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
UNC13B_chr9_35157009_35410335	35157648	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03225.hp1 HG03471.hp2 others(4): Show HG02622.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 NA20300.hp2	a0001 a0002 a0026 a0001 a0002 a0026	a0001c0001 a0002c0003 a0002c0011 others(1): Show a0001c0001 a0002c0003 a0002c0011 a0026c0047	a0001c0001t0001 a0002c0003t0001 a0002c0011t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0011t0001 a0026c0047t0001	a0001c0001t0001g0012 a0001c0001t0001g0162 a0002c0003t0001g0206 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0162 a0002c0003t0001g0206 a0002c0003t0001g0207 a0002c0011t0001g0175 a0002c0011t0001g0177 a0026c0047t0001g0164	7	13	0.5385	23	c.-46 others(34): Show c.-4636_-4635insTTTTTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding		4360		chr9	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19002.hp2 HG00621.hp2 NA19002.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0036 a0002c0010t0001g0099 a0002c0010t0001g0036 a0002c0010t0001g0099	2	29	0.0690	23	c.152 others(38): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35257308	A A	ATATAAAT others(16): Show ATATAAATATTTATAAAAATATTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA21309.hp2 HG02080.hp1 NA21309.hp2	a0008 a0019 a0008 a0019	a0008c0012 a0019c0044 a0008c0012 a0019c0044	a0008c0012t0001 a0019c0044t0001 a0008c0012t0001 a0019c0044t0001	a0008c0012t0001g0070 a0019c0044t0001g0150 a0008c0012t0001g0070 a0019c0044t0001g0150	2	219	0.0091	23	c.469 others(40): Show c.469-1685_469-1684insTATAAATATTTATAAAAATATTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	6/39			chr9	TogoVar
UNC13B_chr9_35157009_35410335	35297561	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTGTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01255.hp1 HG02738.hp1 HG01175.hp2 HG01255.hp1 HG02738.hp1	a0002 a0018 a0002 a0018	a0002c0004 a0018c0030 a0002c0004 a0018c0030	a0002c0004t0001 a0018c0030t0001 a0002c0004t0001 a0018c0030t0001	a0002c0004t0001g0034 a0002c0004t0001g0212 a0018c0030t0001g0072 a0002c0004t0001g0034 a0002c0004t0001g0212 a0018c0030t0001g0072	3	168	0.0179	23	c.761 others(40): Show c.761+1637_761+1638insTTTTTTTTGTTTTTTTGTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	8/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	AAAAATTT others(16): Show AAAAATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0082	1	19	0.0526	23	c.298 others(44): Show c.2983+22238_2983+22239insAAAATTTTTTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32			chr15	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	ATAAAAAT others(16): Show ATAAAAATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA20129.hp1 HG01243.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0141 a0001c0002t0001g0040 a0001c0001t0002g0141 a0001c0002t0001g0040	2	20	0.1000	23	c.298 others(44): Show c.2983+22239_2983+22240insAAAAATTTTTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	ATATAAAT others(16): Show ATATAAATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0158 a0001c0001t0037g0158	1	19	0.0526	23	c.298 others(44): Show c.2983+22239_2983+22240insATAAATTTTTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54138953	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0081 a0001c0002t0008g0081	1	6	0.1667	23	c.298 others(42): Show c.2984-4062_2984-4040dupTTTTTTTTTTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54408199	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0089 a0001c0001t0036g0089	1	36	0.0278	23	c.484 others(42): Show c.4848-6775_4848-6753dupAAAAAAAAAAAAAAAAAAAAAAA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	18/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC45B_chr17_35142817_35194343	35166086	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG01099.hp1 others(9): Show HG00280.hp2 HG00639.hp1 HG01099.hp1 HG01891.hp2 HG02723.hp1 HG02735.hp2 HG02976.hp1 HG03098.hp1 HG03486.hp2 NA19000.hp2 NA19060.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0021 a0005c0007 a0001c0001 a0001c0021 a0005c0007	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0021t0005 a0005c0007t0005	a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0005g0039 others(8): Show a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0005g0039 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0202 a0001c0001t0006g0044 a0001c0001t0011g0242 a0001c0021t0005g0044 a0005c0007t0005g0253 a0005c0007t0005g0254	12	20	0.6000	23	c.115 others(42): Show c.1151+1923_1151+1945dupAAAAAAAAAAAAAAAAAAAAAAA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC5C_chr4_95157504_95553973	95354479	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0078 a0001c0003t0013g0078	1	146	0.0068	23	c.125 others(42): Show c.125-18849_125-18848insAAAAATATATATATATATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95354480	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0042 a0001c0009t0004g0042	1	193	0.0052	23	c.125 others(42): Show c.125-18850_125-18849insTATATATATATATATATATATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35230512	C C	CACACACA others(16): Show CACACACACACACACACAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	21	0.0476	23	c.-52 others(34): Show c.-5273_-5272insACACACACACACACACAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4962		chr8	TogoVar
UNC5D_chr8_35230475_35801540	35230512	C C	CACACACA others(16): Show CACACACACACACACACACAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	21	0.0476	23	c.-52 others(34): Show c.-5273_-5272insACACACACACACACACACAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4962		chr8	TogoVar
UNC5D_chr8_35230475_35801540	35230512	C C	CACACACA others(16): Show CACACACACACACACACACACAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0011 a0001c0001t0019g0011	1	21	0.0476	23	c.-52 others(34): Show c.-5273_-5272insACACACACACACACACACACAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4962		chr8	TogoVar
UNC5D_chr8_35230475_35801540	35749989	T T	TTTGTAAA others(16): Show TTTGTAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19240.hp2 HG02922.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0014 a0001c0003t0003 a0001c0003t0014	a0001c0003t0003g0008 a0001c0003t0014g0040 a0001c0003t0003g0008 a0001c0003t0014g0040	2	25	0.0800	23	c.193 others(40): Show c.1936-593_1936-592insTTGTAAAAAAAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	12/16			chr8	TogoVar
UNC79_chr14_93425939_93712876	93695890	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18988.hp2 HG02109.hp1 NA18988.hp2	a0002 a0003 a0002 a0003	a0002c0008 a0003c0004 a0002c0008 a0003c0004	a0002c0008t0001 a0003c0004t0001 a0002c0008t0001 a0003c0004t0001	a0002c0008t0001g0095 a0003c0004t0001g0126 a0002c0008t0001g0095 a0003c0004t0001g0126	2	62	0.0323	23	c.788 others(42): Show c.7881+1498_7881+1499insAAAAAAAAAAAAAAAAAAAAAAA	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	50/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNK_chr17_75779806_75830799	75782239	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA20300.hp1 NA18981.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0002 a0001c0006t0005 a0001c0003t0002 a0001c0006t0005	a0001c0003t0002g0119 a0001c0006t0005g0112 a0001c0003t0002g0119 a0001c0006t0005g0112	2	105	0.0190	23	c.-26 others(34): Show c.-2642_-2641insTTTTTTTTTTTTTTTTTTTTTTT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		2566		chr17	TogoVar
UNK_chr17_75779806_75830799	75784188	T T	TGGCAAAG others(16): Show TGGCAAAGGTAAATGAAGCGCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0233	1	352	0.0028	23	c.-69 others(32): Show c.-693_-692insGGCAAAGGTAAATGAAGCGCCTC	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		617		chr17	TogoVar
UPF2_chr10_11915022_12047809	11991956	G G	GCCAACAT others(16): Show GCCAACATGATGAAACCCTGTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01192.hp1 HG02970.hp2 others(3): Show HG00140.hp2 HG01192.hp1 HG02970.hp2 HG03139.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0007 a0001c0006t0008 a0001c0006t0013 a0001c0004t0007 a0001c0006t0008 a0001c0006t0013	a0001c0004t0007g0114 a0001c0004t0007g0115 a0001c0004t0007g0116 others(3): Show a0001c0004t0007g0114 a0001c0004t0007g0115 a0001c0004t0007g0116 a0001c0004t0007g0117 a0001c0006t0008g0330 a0001c0006t0013g0331	6	332	0.0181	23	c.184 others(42): Show c.1844+5693_1844+5715dupGAGACAGGGTTTCATCATGTTGG	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	8/21			chr10	TogoVar
UPK1B_chr3_119168598_119210143	119179507	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0312 a0001c0001t0010g0312	1	112	0.0089	23	c.-29 others(40): Show c.-29+5889_-29+5890insTTTTTTTTTTTTTTTTTTTTTTT	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
UPK3A_chr22_45279949_45300874	45282183	T T	TAGAAGAA others(16): Show TAGAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0022	1	234	0.0043	23	c.-28 others(34): Show c.-2831_-2830insAGAAGAAAGAAAGAAAGAAAGAA	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding		2765		chr22	TogoVar
UPK3BL1_chr7_102632025_102647791	102643232	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0089 a0001c0001t0008g0089	1	67	0.0149	23	c.-49 others(32): Show c.-492_-491insTTTTTTTTTTTTTTTTTTTTTTT	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		442		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547866	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	180	0.0056	23	c.-42 others(34): Show c.-4231_-4230insCTTTCTTTCTTTCTTTCTTTCTT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4171		chr7	TogoVar
UQCC1_chr20_35297578_35416973	35338888	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp1 HG02258.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0046 a0002c0002t0003g0048 a0002c0002t0003g0046 a0002c0002t0003g0048	2	174	0.0115	23	c.573 others(40): Show c.573+8275_573+8276insATATATATATATATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338890	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02129.hp2 HG03239.hp1 others(4): Show HG01891.hp1 HG02129.hp2 HG03239.hp1 HG04115.hp1 NA18941.hp2 NA18978.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0191 others(4): Show a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0213 a0002c0002t0004g0040	7	109	0.0642	23	c.573 others(40): Show c.573+8273_573+8274insATATATATATATATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	25	0.0400	23	c.573 others(40): Show c.573+8271_573+8272insATATATATATATATATATTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18967.hp2 HG02145.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0170 a0001c0001t0001g0176	2	26	0.0769	23	c.573 others(40): Show c.573+8271_573+8272insATATATATATATATATATATATT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03654.hp2 HG03942.hp1 HG00597.hp1 HG03654.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0174 a0001c0001t0001g0229 a0001c0001t0001g0144 a0001c0001t0001g0174 a0001c0001t0001g0229	3	27	0.1111	23	c.573 others(40): Show c.573+8271_573+8272insATATATATATATATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35410704	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG01081.hp2 others(10): Show HG00639.hp2 HG01071.hp2 HG01081.hp2 HG01257.hp2 HG02630.hp2 HG02809.hp2 NA18947.hp2 NA18953.hp1 NA18974.hp2 NA18980.hp1 NA19064.hp2 NA19087.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 a0001c0001t0001 a0002c0002t0001 a0002c0002t0006	a0001c0001t0001g0142 a0001c0001t0001g0195 a0001c0001t0001g0236 others(10): Show a0001c0001t0001g0142 a0001c0001t0001g0195 a0001c0001t0001g0236 a0001c0001t0001g0237 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0101 a0002c0002t0006g0084	13	69	0.1884	23	c.24+ others(38): Show c.24+1235_24+1236insTTTTTTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35412617	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG02886.hp2 HG01891.hp1 HG02615.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0031 a0002c0002t0004g0039 a0002c0002t0004g0040 a0002c0002t0004g0031 a0002c0002t0004g0039 a0002c0002t0004g0040	3	67	0.0448	23	c.-65 others(32): Show c.-655_-654insTTTTTTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding		645		chr20	TogoVar
UQCC1_chr20_35297578_35416973	35415259	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0146 a0001c0007t0001g0146	1	6	0.1667	23	c.-32 others(34): Show c.-3297_-3296insAAAAAAAAAAAAAAAAAAAAAAA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding		3287		chr20	TogoVar
UQCC5_chr3_52531605_52546890	52542619	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01993.hp1 HG02486.hp2 others(4): Show HG00735.hp1 HG01993.hp1 HG02486.hp2 HG04184.hp2 NA19010.hp2 NA19056.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	7	12	0.5833	23	c.21 others(34): Show c.2134_*2135insAAAAAAAAAAAAAAAAAAAAAAA	UQCC5	ENSG00000168273.8	transcript	ENST00000477703.6	protein_coding		730		chr3	TogoVar
URB1_chr21_32306018_32398012	32361159	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0025 a0025	a0025c0041 a0025c0041	a0025c0041t0039 a0025c0041t0039	a0025c0041t0039g0107 a0025c0041t0039g0107	1	18	0.0556	23	c.164 others(38): Show c.1640-37_1640-36insCTTTCTTTCTTTCTTTCTTTCTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38			chr21	TogoVar
USO1_chr4_75719577_75819286	75759246	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0169 a0001c0009t0007g0169	1	29	0.0345	23	c.295 others(40): Show c.295+1691_295+1692insTTTTTTTTTTTTTTTTTTTTTTT	USO1	ENSG00000138768.15	transcript	ENST00000514213.7	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP10_chr16_84695000_84784922	84702993	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0338 a0001c0006t0001g0338	1	187	0.0053	23	c.21+ others(38): Show c.21+2902_21+2903insAAAAAAAAAAAAAAAAAAAAAAA	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
USP13_chr3_179648040_179794401	179728930	C C	CAGAGGGA others(16): Show CAGAGGGAGACCGTGGAGAGAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp1 HG02027.hp1 others(9): Show HG00140.hp2 HG01099.hp1 HG02027.hp1 HG02129.hp1 HG02523.hp1 HG02683.hp2 HG02698.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA19000.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0002 a0001c0001t0037 a0001c0004t0002 others(4): Show a0001c0001t0002 a0001c0001t0037 a0001c0004t0002 a0001c0004t0006 a0001c0004t0012 a0001c0006t0001 a0001c0006t0002	a0001c0001t0002g0003 a0001c0001t0002g0117 a0001c0001t0002g0213 others(9): Show a0001c0001t0002g0003 a0001c0001t0002g0117 a0001c0001t0002g0213 a0001c0001t0002g0256 a0001c0001t0037g0029 a0001c0004t0002g0182 a0001c0004t0002g0267 a0001c0004t0006g0107 a0001c0004t0006g0226 a0001c0004t0012g0062 a0001c0006t0001g0153 a0001c0006t0002g0138	12	297	0.0404	23	c.108 others(42): Show c.1089-1243_1089-1221dupAGAGAGGGAGAGGGAGACCGTGG	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP13_chr3_179648040_179794401	179774527	G G	GTTCCTCC others(16): Show GTTCCTCCTGTCCAGAGTTGCTCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp2 HG02965.hp1 others(2): Show HG01109.hp1 HG02572.hp2 HG02965.hp1 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0006 a0001c0002t0006 a0001c0006t0006 a0001c0001t0006 a0001c0002t0006 a0001c0006t0006	a0001c0001t0006g0240 a0001c0001t0006g0288 a0001c0001t0006g0297 others(2): Show a0001c0001t0006g0240 a0001c0001t0006g0288 a0001c0001t0006g0297 a0001c0002t0006g0169 a0001c0006t0006g0181	5	298	0.0168	23	c.241 others(42): Show c.2414-7200_2414-7199insAGAGTTGCTCATTCCTCCTGTCC	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP14_chr18_153557_219629	171023	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19084.hp2 NA19081.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0108 a0001c0001t0001g0009 a0001c0001t0001g0108	2	272	0.0074	23	c.195 others(40): Show c.195+4204_195+4205insTATATATATATATATATATATAT	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15			chr18	TogoVar
USP14_chr18_153557_219629	171025	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02723.hp2 HG01167.hp1 HG01169.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0047 a0001c0001t0003 a0001c0001t0047	a0001c0001t0003g0040 a0001c0001t0047g0137 a0001c0001t0003g0040 a0001c0001t0047g0137	3	171	0.0175	23	c.195 others(40): Show c.195+4207_195+4208insATATATATATATATATATATATA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
USP14_chr18_153557_219629	171025	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0016 a0001c0001t0030g0016	1	169	0.0059	23	c.195 others(40): Show c.195+4206_195+4207insTATATATATATATATATATATAT	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15			chr18	TogoVar
USP15_chr12_62255404_62421389	62257166	G G	GTGTGTAT others(16): Show GTGTGTATATGTATATATACACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00544.hp2 others(90): Show HG00099.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01257.hp1 HG01358.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02622.hp2 HG02683.hp2 HG02735.hp1 HG02970.hp1 HG03017.hp1 HG03130.hp2 HG03540.hp2 HG03688.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18968.hp1 NA18971.hp2 NA18972.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19058.hp2 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(13): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0028 a0001c0003t0002 a0001c0003t0013 a0001c0003t0014 a0001c0003t0041 a0001c0003t0045 a0001c0003t0046 a0001c0003t0055 a0001c0004t0007 a0001c0004t0057 a0001c0004t0058	a0001c0001t0003g0222 a0001c0001t0003g0243 a0001c0001t0004g0009 others(85): Show a0001c0001t0003g0222 a0001c0001t0003g0243 a0001c0001t0004g0009 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0130 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0285 a0001c0001t0008g0292 a0001c0001t0009g0120 a0001c0001t0009g0134 a0001c0001t0012g0289 a0001c0001t0012g0290 a0001c0001t0012g0291 a0001c0001t0028g0111 a0001c0003t0002g0002 a0001c0003t0002g0012 a0001c0003t0002g0017 a0001c0003t0002g0110 a0001c0003t0002g0112 a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0150 a0001c0003t0002g0151 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0165 a0001c0003t0002g0167 a0001c0003t0002g0168 a0001c0003t0002g0170 a0001c0003t0002g0173 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0184 a0001c0003t0002g0186 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0192 a0001c0003t0002g0198 a0001c0003t0002g0200 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0205 a0001c0003t0002g0206 a0001c0003t0002g0280 a0001c0003t0002g0282 a0001c0003t0002g0286 a0001c0003t0002g0287 a0001c0003t0013g0152 a0001c0003t0013g0183 a0001c0003t0013g0199 a0001c0003t0014g0171 a0001c0003t0014g0172 a0001c0003t0041g0185 a0001c0003t0045g0002 a0001c0003t0046g0278 a0001c0003t0055g0145 a0001c0004t0007g0007 a0001c0004t0007g0099 a0001c0004t0007g0100 a0001c0004t0007g0101 a0001c0004t0007g0102 a0001c0004t0007g0103 a0001c0004t0007g0104 a0001c0004t0007g0105 a0001c0004t0057g0106 a0001c0004t0058g0097	93	346	0.2688	23	c.-32 others(34): Show c.-3249_-3248insTGTGTATATGTATATATACACAA	USP15	ENSG00000135655.16	transcript	ENST00000280377.10	protein_coding		3237		chr12	TogoVar
USP18_chr22_18145170_18182397	18161642	G G	GCCCCGCA others(16): Show GCCCCGCACCCCCGCGCCCCGCAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03130.hp2 HG02486.hp1 HG03130.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0009 a0001c0003 a0004c0009	a0001c0003t0009 a0004c0009t0009 a0001c0003t0009 a0004c0009t0009	a0001c0003t0009g0260 a0004c0009t0009g0077 a0001c0003t0009g0260 a0004c0009t0009g0077	2	374	0.0053	23	c.255 others(38): Show c.255-142_255-141insACCCCCGCGCCCCGCACCCCCGC	USP18	ENSG00000184979.11	transcript	ENST00000215794.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
USP20_chr9_129830458_129886828	129846247	A A	ATATATAT others(16): Show ATATATATATATGTATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0006 a0010c0018t0006	a0010c0018t0006g0261 a0010c0018t0006g0261	1	104	0.0096	23	c.-12 others(42): Show c.-128-3565_-128-3564insATATATATATGTATTTTTTTTTT	USP20	ENSG00000136878.14	transcript	ENST00000372429.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
USP20_chr9_129830458_129886828	129846247	A A	ATATATAT others(16): Show ATATATATATGTATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0006 a0003c0008t0006	a0003c0008t0006g0264 a0003c0008t0006g0264	1	104	0.0096	23	c.-12 others(42): Show c.-128-3565_-128-3564insATATATATGTATTTTTTTTTTTT	USP20	ENSG00000136878.14	transcript	ENST00000372429.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
USP22_chr17_20994596_21048011	21027292	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18984.hp2 HG00609.hp2 NA18984.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0005 a0001c0003t0004 a0001c0003t0005	a0001c0003t0004g0181 a0001c0003t0005g0066 a0001c0003t0004g0181 a0001c0003t0005g0066	2	110	0.0182	23	c.304 others(40): Show c.304+1249_304+1250insTTTTTTTTTTTTTTTTTTTTTTT	USP22	ENSG00000124422.12	transcript	ENST00000261497.9	protein_coding	2/12			chr17	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA19088.hp1 NA18992.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0070 a0001c0002t0008g0081 a0001c0002t0008g0070 a0001c0002t0008g0081	2	44	0.0455	23	c.-77 others(42): Show c.-77+25840_-77+25841insAAATATATATATATATATATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP32_chr17_60172327_60397133	60175189	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	42	0.0238	23	c.40 others(34): Show c.4065_*4066insAAAAAAAAAAAAAAAAAAAAAAA	USP32	ENSG00000170832.13	transcript	ENST00000300896.9	protein_coding		2137		chr17	TogoVar
USP34_chr2_61182463_61476087	61196069	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0009 a0001c0009t0009	a0001c0009t0009g0075 a0001c0009t0009g0075	1	52	0.0192	23	c.950 others(42): Show c.9509-3112_9509-3090dupAAAAAAAAAAAAAAAAAAAAAAA	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	75/79			chr2	TogoVar
USP37_chr2_218445251_218573351	218557930	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18957.hp2 NA18973.hp2 others(1): Show HG01943.hp1 NA18957.hp2 NA18973.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0238 a0001c0001t0001g0239 others(1): Show a0001c0001t0001g0202 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240	4	6	0.6667	23	c.156 others(38): Show c.156+567_156+568insTTTTTTTTTTTTTTTTTTTTTTT	USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	4/25			chr2	TogoVar

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