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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
UNC79_chr14_93425939_93712876	93515264	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0018 a0001c0009t0001g0018	1	18	0.0556	12	c.899 others(29): Show c.899-8698_899-8687dupGTGTGTGTGTGT		UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	7/51					INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93588070	C C	CTTTATTT others(5): Show CTTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	191	0.0052	12	c.303 others(31): Show c.3032+1178_3032+1189dupATTTATTTATTT		UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	22/51					INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93598365	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	69	0.0145	12	c.337 others(29): Show c.3372+859_3372+870dupTGTGTGTGTGTG		UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	24/51					INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93599382	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0009 a0001c0034t0001g0009	1	192	0.0052	12	c.337 others(31): Show c.3373-1184_3373-1183insGTGTGTGTTTGT		UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	24/51					INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93660520	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01346.hp1 HG01975.hp2 others(2): Show HG00280.hp2 HG01346.hp1 HG01975.hp2 HG02109.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0054	5	74	0.0676	12	c.685 others(31): Show c.6858+1292_6858+1303dupATATATATATAT		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(5): Show ATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03486.hp2 HG03130.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0133 a0001c0001t0001g0058 a0001c0001t0001g0133	2	118	0.0169	12	c.685 others(31): Show c.6858+1303_6858+1304insATATATGTGTGT		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(5): Show ATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03654.hp2 HG01496.hp2 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0010 a0001c0002 a0002c0010	a0001c0002t0001 a0002c0010t0001 a0001c0002t0001 a0002c0010t0001	a0001c0002t0001g0168 a0002c0010t0001g0149 a0001c0002t0001g0168 a0002c0010t0001g0149	2	118	0.0169	12	c.685 others(31): Show c.6858+1303_6858+1304insATATGTGTGTGT		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(5): Show ATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	117	0.0085	12	c.685 others(31): Show c.6858+1303_6858+1304insATGTGTGTGTGT		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(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp1 HG02970.hp1 others(3): Show HG02572.hp2 HG02886.hp1 HG02970.hp1 HG03225.hp2 NA20129.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0009 a0001c0011 others(3): Show a0001c0002 a0001c0009 a0001c0011 a0001c0016 a0001c0023 a0006c0013	a0001c0002t0001 a0001c0009t0001 a0001c0011t0001 others(3): Show a0001c0002t0001 a0001c0009t0001 a0001c0011t0001 a0001c0016t0001 a0001c0023t0001 a0006c0013t0002	a0001c0002t0001g0118 a0001c0009t0001g0019 a0001c0011t0001g0156 others(3): Show a0001c0002t0001g0118 a0001c0009t0001g0019 a0001c0011t0001g0156 a0001c0016t0001g0020 a0001c0023t0001g0164 a0006c0013t0002g0046	6	66	0.0909	12	c.788 others(31): Show c.7881+1487_7881+1498dupAAAAAAAAAAAA		UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	50/51					INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209836088	C C	CATGAATG others(5): Show CATGAATGAATGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02486.hp2 others(7): Show HG01891.hp2 HG02258.hp1 HG02486.hp2 HG02622.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1	a0001 a0006 a0011 others(1): Show a0001 a0006 a0011 a0012	a0001c0009 a0001c0010 a0006c0017 others(2): Show a0001c0009 a0001c0010 a0006c0017 a0011c0051 a0012c0052	a0001c0009t0001 a0001c0009t0018 a0001c0010t0001 others(5): Show a0001c0009t0001 a0001c0009t0018 a0001c0010t0001 a0001c0010t0008 a0006c0017t0001 a0006c0017t0002 a0011c0051t0001 a0012c0052t0003	a0001c0009t0001g0024 a0001c0009t0001g0025 a0001c0009t0018g0002 others(7): Show a0001c0009t0001g0024 a0001c0009t0001g0025 a0001c0009t0018g0002 a0001c0010t0001g0023 a0001c0010t0008g0026 a0001c0010t0008g0027 a0006c0017t0001g0017 a0006c0017t0002g0016 a0011c0051t0001g0182 a0012c0052t0003g0149	10	102	0.0980	12	c.304 others(31): Show c.3041+1083_3041+1094dupATGAATGAATGA		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	18/64					INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209844451	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00642.hp1 others(12): Show HG00408.hp2 HG00544.hp2 HG00642.hp1 HG00741.hp2 HG01433.hp1 HG01891.hp1 HG02015.hp1 HG02132.hp1 HG02293.hp2 HG03669.hp2 NA18991.hp2 NA19060.hp1 NA19066.hp1 NA19070.hp2 NA19077.hp2	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0001 a0001c0002 a0001c0006 others(8): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0014 a0001c0031 a0001c0032 a0001c0038 a0001c0040 a0007c0036 a0010c0053	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0002t0002 a0001c0002t0003 a0001c0006t0002 a0001c0008t0004 a0001c0014t0001 a0001c0031t0003 a0001c0032t0003 a0001c0038t0004 a0001c0040t0002 a0007c0036t0001 a0010c0053t0001	a0001c0001t0002g0065 a0001c0001t0004g0176 a0001c0001t0014g0073 others(12): Show a0001c0001t0002g0065 a0001c0001t0004g0176 a0001c0001t0014g0073 a0001c0002t0002g0059 a0001c0002t0002g0074 a0001c0002t0003g0166 a0001c0006t0002g0078 a0001c0008t0004g0160 a0001c0014t0001g0042 a0001c0031t0003g0159 a0001c0032t0003g0174 a0001c0038t0004g0154 a0001c0040t0002g0120 a0007c0036t0001g0062 a0010c0053t0001g0030	15	123	0.1220	12	c.345 others(31): Show c.3454+2022_3454+2033dupTTTCTTTCTTTC		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	21/64					INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209862649	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02886.hp1 HG02145.hp1 HG02886.hp1	a0001 a0001	a0001c0007 a0001c0009 a0001c0007 a0001c0009	a0001c0007t0001 a0001c0009t0001 a0001c0007t0001 a0001c0009t0001	a0001c0007t0001g0038 a0001c0009t0001g0025 a0001c0007t0001g0038 a0001c0009t0001g0025	2	138	0.0145	12	c.362 others(33): Show c.3628-10101_3628-10090dupTTTTTTTTTTTT		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	22/64					INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209864036	T T	TTGATGAT others(5): Show TTGATGATGATGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(37): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG01433.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02683.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG04228.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0005 a0006 others(4): Show a0001 a0005 a0006 a0009 a0013 a0014 a0016	a0001c0005 a0001c0006 a0001c0007 others(20): Show a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0021 a0001c0022 a0001c0026 a0001c0029 a0001c0043 a0001c0045 a0001c0047 a0001c0048 a0005c0046 a0006c0017 a0009c0030 a0013c0027 a0014c0028 a0016c0044	a0001c0005t0001 a0001c0005t0002 a0001c0005t0007 others(27): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0007 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0009t0001 a0001c0009t0018 a0001c0010t0001 a0001c0010t0008 a0001c0012t0001 a0001c0013t0002 a0001c0013t0010 a0001c0015t0001 a0001c0016t0002 a0001c0021t0015 a0001c0022t0017 a0001c0026t0006 a0001c0029t0001 a0001c0043t0001 a0001c0045t0001 a0001c0047t0002 a0001c0048t0001 a0005c0046t0001 a0006c0017t0001 a0006c0017t0002 a0009c0030t0002 a0013c0027t0001 a0014c0028t0008 a0016c0044t0001	a0001c0005t0001g0075 a0001c0005t0001g0108 a0001c0005t0001g0187 others(37): Show a0001c0005t0001g0075 a0001c0005t0001g0108 a0001c0005t0001g0187 a0001c0005t0002g0079 a0001c0005t0007g0004 a0001c0006t0001g0001 a0001c0006t0001g0089 a0001c0006t0001g0090 a0001c0006t0002g0179 a0001c0007t0001g0034 a0001c0007t0001g0038 a0001c0009t0001g0024 a0001c0009t0001g0025 a0001c0009t0018g0002 a0001c0010t0001g0023 a0001c0010t0008g0026 a0001c0010t0008g0027 a0001c0012t0001g0044 a0001c0012t0001g0076 a0001c0013t0002g0183 a0001c0013t0010g0181 a0001c0015t0001g0018 a0001c0015t0001g0019 a0001c0016t0002g0015 a0001c0016t0002g0084 a0001c0021t0015g0093 a0001c0022t0017g0180 a0001c0026t0006g0033 a0001c0029t0001g0045 a0001c0043t0001g0188 a0001c0045t0001g0039 a0001c0047t0002g0003 a0001c0048t0001g0046 a0005c0046t0001g0101 a0006c0017t0001g0017 a0006c0017t0002g0016 a0009c0030t0002g0064 a0013c0027t0001g0032 a0014c0028t0008g0037 a0016c0044t0001g0186	40	186	0.2151	12	c.362 others(31): Show c.3628-8720_3628-8719insATGATGATGCTG		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	22/64					INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209866490	C C	CCACACAC others(5): Show CCACACACACACA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0140 a0001c0002t0005g0140	1	68	0.0147	12	c.362 others(31): Show c.3628-6235_3628-6224dupCACACACACACA		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(5): Show CACACACACACAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01993.hp1 HG02083.hp1 others(2): Show HG01123.hp1 HG01993.hp1 HG02083.hp1 NA18991.hp1 NA19003.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0023 a0001c0003 a0001c0004 a0001c0023	a0001c0003t0002 a0001c0004t0001 a0001c0023t0002 a0001c0003t0002 a0001c0004t0001 a0001c0023t0002	a0001c0003t0002g0012 a0001c0003t0002g0085 a0001c0004t0001g0081 others(2): Show a0001c0003t0002g0012 a0001c0003t0002g0085 a0001c0004t0001g0081 a0001c0004t0001g0087 a0001c0023t0002g0096	5	158	0.0316	12	c.362 others(31): Show c.3628-6224_3628-6223insCACATACACACA		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(5): Show CACACACACACAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	151	0.0066	12	c.362 others(31): Show c.3628-6224_3628-6223insCACACATACACA		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	22/64					INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209866533	C C	CACATACA others(5): Show CACATACACACAG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0042 a0001c0014t0001g0042	1	127	0.0079	12	c.362 others(31): Show c.3628-6224_3628-6223insCATACACACAGA		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(5): Show GTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0002 a0001c0040t0002	a0001c0040t0002g0120 a0001c0040t0002g0120	1	27	0.0370	12	c.646 others(29): Show c.6466-772_6466-761dupCTCTCTCTCTCT		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	42/64					INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC93A_chr6_167286315_167321014	167288449	T T	TACACACA others(5): Show TACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0006 a0006c0005t0006	a0006c0005t0006g0043 a0006c0005t0006g0043	1	27	0.0370	12	c.-30 others(23): Show c.-3041_-3040insACACACACACAC		UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding					2865		chr6	TogoVar
UNC93B1_chr11_67986100_68009097	68002185	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02523.hp2 HG04199.hp2 others(2): Show HG01261.hp2 HG02523.hp2 HG04199.hp2 NA19077.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0003 a0001c0001t0001 a0001c0002t0002 a0001c0003t0003	a0001c0001t0001g0175 a0001c0002t0002g0059 a0001c0002t0002g0176 others(1): Show a0001c0001t0001g0175 a0001c0002t0002g0059 a0001c0002t0002g0176 a0001c0003t0003g0097	5	25	0.2000	12	c.392 others(27): Show c.392+825_392+836dupGTGTGTGTGTGT		UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding	3/10						chr11	TogoVar
UNKL_chr16_1358205_1419704	1367789	A A	ATGGGGGA others(5): Show ATGGGGGAGGGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG04184.hp1 HG04184.hp1	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0004 a0014c0026t0004	a0014c0026t0004g0279 a0014c0026t0004g0279	1	320	0.0031	12	c.164 others(21): Show c.1643_1654dupGCCCCTCCCCCA	p.Ser others(13): Show p.Ser548_Pro551dup	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	13/15	1667/5250	1654/2202	552/733			chr16	TogoVar
UNKL_chr16_1358205_1419704	1385304	C C	CGCTGGAC others(5): Show CGCTGGACGCCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03831.hp1 HG03831.hp1	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0035 a0012c0024t0035	a0012c0024t0035g0074 a0012c0024t0035g0074	1	320	0.0031	12	c.115 others(21): Show c.1156_1167dupCTGGCGTCCAGC	p.Ser others(25): Show p.Ser389_Ala390insLeuAlaSerSer	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/15	1180/5250	1167/2202	389/733			chr16	TogoVar
UNKL_chr16_1358205_1419704	1391247	C C	CACACACA others(5): Show CACACACACACAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0055 a0001c0007t0055	a0001c0007t0055g0283 a0001c0007t0055g0283	1	320	0.0031	12	c.102 others(29): Show c.1024-554_1024-553insTTGTGTGTGTGT		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	8/14						chr16	TogoVar
UNK_chr17_75779806_75830799	75782239	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp2 NA19007.hp1 HG03486.hp1 HG03486.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0002 a0001c0002t0001 a0001c0003t0002	a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0003t0002g0085 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0003t0002g0085	3	106	0.0283	12	c.-26 others(23): Show c.-2642_-2641insTTTTTTTTTTTT		UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding					2566		chr17	TogoVar
UNK_chr17_75779806_75830799	75786573	C C	CAGAAATG others(5): Show CAGAAATGGGAGT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0119 a0001c0003t0002g0119	1	356	0.0028	12	c.104 others(29): Show c.104+1589_104+1590insAGAAATGGGAGT		UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding	1/15						chr17	TogoVar
UNK_chr17_75779806_75830799	75805810	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01261.hp2 HG02572.hp1 others(9): Show HG01106.hp2 HG01261.hp2 HG02572.hp1 HG02818.hp2 HG02896.hp1 HG03453.hp2 HG03516.hp1 HG03654.hp1 NA18906.hp2 NA18979.hp1 NA18981.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0018 a0001c0002 a0001c0003 a0001c0018	a0001c0002t0001 a0001c0002t0006 a0001c0003t0002 others(1): Show a0001c0002t0001 a0001c0002t0006 a0001c0003t0002 a0001c0018t0001	a0001c0002t0001g0008 a0001c0002t0001g0046 a0001c0002t0001g0065 others(9): Show a0001c0002t0001g0008 a0001c0002t0001g0046 a0001c0002t0001g0065 a0001c0002t0001g0177 a0001c0002t0001g0206 a0001c0002t0001g0233 a0001c0002t0006g0008 a0001c0002t0006g0173 a0001c0002t0006g0176 a0001c0003t0002g0023 a0001c0003t0002g0094 a0001c0018t0001g0219	12	107	0.1122	12	c.105 others(29): Show c.105-3926_105-3915dupGTGTGTGTGTGT		UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr17	TogoVar
UPB1_chr22_24490332_24533390	24496402	C C	CACACACA others(5): Show CACACACACACAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp2 HG01243.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0219 a0001c0001t0002g0222 a0001c0001t0001g0219 a0001c0001t0002g0222	2	301	0.0066	12	c.104 others(27): Show c.104+896_104+897insCACACACACATA		UPB1	ENSG00000100024.15	transcript	ENST00000326010.10	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr22	TogoVar
UPB1_chr22_24490332_24533390	24496416	C C	CACACACA others(5): Show CACACACACACAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0214 a0001c0001t0033g0214	1	347	0.0029	12	c.104 others(27): Show c.104+919_104+920insATACACACACAC		UPB1	ENSG00000100024.15	transcript	ENST00000326010.10	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr22	TogoVar
UPF1_chr19_18826959_18873230	18829606	C C	CATATATA others(5): Show CATATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	358	0.0028	12	c.-26 others(23): Show c.-2604_-2603insATATATATATGT		UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding					2352		chr19	TogoVar
UPF1_chr19_18826959_18873230	18829627	A A	ATACATAT others(5): Show ATACATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	384	0.0026	12	c.-25 others(23): Show c.-2583_-2582insTACATATATATG		UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding					2331		chr19	TogoVar
UPF2_chr10_11915022_12047809	11936367	A A	AAAAAACA others(5): Show AAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0312 a0001c0002t0001g0312	1	327	0.0031	12	c.354 others(29): Show c.3546+166_3546+177dupGTTTTTGTTTTT		UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	19/21						chr10	TogoVar
UPF2_chr10_11915022_12047809	11938842	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp2 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0214 a0001c0002t0001g0266 a0001c0001t0002g0214 a0001c0002t0001g0266	2	312	0.0064	12	c.337 others(31): Show c.3379-2131_3379-2130insAAAAAAAAAAAA		UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21						chr10	TogoVar
UPF2_chr10_11915022_12047809	11938853	G G	GTTTTGTT others(5): Show GTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0280 a0001c0002t0001g0280	1	63	0.0159	12	c.337 others(31): Show c.3379-2142_3379-2141insAAAAAAACAAAA		UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21						chr10	TogoVar
UPF2_chr10_11915022_12047809	11938853	G G	GTTTTTTT others(5): Show GTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0230	1	63	0.0159	12	c.337 others(31): Show c.3379-2142_3379-2141insACAAAAAAAAAA		UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21						chr10	TogoVar
UPF2_chr10_11915022_12047809	11938853	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03471.hp2 NA19060.hp2 others(1): Show HG02630.hp1 HG03471.hp2 NA19060.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0322 a0001c0002t0001g0260 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0322 a0001c0002t0001g0260 a0001c0002t0001g0297	4	66	0.0606	12	c.337 others(31): Show c.3379-2153_3379-2142dupAAAAAAAAAAAA		UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21						chr10	TogoVar
UPF2_chr10_11915022_12047809	11938864	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	332	0.0030	12	c.337 others(31): Show c.3379-2153_3379-2152insCAAAAAAAAAAA		UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21						chr10	TogoVar
UPF2_chr10_11915022_12047809	11963355	C C	CATTCATT others(5): Show CATTCATTCATTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01516.hp1 HG01517.hp1 HG00140.hp2 HG01516.hp1 HG01517.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0008 a0002c0003t0008 a0001c0006t0008 a0002c0003t0008	a0001c0006t0008g0330 a0002c0003t0008g0125 a0002c0003t0008g0126 a0001c0006t0008g0330 a0002c0003t0008g0125 a0002c0003t0008g0126	3	331	0.0091	12	c.218 others(29): Show c.2184+653_2184+654insAAATGAATGAAT		UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	11/21						chr10	TogoVar
UPF2_chr10_11915022_12047809	11985884	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01978.hp1 HG02055.hp2 others(7): Show HG01243.hp1 HG01978.hp1 HG02055.hp2 HG02280.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG03540.hp1 NA18984.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0002t0001	a0001c0001t0001g0184 a0001c0001t0001g0322 a0001c0001t0004g0323 others(7): Show a0001c0001t0001g0184 a0001c0001t0001g0322 a0001c0001t0004g0323 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0016g0333 a0001c0002t0001g0286 a0001c0002t0001g0289 a0001c0002t0001g0295	10	63	0.1587	12	c.184 others(31): Show c.1845-6731_1845-6720dupAAAAAAAAAAAA		UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	8/21						chr10	TogoVar
UPF2_chr10_11915022_12047809	11994975	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	113	0.0088	12	c.184 others(31): Show c.1844+2685_1844+2696dupTTTTTTTTTTTT		UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	8/21						chr10	TogoVar
UPF2_chr10_11915022_12047809	12007834	G G	GTAATAAT others(5): Show GTAATAATAATAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01358.hp2 HG01993.hp2 others(7): Show HG00609.hp2 HG01358.hp2 HG01993.hp2 HG02896.hp1 HG02897.hp1 NA18966.hp2 NA18977.hp2 NA18998.hp1 NA19065.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0089 a0001c0001t0002g0064 a0001c0001t0002g0065 others(7): Show a0001c0001t0001g0089 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032	10	154	0.0649	12	c.130 others(31): Show c.1307-3119_1307-3108dupTTATTATTATTA		UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	4/21						chr10	TogoVar
UPF2_chr10_11915022_12047809	12025548	C C	CTAAATAA others(5): Show CTAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01167.hp2 others(12): Show HG00140.hp2 HG01074.hp2 HG01167.hp2 HG01243.hp2 HG02559.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03471.hp1 HG03471.hp2 HG06807.hp2 NA18944.hp2 NA18979.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0002t0011 a0001c0006t0008	a0001c0001t0001g0006 a0001c0001t0001g0215 a0001c0001t0009g0050 others(12): Show a0001c0001t0001g0006 a0001c0001t0001g0215 a0001c0001t0009g0050 a0001c0002t0001g0225 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0233 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0273 a0001c0002t0001g0312 a0001c0002t0011g0274 a0001c0006t0008g0330	15	210	0.0714	12	c.114 others(31): Show c.1145+3185_1145+3196dupTTTATTTATTTA		UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	3/21						chr10	TogoVar
UPF2_chr10_11915022_12047809	12025581	T T	TAAATAAA others(5): Show TAAATAAATAAAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	332	0.0030	12	c.114 others(31): Show c.1145+3163_1145+3164insGTTTATTTATTT		UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	3/21						chr10	TogoVar
UPF2_chr10_11915022_12047809	12038378	T T	TCACTCAC others(5): Show TCACTCACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG03516.hp1 others(2): Show HG02257.hp1 HG02486.hp1 HG03516.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0010 a0001c0001t0001g0110 a0001c0005t0001g0011 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0110 a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0013	5	138	0.0362	12	c.-18 others(29): Show c.-18-2938_-18-2937insTGTGTGTGAGTG		UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	1/21						chr10	TogoVar
UPF2_chr10_11915022_12047809	12046823	A A	AAAATAAA others(5): Show AAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG03516.hp1 NA20129.hp2 HG02257.hp1 HG03516.hp1 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0013 a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0013	3	324	0.0093	12	c.-40 others(23): Show c.-4088_-4087insATTTATTTATTT		UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding					4015		chr10	TogoVar
UPF3B_chrX_119829022_119857963	119842605	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01952.hp1 HG02630.hp1 others(5): Show HG01928.hp1 HG01952.hp1 HG02630.hp1 HG02647.hp1 HG02922.hp1 HG03471.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0029 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0071	8	84	0.0952	12	c.580 others(27): Show c.580+574_580+585dupGTGTGTGTGTGT		UPF3B	ENSG00000125351.14	transcript	ENST00000276201.7	protein_coding	5/10						chrX	TogoVar
UPF3B_chrX_119829022_119857963	119851748	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG02280.hp1 others(12): Show HG00099.hp1 HG00609.hp1 HG02280.hp1 HG02486.hp1 HG02970.hp1 HG03195.hp2 HG03239.hp1 HG03490.hp1 NA18953.hp1 NA18957.hp2 NA18962.hp1 NA18965.hp1 NA18968.hp2 NA18989.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0121 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0002g0016 a0001c0001t0002g0120	15	17	0.8824	12	c.263 others(24): Show c.263+7_263+18dupAAAAAAAAAAAA		UPF3B	ENSG00000125351.14	transcript	ENST00000276201.7	protein_coding	2/10						chrX	TogoVar
UPK1A_chr19_35661517_35683481	35676171	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0067 a0001c0009t0001g0067	1	341	0.0029	12	c.648 others(27): Show c.648+168_648+179dupCTTTCTTTCTTT		UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
UPK1A_chr19_35661517_35683481	35682244	A A	AATATATA others(5): Show AATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01981.hp2 others(6): Show HG01069.hp1 HG01071.hp2 HG01981.hp2 HG02273.hp2 HG02717.hp2 HG02965.hp2 HG03579.hp2 NA18522.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0002 a0001c0001t0001 a0001c0001t0002 a0003c0004t0002	a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0128 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0002g0011 a0001c0001t0002g0204 a0001c0001t0002g0205 a0003c0004t0002g0171	9	169	0.0533	12	c.42 others(23): Show c.4225_*4226insATATATATATAT		UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding					3764		chr19	TogoVar
UPK1B_chr3_119168598_119210143	119179352	G G	GATAGATA others(5): Show GATAGATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0312 a0001c0001t0010g0312	1	206	0.0049	12	c.-29 others(29): Show c.-29+5717_-29+5718insGATATATATATA		UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
UPK1B_chr3_119168598_119210143	119179352	G G	GATATATA others(5): Show GATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03225.hp1 NA18954.hp2 others(3): Show HG00609.hp2 HG03225.hp1 NA18954.hp2 NA18960.hp1 NA18988.hp1 NA19012.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0008 a0003c0003t0003 a0001c0001t0001 a0001c0001t0008 a0003c0003t0003	a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0105 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0105 a0001c0001t0001g0307 a0001c0001t0008g0286 a0003c0003t0003g0303	6	211	0.0284	12	c.-29 others(29): Show c.-29+5749_-29+5760dupATATATATATAT		UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar

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