001c0003t0001g0000	3	380	0.0079	40	c.-75 others(49): Show c.-753_-752insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	OR1E1	ENSG00000180016.2	transcript	ENST00000322608.2	protein_coding		753		chr17	TogoVar
OR1E1_chr17_3392104_3403410	3399209	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	380	0.0026	40	c.-80 others(49): Show c.-800_-799insCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	OR1E1	ENSG00000180016.2	transcript	ENST00000322608.2	protein_coding		800		chr17	TogoVar
OR1E1_chr17_3392104_3403410	3399209	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	380	0.0026	40	c.-80 others(49): Show c.-800_-799insCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	OR1E1	ENSG00000180016.2	transcript	ENST00000322608.2	protein_coding		800		chr17	TogoVar
OR1E1_chr17_3392104_3403410	3399209	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18944.hp1 NA18967.hp2 NA18943.hp2 NA18944.hp1 NA18967.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	3	380	0.0079	40	c.-80 others(49): Show c.-800_-799insCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	OR1E1	ENSG00000180016.2	transcript	ENST00000322608.2	protein_coding		800		chr17	TogoVar
OR1E1_chr17_3392104_3403410	3399209	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 NA18939.hp2 NA19077.hp2 HG02886.hp2 NA18939.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0000 a0001c0003t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000	3	380	0.0079	40	c.-80 others(49): Show c.-800_-799insCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTC	OR1E1	ENSG00000180016.2	transcript	ENST00000322608.2	protein_coding		800		chr17	TogoVar
OR1E1_chr17_3392104_3403410	3399209	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	380	0.0026	40	c.-80 others(49): Show c.-800_-799insCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTC TTTC	OR1E1	ENSG00000180016.2	transcript	ENST00000322608.2	protein_coding		800		chr17	TogoVar
OR1E1_chr17_3392104_3403410	3399258	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGGAAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 NA18951.hp2 NA18983.hp1 others(4): Show HG02071.hp2 NA18951.hp2 NA18983.hp1 NA18992.hp2 NA19004.hp1 NA19004.hp2 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	7	380	0.0184	40	c.-84 others(49): Show c.-849_-848insTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTTCCTT CCTT	OR1E1	ENSG00000180016.2	transcript	ENST00000322608.2	protein_coding		849		chr17	TogoVar
OR1F1_chr16_3183204_3211556	3188050	G G	GAAAAGAA others(33): Show GAAAAGAAAAGAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 NA18522.hp2 HG01884.hp1 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0003 a0001c0001t0002 a0004c0004t0003	a0001c0001t0002g0192 a0004c0004t0003g0261 a0001c0001t0002g0192 a0004c0004t0003g0261	2	328	0.0061	40	c.-59 others(49): Show c.-592_-591insAAAAGAAAAGAAAAGAAAAAAAAAAAAAAAAAAAAA AAAA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding		153		chr16	TogoVar
OR1F1_chr16_3183204_3211556	3188052	A A	AAAGAAAA others(33): Show AAAGAAAAGAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02895.hp1 HG03669.hp1 others(2): Show HG02698.hp2 HG02895.hp1 HG03669.hp1 NA18951.hp2 NA18977.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0003 a0002c0002t0027 a0004c0004t0003 a0001c0001t0003 a0002c0002t0027 a0004c0004t0003	a0001c0001t0003g0023 a0001c0001t0003g0194 a0001c0001t0003g0195 others(2): Show a0001c0001t0003g0023 a0001c0001t0003g0194 a0001c0001t0003g0195 a0002c0002t0027g0255 a0004c0004t0003g0259	5	328	0.0152	40	c.-59 others(49): Show c.-590_-589insAAGAAAAGAAAAGAAAAAAAAAAAAAAAAAAAAAAA AAAG	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding		151		chr16	TogoVar
OR1F1_chr16_3183204_3211556	3188053	A A	AAGAAAAG others(33): Show AAGAAAAGAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 NA19064.hp2 HG03453.hp2 NA19064.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0003 a0001c0001t0002 a0005c0005t0003	a0001c0001t0002g0221 a0005c0005t0003g0228 a0001c0001t0002g0221 a0005c0005t0003g0228	2	328	0.0061	40	c.-58 others(49): Show c.-589_-588insAGAAAAGAAAAGAAAAAAAAAAAAAAAAAAAAAAAA AAAG	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding		150		chr16	TogoVar
OR1F1_chr16_3183204_3211556	3188054	A A	AGAAAAGA others(33): Show AGAAAAGAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0272	1	328	0.0031	40	c.-58 others(49): Show c.-588_-587insGAAAAGAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA AAAG	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding		149		chr16	TogoVar
OR2A5_chr7_144043948_144063845	144046916	G G	GAAAATGC others(33): Show GAAAATGCAGACTCTACAGATAGCTTGGGCTCACAGTATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	420	0.0024	40	c.-22 others(51): Show c.-2269_-2268insAAAATGCAGACTCTACAGATAGCTTGGGCTCACA GTATCC	OR2A5	ENSG00000221836.4	transcript	ENST00000641693.1	protein_coding		2031		chr7	TogoVar
OR2B2_chr6_27906185_27917396	27915297	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02559.hp1 HG02723.hp2 others(3): Show HG01243.hp1 HG02559.hp1 HG02723.hp2 HG02886.hp1 HG03942.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	398	0.0151	40	c.-29 others(51): Show c.-2979_-2978insTATATATATATATATATATATATATATATATATA TATATA	OR2B2	ENSG00000168131.4	transcript	ENST00000303324.4	protein_coding		2902		chr6	TogoVar
OR2B2_chr6_27906185_27917396	27915299	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG02273.hp2 HG02738.hp1 others(3): Show HG01074.hp1 HG02273.hp2 HG02738.hp1 HG03654.hp2 NA18968.hp2 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	6	398	0.0151	40	c.-29 others(51): Show c.-2981_-2980insTATATATATATATATATATATATATATATATATA TATATA	OR2B2	ENSG00000168131.4	transcript	ENST00000303324.4	protein_coding		2904		chr6	TogoVar
OR2T1_chr1_248398048_248413020	248404546	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03669.hp1 HG00544.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0041 a0001c0001t0012g0041 a0001c0001t0006g0041 a0001c0001t0012g0041	2	266	0.0075	40	c.-34 others(57): Show c.-34+1315_-34+1316insTATATATATATATATATATATATATATA TATATATATATA	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2Z1_chr19_8716634_8737160	8720333	C C	CCATTTAT others(33): Show CCATTTATCCATCCATCCATCCATCCATCCATCCATCCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01346.hp2 HG00408.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0112 a0001c0002t0001g0004 a0001c0001t0004g0112 a0001c0002t0001g0004	2	438	0.0046	40	c.-19 others(51): Show c.-1924_-1923insCATTTATCCATCCATCCATCCATCCATCCATCCA TCCATT	OR2Z1	ENSG00000181733.4	transcript	ENST00000641125.1	protein_coding		1300		chr19	TogoVar
OR2Z1_chr19_8716634_8737160	8720338	T T	TATCCATC others(33): Show TATCCATCCATCCATCCATCCATCCATCCATTCATTTATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18961.hp2 NA18947.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0096 a0001c0002t0001g0002 a0001c0002t0001g0096	2	438	0.0046	40	c.-19 others(51): Show c.-1919_-1918insATCCATCCATCCATCCATCCATCCATCCATTCAT TTATCC	OR2Z1	ENSG00000181733.4	transcript	ENST00000641125.1	protein_coding		1295		chr19	TogoVar
OR2Z1_chr19_8716634_8737160	8720342	C C	CATCCATC others(33): Show CATCCATCCATCCATCCATCCATCCATCCATCCATTCATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	438	0.0023	40	c.-19 others(51): Show c.-1915_-1914insATCCATCCATCCATCCATCCATCCATCCATCCAT TCATTT	OR2Z1	ENSG00000181733.4	transcript	ENST00000641125.1	protein_coding		1291		chr19	TogoVar
OR3A2_chr17_3271177_3391308	3367602	T T	TATATATT others(33): Show TATATATTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0223 a0002c0002t0005g0223	1	318	0.0031	40	c.-37 others(61): Show c.-377+18522_-377+18523insTATATATATATATATATATATATA TATATATATAATATAT	OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	1/4			chr17	TogoVar
OR4D10_chr11_59468315_59484361	59468670	T T	TGATAGAT others(33): Show TGATAGATAGATGATAGATAGATAGATGATAGATATAGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01943.hp1 HG03239.hp2 others(8): Show HG00438.hp1 HG01943.hp1 HG03239.hp2 NA18747.hp2 NA18970.hp1 NA18971.hp2 NA18985.hp1 NA18985.hp2 NA19070.hp2 NA19076.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0014 others(1): Show a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0030	11	430	0.0256	40	c.-51 others(51): Show c.-5195_-5194insGATAGATAGATGATAGATAGATAGATGATAGATA TAGATA	OR4D10	ENSG00000254466.2	transcript	ENST00000530162.2	protein_coding		4644		chr11	TogoVar
OR4D10_chr11_59468315_59484361	59483771	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01070.hp1 HG01071.hp2 others(15): Show HG00544.hp1 HG01070.hp1 HG01071.hp2 HG01952.hp2 HG02135.hp2 HG02886.hp2 HG04184.hp2 NA18962.hp1 NA18962.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp2 NA19000.hp1 NA19006.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0002g0009 a0001c0001t0002g0016 a0002c0002t0002g0002	18	430	0.0419	40	c.54 others(51): Show c.5406_*5407insTATATATATATATATATATATATATATATATATA TATATA	OR4D10	ENSG00000254466.2	transcript	ENST00000530162.2	protein_coding		4411		chr11	TogoVar
OR4D10_chr11_59468315_59484361	59483788	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	430	0.0023	40	c.54 others(51): Show c.5423_*5424insATATATATATATATATATATATATATATATATAT ATATAA	OR4D10	ENSG00000254466.2	transcript	ENST00000530162.2	protein_coding		4428		chr11	TogoVar
OR4M2B_chr15_21632909_21643992	21642193	A A	ATATATAT others(33): Show ATATATATGTATATATATATACACACATATATATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0000 a0008c0009t0001g0000	1	215	0.0047	40	c.32 others(51): Show c.3245_*3246insTATATATGTATATATATATACACACATATATATA TGTATG	OR4M2B	ENSG00000182974.3	transcript	ENST00000332663.3	protein_coding		3202		chr15	TogoVar
OR5D18_chr11_55814630_55825571	55823246	T T	TATATATA others(33): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	434	0.0023	40	c.26 others(51): Show c.2675_*2676insATATATATATATATATAGAGAGAGAGAGAGAGAG AGAGAG	OR5D18	ENSG00000186119.9	transcript	ENST00000333976.7	protein_coding		2676		chr11	TogoVar
OR5L2_chr11_55822219_55833154	55823246	T T	TATATATA others(33): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	448	0.0022	40	c.-39 others(51): Show c.-3973_-3972insATATATATATATATATAGAGAGAGAGAGAGAGAG AGAGAG	OR5L2	ENSG00000205030.1	transcript	ENST00000378397.1	protein_coding		3972		chr11	TogoVar
OR6J1_chr14_22625929_22649352	22636291	T T	TCCCCTCT others(33): Show TCCCCTCTCCCTCTCCTCTCCCTCTCCTCTCCCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	362	0.0028	40	c.-27 others(57): Show c.-27-1454_-27-1453insGAGGGAGAGGGAGAGGAGAGGGAGAGGA GAGGGAGAGGGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22636401	C C	CCTCCTCT others(33): Show CCTCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	362	0.0028	40	c.-27 others(57): Show c.-27-1564_-27-1563insAGGGAGAGGGAGAGGGAGAGGGAGAGGA GAGGGAGAGGAG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar

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Search Results (Total: 6641 hits)