Joint Open Genome and Omics Platform (JoGo)

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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
UNC5D_chr8_35230475_35801540	35512569	A A	ATATATAT others(11): Show ATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0046 a0001c0004t0003g0046	1	2	0.5000	18	c.104 others(37): Show c.104-36722_104-36721insATATATATATATATATCT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35620642	G G	GGACCATT others(11): Show GGACCATTTTAAGTGCTGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	64	0.0156	18	c.570 others(37): Show c.570+24993_570+25010dupTTAAGTGCTGAGACCATT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35657080	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	37	0.0270	18	c.571 others(37): Show c.571-26466_571-26465insGTGTGTATATATATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35728095	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	30	0.0333	18	c.168 others(37): Show c.1681+1567_1681+1568insAAAAAAAAAATATATATA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35749989	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	24	0.0417	18	c.193 others(35): Show c.1936-581_1936-580insAAAAAAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35749989	T T	TTTGTAAA others(11): Show TTTGTAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp2 HG02257.hp1 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0017 a0002c0005t0018 a0002c0005t0017 a0002c0005t0018	a0002c0005t0017g0030 a0002c0005t0018g0054 a0002c0005t0017g0030 a0002c0005t0018g0054	2	25	0.0800	18	c.193 others(35): Show c.1936-593_1936-592insTTGTAAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	12/16			chr8	TogoVar
UNC5D_chr8_35230475_35801540	35755478	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	43	0.0233	18	c.216 others(37): Show c.2164-3840_2164-3823dupGTGTGTGTGTGTGTGTGT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93660520	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	70	0.0143	18	c.685 others(37): Show c.6858+1286_6858+1303dupATATATATATATATATAT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93660563	A A	ATATATAT others(11): Show ATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02896.hp2 HG02897.hp2 HG00639.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0002t0001g0166 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0002t0001g0166	3	119	0.0252	18	c.685 others(37): Show c.6858+1303_6858+1304insATATATATATATGTGTGT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93695890	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19087.hp2 NA20805.hp1 HG00558.hp1 NA19087.hp2 NA20805.hp1	a0002 a0003 a0002 a0003	a0002c0008 a0002c0017 a0003c0004 a0002c0008 a0002c0017 a0003c0004	a0002c0008t0001 a0002c0017t0001 a0003c0004t0001 a0002c0008t0001 a0002c0017t0001 a0003c0004t0001	a0002c0008t0001g0140 a0002c0017t0001g0177 a0003c0004t0001g0100 a0002c0008t0001g0140 a0002c0017t0001g0177 a0003c0004t0001g0100	3	63	0.0476	18	c.788 others(37): Show c.7881+1481_7881+1498dupAAAAAAAAAAAAAAAAAA	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	50/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209866488	C C	CCACACAC others(11): Show CCACACACACAAACACACA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0001 a0002c0055t0001	a0002c0055t0001g0009 a0002c0055t0001g0009	1	155	0.0065	18	c.362 others(37): Show c.3628-6269_3628-6268insACACACACAAACACACAC	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	22/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209866527	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0051 a0001c0002t0010g0051	1	154	0.0065	18	c.362 others(37): Show c.3628-6224_3628-6223insCACACACACATACACACA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	22/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC93A_chr6_167286315_167321014	167292980	T T	TGGACTTG others(11): Show TGGACTTGGAAGCTTGGAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0344 a0003c0003t0006g0344	1	446	0.0022	18	c.87+ others(33): Show c.87+1405_87+1406insGACTTGGAAGCTTGGAAG	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167293830	C C	CATTCAGC others(11): Show CATTCAGCTCTCAACTTGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0005 a0015c0018t0005	a0015c0018t0005g0070 a0015c0018t0005g0070	1	446	0.0022	18	c.88- others(31): Show c.88-685_88-668dupTTCAGCTCTCAACTTGGA	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295379	G G	GGCCTCCC others(11): Show GGCCTCCCTCGTGCTCCTC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0221 a0002c0002t0004g0221	1	439	0.0023	18	c.270 others(33): Show c.270-622_270-605dupCTCCTCGCCTCCCTCGTG	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295434	G G	GGCCTCCC others(11): Show GGCCTCCCTCGTGATCCTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0007 a0003c0009t0007	a0003c0009t0007g0089 a0003c0009t0007g0089	1	423	0.0024	18	c.270 others(33): Show c.270-586_270-585insATCCTCGCCTCCCTCGTG	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295529	G G	GCCTCGTG others(11): Show GCCTCGTGCTCCTCGCCTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03139.hp1 HG03130.hp1 HG03139.hp1	a0003 a0009 a0003 a0009	a0003c0020 a0009c0012 a0003c0020 a0009c0012	a0003c0020t0007 a0009c0012t0003 a0003c0020t0007 a0009c0012t0003	a0003c0020t0007g0025 a0009c0012t0003g0324 a0003c0020t0007g0025 a0009c0012t0003g0324	2	318	0.0063	18	c.270 others(33): Show c.270-477_270-460dupCTCCTCGCCTCCCTCGTG	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295645	C C	CTCCTCGC others(11): Show CTCCTCGCCTCCCTCGTGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp1 HG01074.hp2 others(22): Show HG00733.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG02004.hp1 HG02257.hp1 HG02602.hp2 HG02683.hp2 HG02738.hp2 HG03688.hp2 HG03704.hp1 HG04199.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0002c0043 others(3): Show a0001c0001 a0002c0002 a0002c0043 a0003c0003 a0003c0009 a0010c0014	a0001c0001t0001 a0002c0002t0004 a0002c0043t0004 others(3): Show a0001c0001t0001 a0002c0002t0004 a0002c0043t0004 a0003c0003t0003 a0003c0009t0001 a0010c0014t0001	a0001c0001t0001g0035 a0001c0001t0001g0148 a0002c0002t0004g0003 others(12): Show a0001c0001t0001g0035 a0001c0001t0001g0148 a0002c0002t0004g0003 a0002c0002t0004g0149 a0002c0002t0004g0150 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0043t0004g0154 a0003c0003t0003g0033 a0003c0003t0003g0044 a0003c0003t0003g0059 a0003c0003t0003g0153 a0003c0009t0001g0151 a0010c0014t0001g0034 a0010c0014t0001g0152	25	356	0.0702	18	c.270 others(33): Show c.270-377_270-360dupCCCTCGTGATCCTCGCCT	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295673	G G	GCCTCGTG others(11): Show GCCTCGTGCTCCTCGCCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG03453.hp2 HG02145.hp1 HG02486.hp2 HG03453.hp2	a0001 a0003 a0023 a0001 a0003 a0023	a0001c0001 a0003c0003 a0023c0037 a0001c0001 a0003c0003 a0023c0037	a0001c0001t0001 a0003c0003t0006 a0023c0037t0006 a0001c0001t0001 a0003c0003t0006 a0023c0037t0006	a0001c0001t0001g0093 a0003c0003t0006g0095 a0023c0037t0006g0094 a0001c0001t0001g0093 a0003c0003t0006g0095 a0023c0037t0006g0094	3	432	0.0069	18	c.270 others(33): Show c.270-342_270-341insCCCTCGTGCTCCTCGCCT	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93B1_chr11_67986100_68009097	67987276	T T	TAAAATAA others(11): Show TAAAATAAAATAAAATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	195	0.0051	18	c.42 others(29): Show c.4269_*4270insTTTATTTTATTTTATTTT	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3823		chr11	TogoVar
UNC93B1_chr11_67986100_68009097	68002185	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0179 a0001c0002t0002g0179	1	21	0.0476	18	c.392 others(33): Show c.392+819_392+836dupGTGTGTGTGTGTGTGTGT	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding	3/10			chr11	TogoVar
UNKL_chr16_1358205_1419704	1380673	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp2 HG02622.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0059 a0001c0001t0017 a0001c0001t0059	a0001c0001t0017g0298 a0001c0001t0059g0296 a0001c0001t0017g0298 a0001c0001t0059g0296	2	16	0.1250	18	c.126 others(37): Show c.1264+4517_1264+4534dupAAAAAAAAAAAAAAAAAA	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14			chr16	TogoVar
UNK_chr17_75779806_75830799	75782239	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG02015.hp2 others(24): Show HG00621.hp2 HG00673.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02129.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG03831.hp1 HG03927.hp2 NA18945.hp2 NA18950.hp2 NA18953.hp2 NA18973.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18997.hp1 NA19004.hp2 NA19055.hp2 NA19062.hp2 NA19068.hp2 NA19081.hp1 NA19089.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0016	a0001c0001t0013 a0001c0003t0002 a0001c0004t0001 others(3): Show a0001c0001t0013 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0001c0007t0002 a0002c0016t0016	a0001c0001t0013g0093 a0001c0003t0002g0004 a0001c0003t0002g0010 others(23): Show a0001c0001t0013g0093 a0001c0003t0002g0004 a0001c0003t0002g0010 a0001c0003t0002g0012 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0083 a0001c0003t0002g0096 a0001c0003t0002g0097 a0001c0003t0002g0098 a0001c0003t0002g0101 a0001c0003t0002g0104 a0001c0003t0002g0107 a0001c0003t0002g0223 a0001c0003t0002g0243 a0001c0003t0002g0246 a0001c0003t0002g0254 a0001c0003t0002g0264 a0001c0004t0001g0034 a0001c0005t0001g0105 a0001c0005t0001g0247 a0001c0005t0001g0252 a0001c0007t0002g0225 a0001c0007t0002g0227 a0001c0007t0002g0228 a0002c0016t0016g0099	27	130	0.2077	18	c.-26 others(29): Show c.-2642_-2641insTTTTTTTTTTTTTTTTTT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		2566		chr17	TogoVar
UNK_chr17_75779806_75830799	75805810	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0180 a0001c0003t0004g0180	1	96	0.0104	18	c.105 others(35): Show c.105-3932_105-3915dupGTGTGTGTGTGTGTGTGT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
UPF1_chr19_18826959_18873230	18829271	C C	CATATATA others(11): Show CATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0161 a0001c0005t0004g0161	1	86	0.0116	18	c.-29 others(29): Show c.-2939_-2938insATATATATATATATATAT	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2687		chr19	TogoVar
UPF1_chr19_18826959_18873230	18829612	T T	TATATGTA others(11): Show TATATGTATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG03453.hp1 NA18984.hp2 others(2): Show HG02040.hp1 HG03453.hp1 NA18984.hp2 NA19009.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0213 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0213 a0001c0001t0001g0228 a0001c0001t0013g0208	5	392	0.0128	18	c.-25 others(29): Show c.-2598_-2597insATATGTATATATATATAC	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2346		chr19	TogoVar
UPF2_chr10_11915022_12047809	11938842	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0267 a0001c0002t0001g0267	1	311	0.0032	18	c.337 others(37): Show c.3379-2131_3379-2130insAAAAAAAAAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11994975	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	113	0.0088	18	c.184 others(37): Show c.1844+2679_1844+2696dupTTTTTTTTTTTTTTTTTT	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	8/21			chr10	TogoVar
UPF3A_chr13_114276601_114310817	114281895	T T	TGAGGGGA others(11): Show TGAGGGGAGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	442	0.0023	18	c.207 others(31): Show c.207+52_207+53insGGGAGGGAGGGGAGGGAG	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114281899	T T	TGGAGGGA others(11): Show TGGAGGGAGGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00558.hp1 others(80): Show HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG01074.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01981.hp2 HG02040.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02559.hp1 HG02698.hp1 HG02970.hp2 HG03098.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0008	a0001c0001t0001 a0001c0001t0013 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0013 a0002c0002t0001 a0003c0003t0001 a0004c0004t0003 a0006c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(68): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0013g0115 a0002c0002t0001g0022 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0122 a0002c0002t0001g0125 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0003c0003t0001g0117 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0004c0004t0003g0116 a0006c0008t0001g0133 a0006c0008t0001g0134	83	274	0.3029	18	c.207 others(31): Show c.207+65_207+82dupAGGGAGGGGAGGGAGGGG	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3B_chrX_119829022_119857963	119851748	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG03139.hp1 others(5): Show HG02622.hp2 HG02630.hp1 HG03139.hp1 HG03540.hp2 HG06807.hp2 NA19030.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0050 a0001c0001t0001g0051 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0002g0021 a0001c0001t0002g0049	8	10	0.8000	18	c.263 others(31): Show c.263+18_263+19insAAAAAAAAAAAAAAAAAA	UPF3B	ENSG00000125351.14	transcript	ENST00000276201.7	protein_coding	2/10			chrX	TogoVar
UPK1B_chr3_119168598_119210143	119179352	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	206	0.0049	18	c.-29 others(35): Show c.-29+5743_-29+5760dupATATATATATATATATAT	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
UPK3A_chr22_45279949_45300874	45296037	T T	TAGTGCCA others(11): Show TAGTGCCAGGGGACTCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0001 a0010c0026t0001	a0010c0026t0001g0193 a0010c0026t0001g0193	1	442	0.0023	18	c.31 others(27): Show c.318_*319insAGTGCCAGGGGACTCAGG	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding		164		chr22	TogoVar
UPK3BL2_chr7_102532919_102548696	102538828	A A	AGCCCAGT others(11): Show AGCCCAGTTCCTCAGCTAG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03209.hp1 HG02897.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	180	0.0111	18	c.684 others(33): Show c.684-321_684-304dupCTAGCTGAGGAACTGGGC	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding	5/5			chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547845	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02109.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	177	0.0113	18	c.-42 others(29): Show c.-4210_-4209insTTCTTTCTTTCTTTCTTT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4150		chr7	TogoVar
UQCC1_chr20_35297578_35416973	35330589	A A	AACATATA others(11): Show AACATATACACCCTCATAG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	254	0.0039	18	c.574 others(37): Show c.574-15825_574-15824insCTATGAGGGTGTATATGT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338886	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0005 a0003c0003t0002g0005	1	223	0.0045	18	c.573 others(35): Show c.573+8277_573+8278insATATATATATATATATAT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338913	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03688.hp2 NA18980.hp2 HG02135.hp1 HG03688.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0214 a0001c0001t0001g0232 a0001c0001t0001g0183 a0001c0001t0001g0214 a0001c0001t0001g0232	3	111	0.0270	18	c.573 others(35): Show c.573+8250_573+8251insCATATATATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35410704	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01891.hp1 others(6): Show HG00738.hp2 HG01167.hp1 HG01891.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02886.hp2 NA18522.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0003 a0002c0002t0004	a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0034 others(6): Show a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0004g0037 a0002c0002t0004g0038 a0002c0002t0004g0039 a0002c0002t0004g0040	9	65	0.1385	18	c.24+ others(33): Show c.24+1218_24+1235dupTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35410715	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	254	0.0039	18	c.24+ others(33): Show c.24+1224_24+1225insGTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35410716	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01517.hp1 HG02027.hp2 others(13): Show HG01175.hp1 HG01517.hp1 HG02027.hp2 HG02451.hp1 HG02738.hp1 HG03017.hp2 HG03195.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp2 NA18747.hp2 NA18947.hp1 NA18983.hp2 NA18994.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008	a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 others(13): Show a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0149 a0001c0001t0002g0255 a0001c0001t0007g0150 a0001c0001t0008g0151	16	223	0.0717	18	c.24+ others(33): Show c.24+1223_24+1224insGTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35410721	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	247	0.0040	18	c.24+ others(33): Show c.24+1218_24+1219insGTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35412617	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03453.hp2 HG03486.hp1 others(4): Show HG02970.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03688.hp1 NA18978.hp1 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0086 a0002c0002t0001g0093 a0002c0002t0001g0100 others(4): Show a0002c0002t0001g0086 a0002c0002t0001g0093 a0002c0002t0001g0100 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0051 a0002c0002t0003g0058	7	71	0.0986	18	c.-65 others(27): Show c.-655_-654insTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding		645		chr20	TogoVar
UQCC1_chr20_35297578_35416973	35415259	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03239.hp2 HG03195.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0226 a0001c0001t0008g0151 a0001c0001t0001g0226 a0001c0001t0008g0151	2	7	0.2857	18	c.-32 others(29): Show c.-3297_-3296insAAAAAAAAAAAAAAAAAA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding		3287		chr20	TogoVar
UQCC5_chr3_52531605_52546890	52542619	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01346.hp1 HG02135.hp1 others(5): Show HG00738.hp2 HG01346.hp1 HG02135.hp1 HG02698.hp1 HG03239.hp1 NA18946.hp2 NA18956.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0023	8	13	0.6154	18	c.21 others(29): Show c.2134_*2135insAAAAAAAAAAAAAAAAAA	UQCC5	ENSG00000168273.8	transcript	ENST00000477703.6	protein_coding		730		chr3	TogoVar
UQCRB_chr8_96217947_96240545	96222794	T T	TCATACAC others(11): Show TCATACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01496.hp1 others(1): Show HG01168.hp1 HG01169.hp2 HG01496.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0030 a0001c0001t0002g0002 a0001c0001t0002g0030	4	152	0.0263	18	c.82 others(29): Show c.8260_*8261insTGTGTGTGTGTGTGTATG	UQCRB	ENSG00000156467.10	transcript	ENST00000287022.10	protein_coding		152		chr8	TogoVar
UQCRC2_chr16_21948361_21988660	21961626	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG01167.hp1 others(6): Show HG00408.hp1 HG00544.hp1 HG01167.hp1 HG01952.hp1 NA18939.hp2 NA18992.hp2 NA19056.hp1 NA19077.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0087 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0002t0001g0152	9	26	0.3462	18	c.333 others(33): Show c.333-808_333-791dupATATATATATATATATAT	UQCRC2	ENSG00000140740.11	transcript	ENST00000268379.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
URAD_chr13_27972717_27993693	27990728	T T	TGTATAGG others(11): Show TGTATAGGTATAGGTATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02615.hp2 HG02970.hp2 others(1): Show HG00597.hp1 HG02615.hp2 HG02970.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0080 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0080	4	246	0.0163	18	c.-20 others(29): Show c.-2092_-2091insCTATACCTATACCTATAC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2036		chr13	TogoVar
URAD_chr13_27972717_27993693	27990761	A A	ATAGGTAT others(11): Show ATAGGTATAGGTATAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	312	0.0032	18	c.-21 others(29): Show c.-2125_-2124insCACCTATACCTATACCTA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2069		chr13	TogoVar
URAD_chr13_27972717_27993693	27990833	G G	GTAGGTGT others(11): Show GTAGGTGTAGGTATAGGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02976.hp2 HG02970.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0127 a0001c0001t0002g0130	2	122	0.0164	18	c.-21 others(29): Show c.-2197_-2196insTACCTATACCTACACCTA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2141		chr13	TogoVar

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