Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TRIM49B_chr11_49023823_49043155	49035339	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0057	1	43	0.0233	17	c.761 others(32): Show c.761+244_761+260dupTTTTTTTTTTTTTTTTT	TRIM49B	ENSG00000182053.13	transcript	ENST00000332682.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRIM4_chr7_99885403_99924530	99887308	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01167.hp2 HG01169.hp2 HG01081.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0116 a0001c0003t0001g0025 a0001c0003t0001g0116	3	270	0.0111	17	c.48 others(28): Show c.4854_*4855insGCAAAAAAAAAAAAAAA	TRIM4	ENSG00000146833.16	transcript	ENST00000349062.7	protein_coding		3094		chr7	TogoVar
TRIM4_chr7_99885403_99924530	99887309	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0050 a0001c0003t0001g0050	1	316	0.0032	17	c.48 others(28): Show c.4853_*4854insGCAAAAAAAAAAAAAAA	TRIM4	ENSG00000146833.16	transcript	ENST00000349062.7	protein_coding		3093		chr7	TogoVar
TRIM4_chr7_99885403_99924530	99887310	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(106): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG00438.hp1 HG00639.hp1 HG00673.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02015.hp1 HG02027.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02135.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02602.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02976.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18999.hp2 NA19000.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19072.hp2 NA19078.hp2 NA19080.hp2 NA19083.hp1 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0002 a0001c0011 a0001c0013 others(3): Show a0001c0002 a0001c0011 a0001c0013 a0002c0004 a0003c0005 a0007c0010	a0001c0002t0001 a0001c0002t0012 a0001c0011t0010 others(4): Show a0001c0002t0001 a0001c0002t0012 a0001c0011t0010 a0001c0013t0001 a0002c0004t0001 a0003c0005t0001 a0007c0010t0008	a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0018 others(44): Show a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0048 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0012g0082 a0001c0011t0010g0045 a0001c0013t0001g0057 a0002c0004t0001g0007 a0002c0004t0001g0008 a0002c0004t0001g0031 a0002c0004t0001g0054 a0002c0004t0001g0066 a0002c0004t0001g0127 a0003c0005t0001g0022 a0003c0005t0001g0035 a0003c0005t0001g0084 a0003c0005t0001g0085 a0007c0010t0008g0044	109	301	0.3621	17	c.48 others(28): Show c.4852_*4853insGCAAAAAAAAAAAAAAA	TRIM4	ENSG00000146833.16	transcript	ENST00000349062.7	protein_coding		3092		chr7	TogoVar
TRIM4_chr7_99885403_99924530	99889219	A A	ACGTGGGG others(10): Show ACGTGGGGAGAGGGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18992.hp2 NA18994.hp1 others(1): Show NA18985.hp2 NA18992.hp2 NA18994.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0113 a0001c0001t0002g0023 a0001c0001t0002g0113	4	320	0.0125	17	c.29 others(28): Show c.2927_*2943dupGTCTCCCTCTCCCCACG	TRIM4	ENSG00000146833.16	transcript	ENST00000349062.7	protein_coding		1183		chr7	TogoVar
TRIM58_chr1_247852187_247885138	247858752	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0282 a0002c0003t0020g0282	1	30	0.0333	17	c.420 others(34): Show c.420+1096_420+1112dupTTTTTTTTTTTTTTTTT	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM5_chr11_5658195_5690074	5687017	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0214 a0002c0001t0006g0214	1	336	0.0030	17	c.-22 others(28): Show c.-2212_-2211insACTTTTTTTTTTTTTTT	TRIM5	ENSG00000132256.20	transcript	ENST00000380034.8	protein_coding		1944		chr11	TogoVar
TRIM60_chr4_165026999_165046749	165028102	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02965.hp1 HG03471.hp2 others(4): Show HG02630.hp1 HG02965.hp1 HG03471.hp2 HG04228.hp1 NA18977.hp2 NA19054.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0002g0003 a0001c0001t0003g0030 a0002c0002t0001g0031 others(3): Show a0001c0001t0002g0003 a0001c0001t0003g0030 a0002c0002t0001g0031 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082	7	131	0.0534	17	c.-40 others(28): Show c.-4067_-4066insAAAAAAAAAAAAAAAAA	TRIM60	ENSG00000176979.14	transcript	ENST00000512596.6	protein_coding		3896		chr4	TogoVar
TRIM64B_chr11_89865438_89883487	89878742	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18999.hp2 NA18973.hp2 NA18999.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0007 a0006c0006t0001g0007	2	52	0.0385	17	c.-37 others(26): Show c.-376_-375insAAAAAAAAAAAAAAAAA	TRIM64B	ENSG00000189253.8	transcript	ENST00000329862.7	protein_coding		256		chr11	TogoVar
TRIM66_chr11_8607040_8687665	8609733	A A	ACTTTTTT others(10): Show ACTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0007 a0011c0012t0007	a0011c0012t0007g0221 a0011c0012t0007g0222 a0011c0012t0007g0221 a0011c0012t0007g0222	2	188	0.0106	17	c.82 others(28): Show c.8210_*8211insAAAAAAAAAAAAAAAAG	TRIM66	ENSG00000166436.18	transcript	ENST00000646038.2	protein_coding		2306		chr11	TogoVar
TRIM67_chr1_231157058_231226565	231161306	A A	AGAACAGC others(10): Show AGAACAGCCGAGCAGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	352	0.0028	17	c.-16 others(28): Show c.-1664_-1663insGAACAGCCGAGCAGACC	TRIM67	ENSG00000119283.16	transcript	ENST00000366653.6	protein_coding		751		chr1	TogoVar
TRIM67_chr1_231157058_231226565	231169993	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01361.hp2 HG02109.hp2 others(9): Show HG01123.hp2 HG01361.hp2 HG02109.hp2 HG02258.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG03195.hp1 NA18522.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 a0001c0001t0027 a0001c0001t0050 a0001c0004t0013	a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0002g0332 others(9): Show a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0002g0332 a0001c0001t0004g0329 a0001c0001t0004g0331 a0001c0001t0005g0327 a0001c0001t0017g0328 a0001c0001t0017g0334 a0001c0001t0027g0067 a0001c0001t0027g0068 a0001c0001t0050g0346 a0001c0004t0013g0016	12	260	0.0462	17	c.104 others(36): Show c.1044+5990_1044+5991insTTTTTTTTTTTTTTTTT	TRIM67	ENSG00000119283.16	transcript	ENST00000366653.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM67_chr1_231157058_231226565	231176906	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02922.hp2 NA18612.hp2 others(3): Show HG01169.hp1 HG02922.hp2 NA18612.hp2 NA18942.hp2 NA18986.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0017 a0001c0001t0023 others(2): Show a0001c0001t0004 a0001c0001t0017 a0001c0001t0023 a0001c0002t0001 a0001c0002t0003	a0001c0001t0004g0139 a0001c0001t0017g0328 a0001c0001t0023g0131 others(3): Show a0001c0001t0004g0139 a0001c0001t0017g0328 a0001c0001t0023g0131 a0001c0002t0001g0176 a0001c0002t0003g0123 a0001c0002t0003g0130	6	101	0.0594	17	c.104 others(38): Show c.1044+12894_1044+12910dupAAAAAAAAAAAAAAAAA	TRIM67	ENSG00000119283.16	transcript	ENST00000366653.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM67_chr1_231157058_231226565	231193550	C C	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0071 a0001c0003t0006g0071	1	347	0.0029	17	c.104 others(36): Show c.1045-3821_1045-3820insTCTCTCTCTCTCTCTCT	TRIM67	ENSG00000119283.16	transcript	ENST00000366653.6	protein_coding	1/9			chr1	TogoVar
TRIM69_chr15_44731528_44772827	44767053	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	31	0.0323	17	c.962 others(32): Show c.962-163_962-147dupAAAAAAAAAAAAAAAAA	TRIM69	ENSG00000185880.13	transcript	ENST00000329464.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
TRIM71_chr3_32812997_32902824	32833184	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG01167.hp2 others(1): Show HG00423.hp1 HG00621.hp1 HG01167.hp2 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0002c0005t0001	a0001c0001t0001g0007 a0001c0001t0004g0157 a0001c0001t0012g0169 others(1): Show a0001c0001t0001g0007 a0001c0001t0004g0157 a0001c0001t0012g0169 a0002c0005t0001g0008	4	45	0.0889	17	c.852 others(36): Show c.852+14264_852+14280dupAAAAAAAAAAAAAAAAA	TRIM71	ENSG00000206557.6	transcript	ENST00000383763.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
TRIM72_chr16_31209119_31236537	31233938	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01175.hp2 HG01517.hp2 others(13): Show HG00642.hp1 HG01175.hp2 HG01517.hp2 HG02056.hp1 HG02486.hp2 HG02622.hp2 HG02738.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp1 NA18943.hp2 NA18965.hp1 NA18979.hp2 NA18982.hp2 NA18995.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007	a0001c0001t0004g0018 a0001c0001t0004g0039 a0001c0002t0001g0003 others(11): Show a0001c0001t0004g0018 a0001c0001t0004g0039 a0001c0002t0001g0003 a0001c0002t0001g0008 a0001c0002t0001g0056 a0001c0002t0001g0068 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0020 a0001c0002t0002g0053 a0001c0002t0002g0085 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0007g0004	16	45	0.3556	17	c.91 others(28): Show c.9183_*9184insAAAAAAAAAAAAAAAAA	TRIM72	ENSG00000177238.15	transcript	ENST00000322122.8	protein_coding		2402		chr16	TogoVar
TRIM73_chr7_75390629_75410605	75393633	T T	TTCCCCCT others(10): Show TTCCCCCTCTAAGTCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	322	0.0031	17	c.-21 others(28): Show c.-2196_-2195insTCCCCCTCTAAGTCAGC	TRIM73	ENSG00000178809.12	transcript	ENST00000323819.8	protein_coding		1995		chr7	TogoVar
TRIML1_chr4_188134441_188152743	188151734	G G	GGGGGGTG others(10): Show GGGGGGTGAAGGGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	221	0.0045	17	c.43 others(28): Show c.4362_*4363insGGGGGTGAAGGGAGAGA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3992		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152683	G G	GTAGAAGG others(10): Show GTAGAAGGGTAGAGGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	205	0.0049	17	c.53 others(28): Show c.5311_*5312insTAGAAGGGTAGAGGATA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4941		chr4	TogoVar
TRIOBP_chr22_37692048_37781556	37695316	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 NA18906.hp1 HG03195.hp2 NA18906.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0013 a0004c0004t0013	a0004c0004t0013g0185 a0004c0004t0013g0186 a0004c0004t0013g0185 a0004c0004t0013g0186	2	63	0.0317	17	c.-19 others(28): Show c.-1943_-1942insAAAAAAAAAAAAAAAAA	TRIOBP	ENSG00000100106.22	transcript	ENST00000644935.1	protein_coding		1731		chr22	TogoVar
TRIOBP_chr22_37692048_37781556	37745993	C C	CCCGCCCT others(10): Show CCCGCCCTCCGGCCGCCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG03471.hp1 HG02109.hp2 HG02717.hp1 HG03471.hp1	a0016 a0018 a0016 a0018	a0016c0027 a0018c0025 a0016c0027 a0018c0025	a0016c0027t0025 a0018c0025t0022 a0016c0027t0025 a0018c0025t0022	a0016c0027t0025g0197 a0016c0027t0025g0227 a0018c0025t0022g0310 a0016c0027t0025g0197 a0016c0027t0025g0227 a0018c0025t0022g0310	3	320	0.0094	17	c.532 others(36): Show c.5322+4971_5322+4987dupGGCCGCCACCGCCCTCC	TRIOBP	ENSG00000100106.22	transcript	ENST00000644935.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
TRIO_chr5_14138342_14515204	14140186	A A	AATTTTTT others(10): Show AATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02257.hp1 HG02258.hp2 others(1): Show HG01074.hp2 HG02257.hp1 HG02258.hp2 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0012 a0001c0004 a0003c0012	a0001c0004t0011 a0003c0012t0005 a0001c0004t0011 a0003c0012t0005	a0001c0004t0011g0008 a0003c0012t0005g0009 a0003c0012t0005g0010 others(1): Show a0001c0004t0011g0008 a0003c0012t0005g0009 a0003c0012t0005g0010 a0003c0012t0005g0011	4	36	0.1111	17	c.-35 others(28): Show c.-3540_-3539insATTTTTTTTTTTTTTTT	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		3155		chr5	TogoVar
TRIO_chr5_14138342_14515204	14140186	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01071.hp2 HG01256.hp2 others(36): Show HG00609.hp1 HG01071.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG01993.hp2 HG02055.hp2 HG02109.hp2 HG02165.hp1 HG02523.hp2 HG02630.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG03017.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG04199.hp2 NA18942.hp1 NA18942.hp2 NA18950.hp1 NA18950.hp2 NA18979.hp1 NA19060.hp1 NA19080.hp1 NA19084.hp2 NA21309.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0011 a0017	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0015 a0001c0019 a0001c0023 a0001c0033 a0001c0038 a0001c0040 a0001c0044 a0001c0049 a0001c0050 a0004c0026 a0004c0032 a0005c0018 a0011c0028 a0017c0030	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(22): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0003 a0001c0007t0001 a0001c0010t0001 a0001c0015t0001 a0001c0019t0001 a0001c0023t0001 a0001c0033t0001 a0001c0038t0002 a0001c0040t0003 a0001c0044t0001 a0001c0049t0001 a0001c0050t0001 a0004c0026t0001 a0004c0032t0001 a0005c0018t0004 a0011c0028t0006 a0017c0030t0001	a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0038 others(36): Show a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0142 a0001c0001t0009g0184 a0001c0002t0001g0016 a0001c0002t0001g0028 a0001c0003t0001g0036 a0001c0003t0001g0150 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0158 a0001c0003t0001g0164 a0001c0003t0002g0129 a0001c0003t0002g0159 a0001c0004t0001g0107 a0001c0004t0001g0111 a0001c0005t0002g0166 a0001c0006t0001g0156 a0001c0006t0003g0019 a0001c0006t0003g0021 a0001c0007t0001g0012 a0001c0010t0001g0149 a0001c0010t0001g0161 a0001c0015t0001g0181 a0001c0019t0001g0138 a0001c0019t0001g0139 a0001c0023t0001g0024 a0001c0033t0001g0162 a0001c0038t0002g0131 a0001c0040t0003g0018 a0001c0044t0001g0025 a0001c0049t0001g0114 a0001c0050t0001g0191 a0004c0026t0001g0193 a0004c0032t0001g0037 a0005c0018t0004g0194 a0011c0028t0006g0110 a0017c0030t0001g0039	39	71	0.5493	17	c.-35 others(28): Show c.-3540_-3539insTTTTTTTTTTTTTTTTT	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		3155		chr5	TogoVar
TRIO_chr5_14138342_14515204	14190077	A A	AGCTGGTT others(10): Show AGCTGGTTTGCACAGGAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0138 a0001c0019t0001g0139 a0001c0019t0001g0138 a0001c0019t0001g0139	2	196	0.0102	17	c.157 others(36): Show c.157+46196_157+46212dupGCTGGTTTGCACAGGAG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP11_chr14_91960991_92045059	91967135	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01978.hp2 HG02258.hp2 others(3): Show HG01109.hp1 HG01978.hp2 HG02258.hp2 HG02572.hp2 HG02723.hp2 HG02897.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0018 a0007c0008 others(1): Show a0001c0001 a0001c0018 a0007c0008 a0008c0009	a0001c0001t0026 a0001c0018t0062 a0007c0008t0030 others(1): Show a0001c0001t0026 a0001c0018t0062 a0007c0008t0030 a0008c0009t0056	a0001c0001t0026g0104 a0001c0001t0026g0113 a0001c0018t0062g0316 others(3): Show a0001c0001t0026g0104 a0001c0001t0026g0113 a0001c0018t0062g0316 a0007c0008t0030g0120 a0007c0008t0030g0122 a0008c0009t0056g0124	6	131	0.0458	17	c.25 others(28): Show c.2521_*2537dupAAAAAAAAAAAAAAAAA	TRIP11	ENSG00000100815.12	transcript	ENST00000267622.8	protein_coding	21/21	2537		chr14	TogoVar
TRIP11_chr14_91960991_92045059	92034424	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0030 a0007c0008t0030	a0007c0008t0030g0120 a0007c0008t0030g0120	1	220	0.0045	17	c.140 others(34): Show c.140-1172_140-1171insTTTTTTTTTTTTTTTTT	TRIP11	ENSG00000100815.12	transcript	ENST00000267622.8	protein_coding	1/20			chr14	TogoVar
TRIP11_chr14_91960991_92045059	92042946	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0098 a0001c0001t0005g0098	1	261	0.0038	17	c.-32 others(28): Show c.-3262_-3261insATATATATATATATTTT	TRIP11	ENSG00000100815.12	transcript	ENST00000267622.8	protein_coding		2888		chr14	TogoVar
TRIP12_chr2_229758837_229927009	229917380	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	38	0.0263	17	c.-50 others(34): Show c.-50+4483_-50+4499dupTTTTTTTTTTTTTTTTT	TRIP12	ENSG00000153827.15	transcript	ENST00000675903.1	protein_coding	1/41			chr2	TogoVar
TRMO_chr9_97899489_97927500	97923065	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	8	0.1250	17	c.-57 others(26): Show c.-573_-572insTTTTTTTTTTTTTTTTT	TRMO	ENSG00000136932.15	transcript	ENST00000375119.8	protein_coding		566		chr9	TogoVar
TRMT10B_chr9_37748805_37783972	37752194	A A	ACCCCCCC others(10): Show ACCCCCCCACCCCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	316	0.0032	17	c.-16 others(28): Show c.-1688_-1687insCCCCCCCACCCCCCCAC	TRMT10B	ENSG00000165275.10	transcript	ENST00000297994.4	protein_coding		1610		chr9	TogoVar
TRMT10B_chr9_37748805_37783972	37767513	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG01074.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0300 a0001c0001t0001g0235 a0001c0001t0001g0300	2	10	0.2000	17	c.421 others(32): Show c.421-557_421-541dupAAAAAAAAAAAAAAAAA	TRMT10B	ENSG00000165275.10	transcript	ENST00000297994.4	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
TRMT10C_chr3_101556868_101571446	101561334	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00735.hp2 others(13): Show HG00408.hp2 HG00597.hp1 HG00735.hp2 HG01106.hp2 HG01123.hp2 HG01361.hp2 HG02145.hp1 HG02738.hp1 HG03239.hp1 HG03471.hp2 HG03540.hp1 NA18983.hp2 NA18990.hp1 NA19002.hp1 NA19003.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0004 a0002c0002t0001g0014 a0002c0002t0001g0019 others(2): Show a0002c0002t0001g0004 a0002c0002t0001g0014 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0003g0004	16	38	0.4211	17	c.-68 others(26): Show c.-682_-681insTTTTTTTTTTTTTTTTT	TRMT10C	ENSG00000174173.7	transcript	ENST00000309922.7	protein_coding		533		chr3	TogoVar
TRMT9B_chr8_12940673_13034777	12959516	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18960.hp1 NA18957.hp1 NA18960.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0007 a0003c0009t0007	a0003c0009t0007g0135 a0003c0009t0007g0136 a0003c0009t0007g0135 a0003c0009t0007g0136	2	57	0.0351	17	c.-20 others(38): Show c.-200+13557_-200+13573dupTTTTTTTTTTTTTTTTT	TRMT9B	ENSG00000250305.9	transcript	ENST00000524591.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
TRMU_chr22_46330714_46362340	46360318	T T	TGGTGGAC others(10): Show TGGTGGACCTGCTGCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0053 a0001c0004t0001g0053	1	302	0.0033	17	c.33 others(28): Show c.3312_*3313insGGTGGACCTGCTGCTCG	TRMU	ENSG00000100416.15	transcript	ENST00000645190.1	protein_coding		2979		chr22	TogoVar
TRPC1_chr3_142719034_142812888	142761549	C C	CGGGGGGT others(10): Show CGGGGGGTTTTTTATGTT	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0064 a0001c0003t0004g0064	1	338	0.0030	17	c.632 others(36): Show c.632+13089_632+13090insGGGGGGTTTTTTATGTT	TRPC1	ENSG00000144935.17	transcript	ENST00000476941.6	protein_coding	4/12			chr3	TogoVar
TRPC1_chr3_142719034_142812888	142789319	C C	CTCCTTCC others(10): Show CTCCTTCCCCAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01515.hp1 HG01261.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0182 a0001c0001t0001g0191	2	338	0.0059	17	c.129 others(36): Show c.1298-1700_1298-1699insTCCTTCCCCAAAAAAAA	TRPC1	ENSG00000144935.17	transcript	ENST00000476941.6	protein_coding	7/12			chr3	TogoVar
TRPC4AP_chr20_34997404_35097807	34997514	G G	GGCGGAGC others(10): Show GGCGGAGCTGGGGGAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0242 a0001c0001t0003g0242	1	332	0.0030	17	c.56 others(28): Show c.5615_*5631dupTGCTCCCCCAGCTCCGC	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4889		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35068978	C C	CACACACA others(10): Show CACACACACACAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	192	0.0052	17	c.414 others(32): Show c.414+317_414+318insTTTTTTTGTGTGTGTGT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding	3/18			chr20	TogoVar
TRPC4_chr13_37627063_37874772	37753608	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0080 a0001c0001t0013g0080	1	284	0.0035	17	c.379 others(34): Show c.379-7154_379-7153insCTCTCTCTCTCTCTCTC	TRPC4	ENSG00000133107.15	transcript	ENST00000379705.8	protein_coding	2/10			chr13	TogoVar
TRPC4_chr13_37627063_37874772	37812180	A A	AAAAAAAA others(10): Show AAAAAAAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0061 a0001c0001t0023g0061	1	281	0.0036	17	c.-27 others(36): Show c.-27-28821_-27-28820insGTTTGTTTGTTTTTTTT	TRPC4	ENSG00000133107.15	transcript	ENST00000379705.8	protein_coding	1/10			chr13	TogoVar
TRPC4_chr13_37627063_37874772	37812184	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0005 a0001c0001t0011g0005	1	283	0.0035	17	c.-27 others(36): Show c.-27-28825_-27-28824insGTTTGTTTTTTTTTTTT	TRPC4	ENSG00000133107.15	transcript	ENST00000379705.8	protein_coding	1/10			chr13	TogoVar
TRPC5OS_chrX_111871181_111908990	111905914	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	209	0.0048	17	c.37 others(28): Show c.3729_*3730insAAAAAAAAAAAAAAAAA	TRPC5OS	ENSG00000204025.8	transcript	ENST00000635763.2	protein_coding		1925		chrX	TogoVar
TRPC5_chrX_111763011_112087776	112005463	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03516.hp2 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0019 a0001c0001t0014g0157 a0001c0001t0004g0019 a0001c0001t0014g0157	2	138	0.0145	17	c.-21 others(36): Show c.-21-53039_-21-53023dupTTTTTTTTTTTTTTTTT	TRPC5	ENSG00000072315.4	transcript	ENST00000262839.3	protein_coding	1/10			chrX	TogoVar
TRPC5_chrX_111763011_112087776	112008599	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0020 a0001c0001t0023g0020	1	121	0.0083	17	c.-21 others(36): Show c.-21-56159_-21-56158insTTTTTTTTTTTTTTTTT	TRPC5	ENSG00000072315.4	transcript	ENST00000262839.3	protein_coding	1/10			chrX	TogoVar
TRPC6_chr11_101446564_101589007	101548263	A A	ATATATAT others(10): Show ATATATATATATATAATT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp2 HG03471.hp2 others(1): Show HG02109.hp2 HG03130.hp2 HG03471.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0007t0002 a0001c0003t0001 a0001c0007t0002	a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0125 others(1): Show a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0007t0002g0126	4	247	0.0162	17	c.170 others(36): Show c.170+35070_170+35071insAATTATATATATATATA	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TRPC6_chr11_101446564_101589007	101548273	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19066.hp2 NA18962.hp1 NA19066.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0148 a0002c0004t0002g0150 a0002c0004t0002g0148 a0002c0004t0002g0150	2	231	0.0087	17	c.170 others(36): Show c.170+35060_170+35061insATATATATATATATATA	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TRPM2_chr21_44348621_44447644	44398206	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0003 a0003c0007t0003g0003	1	17	0.0588	17	c.206 others(34): Show c.2062+342_2062+343insTTTTTTTTTTTTTTTTT	TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr21	TogoVar
TRPM3_chr9_70524060_71126621	70629215	C C	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0210 a0001c0001t0067g0210	1	7	0.1429	17	c.163 others(36): Show c.1633-3699_1633-3698insCCCCCCCCCCCCCCCCC	TRPM3	ENSG00000083067.26	transcript	ENST00000677713.2	protein_coding	12/25			chr9	TogoVar
TRPM3_chr9_70524060_71126621	70786311	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0061 a0002c0003t0003g0061	1	59	0.0169	17	c.974 others(34): Show c.974-2049_974-2033dupTTTTTTTTTTTTTTTTT	TRPM3	ENSG00000083067.26	transcript	ENST00000677713.2	protein_coding	6/25			chr9	TogoVar

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