JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0087 a0001c0001t0091g0087	1	368	0.0027	30	c.21 others(41): Show c.2119_*2120insAAAGAAAGAAGAAAGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535621	T T	TTTCTTTC others(23): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03669.hp1 HG03704.hp1 HG03669.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0058 a0001c0001t0051 a0001c0001t0058	a0001c0001t0051g0050 a0001c0001t0058g0129 a0001c0001t0051g0050 a0001c0001t0058g0129	2	368	0.0054	30	c.20 others(41): Show c.2061_*2062insGAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2397		chr16	TogoVar
NUPR2_chr7_56109681_56121417	56115625	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02135.hp1 NA19084.hp1 HG01175.hp1 HG02135.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	3	448	0.0067	30	c.6+ others(43): Show c.6+389_*6+390insTATATATATATATATATATATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUTM2E_chr10_79821739_79855878	79826383	G G	GGGCGGCG others(23): Show GGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02886.hp1 HG02572.hp1 HG02886.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0046 a0003c0007t0002g0046	2	412	0.0049	30	c.-37 others(41): Show c.-3702_-3701insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	NUTM2E	ENSG00000228570.8	transcript	ENST00000429984.5	protein_coding		355		chr10	TogoVar
NUTM2F_chr9_94313198_94333644	94313489	T T	TATAAAAT others(23): Show TATAAAATATATATTATATATTAAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0008 a0004c0007t0001g0008	1	322	0.0031	30	c.49 others(41): Show c.4975_*4976insTATATATTTAATATATAATATATATTTTAT	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4708		chr9	TogoVar
NUTM2F_chr9_94313198_94333644	94313489	T T	TATAAATA others(23): Show TATAAATATATATTATTTATTATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	322	0.0031	30	c.49 others(41): Show c.4975_*4976insTATATATTATAATAAATAATATATATTTAT	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4708		chr9	TogoVar
NUTM2F_chr9_94313198_94333644	94313492	A A	AAAATATA others(23): Show AAAATATATATTATATATTATAATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	322	0.0031	30	c.49 others(41): Show c.4972_*4973insATTATATATTATAATATATAATATATATTT	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4705		chr9	TogoVar
NWD1_chr19_16714847_16822953	16737964	C C	CGAAAAGA others(23): Show CGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0047 a0008c0010t0047	a0008c0010t0047g0005 a0008c0010t0047g0005	1	300	0.0033	30	c.198 others(47): Show c.198+1234_198+1263dupAGAAAAGAAAAGAAAAGAAAAGAAAAGA AA	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16777910	G G	GGGGAAGG others(23): Show GGGGAAGGAAAGGAAAGGGAGGGAAGGGAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02647.hp1 HG02809.hp2 others(5): Show HG00673.hp2 HG02647.hp1 HG02809.hp2 HG03130.hp2 HG03195.hp2 NA18906.hp2 NA20129.hp1 NA20129.hp2	a0001 a0008 a0033 a0001 a0008 a0033	a0001c0002 a0008c0010 a0033c0052 a0001c0002 a0008c0010 a0033c0052	a0001c0002t0001 a0008c0010t0002 a0008c0010t0010 others(2): Show a0001c0002t0001 a0008c0010t0002 a0008c0010t0010 a0008c0010t0047 a0033c0052t0001	a0001c0002t0001g0207 a0008c0010t0002g0114 a0008c0010t0010g0131 others(5): Show a0001c0002t0001g0207 a0008c0010t0002g0114 a0008c0010t0010g0131 a0008c0010t0010g0276 a0008c0010t0010g0278 a0008c0010t0010g0284 a0008c0010t0047g0005 a0033c0052t0001g0254	8	300	0.0267	30	c.260 others(49): Show c.2609-1392_2609-1363dupGGAAAGGGAGGGAAGGGAAAGGGAAG GAAA	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NXF2B_chrX_102355395_102445008	102435129	A A	AAAAACAA others(23): Show AAAAACAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	54	0.0185	30	c.-54 others(47): Show c.-54+3423_-54+3424insGTTTTGTTTTGTTTTGTTTTGTTTTGTT TT	NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	2/22			chrX	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	408	0.0025	30	c.25 others(41): Show c.2531_*2532insAAAATATATATATATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	2	408	0.0049	30	c.25 others(41): Show c.2531_*2532insAAAAAAAAAATATATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 NA19043.hp2 HG04204.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0002g0092 a0001c0001t0001g0046 a0001c0001t0002g0092	2	408	0.0049	30	c.25 others(41): Show c.2531_*2532insAAAAAAAAAAAAAATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17463783	A A	AAGAAGGA others(23): Show AAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	30	c.-29 others(41): Show c.-2915_-2914insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2858		chr19	TogoVar
NXN_chr17_794310_984776	839797	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	242	0.0041	30	c.361 others(49): Show c.361-13720_361-13719insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	894110	T T	TCCCTGGA others(23): Show TCCCTGGAAGCCAGAGGAAGCATCTCAAACG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	242	0.0041	30	c.361 others(49): Show c.361-68062_361-68033dupCGTTTGAGATGCTTCCTCTGGCTTCC AGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(23): Show TATATATACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	242	0.0041	30	c.-39 others(41): Show c.-3934_-3933insGTGTGTGTGTGTGTGTGTGTGTGTATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0242 a0001c0002t0032g0242	1	242	0.0041	30	c.-39 others(41): Show c.-3934_-3933insGTGTGTGTATATATATATATATATATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXPE2_chr11_114673527_114712069	114708636	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0064 a0001c0003t0001g0064	1	428	0.0023	30	c.17 others(41): Show c.1706_*1707insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	NXPE2	ENSG00000204361.10	transcript	ENST00000389586.6	protein_coding		1568		chr11	TogoVar
NYAP2_chr2_225394710_225708654	225512831	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp2 NA18522.hp1 others(1): Show HG02922.hp1 HG03195.hp2 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0044 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0044 a0001c0006t0020	a0001c0001t0002g0004 a0001c0001t0004g0017 a0001c0001t0044g0174 others(1): Show a0001c0001t0002g0004 a0001c0001t0004g0017 a0001c0001t0044g0174 a0001c0006t0020g0018	4	192	0.0208	30	c.222 others(45): Show c.222-539_222-538insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225589516	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp2 HG03098.hp2 others(3): Show HG02109.hp2 HG02886.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0006 a0003c0016 a0001c0002 a0001c0006 a0003c0016	a0001c0002t0008 a0001c0002t0033 a0001c0006t0020 others(2): Show a0001c0002t0008 a0001c0002t0033 a0001c0006t0020 a0001c0006t0040 a0003c0016t0030	a0001c0002t0008g0127 a0001c0002t0008g0183 a0001c0002t0033g0184 others(3): Show a0001c0002t0008g0127 a0001c0002t0008g0183 a0001c0002t0033g0184 a0001c0006t0020g0045 a0001c0006t0040g0073 a0003c0016t0030g0003	6	192	0.0313	30	c.161 others(49): Show c.1618+6507_1618+6508insATATATATATATATATATATATATAT ATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225597512	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03130.hp1 HG03486.hp2 others(2): Show HG02056.hp1 HG03130.hp1 HG03486.hp2 NA19068.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0001c0018	a0001c0001t0004 a0001c0003t0003 a0001c0007t0005 others(1): Show a0001c0001t0004 a0001c0003t0003 a0001c0007t0005 a0001c0018t0001	a0001c0001t0004g0043 a0001c0003t0003g0071 a0001c0007t0005g0136 others(2): Show a0001c0001t0004g0043 a0001c0003t0003g0071 a0001c0007t0005g0136 a0001c0007t0005g0164 a0001c0018t0001g0125	5	192	0.0260	30	c.161 others(51): Show c.1618+14495_1618+14496insATATATATATATATATATATATAT ATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225619124	G G	GAACTTTA others(23): Show GAACTTTAAATGCATTATCTCATTTAATCTT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0007 a0002c0008t0007	a0002c0008t0007g0006 a0002c0008t0007g0006	1	192	0.0052	30	c.161 others(49): Show c.1619-7792_1619-7763dupAACTTTAAATGCATTATCTCATTTAA TCTT	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(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0171 a0005c0007t0002g0171	1	450	0.0022	30	c.199 others(47): Show c.199-1646_199-1617dupAAATAAAATAAAATAAAATAAAATAAAA TA	NYNRIN	ENSG00000205978.6	transcript	ENST00000382554.4	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
OBP2A_chr9_135541126_135554969	135544761	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	455	0.0022	30	c.-14 others(41): Show c.-1420_-1419insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding		1364		chr9	TogoVar
OBSCN_chr1_228203044_228383876	228333510	C C	CTGTCTCC others(23): Show CTGTCTCCCTGATCCAGCAACCAGGCCCTGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0111 a0111	a0111c0104 a0111c0104	a0111c0104t0001 a0111c0104t0001	a0111c0104t0001g0204 a0111c0104t0001g0204	1	320	0.0031	30	c.187 others(47): Show c.18728-65_18728-64insTGATCCAGCAACCAGGCCCTGATGTCTC CC	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	69/115		INFO_REALIGN_3_PRIME	chr1	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(23): Show CTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0001 a0003c0020t0001	a0003c0020t0001g0083 a0003c0020t0001g0083	1	110	0.0091	30	c.243 others(51): Show c.2432+20356_2432+20357insTATATATATATATATATATATATA GAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0040 a0004c0040	a0004c0040t0001 a0004c0040t0001	a0004c0040t0001g0081 a0004c0040t0001g0081	1	110	0.0091	30	c.243 others(51): Show c.2432+20356_2432+20357insTATATATATATATATATATAGAGA GAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0007 a0003c0013t0001g0007	1	110	0.0091	30	c.243 others(51): Show c.2432+20356_2432+20357insTATATATATATATATAGAGAGAGA GAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02055.hp2 others(4): Show HG01069.hp1 HG01071.hp1 HG02055.hp2 HG02647.hp1 HG02809.hp1 HG04115.hp1 NA18950.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0015	a0001c0001 a0001c0003 a0002c0016 others(2): Show a0001c0001 a0001c0003 a0002c0016 a0007c0042 a0015c0037	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0002c0016t0001 a0007c0042t0001 a0015c0037t0001	a0001c0001t0001g0005 a0001c0001t0005g0108 a0001c0003t0001g0087 others(4): Show a0001c0001t0001g0005 a0001c0001t0005g0108 a0001c0003t0001g0087 a0002c0016t0001g0047 a0002c0016t0001g0048 a0007c0042t0001g0027 a0015c0037t0001g0080	7	110	0.0636	30	c.243 others(51): Show c.2432+20356_2432+20357insTATATATATATAGAGAGAGAGAGA GAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0014 a0014	a0014c0034 a0014c0034	a0014c0034t0001 a0014c0034t0001	a0014c0034t0001g0078 a0014c0034t0001g0078	1	110	0.0091	30	c.243 others(51): Show c.2432+20356_2432+20357insTATATATATAGAGAGAGAGAGAGA GAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0038	1	110	0.0091	30	c.243 others(51): Show c.2432+20356_2432+20357insTATAGAGAGAGAGAGAGAGAGAGA GAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03540.hp1 NA19043.hp2 HG02809.hp2 HG03540.hp1 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	3	444	0.0068	30	c.-78 others(39): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTATATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03471.hp1 HG03195.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	2	444	0.0045	30	c.-78 others(39): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCSTAMP_chr20_46535946_46555654	46549806	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00639.hp2 others(31): Show HG00099.hp1 HG00140.hp1 HG00639.hp2 HG00738.hp2 HG01070.hp2 HG01099.hp2 HG01346.hp1 HG01515.hp1 HG02004.hp1 HG02015.hp1 HG02080.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG03098.hp1 HG03540.hp2 HG03688.hp1 HG04199.hp2 NA18522.hp1 NA18988.hp1 NA19010.hp2 NA19043.hp2 NA19058.hp1 NA19074.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(19): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0007g0070 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0003g0100 a0001c0002t0003g0101 a0001c0004t0001g0095 a0001c0004t0001g0096	34	442	0.0769	30	c.44+ others(43): Show c.44+710_44+711insCACACACACACACACACACACACACACACA	OCSTAMP	ENSG00000149635.3	transcript	ENST00000279028.3	protein_coding	1/2			chr20	TogoVar
ODAD2_chr10_27807168_28004079	27924000	A A	AAGAAAGA others(23): Show AAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0267 a0010c0016t0001g0267	1	304	0.0033	30	c.249 others(51): Show c.2495+11009_2495+11010insCTCTCTCTCTCTCTCTCTCTCTCT CTTTCT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	16/19			chr10	TogoVar
ODAD3_chr19_11415605_11440121	11425130	T T	TATATGTG others(23): Show TATATGTGTATATGTACATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	398	0.0025	30	c.963 others(46): Show c.963+984_963+1013dupGTATATATACATATGTACATATACACATA T	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODC1_chr2_10434968_10453327	10448557	G G	GCCCCGCC others(23): Show GCCCCGCCCTCCCCGCCCTGCGGCCGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02896.hp1 others(3): Show HG01167.hp2 HG01169.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	6	438	0.0137	30	c.-56 others(39): Show c.-565_-564insAGAGGCGGCCGCAGGGCGGGGAGGGCGGGG	ODC1	ENSG00000115758.14	transcript	ENST00000234111.9	protein_coding		231		chr2	TogoVar
ODF2L_chr1_86341837_86401323	86400628	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	406	0.0025	30	c.-46 others(41): Show c.-4656_-4655insATATATATATATATATATATATATATATAT	ODF2L	ENSG00000122417.16	transcript	ENST00000460698.7	protein_coding		4306		chr1	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	346	0.0029	30	c.669 others(45): Show c.669+666_669+667insAATATATATATATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	346	0.0029	30	c.669 others(45): Show c.669+694_669+695insTATATATATATATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128497446	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0161 a0001c0001t0007g0161	1	346	0.0029	30	c.226 others(47): Show c.2262-966_2262-965insAAAAAAAATATATATATATATATATATA TA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
OGDH_chr7_44601627_44714066	44616640	T T	TGTATATA others(23): Show TGTATATATACACATATATATACGTATATAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18945.hp1 NA18959.hp2 others(2): Show HG03195.hp2 NA18945.hp1 NA18959.hp2 NA18999.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0009t0001	a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0006g0065 others(2): Show a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0006g0065 a0001c0002t0001g0063 a0001c0009t0001g0193	5	306	0.0163	30	c.-27 others(47): Show c.-27-7660_-27-7631dupATATACGTATATACGTATATATACACAT AT	OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
OGDH_chr7_44601627_44714066	44616787	A A	ATATATAT others(23): Show ATATATATGTGTATATATATGCATATATACG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	306	0.0033	30	c.-27 others(47): Show c.-27-7511_-27-7482dupTGCATATATACGTATATATGTGTATATA TA	OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
OGFOD1_chr16_56446554_56484104	56480352	C C	CACAAAAA others(23): Show CACAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0252 a0001c0001t0029g0252	1	430	0.0023	30	c.41 others(41): Show c.4147_*4148insACAAAAAAAAAAAAAAAAAAAAAAAAAAAA	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1249		chr16	TogoVar
OGFOD3_chr17_82384210_82423586	82401803	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0254 a0001c0003t0002g0254	1	348	0.0029	30	c.699 others(47): Show c.699+2133_699+2134insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding	7/8			chr17	TogoVar
OLFM1_chr9_135082668_135126180	135091691	A A	ACACAGTC others(23): Show ACACAGTCACACACACAGTCTCACACATAGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0036 a0001c0004t0018g0036	1	360	0.0028	30	c.300 others(47): Show c.300+1351_300+1352insGTCACACACACAGTCTCACACATAGTCA CA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
OLFM1_chr9_135082668_135126180	135124656	G G	GAAAGAAA others(23): Show GAAAGAAAGAGAGAGAGAGAGAGAGAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0273 a0001c0002t0003g0273	1	360	0.0028	30	c.44 others(41): Show c.4478_*4479insAAAGAAAGAGAGAGAGAGAGAGAGAGAGAA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3477		chr9	TogoVar
OLFM1_chr9_135082668_135126180	135124684	G G	GAAGAAAG others(23): Show GAAGAAAGAAGAAAGAAAGAAAGAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03139.hp2 HG02630.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0294 a0001c0001t0004g0296	2	360	0.0056	30	c.45 others(41): Show c.4506_*4507insAAGAAAGAAGAAAGAAAGAAAGAAGAAAGA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3505		chr9	TogoVar
OLFM3_chr1_101797560_102001926	101998393	G G	GTTCATTA others(23): Show GTTCATTATTTTTTATATCATATTTTGAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0305 a0001c0001t0004g0305	1	306	0.0033	30	c.-15 others(41): Show c.-1578_-1577insAATTCAAAATATGATATAAAAAATAATGAA	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding		1468		chr1	TogoVar

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