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
TMEM165_chr4_55390957_55431175	55400309	A A	ATATTATA others(24): Show ATATTATATATTATATATAATATTATATATAG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	382	0.0026	31	c.207 others(48): Show c.207+3918_207+3919insTATATTATATATAATATTATATATAGTA TTA	TMEM165	ENSG00000134851.13	transcript	ENST00000381334.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
TMEM171_chr5_73115575_73136809	73127384	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	450	0.0022	31	c.641 others(48): Show c.641-1005_641-1004insAAAAAAAAAAATATATATATATATATAT ATA	TMEM171	ENSG00000157111.13	transcript	ENST00000454765.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM171_chr5_73115575_73136809	73127384	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19085.hp1 NA18939.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	2	450	0.0044	31	c.641 others(48): Show c.641-1005_641-1004insAAAAAAAAATATATATATATATATATAT ATA	TMEM171	ENSG00000157111.13	transcript	ENST00000454765.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM171_chr5_73115575_73136809	73127384	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA21309.hp2 NA18941.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0246 a0001c0001t0001g0167 a0001c0001t0001g0246	2	450	0.0044	31	c.641 others(48): Show c.641-1005_641-1004insAAAAAAATATATATATATATATATATAT ATA	TMEM171	ENSG00000157111.13	transcript	ENST00000454765.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM171_chr5_73115575_73136809	73127384	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	450	0.0022	31	c.641 others(48): Show c.641-1005_641-1004insAAAAATATATATATATATATATATATAT ATA	TMEM171	ENSG00000157111.13	transcript	ENST00000454765.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM176A_chr7_150795769_150810118	150802105	T T	TCTTCTCT others(24): Show TCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	432	0.0023	31	c.175 others(46): Show c.175-110_175-109insCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT C	TMEM176A	ENSG00000002933.9	transcript	ENST00000004103.8	protein_coding	2/6			chr7	TogoVar
TMEM176B_chr7_150786301_150805364	150802105	T T	TCTTCTCT others(24): Show TCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0262 a0002c0002t0004g0262	1	476	0.0021	31	c.-18 others(42): Show c.-1814_-1813insGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG	TMEM176B	ENSG00000106565.19	transcript	ENST00000326442.10	protein_coding		1742		chr7	TogoVar
TMEM181_chr6_158555091_158640429	158636069	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	334	0.0030	31	c.41 others(42): Show c.4181_*4182insTATATATATATATATATATATATATATATTT	TMEM181	ENSG00000146433.10	transcript	ENST00000684151.1	protein_coding		641		chr6	TogoVar
TMEM181_chr6_158555091_158640429	158636069	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	334	0.0030	31	c.41 others(42): Show c.4181_*4182insTATATATATATATATATATATATATATTTTT	TMEM181	ENSG00000146433.10	transcript	ENST00000684151.1	protein_coding		641		chr6	TogoVar
TMEM181_chr6_158555091_158640429	158636070	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0264 a0001c0001t0014g0264	1	334	0.0030	31	c.41 others(42): Show c.4182_*4183insATATATATATATATATATATATATATATATA	TMEM181	ENSG00000146433.10	transcript	ENST00000684151.1	protein_coding		642		chr6	TogoVar
TMEM184B_chr22_38214291_38278010	38272058	A A	AGGTATCA others(24): Show AGGTATCAGGCATGCAAATACCTGCTTTGCCC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	354	0.0028	31	c.-59 others(46): Show c.-59+795_-59+825dupGGGCAAAGCAGGTATTTGCATGCCTGATAC C	TMEM184B	ENSG00000198792.13	transcript	ENST00000361906.8	protein_coding	1/8			chr22	TogoVar
TMEM192_chr4_165065608_165117860	165069451	T T	TTTTTTTT others(24): Show TTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03471.hp2 HG02630.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0105 a0001c0002t0114 a0001c0001t0105 a0001c0002t0114	a0001c0001t0105g0265 a0001c0002t0114g0016 a0001c0001t0105g0265 a0001c0002t0114g0016	2	330	0.0061	31	c.10 others(44): Show c.10206_*10207insGAAAAAAGGAAAAAAAAAAAAAAAAAAAAAA	TMEM192	ENSG00000170088.14	transcript	ENST00000306480.11	protein_coding		1156		chr4	TogoVar
TMEM199_chr17_28352647_28368683	28353520	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG01109.hp2 others(15): Show HG00735.hp1 HG01106.hp1 HG01109.hp2 HG01346.hp1 HG01361.hp1 HG02071.hp1 HG02257.hp2 HG02258.hp2 HG02559.hp2 HG02615.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03831.hp1 HG06807.hp1 NA18979.hp2 NA18998.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0003c0004t0001 a0004c0005t0004	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0002 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0002 a0002c0002t0002g0002 a0003c0004t0001g0001 a0004c0005t0004g0001	18	372	0.0484	31	c.-41 others(42): Show c.-4151_-4150insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TMEM199	ENSG00000244045.13	transcript	ENST00000292114.8	protein_coding		4126		chr17	TogoVar
TMEM213_chr7_138792994_138811759	138796721	A A	AGTGGAAG others(24): Show AGTGGAAGGTACCCCTATTTGAGTCTTGGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00642.hp1 others(47): Show HG00140.hp1 HG00639.hp1 HG00642.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01433.hp1 HG01496.hp1 HG02129.hp1 HG02257.hp2 HG02486.hp1 HG02698.hp2 HG02717.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG04115.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18946.hp1 NA18952.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18978.hp2 NA18985.hp1 NA19065.hp1 NA19082.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0021 a0001c0001t0041 a0001c0001t0048 a0001c0001t0054 a0001c0001t0056 a0001c0001t0058 a0002c0002t0002 a0003c0003t0033	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0024 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0004g0005 a0001c0001t0005g0020 a0001c0001t0005g0035 a0001c0001t0007g0014 a0001c0001t0014g0025 a0001c0001t0021g0001 a0001c0001t0041g0001 a0001c0001t0048g0001 a0001c0001t0054g0026 a0001c0001t0056g0026 a0001c0001t0058g0054 a0002c0002t0002g0002 a0003c0003t0033g0008	50	456	0.1097	31	c.-13 others(42): Show c.-1384_-1383insGTGGAAGGTACCCCTATTTGAGTCTTGGCAG	TMEM213	ENSG00000214128.11	transcript	ENST00000442682.7	protein_coding		1272		chr7	TogoVar
TMEM221_chr19_17430509_17453668	17450797	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	422	0.0024	31	c.-23 others(42): Show c.-2336_-2335insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TMEM221	ENSG00000188051.7	transcript	ENST00000341130.6	protein_coding		2130		chr19	TogoVar
TMEM221_chr19_17430509_17453668	17453115	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18990.hp2 NA18953.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0158 a0001c0001t0005g0156 a0001c0001t0003g0158 a0001c0001t0005g0156	2	422	0.0047	31	c.-46 others(42): Show c.-4654_-4653insAAAAAAAAAAATATATATATATATATATATA	TMEM221	ENSG00000188051.7	transcript	ENST00000341130.6	protein_coding		4448		chr19	TogoVar
TMEM221_chr19_17430509_17453668	17453115	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG03017.hp1 NA20300.hp1 HG02056.hp1 HG03017.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0165 a0001c0001t0004g0146 a0001c0001t0004g0153 a0001c0001t0002g0165 a0001c0001t0004g0146 a0001c0001t0004g0153	3	422	0.0071	31	c.-46 others(42): Show c.-4654_-4653insAAAAAAAAAAAAATATATATATATATATATA	TMEM221	ENSG00000188051.7	transcript	ENST00000341130.6	protein_coding		4448		chr19	TogoVar
TMEM232_chr5_110414496_110731671	110721673	G G	GATATATA others(24): Show GATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	250	0.0040	31	c.-13 others(48): Show c.-13+4953_-13+4954insTATATATATATATATATATATATATATA TAT	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	1/13			chr5	TogoVar
TMEM248_chr7_66916225_66963551	66929426	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA19072.hp1 NA18989.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0079 a0001c0001t0004g0080	2	398	0.0050	31	c.-19 others(48): Show c.-19+7993_-19+7994insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	TMEM248	ENSG00000106609.16	transcript	ENST00000341567.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM254_chr10_80073665_80097551	80093152	A A	AATATATA others(24): Show AATATATATTTTTTATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0026 a0001c0002t0003g0026	1	390	0.0026	31	c.22 others(42): Show c.2235_*2236insATATATATTTTTTATATATATATATATATAT	TMEM254	ENSG00000133678.14	transcript	ENST00000372281.8	protein_coding		602		chr10	TogoVar
TMEM255B_chr13_113754226_113821995	113788047	A A	AGTGGGGA others(24): Show AGTGGGGATGGGCAGAGGGGAAGGCGGAGGGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01106.hp2 HG01167.hp1 others(9): Show HG00423.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01934.hp2 HG02735.hp2 HG03225.hp1 HG03669.hp1 HG04199.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0016 others(1): Show a0001c0001 a0001c0002 a0001c0016 a0004c0008	a0001c0001t0012 a0001c0001t0021 a0001c0001t0025 others(6): Show a0001c0001t0012 a0001c0001t0021 a0001c0001t0025 a0001c0001t0102 a0001c0002t0058 a0001c0016t0042 a0004c0008t0001 a0004c0008t0082 a0004c0008t0100	a0001c0001t0012g0011 a0001c0001t0012g0142 a0001c0001t0021g0012 others(7): Show a0001c0001t0012g0011 a0001c0001t0012g0142 a0001c0001t0021g0012 a0001c0001t0025g0051 a0001c0001t0102g0143 a0001c0002t0058g0113 a0001c0016t0042g0235 a0004c0008t0001g0140 a0004c0008t0082g0156 a0004c0008t0100g0138	12	260	0.0462	31	c.253 others(48): Show c.253-6776_253-6746dupAGGGGAAGGCGGAGGGGGTGGGGATGGG CAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113811365	A A	AGGTCCTG others(24): Show AGGTCCTGGGTCTGTGGGGGGCCTGTGAGAGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp2 HG01169.hp1 others(31): Show HG00738.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp2 HG01993.hp1 HG02129.hp2 HG02135.hp1 HG02273.hp1 HG02300.hp2 HG02602.hp2 HG02738.hp1 HG03225.hp2 HG03239.hp1 HG03516.hp1 HG03654.hp1 HG03688.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18990.hp1 NA18990.hp2 NA19004.hp2 NA19011.hp2 NA19064.hp1 NA19066.hp1 NA19084.hp1 NA19088.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0010 a0001c0002 a0002c0010	a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 others(23): Show a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0018 a0001c0002t0019 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0043 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0049 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0002t0055 a0001c0002t0056 a0001c0002t0057 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0063 a0002c0010t0048 a0002c0010t0054	a0001c0002t0007g0114 a0001c0002t0007g0123 a0001c0002t0007g0171 others(30): Show a0001c0002t0007g0114 a0001c0002t0007g0123 a0001c0002t0007g0171 a0001c0002t0007g0173 a0001c0002t0008g0099 a0001c0002t0008g0106 a0001c0002t0008g0108 a0001c0002t0008g0109 a0001c0002t0011g0062 a0001c0002t0011g0105 a0001c0002t0018g0032 a0001c0002t0019g0002 a0001c0002t0039g0110 a0001c0002t0040g0216 a0001c0002t0041g0185 a0001c0002t0043g0118 a0001c0002t0045g0126 a0001c0002t0046g0116 a0001c0002t0047g0111 a0001c0002t0049g0117 a0001c0002t0050g0029 a0001c0002t0051g0119 a0001c0002t0052g0219 a0001c0002t0053g0002 a0001c0002t0055g0107 a0001c0002t0056g0063 a0001c0002t0057g0215 a0001c0002t0058g0113 a0001c0002t0059g0022 a0001c0002t0060g0102 a0001c0002t0063g0101 a0002c0010t0048g0035 a0002c0010t0054g0094	34	260	0.1308	31	c.814 others(46): Show c.814-358_814-357insTGGGGGGCCTGTGAGAGTGGTCCTGGGTCT G	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM26_chr10_61401642_61458381	61447164	C C	CATACAAA others(24): Show CATACAAAAATAAAAAAAAAAAAAAAAAACAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	358	0.0028	31	c.191 others(48): Show c.191+5726_191+5727insTTGTTTTTTTTTTTTTTTTTTATTTTTG TAT	TMEM26	ENSG00000196932.12	transcript	ENST00000399298.8	protein_coding	1/5			chr10	TogoVar
TMEM45B_chr11_129810848_129865003	129851543	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02071.hp2 HG02074.hp1 others(7): Show HG01070.hp1 HG02071.hp2 HG02074.hp1 HG02155.hp1 HG02895.hp2 HG02896.hp2 NA18964.hp1 NA18990.hp1 NA19057.hp2 NA19081.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0001c0001t0004 a0005c0006t0002 a0001c0001t0002 a0001c0001t0004 a0005c0006t0002	a0001c0001t0002g0170 a0001c0001t0002g0180 a0001c0001t0002g0181 others(7): Show a0001c0001t0002g0170 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0187 a0001c0001t0002g0191 a0001c0001t0002g0234 a0001c0001t0002g0302 a0001c0001t0002g0331 a0001c0001t0004g0261 a0005c0006t0002g0221	10	404	0.0248	31	c.-8- others(44): Show c.-8-917_-8-916insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TMEM45B	ENSG00000151715.8	transcript	ENST00000281441.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM61_chr1_54975628_54997288	54996837	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19030.hp1 NA19070.hp1 NA19012.hp2 NA19030.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0022 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0022	3	436	0.0069	31	c.47 others(42): Show c.4734_*4735insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TMEM61	ENSG00000143001.5	transcript	ENST00000371268.4	protein_coding		4550		chr1	TogoVar
TMEM63C_chr14_77176798_77264495	77215614	A A	AAAAAAGA others(24): Show AAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02602.hp1 HG04199.hp2 others(7): Show HG00438.hp2 HG02602.hp1 HG04199.hp2 HG04204.hp1 NA18941.hp2 NA18945.hp2 NA18984.hp1 NA18999.hp2 NA19011.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0027 a0001c0001t0040 a0001c0002t0019	a0001c0001t0001g0019 a0001c0001t0001g0094 a0001c0001t0001g0100 others(7): Show a0001c0001t0001g0019 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0003g0054 a0001c0001t0005g0085 a0001c0001t0006g0023 a0001c0001t0006g0095 a0001c0001t0027g0057 a0001c0001t0040g0102 a0001c0002t0019g0016	10	322	0.0311	31	c.-14 others(48): Show c.-14+2110_-14+2111insAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAA	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77221453	A A	ACCTCCCC others(24): Show ACCTCCCCTCCCACTCACGCCTCCCATTCACG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0020 a0001c0001t0015g0020	1	322	0.0031	31	c.312 others(48): Show c.312+1377_312+1407dupCACTCACGCCTCCCATTCACGCCTCCCC TCC	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM65_chr8_124301189_124377701	124302028	A A	AAATATAT others(24): Show AAATATATATTCTTTTATATATATTTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0029 a0001c0001t0046g0029	1	348	0.0029	31	c.11 others(44): Show c.11931_*11932insATATATAAATATATATAAAAGAATATATATT	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		4160		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124339222	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0117 a0001c0001t0006g0117	1	348	0.0029	31	c.305 others(48): Show c.305-8431_305-8430insATATATATATATATATATATATATATTT TTT	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding	1/6			chr8	TogoVar
TMEM65_chr8_124301189_124377701	124339222	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA19083.hp2 HG04184.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0093 a0001c0001t0007g0037 a0001c0001t0006g0093 a0001c0001t0007g0037	2	348	0.0058	31	c.305 others(48): Show c.305-8431_305-8430insATATATATATATATATATATATATATAT TTT	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding	1/6			chr8	TogoVar
TMEM68_chr8_55733758_55778378	55754842	A A	ATATATAT others(24): Show ATATATATTTATATTATATATAAAATATATAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	372	0.0027	31	c.493 others(48): Show c.493+1371_493+1401dupCTATATATTTTATATATAATATAAATAT ATA	TMEM68	ENSG00000167904.16	transcript	ENST00000434581.7	protein_coding	4/7			chr8	TogoVar
TMEM87B_chr2_112050269_112124314	112051508	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	316	0.0032	31	c.-40 others(42): Show c.-4084_-4083insTATATATATATATATATATATATATATTTTT	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding		3760		chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112054570	A A	ACGCGGCC others(24): Show ACGCGGCCCCGCCTCCACGCGGCCCCGCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0230 a0001c0001t0011g0230	1	316	0.0032	31	c.-10 others(42): Show c.-1022_-1021insCGCGGCCCCGCCTCCACGCGGCCCCGCCTCC	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding		698		chr2	TogoVar
TMIGD1_chr17_30311333_30339057	30319261	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03239.hp2 HG03704.hp2 others(2): Show HG01099.hp1 HG03239.hp2 HG03704.hp2 HG03927.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0023 a0001c0001t0002g0047 a0001c0001t0002g0072 others(2): Show a0001c0001t0002g0023 a0001c0001t0002g0047 a0001c0001t0002g0072 a0001c0001t0002g0089 a0001c0001t0003g0023	5	348	0.0144	31	c.641 others(46): Show c.641-349_641-348insATATATATATATTTTTTTTTTTTTTTTTTT T	TMIGD1	ENSG00000182271.13	transcript	ENST00000328886.5	protein_coding	4/6			chr17	TogoVar
TMIGD1_chr17_30311333_30339057	30319261	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01346.hp2 HG01993.hp2 others(5): Show HG01070.hp1 HG01346.hp2 HG01993.hp2 HG02074.hp1 HG02273.hp1 NA18948.hp1 NA18989.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0048 a0001c0001t0002g0085 others(4): Show a0001c0001t0002g0025 a0001c0001t0002g0048 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0002g0113 a0001c0001t0002g0120 a0001c0001t0002g0121	8	348	0.0230	31	c.641 others(46): Show c.641-349_641-348insATATATATATATATTTTTTTTTTTTTTTTT T	TMIGD1	ENSG00000182271.13	transcript	ENST00000328886.5	protein_coding	4/6			chr17	TogoVar
TMIGD1_chr17_30311333_30339057	30319261	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01496.hp1 others(4): Show HG01070.hp2 HG01071.hp2 HG01496.hp1 HG02559.hp1 NA18612.hp2 NA18946.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0107 others(2): Show a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0107 a0001c0001t0003g0068 a0001c0001t0003g0082	7	348	0.0201	31	c.641 others(46): Show c.641-349_641-348insATATATATATATATATTTTTTTTTTTTTTT T	TMIGD1	ENSG00000182271.13	transcript	ENST00000328886.5	protein_coding	4/6			chr17	TogoVar
TMIGD1_chr17_30311333_30339057	30319261	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18957.hp1 NA18992.hp2 HG01952.hp2 NA18957.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	3	348	0.0086	31	c.641 others(46): Show c.641-349_641-348insATATATATATATATATATTTTTTTTTTTTT T	TMIGD1	ENSG00000182271.13	transcript	ENST00000328886.5	protein_coding	4/6			chr17	TogoVar
TMIGD1_chr17_30311333_30339057	30319261	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02976.hp2 HG02818.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	348	0.0058	31	c.641 others(46): Show c.641-349_641-348insATATATATATATATATATATATATTTTTTT T	TMIGD1	ENSG00000182271.13	transcript	ENST00000328886.5	protein_coding	4/6			chr17	TogoVar
TMIGD1_chr17_30311333_30339057	30319261	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	348	0.0029	31	c.641 others(46): Show c.641-349_641-348insATATATATATATATATATATATATATATAT T	TMIGD1	ENSG00000182271.13	transcript	ENST00000328886.5	protein_coding	4/6			chr17	TogoVar
TMLHE_chrX_155484011_155617952	155616130	C C	CTCTCTCT others(24): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0108 a0001c0001t0038g0108	1	216	0.0046	31	c.-33 others(42): Show c.-3341_-3340insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	TMLHE	ENSG00000185973.12	transcript	ENST00000334398.8	protein_coding		3179		chrX	TogoVar
TMOD3_chr15_51824653_51920725	51832203	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	372	0.0027	31	c.-75 others(48): Show c.-75+2367_-75+2368insATATATATATATATATATATATATATAT ATA	TMOD3	ENSG00000138594.14	transcript	ENST00000308580.12	protein_coding	1/9			chr15	TogoVar
TMPRSS15_chr21_18264116_18408785	18280575	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0015 a0015	a0015c0036 a0015c0036	a0015c0036t0002 a0015c0036t0002	a0015c0036t0002g0085 a0015c0036t0002g0085	1	314	0.0032	31	c.266 others(48): Show c.2668+464_2668+465insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	TMPRSS15	ENSG00000154646.9	transcript	ENST00000284885.8	protein_coding	22/24			chr21	TogoVar
TMPRSS2_chr21_41459305_41513158	41475083	G G	GGAGGTGA others(24): Show GGAGGTGAGGGGGTGAGTGAGGGGGTGGGTGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01123.hp2 HG01978.hp2 others(1): Show HG01070.hp1 HG01123.hp2 HG01978.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0301 a0001c0001t0001g0348 a0001c0002t0001g0325 others(1): Show a0001c0001t0001g0301 a0001c0001t0001g0348 a0001c0002t0001g0325 a0001c0002t0001g0330	4	382	0.0105	31	c.727 others(48): Show c.727+1493_727+1494insTCACCCACCCCCTCACTCACCCCCTCAC CTC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS5_chr11_113682550_113711308	113705901	G G	GAAAAAAA others(24): Show GAAAAAAACCCAAGCTCATGTGCTAGCCTAGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	426	0.0024	31	c.3+3 others(42): Show c.3+320_3+321insTCTAGGCTAGCACATGAGCTTGGGTTTTTTT	TMPRSS5	ENSG00000166682.13	transcript	ENST00000299882.11	protein_coding	1/12			chr11	TogoVar
TMPRSS6_chr22_37060436_37114713	37078973	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0279 a0001c0005t0001g0279	1	348	0.0029	31	c.119 others(50): Show c.1197-3694_1197-3693insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	10/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37079020	A A	AGAAAGAA others(24): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0044 a0001c0022t0001g0044	1	348	0.0029	31	c.119 others(50): Show c.1197-3741_1197-3740insCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	10/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37097880	G G	GGGCCACC others(24): Show GGGCCACCGTCCTGTAACGGAGGGGCAGGAGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01070.hp1 NA18947.hp2 others(2): Show HG00621.hp1 HG01070.hp1 NA18947.hp2 NA18972.hp1 NA20752.hp1	a0003 a0003	a0003c0002 a0003c0018 a0003c0002 a0003c0018	a0003c0002t0001 a0003c0018t0001 a0003c0002t0001 a0003c0018t0001	a0003c0002t0001g0285 a0003c0002t0001g0286 a0003c0002t0001g0287 others(2): Show a0003c0002t0001g0285 a0003c0002t0001g0286 a0003c0002t0001g0287 a0003c0018t0001g0204 a0003c0018t0001g0205	5	348	0.0144	31	c.336 others(46): Show c.336+535_336+536insGCTCCTGCCCCTCCGTTACAGGACGGTGGC C	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37097880	G G	GGGCCACC others(24): Show GGGCCACCGTCCTGTAACGGAGGGGCAGGAGT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19077.hp1 NA19085.hp1 NA18998.hp2 NA19077.hp1 NA19085.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0001 a0001c0009t0001g0052 a0001c0009t0001g0001 a0001c0009t0001g0052	3	348	0.0086	31	c.336 others(46): Show c.336+535_336+536insACTCCTGCCCCTCCGTTACAGGACGGTGGC C	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS9_chr19_2355265_2431261	2385173	G G	GGGGGGCG others(24): Show GGGGGGCGGGGCTCGCGGGGGGCGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	114	0.0088	31	c.-25 others(48): Show c.-25-4568_-25-4567insGCGGGGCTCGCGGGGGCGGGGCTCGCGG GGG	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMSB15B_chrX_103957627_103970976	103967419	T T	TCTCTTTC others(24): Show TCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	268	0.0037	31	c.18 others(42): Show c.1843_*1844insCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	TMSB15B	ENSG00000158427.15	transcript	ENST00000540220.6	protein_coding		1444		chrX	TogoVar

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