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
UBR2_chr6_42559029_42698505	42619453	A A	ATATATTT others(13): Show ATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02257.hp1 HG03486.hp2 others(1): Show HG00621.hp1 HG02257.hp1 HG03486.hp2 NA19076.hp2	a0001 a0007 a0001 a0007	a0001c0003 a0007c0022 a0001c0003 a0007c0022	a0001c0003t0003 a0007c0022t0003 a0001c0003t0003 a0007c0022t0003	a0001c0003t0003g0155 a0001c0003t0003g0315 a0001c0003t0003g0316 others(1): Show a0001c0003t0003g0155 a0001c0003t0003g0315 a0001c0003t0003g0316 a0007c0022t0003g0261	4	57	0.0702	20	c.128 others(39): Show c.1281+1947_1281+1948insATATTTTTTTTTTTTTTTTT	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	11/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UBR2_chr6_42559029_42698505	42619453	A A	ATATTTTT others(13): Show ATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01981.hp1 HG02615.hp1 HG01123.hp1 HG01981.hp1 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0003 a0002c0005t0025 a0001c0003t0003 a0002c0005t0025	a0001c0003t0003g0254 a0001c0003t0003g0298 a0002c0005t0025g0016 a0001c0003t0003g0254 a0001c0003t0003g0298 a0002c0005t0025g0016	3	56	0.0536	20	c.128 others(39): Show c.1281+1947_1281+1948insATTTTTTTTTTTTTTTTTTT	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	11/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UBR2_chr6_42559029_42698505	42631860	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0272 a0001c0003t0003g0272	1	16	0.0625	20	c.128 others(37): Show c.1282-681_1282-662dupTATATATATATATATATATA	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	11/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UBR2_chr6_42559029_42698505	42632069	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0009 a0009	a0009c0023 a0009c0023	a0009c0023t0023 a0009c0023t0023	a0009c0023t0023g0001 a0009c0023t0023g0001	1	222	0.0045	20	c.128 others(37): Show c.1282-482_1282-481insAAAAAAAAAAAATATATATA	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	11/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UBR3_chr2_169822454_170089131	169826106	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 NA19009.hp1 NA19067.hp2 HG02257.hp1 NA19009.hp1 NA19067.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0014 a0001c0006t0008 a0001c0006t0014	a0001c0006t0008g0186 a0001c0006t0008g0191 a0001c0006t0014g0189 a0001c0006t0008g0186 a0001c0006t0008g0191 a0001c0006t0014g0189	3	35	0.0857	20	c.-14 others(31): Show c.-1402_-1401insAAAAAAAAAAAAAAAAAAAA	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding		1347		chr2	TogoVar
UBR3_chr2_169822454_170089131	169831107	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0112	1	264	0.0038	20	c.545 others(37): Show c.545+3057_545+3076dupATATATATATATATATATAT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169876531	T T	TTATTGTA others(13): Show TTATTGTATTGTATTGTATTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01261.hp2 HG01346.hp2 others(10): Show HG01123.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG03704.hp1 HG03942.hp2 NA18986.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0025 a0001c0003t0016	a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 others(10): Show a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0107 a0001c0001t0006g0103 a0001c0001t0009g0024 a0001c0001t0009g0040 a0001c0001t0025g0071 a0001c0003t0016g0249	13	172	0.0756	20	c.844 others(35): Show c.844+602_844+621dupGTATTGTATTGTATTGTATT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169954165	T T	TTTGTCTT others(13): Show TTTGTCTTGTCTTGTCTTGTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp2 HG02559.hp1 HG02965.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0272 a0001c0007t0007g0275 a0001c0007t0007g0272 a0001c0007t0007g0275	2	83	0.0241	20	c.354 others(39): Show c.3545+4143_3545+4162dupGTCTTGTCTTGTCTTGTCTT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	23/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169954223	G G	GTCTTGTC others(13): Show GTCTTGTCTTGTCTTCTCTTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0201 a0001c0005t0003g0202 a0001c0005t0003g0201 a0001c0005t0003g0202	2	301	0.0066	20	c.354 others(39): Show c.3545+4162_3545+4163insGTCTTGTCTTCTCTTCTCTT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	23/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169954223	G G	GTCTTGTC others(13): Show GTCTTGTCTTGTCTTGTCTTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02896.hp2 others(1): Show HG01891.hp2 HG02055.hp2 HG02896.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0027 a0001c0005t0003 a0001c0005t0027	a0001c0005t0003g0213 a0001c0005t0003g0214 a0001c0005t0003g0218 others(1): Show a0001c0005t0003g0213 a0001c0005t0003g0214 a0001c0005t0003g0218 a0001c0005t0027g0206	4	303	0.0132	20	c.354 others(39): Show c.3545+4162_3545+4163insGTCTTGTCTTGTCTTCTCTT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	23/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	170001912	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18956.hp2 HG03139.hp2 NA18956.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0302 a0002c0004t0004g0310 a0002c0004t0004g0302 a0002c0004t0004g0310	2	113	0.0177	20	c.402 others(37): Show c.4029+509_4029+528dupAAAAAAAAAAAAAAAAAAAA	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	27/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	170087173	T T	TACACACA others(13): Show TACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0200 a0001c0002t0017g0200	1	176	0.0057	20	c.53 others(31): Show c.5330_*5331insACACACACACACACACACAC	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding		3043		chr2	TogoVar
UBR4_chr1_19069510_19215266	19143259	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0096 a0003c0003t0001g0096	1	185	0.0054	20	c.817 others(37): Show c.8179+720_8179+721insTCTTTCTTTCTTCCTTCCTT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	55/105			chr1	TogoVar
UBR4_chr1_19069510_19215266	19166714	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	2	0.5000	20	c.410 others(37): Show c.4109+288_4109+307dupTTTTTTTTTTTTTTTTTTTT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	29/105			chr1	TogoVar
UBR4_chr1_19069510_19215266	19190312	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	155	0.0065	20	c.139 others(39): Show c.1394+1875_1394+1876insATATATATATTTTTTTTTTT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	11/105			chr1	TogoVar
UBR4_chr1_19069510_19215266	19190312	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01361.hp1 HG01099.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0232 a0001c0001t0001g0216 a0001c0001t0001g0232	2	156	0.0128	20	c.139 others(39): Show c.1394+1875_1394+1876insATATATATATATTTTTTTTT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	11/105			chr1	TogoVar
UBR4_chr1_19069510_19215266	19190312	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA19057.hp2 HG02895.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0256 a0001c0001t0001g0192 a0001c0001t0001g0256	2	156	0.0128	20	c.139 others(39): Show c.1394+1875_1394+1876insATATATATATATATATTTTT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	11/105			chr1	TogoVar
UBR5_chr8_102247273_102417700	102258076	G G	GTCTAAAA others(13): Show GTCTAAAACGCTTTCAGATGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG01167.hp1 HG02896.hp1 HG02897.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 others(1): Show a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214	4	326	0.0123	20	c.810 others(37): Show c.8102-379_8102-360dupTCATCTGAAAGCGTTTTAGA	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	57/58			chr8	TogoVar
UBR5_chr8_102247273_102417700	102309037	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02165.hp1 HG02965.hp2 others(2): Show HG02080.hp2 HG02165.hp1 HG02965.hp2 HG03704.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0294 others(2): Show a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0294 a0001c0001t0002g0301 a0001c0001t0002g0313	5	117	0.0427	20	c.261 others(39): Show c.2616+2242_2616+2261dupCACACACACACACACACACA	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	20/58			chr8	TogoVar
UBR5_chr8_102247273_102417700	102382825	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	99	0.0101	20	c.63- others(37): Show c.63-21219_63-21200dupGTGTGTGTGTGTGTGTGTGT	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	1/58			chr8	TogoVar
UBR5_chr8_102247273_102417700	102387711	A A	AATGGAAG others(13): Show AATGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18973.hp1 HG02080.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0219 a0001c0001t0001g0224	2	326	0.0061	20	c.62+ others(37): Show c.62+24461_62+24462insCCTTCCTTCCTTCCTTCCAT	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	1/58			chr8	TogoVar
UBR5_chr8_102247273_102417700	102387721	T T	TGGAAGGA others(13): Show TGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01243.hp1 HG01243.hp2 others(17): Show HG00280.hp2 HG01243.hp1 HG01243.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02896.hp2 HG02965.hp1 HG03139.hp2 HG03579.hp2 NA18906.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0004t0001	a0001c0001t0001g0032 a0001c0001t0001g0080 a0001c0001t0001g0204 others(17): Show a0001c0001t0001g0032 a0001c0001t0001g0080 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0004t0001g0259 a0001c0004t0001g0260	20	139	0.1439	20	c.62+ others(37): Show c.62+24432_62+24451dupTTCCTTCCTTCCTTCCTTCC	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	1/58			chr8	TogoVar
UBR7_chr14_93202256_93234215	93210068	A A	AATTTATT others(13): Show AATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG00738.hp2 others(34): Show HG00438.hp1 HG00639.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01175.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02273.hp1 HG02293.hp1 HG02451.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG03017.hp1 HG03130.hp2 HG03579.hp1 HG03669.hp1 HG03927.hp1 HG04199.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0022 a0001c0006t0004	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0028 others(24): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0124 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0006g0025 a0001c0001t0006g0080 a0001c0001t0006g0081 a0001c0001t0022g0028 a0001c0006t0004g0082	37	304	0.1217	20	c.284 others(35): Show c.284+114_284+115insTATTTATTTATTTATTTATT	UBR7	ENSG00000012963.15	transcript	ENST00000013070.11	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
UBTD2_chr5_172204646_172288764	172263851	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03540.hp2 HG03579.hp1 others(1): Show HG03225.hp1 HG03540.hp2 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0367 a0001c0001t0003g0368 a0001c0001t0015g0035 others(1): Show a0001c0001t0003g0367 a0001c0001t0003g0368 a0001c0001t0015g0035 a0001c0001t0015g0036	4	74	0.0541	20	c.70+ others(37): Show c.70+19725_70+19744dupCACACACACACACACACACA	UBTD2	ENSG00000168246.6	transcript	ENST00000393792.3	protein_coding	1/2			chr5	TogoVar
UBXN2B_chr8_58406361_58456501	58410668	G G	GTATATAT others(13): Show GTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0283 a0001c0001t0005g0283	1	331	0.0030	20	c.-71 others(29): Show c.-718_-717insTATATATATATATATATATA	UBXN2B	ENSG00000215114.10	transcript	ENST00000399598.7	protein_coding		692		chr8	TogoVar
UBXN2B_chr8_58406361_58456501	58441348	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0312 a0002c0003t0012g0312	1	155	0.0065	20	c.671 others(37): Show c.671+1579_671+1598dupATATATATATATATATATAT	UBXN2B	ENSG00000215114.10	transcript	ENST00000399598.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
UBXN2B_chr8_58406361_58456501	58446779	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19091.hp1 HG00642.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0217 a0001c0001t0001g0181 a0001c0001t0001g0217	2	50	0.0400	20	c.834 others(35): Show c.834-593_834-574dupTTTTTTTTTTTTTTTTTTTT	UBXN2B	ENSG00000215114.10	transcript	ENST00000399598.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
UBXN7_chr3_196342662_196437427	196372300	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	110	0.0091	20	c.469 others(35): Show c.469-278_469-259dupGAGAGAGAGAGAGAGAGAGA	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	5/10			chr3	TogoVar
UBXN7_chr3_196342662_196437427	196375004	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp2 HG03041.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0023 a0001c0001t0014 a0001c0001t0023	a0001c0001t0014g0208 a0001c0001t0023g0003 a0001c0001t0014g0208 a0001c0001t0023g0003	2	78	0.0256	20	c.469 others(37): Show c.469-2982_469-2963dupTCCTTCCTTCCTTCCTTCCT	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	5/10			chr3	TogoVar
UBXN7_chr3_196342662_196437427	196375004	G G	GAGGGAGG others(13): Show GAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01975.hp1 HG02145.hp1 others(17): Show HG01099.hp1 HG01975.hp1 HG02145.hp1 HG02273.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02965.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG04228.hp1 NA18906.hp1 NA18973.hp1 NA19000.hp1 NA19085.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0026 a0001c0001t0060 a0001c0001t0062 a0001c0004t0002	a0001c0001t0001g0047 a0001c0001t0002g0087 a0001c0001t0002g0153 others(17): Show a0001c0001t0001g0047 a0001c0001t0002g0087 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0170 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0204 a0001c0001t0002g0236 a0001c0001t0002g0244 a0001c0001t0007g0185 a0001c0001t0010g0075 a0001c0001t0010g0077 a0001c0001t0013g0122 a0001c0001t0026g0218 a0001c0001t0060g0262 a0001c0001t0062g0128 a0001c0004t0002g0205	20	96	0.2083	20	c.469 others(37): Show c.469-2963_469-2962insTCCTTCCTTCCTTCCTCCCT	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	5/10			chr3	TogoVar
UBXN7_chr3_196342662_196437427	196375004	G G	GAGGGAGG others(13): Show GAGGGAGGGAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA21309.hp2 HG02895.hp1 HG02897.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0251 a0001c0001t0007g0184 a0001c0001t0007g0187 a0001c0001t0005g0251 a0001c0001t0007g0184 a0001c0001t0007g0187	3	79	0.0380	20	c.469 others(37): Show c.469-2963_469-2962insTCCTTCCTTCCTCCCTCCCT	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	5/10			chr3	TogoVar
UBXN7_chr3_196342662_196437427	196375004	G G	GAGGGAGG others(13): Show GAGGGAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0235 a0001c0001t0059g0235	1	77	0.0130	20	c.469 others(37): Show c.469-2963_469-2962insTCCTTCCTCCCTCCCTCCCT	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	5/10			chr3	TogoVar
UBXN7_chr3_196342662_196437427	196375040	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01943.hp2 HG02148.hp1 others(5): Show HG01934.hp1 HG01943.hp2 HG02148.hp1 HG03834.hp2 NA18939.hp2 NA18968.hp1 NA19010.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0055 a0001c0001t0003 a0001c0001t0055	a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 others(5): Show a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0111 a0001c0001t0055g0109	8	249	0.0321	20	c.469 others(37): Show c.469-2999_469-2998insCCCTTCCTTCCTTCCTTCCT	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	5/10			chr3	TogoVar
UBXN7_chr3_196342662_196437427	196375040	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	242	0.0041	20	c.469 others(37): Show c.469-2999_469-2998insCCCTCCCTTCCTTCCTTCCT	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	5/10			chr3	TogoVar
UBXN7_chr3_196342662_196437427	196401274	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	158	0.0063	20	c.289 others(37): Show c.289+1677_289+1678insATATATATATATATATATTT	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	3/10			chr3	TogoVar
UBXN7_chr3_196342662_196437427	196401823	G G	GAGAAAAG others(13): Show GAGAAAAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03098.hp2 HG02572.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0059 a0001c0001t0014 a0001c0001t0059	a0001c0001t0014g0198 a0001c0001t0059g0235 a0001c0001t0014g0198 a0001c0001t0059g0235	2	73	0.0274	20	c.289 others(37): Show c.289+1128_289+1129insTCTCTTCTCTTCTCTTTTCT	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	3/10			chr3	TogoVar
UBXN7_chr3_196342662_196437427	196401823	G G	GAGAGAAG others(13): Show GAGAGAAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00735.hp2 others(24): Show HG00099.hp1 HG00140.hp1 HG00735.hp2 HG01070.hp2 HG01261.hp2 HG01943.hp2 HG02129.hp2 HG02273.hp1 HG02602.hp2 HG03139.hp1 HG03471.hp2 HG03654.hp1 HG03942.hp2 HG04184.hp2 NA18945.hp2 NA18950.hp1 NA18970.hp2 NA18973.hp2 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA19000.hp2 NA19055.hp1 NA19055.hp2 NA19079.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0022 a0001c0001t0024 a0001c0001t0034 a0001c0001t0073	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(24): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0003g0093 a0001c0001t0003g0104 a0001c0001t0003g0196 a0001c0001t0008g0031 a0001c0001t0015g0229 a0001c0001t0015g0230 a0001c0001t0022g0210 a0001c0001t0022g0213 a0001c0001t0024g0002 a0001c0001t0034g0107 a0001c0001t0073g0212	27	98	0.2755	20	c.289 others(37): Show c.289+1109_289+1128dupTCTCTTCTCTTCTCTTCTCT	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	3/10			chr3	TogoVar
UBXN8_chr8_30739164_30772006	30759968	T T	TAAATAAA others(13): Show TAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp2 HG02717.hp2 HG02258.hp2 HG02647.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0079 a0001c0001t0001g0019 a0001c0001t0001g0079	3	163	0.0184	20	c.529 others(35): Show c.529-894_529-875dupAAATAAAATAAAATAAAATA	UBXN8	ENSG00000104691.16	transcript	ENST00000265616.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
UCHL3_chr13_75544791_75611020	75571976	C C	CTGTCTTG others(13): Show CTGTCTTGTCTTGTCTTGTCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03041.hp1 HG03041.hp2 others(4): Show HG02886.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03516.hp1 HG03710.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0067 others(4): Show a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0214 a0001c0001t0001g0216	7	63	0.1111	20	c.474 others(37): Show c.474+2501_474+2520dupGTCTTGTCTTGTCTTGTCTT	UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UCHL3_chr13_75544791_75611020	75592417	T T	TATATATA others(13): Show TATATATATATATGTATATAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	323	0.0031	20	c.475 others(37): Show c.475-2486_475-2485insGTATATACATATATATATAT	UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UCHL3_chr13_75544791_75611020	75592423	T T	TATATGTA others(13): Show TATATGTATATACATATATAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03486.hp2 HG02257.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0053 a0001c0001t0004g0036 a0001c0001t0004g0053	2	297	0.0067	20	c.475 others(37): Show c.475-2488_475-2487insGTATATACATATATACATAT	UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UCHL3_chr13_75544791_75611020	75592425	T T	TATATGTA others(13): Show TATATGTATATACATATATAC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02735.hp2 HG02965.hp2 others(5): Show HG01978.hp2 HG02735.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03225.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0064 others(4): Show a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0002g0008 a0001c0001t0002g0108 a0001c0001t0002g0116	8	314	0.0255	20	c.475 others(37): Show c.475-2486_475-2485insGTATATACATATATACATAT	UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UCHL3_chr13_75544791_75611020	75592438	A A	ATATACAT others(13): Show ATATACATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	241	0.0041	20	c.475 others(37): Show c.475-2473_475-2472insCATATATATATATATGTATA	UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UCHL5_chr1_193007254_193064360	193043151	T T	TTAAAAAA others(13): Show TTAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA20129.hp2 NA20805.hp2 NA18940.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0089 a0001c0001t0003g0017 a0001c0001t0001g0089 a0001c0001t0003g0017	3	31	0.0968	20	c.246 others(37): Show c.246+6594_246+6595insTTTTTTTTTTTTTTTTTTTA	UCHL5	ENSG00000116750.14	transcript	ENST00000367454.6	protein_coding	3/10			chr1	TogoVar
UCK2_chr1_165822614_165916618	165902592	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	36	0.0278	20	c.500 others(35): Show c.500-582_500-563dupTTTTTTTTTTTTTTTTTTTT	UCK2	ENSG00000143179.16	transcript	ENST00000367879.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
UCKL1_chr20_63934829_63961416	63935613	A A	AGGGGCCC others(13): Show AGGGGCCCTGTGCTGGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	354	0.0028	20	c.43 others(31): Show c.4343_*4362dupCGGGGCCAGCACAGGGCCCC	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding		4215		chr20	TogoVar
UCKL1_chr20_63934829_63961416	63948653	A A	AGGGGCGT others(13): Show AGGGGCGTGTGTGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02109.hp1 HG03195.hp2 others(2): Show HG01361.hp1 HG02109.hp1 HG03195.hp2 HG03654.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0260 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264	5	269	0.0186	20	c.114 others(37): Show c.114-2030_114-2011dupCTCCCTCTCACACACGCCCC	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14			chr20	TogoVar
UCN3_chr10_5359966_5379692	5369966	C C	CGCGTGTA others(13): Show CGCGTGTATGTGTGTGTATGT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18953.hp1 NA18972.hp2 HG02074.hp2 NA18953.hp1 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0007g0077 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0007g0077	3	443	0.0068	20	c.-6- others(35): Show c.-6-3748_-6-3747insCGTGTATGTGTGTGTATGTG	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370395	A A	ATATGCGT others(13): Show ATATGCGTGTATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02280.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0054 a0001c0001t0002g0252 a0001c0001t0002g0253	3	411	0.0073	20	c.-6- others(35): Show c.-6-3316_-6-3315insCGTGTATATGTGTGTGTATG	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370872	T T	TGTGTATG others(13): Show TGTGTATGCGTGTGTATATGC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	247	0.0040	20	c.-6- others(35): Show c.-6-2839_-6-2838insATGCGTGTGTATATGCGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar

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