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
TMEM242_chr6_157284025_157328519	157309791	G G	GAGGCTTG others(20): Show GAGGCTTGTGACTTAAGTATTGTGACTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01346.hp1 HG01358.hp2 others(4): Show HG01175.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG02486.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0036 a0001c0001t0002 a0001c0001t0036	a0001c0001t0002g0015 a0001c0001t0002g0261 a0001c0001t0002g0262 others(3): Show a0001c0001t0002g0015 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0036g0190	7	344	0.0204	27	c.327 others(44): Show c.327+8990_327+8991insAAGTCACAATACTTAAGTCACAAGCCT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM245_chr9_109010135_109124947	109083925	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0109 a0001c0001t0083g0109	1	422	0.0024	27	c.134 others(46): Show c.1344+2071_1344+2072insGTTTTTTTTTTTTTTTTTTTTTTTTT T	TMEM245	ENSG00000106771.13	transcript	ENST00000374586.8	protein_coding	7/17			chr9	TogoVar
TMEM260_chr14_56574798_56654515	56613910	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0334 a0001c0001t0005g0334	1	364	0.0028	27	c.857 others(44): Show c.857+1625_857+1626insAAAAAAAAAAAAAAAAAAAAAAAAAAT	TMEM260	ENSG00000070269.14	transcript	ENST00000261556.11	protein_coding	7/15			chr14	TogoVar
TMEM268_chr9_114606291_114651422	114615567	C C	CCTAGAAC others(20): Show CCTAGAACTGGCGTTTAAACTGGTTAGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 HG02717.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0211 a0001c0001t0013g0213 a0001c0001t0013g0211 a0001c0001t0013g0213	2	406	0.0049	27	c.-78 others(44): Show c.-78-1548_-78-1522dupAGAACTGGCGTTTAAACTGGTTAGTCT	TMEM268	ENSG00000157693.15	transcript	ENST00000288502.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMEM273_chr10_49149736_49193391	49186038	A A	AGAAGAAG others(20): Show AGAAGAAGAAGAGGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA20752.hp1 HG00544.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0144 a0001c0004t0002g0145 a0001c0001t0001g0144 a0001c0004t0002g0145	2	362	0.0055	27	c.43+ others(42): Show c.43+2255_43+2256insCTCTTCTTCTTCTTCCTCTTCTTCTTC	TMEM273	ENSG00000204161.15	transcript	ENST00000374153.7	protein_coding	1/6			chr10	TogoVar
TMEM273_chr10_49149736_49193391	49186053	G G	GGAAGAAG others(20): Show GGAAGAAGAAGAAGAAGAGGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	362	0.0028	27	c.43+ others(42): Show c.43+2240_43+2241insTTCTTCTTCCTCTTCTTCTTCTTCTTC	TMEM273	ENSG00000204161.15	transcript	ENST00000374153.7	protein_coding	1/6			chr10	TogoVar
TMEM273_chr10_49149736_49193391	49186068	G G	GGAAGAAG others(20): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	362	0.0028	27	c.43+ others(42): Show c.43+2199_43+2225dupTTCTTCTTCTTCTTCTTCTTCTTCTTC	TMEM273	ENSG00000204161.15	transcript	ENST00000374153.7	protein_coding	1/6			chr10	TogoVar
TMEM273_chr10_49149736_49193391	49186068	G G	GGAAGAAG others(20): Show GGAAGAAGAAGAAGAATAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03041.hp1 HG01192.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0268 a0001c0001t0005g0269	2	362	0.0055	27	c.43+ others(42): Show c.43+2225_43+2226insTTCTTCTTCTTATTCTTCTTCTTCTTC	TMEM273	ENSG00000204161.15	transcript	ENST00000374153.7	protein_coding	1/6			chr10	TogoVar
TMEM273_chr10_49149736_49193391	49190185	A A	ACCTAAAC others(20): Show ACCTAAACACCAGCATGAACTTCTGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	362	0.0028	27	c.-18 others(38): Show c.-1850_-1849insGAGCAGAAGTTCATGCTGGTGTTTAGG	TMEM273	ENSG00000204161.15	transcript	ENST00000374153.7	protein_coding		1795		chr10	TogoVar
TMEM275_chr1_46527166_46540515	46540379	G G	GCGCGCTG others(20): Show GCGCGCTGCGCGCGCGCGCGCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	434	0.0023	27	c.-56 others(38): Show c.-5625_-5624insTGTGTGTGCGCGCGCGCGCGCAGCGCG	TMEM275	ENSG00000282881.3	transcript	ENST00000697682.1	protein_coding		4865		chr1	TogoVar
TMEM40_chr3_12728528_12764259	12755233	C C	CTCTCTCT others(20): Show CTCTCTCTCTCTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	344	0.0029	27	c.-9+ others(42): Show c.-9+3957_-9+3958insAAGAAAGAAAGAAAGAAGAGAGAGAGA	TMEM40	ENSG00000088726.16	transcript	ENST00000314124.12	protein_coding	1/11			chr3	TogoVar
TMEM40_chr3_12728528_12764259	12755233	C C	CTCTCTCT others(20): Show CTCTCTCTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0047 a0002c0004t0001g0047	1	344	0.0029	27	c.-9+ others(42): Show c.-9+3957_-9+3958insAAGAAAGAAAGAAAGAAAGAAGAGAGA	TMEM40	ENSG00000088726.16	transcript	ENST00000314124.12	protein_coding	1/11			chr3	TogoVar
TMEM45B_chr11_129810848_129865003	129837585	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG04199.hp2 HG04228.hp1 others(1): Show HG02027.hp1 HG04199.hp2 HG04228.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0182 a0001c0001t0004g0160 a0001c0001t0004g0245 others(1): Show a0001c0001t0002g0182 a0001c0001t0004g0160 a0001c0001t0004g0245 a0001c0001t0004g0246	4	404	0.0099	27	c.-8- others(44): Show c.-8-14875_-8-14874insTTTTTTTTTTTTTTTTTTTTTTTTTTT	TMEM45B	ENSG00000151715.8	transcript	ENST00000281441.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM45B_chr11_129810848_129865003	129851543	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG01106.hp1 others(28): Show HG00423.hp2 HG00621.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01258.hp2 HG01358.hp2 HG02004.hp2 HG02040.hp2 HG02135.hp2 HG02602.hp1 HG03516.hp1 HG03669.hp1 HG04228.hp1 NA18945.hp1 NA18955.hp2 NA18960.hp1 NA18962.hp2 NA18979.hp2 NA19000.hp2 NA19006.hp2 NA19010.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19072.hp1 NA19072.hp2 NA19085.hp2 NA19091.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0007t0002	a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0095 others(28): Show a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0095 a0001c0001t0002g0102 a0001c0001t0002g0175 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0002g0214 a0001c0001t0002g0237 a0001c0001t0002g0272 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0202 a0001c0001t0004g0241 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0266 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0297 a0001c0001t0004g0309 a0001c0001t0004g0311 a0001c0001t0004g0313 a0001c0001t0004g0343 a0001c0001t0004g0353 a0001c0001t0008g0218 a0001c0007t0002g0227	31	404	0.0767	27	c.-8- others(40): Show c.-8-917_-8-916insAAAAAAAAAAAAAAAAAAAAAAAAAAA	TMEM45B	ENSG00000151715.8	transcript	ENST00000281441.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM52B_chr12_10174032_10196804	10192256	T T	TATCCTAA others(20): Show TATCCTAAAGGATAAGACATAATGTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18963.hp1 NA18995.hp1 others(2): Show NA18950.hp2 NA18963.hp1 NA18995.hp1 NA19002.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0250 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0250 a0001c0001t0003g0009	5	430	0.0116	27	c.21 others(38): Show c.2116_*2117insATCCTAAAGGATAAGACATAATGTCTA	TMEM52B	ENSG00000165685.9	transcript	ENST00000543484.2	protein_coding		453		chr12	TogoVar
TMEM61_chr1_54975628_54997288	54996837	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	436	0.0023	27	c.47 others(38): Show c.4734_*4735insTTTTTTTTTTTTTTTTTTTTTTTTTTT	TMEM61	ENSG00000143001.5	transcript	ENST00000371268.4	protein_coding		4550		chr1	TogoVar
TMEM63C_chr14_77176798_77264495	77215614	A A	AAAAAAAG others(20): Show AAAAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18970.hp1 HG02027.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0003g0059 a0001c0001t0001g0004 a0001c0001t0003g0059	2	322	0.0062	27	c.-14 others(44): Show c.-14+2110_-14+2111insAAGAAAAGAAAAGAAAAGAAAAGAAAA	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77235677	G G	GTGGGTGG others(20): Show GTGGGTGGGGGGTCTGGGGAGACTGTGA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0086 a0001c0001t0006g0086	1	322	0.0031	27	c.543 others(42): Show c.543-940_543-939insGGGGTCTGGGGAGACTGTGATGGGTGG	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77236026	A A	AGGGAGAC others(20): Show AGGGAGACTGTGATGGGTGGGGGGTCTG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	322	0.0031	27	c.543 others(42): Show c.543-576_543-575insGTCTGGGGAGACTGTGATGGGTGGGGG	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77236203	T T	TGGGGGTC others(20): Show TGGGGGTCTGGGGAGACTGTGGTGGGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02818.hp1 HG02257.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0012 a0001c0012t0012 a0001c0001t0012 a0001c0012t0012	a0001c0001t0012g0229 a0001c0012t0012g0262 a0001c0001t0012g0229 a0001c0012t0012g0262	2	322	0.0062	27	c.543 others(42): Show c.543-415_543-414insCTGGGGAGACTGTGGTGGGTGGGGGGT	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77236342	G G	GGGGAGAC others(20): Show GGGGAGACTGTGGTGGGTGGGGGGTATA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18948.hp2 NA18941.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0097 a0001c0001t0006g0095 a0001c0001t0001g0097 a0001c0001t0006g0095	2	322	0.0062	27	c.543 others(42): Show c.543-280_543-279insGAGACTGTGGTGGGTGGGGGGTATAGG	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM65_chr8_124301189_124377701	124339222	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0250 a0001c0001t0009g0250	1	348	0.0029	27	c.305 others(44): Show c.305-8431_305-8430insATATATATATATATATATATTTTTTTT	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding	1/6			chr8	TogoVar
TMEM65_chr8_124301189_124377701	124339222	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18987.hp2 NA18947.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0047 a0001c0001t0006 a0001c0001t0047	a0001c0001t0006g0036 a0001c0001t0047g0089 a0001c0001t0006g0036 a0001c0001t0047g0089	2	348	0.0058	27	c.305 others(44): Show c.305-8431_305-8430insATATATATATATATATATATATTTTTT	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding	1/6			chr8	TogoVar
TMEM65_chr8_124301189_124377701	124339222	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0049 a0001c0001t0006g0049	1	348	0.0029	27	c.305 others(44): Show c.305-8431_305-8430insATATATATATATATATATATATATTTT	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding	1/6			chr8	TogoVar
TMEM65_chr8_124301189_124377701	124339222	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0252 a0001c0001t0009g0252	1	348	0.0029	27	c.305 others(44): Show c.305-8431_305-8430insATATATATATATATATATATATATATT	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding	1/6			chr8	TogoVar
TMEM79_chr1_156279325_156297443	156296642	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0003 a0001c0001t0013g0003	1	378	0.0027	27	c.50 others(38): Show c.5044_*5045insGAGAGAGAGAGAGAGAGAGAGAGAGAG	TMEM79	ENSG00000163472.19	transcript	ENST00000405535.3	protein_coding		4200		chr1	TogoVar
TMEM94_chr17_75451635_75505452	75464610	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	354	0.0028	27	c.-10 others(46): Show c.-106-7190_-106-7189insTTTCTTTCTTTCTTTCTTTCTTTCTT T	TMEM94	ENSG00000177728.17	transcript	ENST00000314256.12	protein_coding	1/31			chr17	TogoVar
TMEM94_chr17_75451635_75505452	75464676	C C	CTTCTTCT others(20): Show CTTCTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0344 a0001c0002t0001g0344	1	354	0.0028	27	c.-10 others(46): Show c.-106-7119_-106-7118insCTTTCTTTCTTTCTTTCTTTCTTTCT T	TMEM94	ENSG00000177728.17	transcript	ENST00000314256.12	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM95_chr17_7350156_7362219	7357559	A A	AGAAGAAG others(20): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	432	0.0023	27	c.92 others(36): Show c.927_*928insGAAGAAGAAGAAGAAGAAGAAGAAGAG	TMEM95	ENSG00000182896.13	transcript	ENST00000576060.6	protein_coding		341		chr17	TogoVar
TMIE_chr3_46696392_46715886	46704263	C C	CCCCTAGA others(20): Show CCCCTAGACACCCAGGGCAGGACCATGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01074.hp2 others(2): Show HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01361.hp1 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	5	432	0.0116	27	c.94- others(42): Show c.94-1478_94-1452dupCCATGTCCCTAGACACCCAGGGCAGGA	TMIE	ENSG00000181585.7	transcript	ENST00000643606.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMIGD1_chr17_30311333_30339057	30319261	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	348	0.0029	27	c.641 others(42): Show c.641-349_641-348insATATATATTTTTTTTTTTTTTTTTTTT	TMIGD1	ENSG00000182271.13	transcript	ENST00000328886.5	protein_coding	4/6			chr17	TogoVar
TMIGD1_chr17_30311333_30339057	30319261	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02970.hp2 HG02630.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0129 a0001c0002t0001g0151 a0001c0001t0001g0129 a0001c0002t0001g0151	2	348	0.0058	27	c.641 others(42): Show c.641-349_641-348insATATATATATATTTTTTTTTTTTTTTT	TMIGD1	ENSG00000182271.13	transcript	ENST00000328886.5	protein_coding	4/6			chr17	TogoVar
TMIGD1_chr17_30311333_30339057	30319261	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18974.hp1 NA18994.hp1 HG03453.hp2 NA18974.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0002t0001g0166 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0002t0001g0166	3	348	0.0086	27	c.641 others(42): Show c.641-349_641-348insATATATATATATATTTTTTTTTTTTTT	TMIGD1	ENSG00000182271.13	transcript	ENST00000328886.5	protein_coding	4/6			chr17	TogoVar
TMIGD1_chr17_30311333_30339057	30319261	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02970.hp1 HG03225.hp2 HG00597.hp1 HG02970.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0002t0001g0150 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0002t0001g0150	3	348	0.0086	27	c.641 others(42): Show c.641-349_641-348insATATATATATATATATTTTTTTTTTTT	TMIGD1	ENSG00000182271.13	transcript	ENST00000328886.5	protein_coding	4/6			chr17	TogoVar
TMIGD1_chr17_30311333_30339057	30319261	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03471.hp1 HG02451.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0152 a0001c0001t0001g0140 a0001c0001t0001g0152	2	348	0.0058	27	c.641 others(42): Show c.641-349_641-348insATATATATATATATATATTTTTTTTTT	TMIGD1	ENSG00000182271.13	transcript	ENST00000328886.5	protein_coding	4/6			chr17	TogoVar
TMIGD1_chr17_30311333_30339057	30319261	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	348	0.0029	27	c.641 others(42): Show c.641-349_641-348insATATATATATATATATATATTTTTTTT	TMIGD1	ENSG00000182271.13	transcript	ENST00000328886.5	protein_coding	4/6			chr17	TogoVar
TMIGD3_chr1_111478348_111508633	111502049	A A	ATATAATA others(20): Show ATATAATAAATATATAGGATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp2 others(55): Show HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02155.hp2 HG02280.hp1 HG02486.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG04199.hp2 NA18612.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18960.hp2 NA18964.hp1 NA18968.hp2 NA18970.hp1 NA18972.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18994.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19009.hp1 NA19055.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp2 NA19078.hp1 NA19084.hp2 NA19086.hp2 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0010 a0001c0001 a0001c0002 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0006c0010t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(21): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0115 a0001c0001t0002g0019 a0001c0001t0002g0070 a0001c0001t0003g0072 a0001c0002t0001g0174 a0006c0010t0001g0074	58	464	0.1250	27	c.350 others(42): Show c.350+929_350+955dupATATATATATCCTATATATTTATTATA	TMIGD3	ENSG00000121933.19	transcript	ENST00000369716.9	protein_coding	1/5			chr1	TogoVar
TMIGD3_chr1_111478348_111508633	111502049	A A	ATATAATA others(20): Show ATATAATAAATATATAGGATATATGTAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	464	0.0022	27	c.350 others(42): Show c.350+955_350+956insATACATATATCCTATATATTTATTATA	TMIGD3	ENSG00000121933.19	transcript	ENST00000369716.9	protein_coding	1/5			chr1	TogoVar
TMLHE_chrX_155484011_155617952	155616100	G G	GTCTCTCT others(20): Show GTCTCTCTCCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02738.hp1 HG00621.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0036 a0001c0001t0006 a0001c0001t0036	a0001c0001t0006g0180 a0001c0001t0036g0188 a0001c0001t0006g0180 a0001c0001t0036g0188	2	216	0.0093	27	c.-33 others(38): Show c.-3311_-3310insGAGAGAGAGAGAGAGAGAGGAGAGAGA	TMLHE	ENSG00000185973.12	transcript	ENST00000334398.8	protein_coding		3149		chrX	TogoVar
TMLHE_chrX_155484011_155617952	155616130	C C	CTCTCTCT others(20): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01517.hp1 HG02004.hp1 others(7): Show HG01433.hp1 HG01517.hp1 HG02004.hp1 HG02602.hp1 HG02735.hp1 HG03688.hp1 HG04184.hp1 HG04228.hp1 NA18747.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0034	a0001c0001t0002g0121 a0001c0001t0002g0157 a0001c0001t0002g0165 others(7): Show a0001c0001t0002g0121 a0001c0001t0002g0157 a0001c0001t0002g0165 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0005g0136 a0001c0001t0005g0169 a0001c0001t0007g0140 a0001c0001t0011g0146 a0001c0001t0034g0116	10	216	0.0463	27	c.-33 others(38): Show c.-3341_-3340insAGAGAGAGAGAGAGAGAGAGAGAGAGA	TMLHE	ENSG00000185973.12	transcript	ENST00000334398.8	protein_coding		3179		chrX	TogoVar
TMOD3_chr15_51824653_51920725	51832230	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0348 a0001c0001t0003g0348	1	372	0.0027	27	c.-75 others(44): Show c.-75+2396_-75+2397insATATATATATATATATATATATATAAT	TMOD3	ENSG00000138594.14	transcript	ENST00000308580.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMOD3_chr15_51824653_51920725	51839163	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0327 a0001c0001t0002g0327	1	372	0.0027	27	c.-75 others(44): Show c.-75+9328_-75+9329insTTTTTTTTTTTTTTTTTTTTTTTTTTT	TMOD3	ENSG00000138594.14	transcript	ENST00000308580.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMPRSS11F_chr4_68048198_68134869	68072224	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0071 a0002c0002t0003g0071	1	348	0.0029	27	c.514 others(40): Show c.514+98_514+99insATATATATATATATATATATATATATA	TMPRSS11F	ENSG00000198092.6	transcript	ENST00000356291.3	protein_coding	5/9			chr4	TogoVar
TMPRSS13_chr11_117895641_117934402	117924177	C C	CAAAGAAA others(20): Show CAAAGAAAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0383 a0001c0001t0001g0383	1	462	0.0022	27	c.21+ others(42): Show c.21+5109_21+5110insTCTTTTCTTTTCTTTTCTTTTTTCTTT	TMPRSS13	ENSG00000137747.16	transcript	ENST00000524993.6	protein_coding	1/12			chr11	TogoVar
TMPRSS15_chr21_18264116_18408785	18396792	A A	AAAATCTG others(20): Show AAAATCTGTCTGTCTGTCTGTCTGTCTG	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18939.hp1 NA18956.hp2 others(1): Show HG01975.hp1 NA18939.hp1 NA18956.hp2 NA18961.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0012 a0001c0001 a0002c0002 a0002c0012	a0001c0001t0001 a0002c0002t0001 a0002c0012t0001 a0001c0001t0001 a0002c0002t0001 a0002c0012t0001	a0001c0001t0001g0226 a0001c0001t0001g0227 a0002c0002t0001g0229 others(1): Show a0001c0001t0001g0226 a0001c0001t0001g0227 a0002c0002t0001g0229 a0002c0012t0001g0228	4	314	0.0127	27	c.344 others(44): Show c.344+1086_344+1087insCAGACAGACAGACAGACAGACAGATTT	TMPRSS15	ENSG00000154646.9	transcript	ENST00000284885.8	protein_coding	3/24			chr21	TogoVar
TMPRSS2_chr21_41459305_41513158	41474562	G G	GGTGGGTG others(20): Show GGTGGGTGAGGGGTGGGTGAGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02055.hp2 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0197 a0001c0004t0001g0209 a0001c0004t0001g0197 a0001c0004t0001g0209	2	382	0.0052	27	c.728 others(44): Show c.728-1067_728-1066insTCACCACCTCACCCACCCCTCACCCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS2_chr21_41459305_41513158	41475083	G G	GGGGGTAA others(20): Show GGGGGTAAGGGGATGAGTGAGGGGGTGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	382	0.0026	27	c.727 others(44): Show c.727+1493_727+1494insTCACCCCCTCACTCATCCCCTTACCCC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS2_chr21_41459305_41513158	41475612	G G	GGTGAGGA others(20): Show GGTGAGGAGGTGAGTGAGGGTTGAGGGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0051 a0002c0007t0003g0051	1	382	0.0026	27	c.727 others(42): Show c.727+938_727+964dupTCCCTCAACCCTCACTCACCTCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS7_chr3_112029736_112086269	112080572	T T	TACCACCA others(20): Show TACCACCACTACTACTACTACTATTACC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0031 a0001c0032t0001g0031	1	420	0.0024	27	c.236 others(44): Show c.2362-334_2362-333insTACTACTACTACTATTACCACCACCAC	TMPRSS7	ENSG00000176040.14	transcript	ENST00000452346.7	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMPRSS9_chr19_2355265_2431261	2374931	T T	TCCTGGCA others(20): Show TCCTGGCACCAGGGGGCACAGAACTTGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	114	0.0088	27	c.-26 others(46): Show c.-26+14573_-26+14599dupCTGGCACCAGGGGGCACAGAACTTGG C	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar

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