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	35711168	T T	TTTTTGTT others(3): Show TTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02257.hp1 HG02717.hp1 others(2): Show HG01928.hp1 HG02257.hp1 HG02717.hp1 HG03225.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0013 a0001c0002t0015 a0001c0002t0024 others(2): Show a0001c0002t0013 a0001c0002t0015 a0001c0002t0024 a0002c0005t0017 a0002c0005t0018	a0001c0002t0013g0062 a0001c0002t0015g0043 a0001c0002t0024g0027 others(2): Show a0001c0002t0013g0062 a0001c0002t0015g0043 a0001c0002t0024g0027 a0002c0005t0017g0030 a0002c0005t0018g0054	5	59	0.0847	10	c.111 others(29): Show c.1117+5228_1117+5237dupTTTTGTTTTG	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35719141	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	7	0.1429	10	c.111 others(29): Show c.1118-3032_1118-3023dupACACACACAC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35755478	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02922.hp1 NA19240.hp2 HG02886.hp2 HG02922.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0003t0014 a0001c0004t0003 a0001c0003t0003 a0001c0003t0014 a0001c0004t0003	a0001c0003t0003g0008 a0001c0003t0014g0040 a0001c0004t0003g0004 a0001c0003t0003g0008 a0001c0003t0014g0040 a0001c0004t0003g0004	3	45	0.0667	10	c.216 others(29): Show c.2164-3832_2164-3823dupGTGTGTGTGT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35788689	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0017 a0002c0005t0017	a0002c0005t0017g0030 a0002c0005t0017g0030	1	47	0.0213	10	c.265 others(29): Show c.2658-1669_2658-1660dupACACACACAC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35789137	C C	CTATATAT others(3): Show CTATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	9	0.1111	10	c.265 others(29): Show c.2658-1180_2658-1171dupATATATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93459674	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG02647.hp1 others(15): Show HG02280.hp2 HG02572.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 NA20129.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0001c0005 a0001c0009 others(6): Show a0001c0002 a0001c0005 a0001c0009 a0001c0016 a0001c0019 a0001c0021 a0001c0041 a0001c0043 a0009c0033	a0001c0002t0001 a0001c0005t0001 a0001c0009t0001 others(6): Show a0001c0002t0001 a0001c0005t0001 a0001c0009t0001 a0001c0016t0001 a0001c0019t0001 a0001c0021t0001 a0001c0041t0001 a0001c0043t0001 a0009c0033t0001	a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0021 others(15): Show a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0005t0001g0025 a0001c0009t0001g0008 a0001c0009t0001g0018 a0001c0009t0001g0019 a0001c0009t0001g0191 a0001c0016t0001g0020 a0001c0019t0001g0001 a0001c0021t0001g0190 a0001c0021t0001g0192 a0001c0041t0001g0014 a0001c0043t0001g0003 a0009c0033t0001g0007	18	84	0.2143	10	c.23- others(25): Show c.23-7992_23-7983dupTTTTTTTTTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93467628	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp2 HG02723.hp1 others(5): Show HG00733.hp1 HG00741.hp2 HG02723.hp1 HG02886.hp1 HG03130.hp1 HG03654.hp2 HG03831.hp2 HG03942.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0001c0011 a0008c0026 a0001c0002 a0001c0011 a0008c0026	a0001c0002t0001 a0001c0011t0001 a0008c0026t0001 a0001c0002t0001 a0001c0011t0001 a0008c0026t0001	a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0168 others(5): Show a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0011t0001g0128 a0001c0011t0001g0156 a0008c0026t0001g0085	8	15	0.5333	10	c.23- others(21): Show c.23-22_23-13dupTTTTTTTTTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93515264	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA20129.hp2 HG02572.hp2 NA20129.hp2	a0001 a0001	a0001c0009 a0001c0016 a0001c0009 a0001c0016	a0001c0009t0001 a0001c0016t0001 a0001c0009t0001 a0001c0016t0001	a0001c0009t0001g0019 a0001c0016t0001g0020 a0001c0009t0001g0019 a0001c0016t0001g0020	2	19	0.1053	10	c.899 others(27): Show c.899-8696_899-8687dupGTGTGTGTGT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	7/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93558593	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03041.hp1 HG00639.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0132 a0001c0001t0001g0086 a0001c0001t0001g0132	2	4	0.5000	10	c.175 others(31): Show c.1756-13266_1756-13257dupTTTTTTTTTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	14/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93660520	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02559.hp1 HG03041.hp1 others(2): Show HG00597.hp1 HG02559.hp1 HG03041.hp1 HG03041.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0086 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0086 a0001c0002t0001g0120 a0001c0005t0001g0153	5	74	0.0676	10	c.685 others(29): Show c.6858+1294_6858+1303dupATATATATAT	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(3): Show ATATATATATG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0016 a0001c0009t0001g0016	1	117	0.0085	10	c.685 others(29): Show c.6858+1303_6858+1304insATATATATGT	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(3): Show ATATATATGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	117	0.0085	10	c.685 others(29): Show c.6858+1303_6858+1304insATATATGTGT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93660563	A A	ATATATGT others(3): Show ATATATGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0056 a0001c0030t0001g0056	1	117	0.0085	10	c.685 others(29): Show c.6858+1303_6858+1304insATATGTGTGT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93660563	A A	ATATGTGT others(3): Show ATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02300.hp1 HG01192.hp2 HG02300.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0113 a0002c0010t0001g0158 a0002c0010t0001g0113 a0002c0010t0001g0158	2	118	0.0169	10	c.685 others(29): Show c.6858+1303_6858+1304insATGTGTGTGT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209862649	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01433.hp2 others(12): Show HG00280.hp1 HG00323.hp2 HG01433.hp2 HG01891.hp2 HG02602.hp1 HG02683.hp2 HG02738.hp1 HG02895.hp2 HG03239.hp1 HG03490.hp2 HG03669.hp1 HG04228.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0009 a0016 a0001 a0009 a0016	a0001c0005 a0001c0006 a0001c0010 others(6): Show a0001c0005 a0001c0006 a0001c0010 a0001c0016 a0001c0043 a0001c0045 a0001c0047 a0009c0030 a0016c0044	a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 others(8): Show a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0010t0008 a0001c0016t0002 a0001c0043t0001 a0001c0045t0001 a0001c0047t0002 a0009c0030t0002 a0016c0044t0001	a0001c0005t0001g0075 a0001c0005t0001g0108 a0001c0005t0001g0187 others(12): Show a0001c0005t0001g0075 a0001c0005t0001g0108 a0001c0005t0001g0187 a0001c0005t0002g0079 a0001c0006t0001g0001 a0001c0006t0001g0090 a0001c0006t0002g0179 a0001c0010t0008g0026 a0001c0016t0002g0015 a0001c0016t0002g0084 a0001c0043t0001g0188 a0001c0045t0001g0039 a0001c0047t0002g0003 a0009c0030t0002g0064 a0016c0044t0001g0186	15	151	0.0993	10	c.362 others(31): Show c.3628-10099_3628-10090dupTTTTTTTTTT	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	22/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209866525	C C	CACACACA others(3): Show CACACACACAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0088 a0001c0003t0006g0088	1	172	0.0058	10	c.362 others(29): Show c.3628-6224_3628-6223insTACACACACA	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(3): Show CACACACACAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG01261.hp1 others(1): Show HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0024 a0001c0001 a0001c0002 a0001c0024	a0001c0001t0009 a0001c0002t0001 a0001c0024t0001 a0001c0001t0009 a0001c0002t0001 a0001c0024t0001	a0001c0001t0009g0147 a0001c0002t0001g0047 a0001c0002t0001g0048 others(1): Show a0001c0001t0009g0147 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0024t0001g0080	4	157	0.0255	10	c.362 others(29): Show c.3628-6224_3628-6223insCATACACACA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	22/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209866529	C C	CACACACA others(3): Show CACACACACAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03486.hp2 HG02258.hp2 HG03486.hp2	a0004 a0004	a0004c0019 a0004c0020 a0004c0019 a0004c0020	a0004c0019t0001 a0004c0020t0006 a0004c0019t0001 a0004c0020t0006	a0004c0019t0001g0091 a0004c0020t0006g0092 a0004c0019t0001g0091 a0004c0020t0006g0092	2	152	0.0132	10	c.362 others(29): Show c.3628-6224_3628-6223insCACATACACA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	22/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209866533	C C	CATACACA others(3): Show CATACACACAG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	127	0.0079	10	c.362 others(29): Show c.3628-6224_3628-6223insTACACACAGA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	22/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209938676	G G	GTCTCTCT others(3): Show GTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02970.hp2 HG03579.hp2 others(1): Show HG02486.hp1 HG02970.hp2 HG03579.hp2 NA19043.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0021 a0002c0025 others(1): Show a0001c0002 a0001c0021 a0002c0025 a0005c0046	a0001c0002t0010 a0001c0021t0015 a0002c0025t0001 others(1): Show a0001c0002t0010 a0001c0021t0015 a0002c0025t0001 a0005c0046t0001	a0001c0002t0010g0051 a0001c0021t0015g0093 a0002c0025t0001g0036 others(1): Show a0001c0002t0010g0051 a0001c0021t0015g0093 a0002c0025t0001g0036 a0005c0046t0001g0101	4	30	0.1333	10	c.646 others(27): Show c.6466-770_6466-761dupCTCTCTCTCT	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	42/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209955692	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18995.hp1 HG02055.hp2 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0123 a0001c0004t0001g0031 a0001c0002t0001g0123 a0001c0004t0001g0031	2	92	0.0217	10	c.745 others(29): Show c.7457+1460_7457+1469dupTATATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209955738	T T	TATATATA others(3): Show TATATATATAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01261.hp1 HG01993.hp1 others(1): Show HG01255.hp1 HG01261.hp1 HG01993.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0002 a0001c0002t0001 a0001c0003t0002	a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0099 others(1): Show a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0099 a0001c0003t0002g0012	4	125	0.0320	10	c.745 others(29): Show c.7457+1469_7457+1470insTATATATACA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC93A_chr6_167286315_167321014	167288449	T T	TACACACA others(3): Show TACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG02071.hp1 HG02572.hp1 others(3): Show HG01993.hp1 HG02071.hp1 HG02572.hp1 HG03669.hp1 HG04199.hp2 NA18947.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0018	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0007c0006 a0018c0045	a0001c0001t0002 a0002c0002t0005 a0003c0003t0006 others(2): Show a0001c0001t0002 a0002c0002t0005 a0003c0003t0006 a0007c0006t0002 a0018c0045t0005	a0001c0001t0002g0257 a0002c0002t0005g0200 a0002c0002t0005g0218 others(3): Show a0001c0001t0002g0257 a0002c0002t0005g0200 a0002c0002t0005g0218 a0003c0003t0006g0171 a0007c0006t0002g0281 a0018c0045t0005g0096	6	32	0.1875	10	c.-30 others(21): Show c.-3041_-3040insACACACACAC	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding		2865		chr6	TogoVar
UNC93B1_chr11_67986100_68009097	67987215	G G	GTAAAATA others(3): Show GTAAAATAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG00741.hp2 others(20): Show HG00140.hp1 HG00735.hp2 HG00741.hp2 HG01123.hp1 HG01361.hp1 HG02074.hp1 HG02083.hp1 HG02818.hp2 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03710.hp1 NA18612.hp1 NA18951.hp1 NA18964.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19062.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0113 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0183 a0001c0007t0001g0036	23	201	0.1144	10	c.43 others(21): Show c.4330_*4331insTTTTATTTTA	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3884		chr11	TogoVar
UNC93B1_chr11_67986100_68009097	67987276	T T	TAAAATAA others(3): Show TAAAATAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG01109.hp2 others(23): Show HG00597.hp2 HG00609.hp2 HG01109.hp2 HG01243.hp2 HG01891.hp2 HG02040.hp1 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02723.hp1 HG02886.hp2 HG03017.hp2 HG03041.hp2 HG03579.hp1 HG03831.hp1 HG03927.hp2 NA18961.hp2 NA18974.hp2 NA18979.hp2 NA18984.hp1 NA18993.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0003 a0001c0002t0002g0012 a0001c0002t0002g0023 others(17): Show a0001c0002t0002g0003 a0001c0002t0002g0012 a0001c0002t0002g0023 a0001c0002t0002g0053 a0001c0002t0002g0152 a0001c0002t0002g0157 a0001c0002t0002g0163 a0001c0003t0003g0014 a0001c0003t0003g0015 a0001c0003t0003g0016 a0001c0003t0003g0017 a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0003g0027 a0001c0003t0003g0061 a0001c0003t0003g0065 a0001c0003t0003g0079 a0001c0003t0003g0080 a0001c0003t0003g0085 a0001c0003t0003g0096	26	220	0.1182	10	c.42 others(21): Show c.4269_*4270insTTTTTATTTT	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3823		chr11	TogoVar
UNC93B1_chr11_67986100_68009097	67995576	G G	GCCCCCCC others(3): Show GCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01981.hp1 HG02015.hp1 others(15): Show HG01099.hp1 HG01981.hp1 HG02015.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02698.hp1 HG02965.hp1 HG03492.hp2 HG03927.hp1 NA18961.hp2 NA18979.hp1 NA18993.hp2 NA19011.hp2 NA19056.hp1 NA19067.hp2 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0003 a0001c0003t0007 a0001c0005t0006 a0001c0003t0003 a0001c0003t0007 a0001c0005t0006	a0001c0003t0003g0016 a0001c0003t0003g0017 a0001c0003t0003g0029 others(10): Show a0001c0003t0003g0016 a0001c0003t0003g0017 a0001c0003t0003g0029 a0001c0003t0003g0064 a0001c0003t0003g0070 a0001c0003t0003g0077 a0001c0003t0003g0079 a0001c0003t0003g0082 a0001c0003t0003g0083 a0001c0003t0003g0093 a0001c0003t0007g0060 a0001c0005t0006g0186 a0001c0005t0006g0188	18	160	0.1125	10	c.136 others(25): Show c.1363+25_1363+34dupGGGGGGGGGG	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding	9/10			chr11	TogoVar
UNC93B1_chr11_67986100_68009097	68002185	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01099.hp2 others(23): Show HG00099.hp2 HG00140.hp2 HG01099.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG02027.hp2 HG02074.hp2 HG02165.hp1 HG02559.hp2 HG02698.hp1 HG03041.hp1 HG03453.hp2 HG03486.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 NA18948.hp1 NA18962.hp2 NA18984.hp1 NA19003.hp1 NA19084.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0010 a0004c0012	a0001c0001t0004 a0001c0002t0002 a0001c0003t0003 others(2): Show a0001c0001t0004 a0001c0002t0002 a0001c0003t0003 a0002c0010t0003 a0004c0012t0011	a0001c0001t0004g0146 a0001c0002t0002g0013 a0001c0002t0002g0058 others(17): Show a0001c0001t0004g0146 a0001c0002t0002g0013 a0001c0002t0002g0058 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0003t0003g0033 a0001c0003t0003g0064 a0001c0003t0003g0089 a0001c0003t0003g0091 a0001c0003t0003g0093 a0001c0003t0003g0094 a0001c0003t0003g0095 a0001c0003t0003g0096 a0002c0010t0003g0090 a0002c0010t0003g0092 a0004c0012t0011g0147	26	46	0.5652	10	c.392 others(25): Show c.392+827_392+836dupGTGTGTGTGT	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding	3/10			chr11	TogoVar
UNKL_chr16_1358205_1419704	1391249	C C	CACACACA others(3): Show CACACACACAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02451.hp2 HG02486.hp1 others(7): Show HG00639.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02818.hp1 HG02897.hp2 HG02965.hp1 HG03209.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0017 a0001c0001t0059 a0001c0001t0068 others(2): Show a0001c0001t0017 a0001c0001t0059 a0001c0001t0068 a0001c0007t0027 a0001c0007t0028	a0001c0001t0017g0182 a0001c0001t0017g0297 a0001c0001t0017g0298 others(7): Show a0001c0001t0017g0182 a0001c0001t0017g0297 a0001c0001t0017g0298 a0001c0001t0017g0300 a0001c0001t0059g0296 a0001c0001t0068g0299 a0001c0007t0027g0010 a0001c0007t0027g0012 a0001c0007t0028g0009 a0001c0007t0028g0011	10	320	0.0313	10	c.102 others(27): Show c.1024-556_1024-555insTTGTGTGTGT	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	8/14			chr16	TogoVar
UNK_chr17_75779806_75830799	75782239	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02723.hp2 NA19064.hp2 HG01884.hp2 HG02723.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0002 a0001c0001t0008 a0001c0003t0002	a0001c0001t0008g0268 a0001c0001t0008g0269 a0001c0003t0002g0230 a0001c0001t0008g0268 a0001c0001t0008g0269 a0001c0003t0002g0230	3	106	0.0283	10	c.-26 others(21): Show c.-2642_-2641insTTTTTTTTTT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		2566		chr17	TogoVar
UNK_chr17_75779806_75830799	75782993	T T	TTAAAAAA others(3): Show TTAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0216 a0001c0004t0001g0216	1	129	0.0078	10	c.-18 others(21): Show c.-1888_-1887insTAAAAAAAAA	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		1812		chr17	TogoVar
UNK_chr17_75779806_75830799	75805810	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01169.hp2 others(27): Show HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01515.hp1 HG02040.hp1 HG02109.hp2 HG02132.hp1 HG02148.hp2 HG03209.hp2 HG03831.hp1 NA18947.hp1 NA18956.hp2 NA18963.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18992.hp1 NA18993.hp2 NA19007.hp2 NA19056.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19080.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA20752.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0001c0003 a0001c0005 others(5): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0008c0024	a0001c0002t0001 a0001c0002t0010 a0001c0003t0002 others(6): Show a0001c0002t0001 a0001c0002t0010 a0001c0003t0002 a0001c0005t0001 a0001c0006t0013 a0001c0007t0002 a0001c0008t0005 a0001c0011t0004 a0008c0024t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0033 others(20): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0033 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0178 a0001c0002t0001g0199 a0001c0002t0001g0205 a0001c0002t0010g0032 a0001c0002t0010g0200 a0001c0002t0010g0201 a0001c0003t0002g0012 a0001c0003t0002g0096 a0001c0003t0002g0119 a0001c0003t0002g0260 a0001c0005t0001g0255 a0001c0006t0013g0224 a0001c0007t0002g0229 a0001c0008t0005g0073 a0001c0011t0004g0064 a0008c0024t0001g0203	30	125	0.2400	10	c.105 others(27): Show c.105-3924_105-3915dupGTGTGTGTGT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
UPB1_chr22_24490332_24533390	24496372	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18977.hp2 HG01517.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0259 a0001c0001t0003g0038 a0001c0001t0001g0259 a0001c0001t0003g0038	2	252	0.0079	10	c.104 others(25): Show c.104+887_104+896dupCACACACACA	UPB1	ENSG00000100024.15	transcript	ENST00000326010.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
UPF1_chr19_18826959_18873230	18829271	C C	CATATATA others(3): Show CATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG03579.hp1 NA18950.hp2 others(1): Show HG00544.hp2 HG03579.hp1 NA18950.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0003t0018 a0001c0010t0001 a0001c0001t0001 a0001c0003t0018 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0193 a0001c0003t0018g0175 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0193 a0001c0003t0018g0175 a0001c0010t0001g0001	4	89	0.0449	10	c.-29 others(21): Show c.-2939_-2938insATATATATAT	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2687		chr19	TogoVar
UPF1_chr19_18826959_18873230	18829293	T T	TATATATA others(3): Show TATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	366	0.0027	10	c.-29 others(21): Show c.-2917_-2916insATATATATAC	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2665		chr19	TogoVar
UPF1_chr19_18826959_18873230	18829613	A A	ATATATAT others(3): Show ATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA19087.hp2 HG02165.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0257 a0001c0002t0001g0258	2	375	0.0053	10	c.-25 others(21): Show c.-2597_-2596insTATATATATG	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2345		chr19	TogoVar
UPF1_chr19_18826959_18873230	18843717	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp1 HG02965.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0094 a0001c0001t0003g0095	2	244	0.0082	10	c.232 others(27): Show c.232-2237_232-2228dupGTGTGTGTGT	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr19	TogoVar
UPF1_chr19_18826959_18873230	18850307	T T	TGGCCCAG others(3): Show TGGCCCAGCCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0175 a0001c0003t0018g0175	1	392	0.0026	10	c.629 others(23): Show c.629+66_629+75dupGGCCCAGCCC	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr19	TogoVar
UPF2_chr10_11915022_12047809	11938853	G G	GTTTGTTT others(3): Show GTTTGTTTTTT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0264 a0001c0002t0001g0264	1	63	0.0159	10	c.337 others(29): Show c.3379-2142_3379-2141insAAAAAACAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11938853	G G	GTTTTTTG others(3): Show GTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0263 a0001c0002t0001g0263	1	63	0.0159	10	c.337 others(29): Show c.3379-2142_3379-2141insAAACAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11938853	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01928.hp1 others(8): Show HG00438.hp2 HG00544.hp2 HG01928.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp1 NA18964.hp2 NA18971.hp2 NA18998.hp2 NA19058.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0001t0009 a0001c0002t0001	a0001c0001t0009g0050 a0001c0002t0001g0259 a0001c0002t0001g0281 others(8): Show a0001c0001t0009g0050 a0001c0002t0001g0259 a0001c0002t0001g0281 a0001c0002t0001g0284 a0001c0002t0001g0288 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0298 a0001c0002t0001g0318	11	73	0.1507	10	c.337 others(29): Show c.3379-2151_3379-2142dupAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11938854	T T	TTTTTTTT others(3): Show TTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0239 a0001c0010t0001g0239	1	328	0.0030	10	c.337 others(29): Show c.3379-2143_3379-2142insCAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11985884	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(147): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18997.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19079.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0010 a0002c0003 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0004t0007 a0001c0009t0001 a0001c0010t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0004c0011t0001	a0001c0001t0001g0008 a0001c0001t0001g0153 a0001c0001t0001g0175 others(146): Show a0001c0001t0001g0008 a0001c0001t0001g0153 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0219 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0202 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0005g0151 a0001c0001t0005g0176 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0191 a0001c0001t0009g0050 a0001c0002t0001g0112 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0222 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0231 a0001c0002t0001g0233 a0001c0002t0001g0236 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0255 a0001c0002t0001g0258 a0001c0002t0001g0261 a0001c0002t0001g0263 a0001c0002t0001g0266 a0001c0002t0001g0270 a0001c0002t0001g0273 a0001c0002t0001g0275 a0001c0002t0001g0279 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0290 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0316 a0001c0002t0001g0319 a0001c0004t0007g0115 a0001c0009t0001g0005 a0001c0010t0001g0239 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0123 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0002g0129 a0002c0003t0003g0133 a0004c0011t0001g0310	150	203	0.7389	10	c.184 others(29): Show c.1845-6729_1845-6720dupAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	8/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11994975	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp2 HG01123.hp2 others(6): Show HG00642.hp2 HG00673.hp2 HG01123.hp2 HG01361.hp2 HG02129.hp1 HG04184.hp1 NA18953.hp2 NA18998.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0053 others(6): Show a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0053 a0001c0001t0002g0060 a0001c0001t0002g0072 a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0003g0003 a0001c0001t0003g0030	9	121	0.0744	10	c.184 others(29): Show c.1844+2687_1844+2696dupTTTTTTTTTT	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	8/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	12038378	T T	TCACTCAC others(3): Show TCACTCACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03239.hp2 HG04184.hp1 HG00140.hp1 HG03239.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0003g0003 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0003g0003	3	136	0.0221	10	c.-18 others(27): Show c.-18-2938_-18-2937insTGTGTGAGTG	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	1/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	12042818	C C	CAGAGGCG others(3): Show CAGAGGCGACT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0002 a0001c0001t0010g0002	1	332	0.0030	10	c.-83 others(17): Show c.-83_-82insAGTCGCCTCT	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding		10		chr10	TogoVar
UPF2_chr10_11915022_12047809	12046957	A A	AGTTTTCT others(3): Show AGTTTTCTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	332	0.0030	10	c.-42 others(21): Show c.-4222_-4221insGACAGAAAAC	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding		4149		chr10	TogoVar
UPF3B_chrX_119829022_119857963	119842576	T T	TCACACAC others(3): Show TCACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG02615.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	2	280	0.0071	10	c.580 others(25): Show c.580+614_580+615insTGTGTGTGTG	UPF3B	ENSG00000125351.14	transcript	ENST00000276201.7	protein_coding	5/10			chrX	TogoVar
UPF3B_chrX_119829022_119857963	119842580	T T	TCACACAC others(3): Show TCACACACACA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03540.hp1 HG02970.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0165 a0001c0001t0001g0130 a0001c0001t0001g0165	2	256	0.0078	10	c.580 others(25): Show c.580+601_580+610dupTGTGTGTGTG	UPF3B	ENSG00000125351.14	transcript	ENST00000276201.7	protein_coding	5/10			chrX	TogoVar
UPF3B_chrX_119829022_119857963	119842597	C C	CACACACA others(3): Show CACACACACAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG02738.hp1 others(1): Show HG01515.hp1 HG01517.hp1 HG02738.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0072 a0001c0001t0001g0001 a0001c0001t0001g0072	4	278	0.0144	10	c.580 others(25): Show c.580+593_580+594insATGTGTGTGT	UPF3B	ENSG00000125351.14	transcript	ENST00000276201.7	protein_coding	5/10			chrX	TogoVar
UPF3B_chrX_119829022_119857963	119842599	C C	CACACACA others(3): Show CACACACACAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG01081.hp1 others(18): Show HG00438.hp2 HG00558.hp1 HG01081.hp1 HG02056.hp1 HG02451.hp1 HG03486.hp1 HG03710.hp1 NA18951.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19078.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0036 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164	21	275	0.0764	10	c.580 others(25): Show c.580+591_580+592insATGTGTGTGT	UPF3B	ENSG00000125351.14	transcript	ENST00000276201.7	protein_coding	5/10			chrX	TogoVar

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