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
TUBGCP5_chr15_22994177_23044569	23043200	C C	CACCTGGC others(29): Show CACCTGGCCAGAGGTGCTGGGGGGATTTCATAACCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG01109.hp2 others(25): Show HG00280.hp2 HG00597.hp1 HG01109.hp2 HG01175.hp1 HG01256.hp1 HG01891.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02145.hp1 HG02257.hp2 HG02559.hp1 HG02630.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG03239.hp1 HG03471.hp2 HG03579.hp2 HG03831.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18988.hp2 NA19030.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0071 others(23): Show a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0269 a0001c0001t0001g0270	28	349	0.0802	36	c.-36 others(47): Show c.-3658_-3657insTGGGTTATGAAATCCCCCCAGCACCTCTGGCCAG GT	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3632		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23044106	T T	TGGGGGGT others(29): Show TGGGGGGTATCATAATCTGACCTGGCCAGAGATGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	341	0.0029	36	c.-45 others(47): Show c.-4564_-4563insCAGCATCTCTGGCCAGGTCAGATTATGATACCCC CC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4538		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23044107	G G	GGGGGGGT others(29): Show GGGGGGGTATCATAATCCCACCTGGCCAGAGATGCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0035 a0001c0007t0001g0035	1	347	0.0029	36	c.-45 others(47): Show c.-4565_-4564insTAGCATCTCTGGCCAGGTGGGATTATGATACCCC CC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4539		chr15	TogoVar
TUBGCP6_chr22_50212694_50250023	50235263	C C	CGGCAACA others(29): Show CGGCAACATCCACATGCCTATCCACATGCCTGTCCAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0135 a0005c0006t0002g0135	1	139	0.0072	36	c.906 others(53): Show c.906-1738_906-1737insATGGACAGGCATGTGGATAGGCATGTGG ATGTTGCC	TUBGCP6	ENSG00000128159.12	transcript	ENST00000248846.10	protein_coding	2/24			chr22	TogoVar
TUBGCP6_chr22_50212694_50250023	50235299	C C	CGGCAACA others(29): Show CGGCAACATCCACATGCCTATCCACATGCCTGTCCAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0117 a0001c0014t0002g0117	1	434	0.0023	36	c.906 others(53): Show c.906-1774_906-1773insATGGACAGGCATGTGGATAGGCATGTGG ATGTTGCC	TUBGCP6	ENSG00000128159.12	transcript	ENST00000248846.10	protein_coding	2/24			chr22	TogoVar
TULP4_chr6_158307465_158516828	158453485	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18972.hp2 HG02074.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0111 a0001c0001t0005g0086 a0001c0001t0002g0111 a0001c0001t0005g0086	2	93	0.0215	36	c.859 others(53): Show c.859+1241_859+1242insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TUSC3_chr8_15535263_15771638	15570954	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03239.hp1 HG02451.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0284 a0001c0001t0006g0175 a0001c0001t0001g0284 a0001c0001t0006g0175	2	54	0.0370	36	c.138 others(55): Show c.138+30406_138+30407insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15617120	A A	ATGTGTGT others(29): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0114	1	93	0.0108	36	c.139 others(53): Show c.139-5947_139-5946insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TVP23A_chr16_10761675_10823794	10764693	A A	ATTGGAGC others(29): Show ATTGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0012 a0001c0001t0014g0012	1	385	0.0026	36	c.43 others(47): Show c.4373_*4408dupCAGACTGACATACTCCAGCAGACTGAGATGCTCC AA	TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding		1981		chr16	TogoVar
TVP23A_chr16_10761675_10823794	10820480	A A	ATGTATAT others(29): Show ATGTATATGTATATATATATATATATATATGTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG03704.hp1 HG01255.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0253 a0001c0001t0006g0202 a0001c0001t0004g0253 a0001c0001t0006g0202	2	384	0.0052	36	c.-19 others(47): Show c.-1988_-1987insCATATACATATATATATATATATATATACATATA CA	TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding		1687		chr16	TogoVar
TWIST2_chr2_238843085_238915534	238870835	C C	CACACACA others(29): Show CACACACACCACACACACATCACATACCACACACAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00735.hp2 others(5): Show HG00140.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG01106.hp2 HG02735.hp1 HG03704.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0133 a0001c0001t0001g0199 others(5): Show a0001c0001t0001g0085 a0001c0001t0001g0133 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0252 a0001c0001t0001g0281	8	277	0.0289	36	c.35 others(55): Show c.35+22102_*35+22103insACACACACCACACACACATCACATAC CACACACAAA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXLNG_chrX_16781466_16849519	16782389	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	10	0.1000	36	c.-40 others(47): Show c.-4099_-4098insATATATATATATATATATATATATATATATATAT AT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding		4076		chrX	TogoVar
TXLNG_chrX_16781466_16849519	16830830	C C	CGTGTGTG others(29): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 NA18967.hp1 others(1): Show HG02055.hp1 HG02572.hp1 NA18967.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0019 a0001c0005t0006 a0001c0001t0001 a0001c0001t0019 a0001c0005t0006	a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0019g0088 others(1): Show a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0019g0088 a0001c0005t0006g0029	4	14	0.2857	36	c.864 others(53): Show c.864+1081_864+1116dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
TXNDC9_chr2_99313982_99341333	99338993	A A	AATATATA others(29): Show AATATATATATACAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01358.hp2 HG01070.hp2 HG01071.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	3	243	0.0123	36	c.-27 others(47): Show c.-2788_-2787insATATATATATATATATATATATTTGTATATATAT AT	TXNDC9	ENSG00000115514.12	transcript	ENST00000264255.8	protein_coding		2661		chr2	TogoVar
TXNRD1_chr12_104210779_104355307	104254640	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0111 a0001c0005t0001g0111	1	299	0.0033	36	c.243 others(53): Show c.243+2963_243+2964insTATATATATATATATATATATATATATA TATATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267241	C C	CTCTCTCT others(29): Show CTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG02683.hp2 HG02451.hp2 HG02615.hp1 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0289 a0001c0002t0001g0292 a0001c0005t0001g0119 a0001c0002t0001g0289 a0001c0002t0001g0292 a0001c0005t0001g0119	3	15	0.2000	36	c.304 others(53): Show c.304+9165_304+9166insCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267241	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01168.hp2 HG01243.hp2 others(17): Show HG00408.hp1 HG01168.hp2 HG01243.hp2 HG01257.hp1 HG02004.hp1 HG02145.hp1 HG02165.hp1 HG02523.hp1 HG02523.hp2 HG03041.hp1 HG03239.hp2 HG03688.hp2 NA18906.hp1 NA18954.hp2 NA18963.hp1 NA18973.hp2 NA18980.hp2 NA19043.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0035 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0164 a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0238 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0007g0228 a0001c0002t0001g0150 a0001c0002t0001g0280 a0001c0002t0001g0285 a0001c0002t0001g0297 a0001c0005t0001g0120	20	32	0.6250	36	c.304 others(53): Show c.304+9169_304+9204dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267283	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0213	1	296	0.0034	36	c.304 others(53): Show c.304+9204_304+9205insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCCTCT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16			chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104290720	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0280 a0001c0002t0001g0280	1	68	0.0147	36	c.414 others(53): Show c.414+1683_414+1718dupATATATATATATATATATATATATATAT ATATATAT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TYK2_chr19_10345533_10385572	10372458	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0066 a0009c0013t0002g0066	1	302	0.0033	36	c.194 others(53): Show c.194-4041_194-4040insTATATATATATATATATATATATATATA TATATATA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYK2_chr19_10345533_10385572	10372484	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0062 a0003c0004t0002g0062	1	169	0.0059	36	c.194 others(53): Show c.194-4067_194-4066insAAAATATATATATATATATATATATATA TATATATA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYMP_chr22_50520752_50535012	50524453	A A	AGAAGGGA others(29): Show AGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	410	0.0024	36	c.12 others(47): Show c.1281_*1316dupAGGGGCAGCCCAGGCACTGTCCTGGGCCTTCCCT TC	TYMP	ENSG00000025708.14	transcript	ENST00000252029.8	protein_coding		1298		chr22	TogoVar
TYMS_chr18_652653_678578	666921	A A	AGATGGTG others(29): Show AGATGGTGATGGAGATGGTGATGGTGATGGAGATGGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	398	0.0025	36	c.455 others(53): Show c.455-2140_455-2139insAGATGGTGATGGTGATGGAGATGGTGAT GGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667017	A A	AGATGGTG others(29): Show AGATGGTGATGGAGATGGTGATGGAGATGGTGATGGT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	372	0.0027	36	c.455 others(53): Show c.455-2050_455-2049insTGATGGAGATGGTGATGGAGATGGTGAT GGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667053	A A	AGATGGTG others(29): Show AGATGGTGATGGAGATGGTGATGGAGATGGTGATGGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0264 a0001c0001t0003g0264	1	357	0.0028	36	c.455 others(53): Show c.455-2014_455-2013insTGATGGAGATGGTGATGGAGATGGTGAT GGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667571	A A	AGATGGTG others(29): Show AGATGGTGATGGTGATGGTGATGGAGATGGTGATGGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	352	0.0028	36	c.455 others(53): Show c.455-1478_455-1477insAGATGGTGATGGTGATGGTGATGGTGAT GGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYW1_chr7_66991833_67244514	67210764	G G	GTCCGTCC others(29): Show GTCCGTCCATCCATCCATCCATCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01255.hp2 HG01361.hp2 others(6): Show HG00738.hp2 HG01255.hp2 HG01361.hp2 HG01943.hp2 HG02004.hp1 HG03704.hp1 HG03710.hp1 HG04184.hp2 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0003t0004 a0002c0004t0002 a0002c0003t0002 a0002c0003t0004 a0002c0004t0002	a0002c0003t0002g0225 a0002c0003t0004g0205 a0002c0003t0004g0206 others(6): Show a0002c0003t0002g0225 a0002c0003t0004g0205 a0002c0003t0004g0206 a0002c0003t0004g0207 a0002c0004t0002g0283 a0002c0004t0002g0302 a0002c0004t0002g0308 a0002c0004t0002g0309 a0002c0004t0002g0358	9	264	0.0341	36	c.197 others(57): Show c.1977+15430_1977+15431insGTCCATCCATCCATCCATCCATCC ATCCATCCATCC	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
UACA_chr15_70649554_70768558	70700301	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0211 a0003c0006t0002g0211	1	259	0.0039	36	c.79- others(49): Show c.79-642_79-641insTATATACATATATATATATATATATATATATA TATA	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70700318	T T	TATATATA others(29): Show TATATATATATGTATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0027 a0003c0006t0002g0027	1	264	0.0038	36	c.79- others(49): Show c.79-659_79-658insGTATATATATATATATATATATATACATATAT ATAT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70712051	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03130.hp1 NA18942.hp2 others(2): Show HG01123.hp1 HG03130.hp1 NA18942.hp2 NA18950.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0003t0015 a0001c0001t0001 a0001c0003t0002 a0001c0003t0015	a0001c0001t0001g0214 a0001c0001t0001g0236 a0001c0003t0002g0039 others(2): Show a0001c0001t0001g0214 a0001c0001t0001g0236 a0001c0003t0002g0039 a0001c0003t0002g0204 a0001c0003t0015g0043	5	249	0.0201	36	c.79- others(53): Show c.79-12392_79-12391insATATATATATATATATATATATATATAT ATATATAT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0015 a0001c0002t0005g0015	1	90	0.0111	36	c.124 others(55): Show c.1246-1589_1246-1588insAAAATATATATATATATATATATATA TATATATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0245 a0001c0002t0002g0245	1	90	0.0111	36	c.124 others(55): Show c.1246-1589_1246-1588insAATATATATATATATATATATATATA TATATATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0248 a0001c0002t0002g0248	1	90	0.0111	36	c.124 others(55): Show c.1246-1555_1246-1554insTATATATATATATATATATATATATA TATATATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA52_chr19_18566857_18582550	18577575	C C	CGACGGGA others(29): Show CGACGGGAGGGGGGGGCGCGGGGGGGGGGGGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0002 a0001c0001t0038g0002	1	410	0.0024	36	c.24 others(47): Show c.2425_*2426insGACGGGAGGGGGGGGCGCGGGGGGGGGGGGGGGG GT	UBA52	ENSG00000221983.8	transcript	ENST00000442744.7	protein_coding		26		chr19	TogoVar
UBAC2_chr13_99195854_99391504	99232399	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp2 HG03927.hp1 others(2): Show HG00408.hp2 HG00673.hp2 HG03927.hp1 NA18947.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0006 a0001c0001t0001g0058 a0001c0001t0001g0059 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0011g0053	5	205	0.0244	36	c.32- others(51): Show c.32-6023_32-6022insTATATATATATATATATATATATATATATA TATATA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99330458	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	16	0.0625	36	c.562 others(53): Show c.562-9844_562-9843insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAP1_chr9_34174043_34257523	34202624	C C	CCTGTGTG others(29): Show CCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA20300.hp2 HG03098.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0136 a0001c0001t0003g0096 a0001c0001t0001g0136 a0001c0001t0003g0096	2	21	0.0952	36	c.-7- others(53): Show c.-7-18284_-7-18283insCTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0348 a0001c0003t0001g0348	1	46	0.0217	36	c.-42 others(55): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT TTTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03704.hp2 HG03486.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0295 a0001c0003t0001g0352 a0001c0003t0001g0295 a0001c0003t0001g0352	2	47	0.0426	36	c.-42 others(55): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBC_chr12_124906646_124919650	124907764	T T	TATATATG others(29): Show TATATATGAATATATGAATATATATATGAATATATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	433	0.0023	36	c.39 others(47): Show c.3949_*3950insTCATATATTCATATATATATTCATATATTCATAT AT	UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding		3881		chr12	TogoVar
UBE2B_chr5_134366569_134397108	134376364	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG00408.hp1 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0134 a0001c0001t0002g0180 a0001c0001t0001g0134 a0001c0001t0002g0180	2	235	0.0085	36	c.126 others(51): Show c.126-304_126-303insTATATATATATATATATATATATATATATA TATACA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2D3_chr4_102789383_102832551	102798279	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	162	0.0062	36	c.399 others(51): Show c.399-820_399-819insATATATATATATATATATATATATATATAT ATATAT	UBE2D3	ENSG00000109332.20	transcript	ENST00000453744.7	protein_coding	7/7			chr4	TogoVar
UBE2E3_chr2_180975605_181068425	180998458	T T	TTGGGATA others(29): Show TTGGGATAAGGAGAGTGGGATAAGGAGAGTGGGATAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03579.hp1 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	336	0.0060	36	c.245 others(55): Show c.245+14365_245+14366insTGGGATAAGGAGAGTGGGATAAGGAG AGTGGGATAA	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5			chr2	TogoVar
UBE2I_chr16_1304636_1332017	1305324	G G	GTGCCTCA others(29): Show GTGCCTCAGCCTCCCCAGGAGCTGGAGTGGTGTGCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG03098.hp1 HG03098.hp2 HG00733.hp2 HG03098.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0047 a0001c0001t0001 a0001c0001t0025 a0001c0001t0047	a0001c0001t0001g0180 a0001c0001t0025g0181 a0001c0001t0047g0182 a0001c0001t0001g0180 a0001c0001t0025g0181 a0001c0001t0047g0182	3	362	0.0083	36	c.-44 others(47): Show c.-4461_-4460insTGCCTCAGCCTCCCCAGGAGCTGGAGTGGTGTGC AC	UBE2I	ENSG00000103275.22	transcript	ENST00000397514.8	protein_coding		4311		chr16	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18979.hp1 HG03710.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0051 a0001c0001t0005g0145 a0001c0001t0001g0051 a0001c0001t0005g0145	2	15	0.1333	36	c.63+ others(53): Show c.63+16161_63+16162insATATATATATATATATATATATATATTT TTTTTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2L3_chr22_21562714_21629034	21598195	A A	ATGTGTGT others(29): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18979.hp2 HG02071.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0125 a0001c0001t0002g0128	2	224	0.0089	36	c.123 others(53): Show c.123+5254_123+5255insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	UBE2L3	ENSG00000185651.16	transcript	ENST00000342192.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
UBE2N_chr12_93400684_93446947	93406275	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0236 a0001c0001t0063g0236	1	57	0.0175	36	c.37 others(47): Show c.3763_*3764insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	UBE2N	ENSG00000177889.10	transcript	ENST00000318066.7	protein_coding	4/4	3763		chr12	TogoVar
UBE2R2_chr9_33812160_33925399	33877823	G G	GTCTGTCT others(29): Show GTCTGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	216	0.0046	36	c.178 others(53): Show c.178-9055_178-9054insGTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2R2_chr9_33812160_33925399	33877823	G G	GTCTGTCT others(29): Show GTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0086 a0001c0001t0026g0086	1	216	0.0046	36	c.178 others(53): Show c.178-9055_178-9054insGTCTGTCTGTCTCTCTCTCTCTCTCTCT CTCTCTCT	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2R2_chr9_33812160_33925399	33884198	A A	ATCTCTCT others(29): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0083 a0001c0001t0012g0083	1	50	0.0200	36	c.178 others(53): Show c.178-2681_178-2646dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar

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