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	CTTTCTTT others(33): Show CTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTTCCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp2 NA19004.hp2 HG02735.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0029 a0001c0001t0031g0029	2	368	0.0054	40	c.21 others(51): Show c.2119_*2120insAAAGAAAGGAAGGAAAGAAAGAAAGAAAGAAGGA AAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(33): Show CTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0095 a0001c0001t0106g0095	1	368	0.0027	40	c.21 others(51): Show c.2119_*2120insAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAGGA AAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(33): Show CTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01952.hp1 HG01952.hp2 HG02135.hp1 others(3): Show HG01952.hp1 HG01952.hp2 HG02135.hp1 HG03486.hp2 NA18979.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0057 a0001c0001t0007 a0001c0001t0057	a0001c0001t0007g0007 a0001c0001t0057g0136 a0001c0001t0007g0007 a0001c0001t0057g0136	6	368	0.0163	40	c.21 others(51): Show c.2119_*2120insAAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGA AAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CTTTCTTT others(33): Show CTTTCTTTCTTTCTTTCCTTCCTTCTTTCTTTCTTTCTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0062 a0001c0001t0056g0062	1	368	0.0027	40	c.21 others(51): Show c.2111_*2112insAAAAGAAAGAAAGAAAGAAGGAAGGAAAGAAAGA AAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR2_chr7_56109681_56121417	56115412	T T	TATACATA others(33): Show TATACATATGTATATATATACATATATATGTATATATATAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18984.hp1 NA18986.hp1 NA18970.hp1 NA18984.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	3	448	0.0067	40	c.7- others(53): Show c.7-516_*7-515insGTATATATATACATATATATGTATATATATAC ATATGTAT	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115415	A A	ACATATGT others(33): Show ACATATGTATATATATACATATATATGTATATATATACATG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02280.hp1 HG03579.hp1 HG01346.hp1 HG02280.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0007g0079 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0007g0079	3	448	0.0067	40	c.7- others(53): Show c.7-519_*7-518insCATGTATATATATACATATATATGTATATATA TACATATG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115417	A A	ACACATGT others(33): Show ACACATGTATATATATACATATATATGTATATATATACATG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	448	0.0045	40	c.7- others(53): Show c.7-521_*7-520insCATGTATATATATACATATATATGTATATATA TACATGTG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115417	A A	ACATATGT others(33): Show ACATATGTATATATATACATATATATGTATATATATACATG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03041.hp2 HG03225.hp2 HG02040.hp2 HG03041.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	3	448	0.0067	40	c.7- others(53): Show c.7-521_*7-520insCATGTATATATATACATATATATGTATATATA TACATATG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115417	A A	ACATATGT others(33): Show ACATATGTATATATATATATATATACGTATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02258.hp1 HG02451.hp2 others(9): Show HG01978.hp1 HG02258.hp1 HG02451.hp2 HG02717.hp1 HG02738.hp2 HG02965.hp1 HG03195.hp1 HG03516.hp2 NA18522.hp2 NA18980.hp2 NA18986.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 others(6): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0004g0064 a0001c0001t0004g0065	12	448	0.0268	40	c.7- others(53): Show c.7-521_*7-520insCACACATATATATACGTATATATATATATATA TACATATG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115421	A A	ATGTATAT others(33): Show ATGTATATATATACATATATATGTATATATATACATGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	448	0.0022	40	c.7- others(53): Show c.7-525_*7-524insCACACATGTATATATATACATATATATGTATA TATATACA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115625	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02056.hp2 HG02886.hp1 others(5): Show HG01891.hp2 HG02056.hp2 HG02886.hp1 HG02965.hp1 NA18522.hp1 NA18980.hp2 NA19004.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0056 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0119	8	448	0.0179	40	c.6+ others(53): Show c.6+389_*6+390insTATATATATATATATATATATATATATATATA TATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUTF2_chr16_67841933_67877567	67872928	C C	CGTGGGAC others(33): Show CGTGGGACTTTCCTGACCTCGCGGACACAGGGGCGGGGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0031 a0001c0001t0017g0031	1	248	0.0040	40	c.20 others(51): Show c.2015_*2016insGTGGGACTTTCCTGACCTCGCGGACACAGGGGCG GGGCCG	NUTF2	ENSG00000102898.13	transcript	ENST00000219169.9	protein_coding		362		chr16	TogoVar
NWD1_chr19_16714847_16822953	16736193	T T	TTTCCTTC others(33): Show TTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0017 a0043 a0017 a0043	a0017c0021 a0043c0064 a0017c0021 a0043c0064	a0017c0021t0002 a0043c0064t0002 a0017c0021t0002 a0043c0064t0002	a0017c0021t0002g0051 a0043c0064t0002g0300 a0017c0021t0002g0051 a0043c0064t0002g0300	2	300	0.0067	40	c.82- others(53): Show c.82-434_82-433insTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTC	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16736193	T T	TTTCCTTC others(33): Show TTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0147 a0002c0001t0001g0147	1	300	0.0033	40	c.82- others(53): Show c.82-434_82-433insTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTC	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16736209	T T	TTTCCTTC others(33): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02886.hp2 HG04184.hp2 others(2): Show HG02735.hp1 HG02886.hp2 HG04184.hp2 HG04228.hp1 NA19080.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0009 a0005c0016 a0003c0003 a0004c0009 a0005c0016	a0003c0003t0002 a0004c0009t0008 a0005c0016t0002 a0003c0003t0002 a0004c0009t0008 a0005c0016t0002	a0003c0003t0002g0065 a0004c0009t0008g0286 a0005c0016t0002g0056 others(2): Show a0003c0003t0002g0065 a0004c0009t0008g0286 a0005c0016t0002g0056 a0005c0016t0002g0058 a0005c0016t0002g0081	5	300	0.0167	40	c.82- others(53): Show c.82-408_82-407insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCT	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NXN_chr17_794310_984776	949645	T T	TCCTCCTC others(33): Show TCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCCTGCCTC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	242	0.0041	40	c.360 others(59): Show c.360+29673_360+29674insGAGGCAGGGGGGGAGAGGAGGAGGCC GCGGGGAGAGGAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0223 a0001c0003t0001g0223	1	242	0.0041	40	c.-39 others(51): Show c.-3934_-3933insGTGTGTGTGTGTATATATATATATATATATATAT ATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA19088.hp1 NA18952.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0217 a0001c0001t0002g0204 a0001c0001t0001g0217 a0001c0001t0002g0204	2	242	0.0083	40	c.-39 others(51): Show c.-3934_-3933insGTGTGTGTGTATATATATATATATATATATATAT ATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02155.hp2 HG03942.hp2 others(1): Show HG02135.hp2 HG02155.hp2 HG03942.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0131 a0001c0001t0001g0216 a0001c0001t0002g0133 others(1): Show a0001c0001t0001g0131 a0001c0001t0001g0216 a0001c0001t0002g0133 a0001c0001t0003g0210	4	242	0.0165	40	c.-39 others(51): Show c.-3934_-3933insGTGTGTGTATATATATATATATATATATATATAT ATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NYAP2_chr2_225394710_225708654	225597512	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01109.hp2 others(8): Show HG00099.hp1 HG00735.hp2 HG01109.hp2 HG01978.hp1 HG02056.hp2 HG02647.hp1 HG02717.hp2 HG03209.hp1 NA18949.hp1 NA18972.hp1 NA19009.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0005c0012	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0036 a0001c0003t0003 a0001c0004t0002 a0001c0004t0025 a0005c0012t0001	a0001c0001t0001g0026 a0001c0001t0001g0100 a0001c0002t0002g0130 others(8): Show a0001c0001t0001g0026 a0001c0001t0001g0100 a0001c0002t0002g0130 a0001c0002t0008g0127 a0001c0002t0036g0113 a0001c0003t0003g0077 a0001c0004t0002g0140 a0001c0004t0002g0148 a0001c0004t0002g0163 a0001c0004t0025g0141 a0005c0012t0001g0031	11	192	0.0573	40	c.161 others(61): Show c.1618+14495_1618+14496insATATATATATATATATATATATAT ATATATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYNRIN_chr14_24394003_24424283	24406201	A A	AAAAATAA others(33): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0213 a0002c0002t0014g0213	1	450	0.0022	40	c.199 others(57): Show c.199-1656_199-1617dupAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATA	NYNRIN	ENSG00000205978.6	transcript	ENST00000382554.4	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
OAS2_chr12_112973519_113016723	113001449	C C	CATATATA others(33): Show CATATATACACATATATACATATATACACATATATGCACAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02723.hp2 HG02976.hp2 others(2): Show HG02280.hp1 HG02723.hp2 HG02976.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0023 a0001c0001t0001 a0001c0002t0001 a0001c0002t0023	a0001c0001t0001g0069 a0001c0002t0001g0020 a0001c0002t0023g0082 a0001c0001t0001g0069 a0001c0002t0001g0020 a0001c0002t0023g0082	5	380	0.0132	40	c.100 others(59): Show c.1009-1449_1009-1448insGCACATATATATACACATATATACAT ATATACACATATAT	OAS2	ENSG00000111335.14	transcript	ENST00000392583.7	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
OBI1_chr13_78609289_78664155	78659312	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	296	0.0034	40	c.-19 others(49): Show c.-193_-192insCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTTTTT TTTT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		158		chr13	TogoVar
OC90_chr8_132019216_132064382	132028563	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0127 a0002c0003t0001g0127	1	408	0.0025	40	c.113 others(57): Show c.1138+509_1138+510insCCTTCCTTCCTTCCTTCCTTTCTTTCTT TCTTTCTTTCTT	OC90	ENSG00000253117.5	transcript	ENST00000254627.4	protein_coding	13/13			chr8	TogoVar
OCA2_chr15_27749875_28104315	27770812	T T	TCCTCCCT others(33): Show TCCTCCCTTCCATTCTTCCTTCCTCCCTCTTTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0044 a0002c0015t0001g0044	1	110	0.0091	40	c.243 others(61): Show c.2433-15341_2433-15340insGAGGAAGGAAAAGAGGGAGGAAGG AAGAATGGAAGGGAGG	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01978.hp2 HG00673.hp1 HG01978.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0009 a0002c0003 a0005c0009	a0002c0003t0001 a0005c0009t0001 a0002c0003t0001 a0005c0009t0001	a0002c0003t0001g0002 a0005c0009t0001g0002 a0002c0003t0001g0002 a0005c0009t0001g0002	2	444	0.0045	40	c.-78 others(49): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA TATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	444	0.0023	40	c.-78 others(49): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA TATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	444	0.0023	40	c.-78 others(49): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA TATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	444	0.0023	40	c.-78 others(49): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA TATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	444	0.0023	40	c.-78 others(49): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCM2_chr7_97979687_97995196	97986180	T T	TGGGGGGG others(33): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	450	0.0022	40	c.304 others(55): Show c.304+866_304+867insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCC	OCM2	ENSG00000135175.6	transcript	ENST00000257627.5	protein_coding	3/3			chr7	TogoVar
ODAD3_chr19_11415605_11440121	11425386	T T	TACATATG others(33): Show TACATATGTGTATATGTATATATACATATATGTGTATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00642.hp1 others(16): Show HG00099.hp1 HG00140.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01099.hp2 HG01255.hp1 HG01255.hp2 HG01934.hp1 HG01978.hp1 HG02300.hp2 HG02897.hp2 HG03239.hp2 HG03688.hp1 HG03710.hp1 HG04115.hp1 HG06807.hp1 NA18953.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0153 a0001c0001t0001g0154 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0246 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0315 a0001c0001t0001g0335 a0001c0001t0001g0336	19	398	0.0477	40	c.963 others(55): Show c.963+718_963+757dupGTATATACACATATATGTATATATACATAT ACACATATGT	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODF3L2_chr19_458361_479983	473835	G G	GCCAGGCA others(33): Show GCCAGGCAGAGATACACGGTCACAGATGGGGAGACTGAGGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0085 a0002c0003t0002g0085	1	324	0.0031	40	c.127 others(55): Show c.127+746_127+785dupGCCTCAGTCTCCCCATCTGTGACCGTGTAT CTCTGCCTGG	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	1/3			chr19	TogoVar
ODF3_chr11_191761_205258	191842	A A	ACCCCTAA others(33): Show ACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCCTAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	388	0.0026	40	c.-52 others(51): Show c.-5213_-5212insCCCCTAACCCCTAACCCTAACCCTAACCCTAACC CCTAAC	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		4918		chr11	TogoVar
ODF3_chr11_191761_205258	195975	T T	TGGGGGGG others(33): Show TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(19): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01081.hp2 HG01257.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02109.hp2 HG02273.hp1 HG02698.hp1 HG03098.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0023 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0023	22	388	0.0567	40	c.-10 others(51): Show c.-1080_-1079insGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAG GACATG	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		785		chr11	TogoVar
OGFOD3_chr17_82384210_82423586	82387861	A A	AGGGGACA others(33): Show AGGGGACAGAAATTGGACAGAGATGGACAGAGGGGACAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0222 a0001c0001t0036g0222	1	348	0.0029	40	c.45 others(51): Show c.4536_*4537insCTCTGTCCCCTCTGTCCATCTCTGTCCAATTTCT GTCCCC	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding		1348		chr17	TogoVar
OLFM1_chr9_135082668_135126180	135124473	G G	GAGGAAGG others(33): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0023 a0002c0009t0023	a0002c0009t0023g0278 a0002c0009t0023g0278	1	360	0.0028	40	c.42 others(51): Show c.4295_*4296insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3294		chr9	TogoVar
OLFM2_chr19_9848718_9941515	9900945	G G	GGGAAGGA others(33): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	342	0.0029	40	c.63+ others(57): Show c.63+35319_63+35358dupTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCC	OLFM2	ENSG00000105088.9	transcript	ENST00000264833.9	protein_coding	1/5			chr19	TogoVar
OMA1_chr1_58475719_58551726	58518279	A A	AGAAGGGA others(33): Show AGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0061 a0003c0004t0001g0061	1	384	0.0026	40	c.121 others(59): Show c.1215+8981_1215+8982insCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518287	A A	AGGGAGGG others(33): Show AGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0345 a0002c0003t0001g0345	1	384	0.0026	40	c.121 others(59): Show c.1215+8973_1215+8974insCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518294	A A	AGAAGGGA others(33): Show AGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0062 a0003c0004t0001g0062	1	384	0.0026	40	c.121 others(59): Show c.1215+8966_1215+8967insCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518299	A A	AGAAGGGA others(33): Show AGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02622.hp1 HG03239.hp2 HG00735.hp2 HG02622.hp1 HG03239.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0053 a0003c0004t0001g0055 a0003c0004t0001g0065 a0003c0004t0001g0053 a0003c0004t0001g0055 a0003c0004t0001g0065	3	384	0.0078	40	c.121 others(59): Show c.1215+8961_1215+8962insCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518304	A A	AGAAGGGA others(33): Show AGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03453.hp2 HG02886.hp2 HG03453.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0105 a0003c0004t0001g0107 a0003c0004t0001g0105 a0003c0004t0001g0107	2	384	0.0052	40	c.121 others(59): Show c.1215+8956_1215+8957insCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OPA1_chr3_193588208_193702811	193596306	T T	TTTTCCTT others(33): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	388	0.0026	40	c.32+ others(55): Show c.32+2930_32+2931insCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTT	OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr3	TogoVar
OPALIN_chr10_96338221_96364002	96361946	A A	ATACAATA others(33): Show ATACAATACAATACAATACAATACAATACAGTACAGTACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	402	0.0025	40	c.-30 others(51): Show c.-3051_-3050insCTGTACTGTACTGTATTGTATTGTATTGTATTGT ATTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2945		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361946	A A	ATACAATA others(33): Show ATACAATACAATACAATACAATACAGTACAGTACAGTACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02970.hp1 NA19240.hp1 HG02809.hp2 HG02970.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0120 a0001c0001t0003g0030 a0001c0001t0003g0112 a0001c0001t0001g0120 a0001c0001t0003g0030 a0001c0001t0003g0112	3	402	0.0075	40	c.-30 others(51): Show c.-3051_-3050insCTGTACTGTACTGTACTGTATTGTATTGTATTGT ATTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2945		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361976	G G	GTACAGTA others(33): Show GTACAGTACAGTACAGTACAATACAATACAATACAATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 NA18947.hp2 NA18990.hp1 HG01891.hp1 NA18947.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0161 a0001c0001t0001g0205 a0001c0001t0001g0001 a0001c0001t0001g0161 a0001c0001t0001g0205	3	402	0.0075	40	c.-30 others(51): Show c.-3081_-3080insTTGTATTGTATTGTATTGTATTGTACTGTACTGT ACTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2975		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361976	G G	GTACAGTA others(33): Show GTACAGTACAGTACAGTACAGTACAATACAATACAATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA18995.hp2 NA19072.hp1 others(1): Show HG02165.hp1 NA18995.hp2 NA19072.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0003 a0001c0001t0001g0050 a0001c0001t0001g0128 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0050 a0001c0001t0001g0128 a0001c0001t0006g0014	4	402	0.0100	40	c.-30 others(51): Show c.-3081_-3080insTTGTATTGTATTGTATTGTACTGTACTGTACTGT ACTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2975		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361976	G G	GTACAGTA others(33): Show GTACAGTACAGTACAGTACAGTACAGTACAATACAATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	402	0.0025	40	c.-30 others(51): Show c.-3081_-3080insTTGTATTGTATTGTACTGTACTGTACTGTACTGT ACTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2975		chr10	TogoVar
OPCML_chr11_132409981_133537501	133116805	C C	CATACATA others(33): Show CATACATATATATATATATATATATATATATATATATATAT	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.62-173796_62-173795insATATATATATATATATATATATATAT ATATATATATGTAT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar

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