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
OR2T1_chr1_248398048_248413020	248404546	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0158 a0001c0001t0006g0158	1	266	0.0038	34	c.-34 others(51): Show c.-34+1315_-34+1316insTATATATATATATATATATATATATATA TATATA	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T34_chr1_248568801_248579757	248569909	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02074.hp2 NA18949.hp2 others(3): Show HG02040.hp2 HG02074.hp2 NA18949.hp2 NA18981.hp1 NA18995.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	6	314	0.0191	34	c.38 others(45): Show c.3891_*3892insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	OR2T34	ENSG00000183310.3	transcript	ENST00000328782.3	protein_coding		3891		chr1	TogoVar
OR2V2_chr5_181142586_181164285	181156039	G G	GTTCTCTT others(27): Show GTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0074 a0001c0001t0064g0074	1	424	0.0024	34	c.15 others(43): Show c.153_*154insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding	2/2	154	INFO_REALIGN_3_PRIME	chr5	TogoVar
OR2W1_chr6_29039213_29050175	29048420	A A	ATCATAGG others(27): Show ATCATAGGAGCTTTATTATGTATATCTTTTTTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	443	0.0023	34	c.-32 others(45): Show c.-3246_-3245insATTAAAAAAGATATACATAATAAAGCTCCTATGA	OR2W1	ENSG00000204704.3	transcript	ENST00000377175.2	protein_coding		3246		chr6	TogoVar
OR4A5_chr11_54701832_54712902	54704720	T T	TTTTCTTT others(27): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01175.hp1 HG01243.hp1 others(13): Show HG01106.hp1 HG01175.hp1 HG01243.hp1 HG01884.hp1 HG01928.hp1 HG02145.hp1 HG02486.hp1 HG02630.hp1 HG03130.hp2 HG06807.hp1 NA18952.hp1 NA18971.hp2 NA19010.hp1 NA19010.hp2 NA19059.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0000 a0001c0014t0001g0000 a0001c0001t0001g0000 a0001c0014t0001g0000	16	466	0.0343	34	c.-21 others(45): Show c.-2165_-2164insTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	OR4A5	ENSG00000221840.4	transcript	ENST00000319760.8	protein_coding		2111		chr11	TogoVar
OR4C5_chr11_48360485_48371465	48371211	T T	TAAGTTTG others(27): Show TAAGTTTGGAATCTCATCTAATTCACACCTAGTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	394	0.0025	34	c.-47 others(45): Show c.-4747_-4746insGGACTAGGTGTGAATTAGATGAGATTCCAAACTT	OR4C5	ENSG00000176540.3	transcript	ENST00000319813.3	protein_coding		4747		chr11	TogoVar
OR4D10_chr11_59468315_59484361	59483771	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG01261.hp2 others(16): Show HG00609.hp2 HG00738.hp2 HG01261.hp2 HG01496.hp1 HG01978.hp1 HG02572.hp2 HG02698.hp1 HG02723.hp2 HG02895.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03688.hp2 HG03710.hp2 NA18941.hp2 NA18949.hp2 NA18972.hp1 NA19066.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 a0002c0002t0002 a0003c0003t0001 a0003c0003t0011	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0003g0031 a0001c0004t0003g0020 a0002c0002t0002g0002 a0003c0003t0001g0003 a0003c0003t0011g0028	19	430	0.0442	34	c.54 others(45): Show c.5406_*5407insTATATATATATATATATATATATATATATATATA	OR4D10	ENSG00000254466.2	transcript	ENST00000530162.2	protein_coding		4411		chr11	TogoVar
OR4F17_chr19_102104_118156	107942	T T	TAATATAA others(27): Show TAATATAATATATATAATATAATATAAATTATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0081 a0003c0005t0004g0081	1	227	0.0044	34	c.-55 others(49): Show c.-55+401_-55+402insAATATAATATAAATTATATAAATATAATAT ATAT	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OR4K2_chr14_19870142_19888932	19872713	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0002 a0001c0001t0047g0002	1	254	0.0039	34	c.-34 others(45): Show c.-3445_-3444insTTTATATATATATATATATATATATATATATATA	OR4K2	ENSG00000165762.3	transcript	ENST00000641885.1	protein_coding		2428		chr14	TogoVar
OR4M2B_chr15_21632909_21643992	21634742	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	1	215	0.0047	34	c.-32 others(45): Show c.-3265_-3264insATATATATATATATATATATATATATATATATAT	OR4M2B	ENSG00000182974.3	transcript	ENST00000332663.3	protein_coding		3166		chr15	TogoVar
OR4M2B_chr15_21632909_21643992	21642158	T T	TATACACA others(27): Show TATACACACATATATATATGTATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG03831.hp2 NA18947.hp2 others(2): Show HG02056.hp2 HG03831.hp2 NA18947.hp2 NA18962.hp1 NA18969.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0000 a0001c0005t0001g0000	5	215	0.0233	34	c.32 others(45): Show c.3210_*3211insATACACACATATATATATGTATATATATATATAC	OR4M2B	ENSG00000182974.3	transcript	ENST00000332663.3	protein_coding		3167		chr15	TogoVar
OR4M2B_chr15_21632909_21643992	21642193	A A	ATATATAT others(27): Show ATATATATGTATATATATATACACACATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	215	0.0047	34	c.32 others(45): Show c.3245_*3246insTATATATGTATATATATATACACACATATATATG	OR4M2B	ENSG00000182974.3	transcript	ENST00000332663.3	protein_coding		3202		chr15	TogoVar
OR52E2_chr11_5053650_5064627	5063097	T T	TTATATAT others(27): Show TTATATATACACACTAGTGTATATATACTAGTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	450	0.0022	34	c.-34 others(45): Show c.-3471_-3470insTAAACTAGTATATATACACTAGTGTGTATATATA	OR52E2	ENSG00000176787.2	transcript	ENST00000321522.2	protein_coding		3471		chr11	TogoVar
OR5AS1_chr11_56022654_56043191	56039648	T T	TATATATA others(27): Show TATATATATATATATATATATACACACACACATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG03688.hp2 HG02698.hp1 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0021 a0002c0002t0004 a0002c0002t0021	a0002c0002t0004g0003 a0002c0002t0021g0003 a0002c0002t0004g0003 a0002c0002t0021g0003	2	432	0.0046	34	c.82 others(45): Show c.8255_*8256insATATATATATATATATATATACACACACACATAC	OR5AS1	ENSG00000181785.3	transcript	ENST00000641320.1	protein_coding		1458		chr11	TogoVar
OR5AS1_chr11_56022654_56043191	56039648	T T	TATATATA others(27): Show TATATATATATATATATATATATACACACACATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18977.hp1 NA19011.hp1 others(1): Show NA18946.hp1 NA18977.hp1 NA19011.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0047 a0002c0002t0004 a0002c0002t0047	a0002c0002t0004g0003 a0002c0002t0047g0032 a0002c0002t0004g0003 a0002c0002t0047g0032	4	432	0.0093	34	c.82 others(45): Show c.8255_*8256insATATATATATATATATATATATACACACACATAC	OR5AS1	ENSG00000181785.3	transcript	ENST00000641320.1	protein_coding		1458		chr11	TogoVar
OR5D18_chr11_55814630_55825571	55823246	T T	TATATATA others(27): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	434	0.0023	34	c.26 others(45): Show c.2675_*2676insATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	OR5D18	ENSG00000186119.9	transcript	ENST00000333976.7	protein_coding		2676		chr11	TogoVar
OR5J2_chr11_56171618_56182556	56179028	A A	ATATATAT others(27): Show ATATATATATATAAAAGTATATATATATATAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG03098.hp2 others(3): Show HG02622.hp1 HG02647.hp2 HG03098.hp2 HG03579.hp1 HG06807.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	6	442	0.0136	34	c.14 others(45): Show c.1472_*1473insTATATATATATAAAAGTATATATATATATAAAAG	OR5J2	ENSG00000174957.1	transcript	ENST00000312298.1	protein_coding		1473		chr11	TogoVar
OR5L2_chr11_55822219_55833154	55823246	T T	TATATATA others(27): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	448	0.0022	34	c.-39 others(45): Show c.-3973_-3972insATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	OR5L2	ENSG00000205030.1	transcript	ENST00000378397.1	protein_coding		3972		chr11	TogoVar
OR5L2_chr11_55822219_55833154	55823246	T T	TATATATA others(27): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	448	0.0022	34	c.-39 others(45): Show c.-3973_-3972insATATATATATATAGAGAGAGAGAGAGAGAGAGAG	OR5L2	ENSG00000205030.1	transcript	ENST00000378397.1	protein_coding		3972		chr11	TogoVar
OR5V1_chr6_29348749_29373865	29364797	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG04115.hp1 NA19043.hp2 HG03225.hp2 HG04115.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0045 a0001c0001t0001g0120 a0001c0001t0003g0110 a0001c0001t0001g0045 a0001c0001t0001g0120 a0001c0001t0003g0110	3	427	0.0070	34	c.-83 others(51): Show c.-83+3834_-83+3835insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	OR5V1	ENSG00000243729.5	transcript	ENST00000641768.1	protein_coding	1/1			chr6	TogoVar
OR7A10_chr19_14835466_14853922	14844664	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03688.hp2 NA18968.hp1 HG03130.hp2 HG03688.hp2 NA18968.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0003 a0002c0004t0004 a0001c0002t0003 a0002c0004t0004	a0001c0002t0003g0052 a0002c0004t0004g0155 a0001c0002t0003g0052 a0002c0004t0004g0155	3	488	0.0062	34	c.-12 others(51): Show c.-12-2776_-12-2775insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	OR7A10	ENSG00000127515.3	transcript	ENST00000641129.1	protein_coding	1/1			chr19	TogoVar
OR7E24_chr19_9245930_9257625	9253449	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG03704.hp1 HG01952.hp2 HG03704.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0003 a0002c0002t0002 a0003c0003t0003	a0002c0002t0002g0000 a0003c0003t0003g0000 a0002c0002t0002g0000 a0003c0003t0003g0000	2	476	0.0042	34	c.13 others(45): Show c.1386_*1387insATATATATATATATATATATATATATATATATAT	OR7E24	ENSG00000237521.4	transcript	ENST00000456448.3	protein_coding		825		chr19	TogoVar
OR7E24_chr19_9245930_9257625	9253461	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	476	0.0021	34	c.13 others(45): Show c.1398_*1399insATATATATATATATATATATATATATATATATAC	OR7E24	ENSG00000237521.4	transcript	ENST00000456448.3	protein_coding		837		chr19	TogoVar
OR8J3_chr11_56129721_56145201	56130795	A A	AAGTCTTG others(27): Show AAGTCTTGCAGGTGTTTTAACATTAAGGTCTAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	412	0.0024	34	c.59 others(45): Show c.5975_*5976insCCCTAGACCTTAATGTTAAAACACCTGCAAGACT	OR8J3	ENSG00000167822.3	transcript	ENST00000642058.1	protein_coding		3925		chr11	TogoVar
ORC3_chr6_87585135_87672451	87602954	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	378	0.0027	34	c.178 others(49): Show c.178-413_178-412insTATATATATATATATATATATATATATATA TATA	ORC3	ENSG00000135336.16	transcript	ENST00000392844.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ORC3_chr6_87585135_87672451	87644079	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02293.hp2 NA18966.hp2 HG01069.hp2 HG02293.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0206 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0206	3	378	0.0079	34	c.138 others(53): Show c.1382+7624_1382+7625insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	ORC3	ENSG00000135336.16	transcript	ENST00000392844.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ORC6_chr16_46684659_46703394	46691958	A A	ACACACAC others(27): Show ACACACACACACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0170 a0001c0001t0004g0170	1	368	0.0027	34	c.196 others(49): Show c.196-423_196-422insACACACACACACTCTCTCTCTCTCTCTCTC TCTC	ORC6	ENSG00000091651.9	transcript	ENST00000219097.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
ORC6_chr16_46684659_46703394	46691958	A A	ACACACAC others(27): Show ACACACACACTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	368	0.0027	34	c.196 others(49): Show c.196-423_196-422insACACACACTCTCTCTCTCTCTCTCTCTCTC TCTC	ORC6	ENSG00000091651.9	transcript	ENST00000219097.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
ORM1_chr9_114318098_114331479	114318916	T T	TAGATATA others(27): Show TAGATATAGATGATAGATAGATGATAGATAGATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG02723.hp1 HG01192.hp1 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0002c0002t0001g0013 a0001c0001t0001g0002 a0002c0002t0001g0013	2	464	0.0043	34	c.-42 others(45): Show c.-4218_-4217insAGATATAGATGATAGATAGATGATAGATAGATTA	ORM1	ENSG00000229314.6	transcript	ENST00000259396.9	protein_coding		4181		chr9	TogoVar
ORM1_chr9_114318098_114331479	114318927	T T	TAGATATA others(27): Show TAGATATAGATGATAGATAGATGATAGATAGATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18942.hp2 NA18747.hp1 NA18942.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0001 a0002c0004t0001 a0001c0003t0001 a0002c0004t0001	a0001c0003t0001g0055 a0002c0004t0001g0027 a0001c0003t0001g0055 a0002c0004t0001g0027	2	464	0.0043	34	c.-42 others(45): Show c.-4207_-4206insAGATATAGATGATAGATAGATGATAGATAGATTA	ORM1	ENSG00000229314.6	transcript	ENST00000259396.9	protein_coding		4170		chr9	TogoVar
ORM1_chr9_114318098_114331479	114318927	T T	TATAGATG others(27): Show TATAGATGATAGATAGATGATAGATAGATTAGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	464	0.0022	34	c.-42 others(45): Show c.-4207_-4206insATAGATGATAGATAGATGATAGATAGATTAGATA	ORM1	ENSG00000229314.6	transcript	ENST00000259396.9	protein_coding		4170		chr9	TogoVar
OSBPL10_chr3_31655825_31986262	31740857	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02451.hp1 HG02723.hp2 others(4): Show HG00639.hp2 HG02451.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03139.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0033 a0001c0001 a0004c0033	a0001c0001t0001 a0004c0033t0001 a0001c0001t0001 a0004c0033t0001	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0075 others(4): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0099 a0004c0033t0001g0110	7	186	0.0376	34	c.940 others(51): Show c.940+7052_940+7053insTATATATATATATATATATATATATATA TATATA	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	5/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31761813	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	186	0.0054	34	c.730 others(53): Show c.730-13694_730-13693insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL1A_chr18_24157052_24402824	24175104	G G	GTATATAT others(27): Show GTATATATATATATATATGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp1 HG02976.hp2 others(1): Show HG02559.hp1 HG02723.hp1 HG02976.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0004t0003 a0001c0003t0003 a0001c0004t0003	a0001c0003t0003g0048 a0001c0003t0003g0187 a0001c0003t0003g0190 others(1): Show a0001c0003t0003g0048 a0001c0003t0003g0187 a0001c0003t0003g0190 a0001c0004t0003g0194	4	206	0.0194	34	c.209 others(53): Show c.2094-2622_2094-2621insTATATATATATATATACATATATATA TATATATA	OSBPL1A	ENSG00000141447.19	transcript	ENST00000319481.8	protein_coding	21/27			chr18	TogoVar
OSCAR_chr19_54089668_54105803	54089940	G G	GTTGTTTT others(27): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	443	0.0023	34	c.52 others(45): Show c.5280_*5281insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAA	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		4727		chr19	TogoVar
OSCAR_chr19_54089668_54105803	54089940	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG02015.hp2 others(6): Show HG00099.hp2 HG00733.hp1 HG02015.hp2 HG02965.hp2 NA18940.hp1 NA18959.hp1 NA18990.hp1 NA19058.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 others(5): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0254 a0001c0001t0001g0324 a0001c0001t0001g0338 a0001c0003t0001g0208 a0002c0002t0001g0023	9	443	0.0203	34	c.52 others(45): Show c.5280_*5281insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		4727		chr19	TogoVar
OSCAR_chr19_54089668_54105803	54096547	T T	TCTGCTCC others(27): Show TCTGCTCCCTCTCTCTCTGCCTCCCTCTCTCCTCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0189 a0001c0003t0001g0189	1	443	0.0023	34	c.373 others(49): Show c.373+314_373+315insGGAGGAGAGAGGGAGGCAGAGAGAGAGGGA GCAG	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding	3/4			chr19	TogoVar
OSCP1_chr1_36412906_36455451	36427299	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03195.hp1 HG02895.hp2 HG03195.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0262 a0004c0004t0001g0296 a0004c0004t0001g0262 a0004c0004t0001g0296	2	380	0.0053	34	c.517 others(51): Show c.517-3834_517-3833insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	OSCP1	ENSG00000116885.18	transcript	ENST00000235532.9	protein_coding	4/9			chr1	TogoVar
OSGIN1_chr16_83948240_83971332	83950594	C C	CGTACACA others(27): Show CGTACACACATGCACACATGAACACGTGCACACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0205 a0001c0003t0003g0205	1	350	0.0029	34	c.-28 others(45): Show c.-2809_-2808insGTACACACATGCACACATGAACACGTGCACACGT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2645		chr16	TogoVar
OSMR_chr5_38841012_38940641	38898950	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0262 a0001c0001t0009g0262	1	382	0.0026	34	c.992 others(51): Show c.992-4908_992-4907insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	OSMR	ENSG00000145623.13	transcript	ENST00000274276.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
OSTF1_chr9_75083514_75152265	75139055	T T	TTTCTTTC others(27): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0059 a0001c0001t0017g0059	1	366	0.0027	34	c.487 others(51): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139056	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0232 a0001c0001t0006g0232	1	366	0.0027	34	c.487 others(51): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTOA_chr16_21658968_21765729	21695891	A A	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0082	1	320	0.0031	34	c.740 others(51): Show c.740-1883_740-1882insATATATATATATATATATTTTTTTTTTT TTTTTT	OTOA	ENSG00000155719.18	transcript	ENST00000646100.2	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr16	TogoVar
OTOF_chr2_26452203_26483124	26476536	C C	CCCTTCCC others(27): Show CCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0178 a0002c0004t0003g0178	1	330	0.0030	34	c.436 others(49): Show c.436-220_436-219insTGGGGAAGGAGGTGGGGGAAGGGGTGGGGG AAGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476536	C C	CCCTTCCC others(27): Show CCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0154 a0003c0005t0002g0154	1	284	0.0035	34	c.267 others(51): Show c.2677-220_2677-219insTGGGGAAGGAGGTGGGGGAAGGGGTGGG GGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
OTOP1_chr4_4183726_4231929	4220084	T T	TATACATA others(27): Show TATACATATACGTGTATATACATATATATGTATAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0329 a0002c0002t0001g0329	1	428	0.0023	34	c.403 others(51): Show c.403+6377_403+6378insGTATACATATATATGTATATACACGTAT ATGTAT	OTOP1	ENSG00000163982.6	transcript	ENST00000296358.5	protein_coding	1/5			chr4	TogoVar
OTOP1_chr4_4183726_4231929	4220084	T T	TATATATA others(27): Show TATATATATACGTGTATATACATATATATGTATAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	428	0.0023	34	c.403 others(51): Show c.403+6377_403+6378insGTATACATATATATGTATATACACGTAT ATATAT	OTOP1	ENSG00000163982.6	transcript	ENST00000296358.5	protein_coding	1/5			chr4	TogoVar
OTUD7A_chr15_31470398_31875673	31564387	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01978.hp1 HG02615.hp2 others(1): Show HG01169.hp1 HG01978.hp1 HG02615.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0015 a0001c0001t0054 a0002c0003t0009 a0001c0001t0015 a0001c0001t0054 a0002c0003t0009	a0001c0001t0015g0173 a0001c0001t0015g0174 a0001c0001t0054g0223 others(1): Show a0001c0001t0015g0173 a0001c0001t0015g0174 a0001c0001t0054g0223 a0002c0003t0009g0002	4	244	0.0164	34	c.332 others(51): Show c.332-5201_332-5200insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	4/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31753685	A A	ATATATAT others(27): Show ATATATATATATATATATTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0153 a0001c0001t0016g0153	1	244	0.0041	34	c.-99 others(53): Show c.-99-96609_-99-96608insATATATATATATATATAATATATATA TATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31753704	A A	ATATATAT others(27): Show ATATATATATATATATTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18956.hp1 NA18962.hp1 others(6): Show NA18954.hp2 NA18956.hp1 NA18962.hp1 NA18993.hp2 NA18995.hp1 NA19065.hp1 NA19066.hp2 NA19083.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0002t0001 a0002c0003t0003	a0001c0001t0001g0135 a0001c0001t0002g0126 a0001c0001t0002g0127 others(6): Show a0001c0001t0001g0135 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0133 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0013g0155 a0001c0002t0001g0129 a0002c0003t0003g0141	9	244	0.0369	34	c.-99 others(53): Show c.-99-96628_-99-96627insATATATATATATATATATAATATATA TATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar

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