Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
TRIM24_chr7_138455259_138594996	138508666	TGTGTGTG others(47): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGTGTGTGCGTGTGTG TGTGC	T T	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18940.hp1 NA18939.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0184 a0001c0001t0007g0187 a0001c0001t0007g0184 a0001c0001t0007g0187	2	310	0.0065	-54	c.483 others(71): Show c.483+4285_483+4338delGCGCGCGCGTGTGTGCGTGTGTGTGTGC GTGTGTGTGTGTGTGTGTGTGTGTGT	TRIM24	ENSG00000122779.18	transcript	ENST00000343526.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
TRIM37_chr17_58993202_59111880	59102936	CATCTCTG others(47): Show CATCTCTGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTG TCTCA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	340	0.0029	-54	c.123 others(71): Show c.123+1303_123+1356delTGAGACAGGAGAATCACTTGAACCCGGG AGGCAGAGGTTGCAGTGAGCAGAGAT	TRIM37	ENSG00000108395.14	transcript	ENST00000262294.12	protein_coding	2/23			chr17	TogoVar
TRIM7_chr5_181188924_181210196	181208256	AATATTTC others(47): Show AATATTTCCTTTTTAAATTGTCTTATTTCACTTAATGTCTTCAAGATTCA TCCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00735.hp1 others(60): Show HG00408.hp1 HG00423.hp2 HG00735.hp1 HG01243.hp1 HG01257.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG02040.hp2 HG02055.hp2 HG02083.hp2 HG02258.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG04204.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18985.hp2 NA18987.hp2 NA18999.hp2 NA19005.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19068.hp2 NA19240.hp2 NA21309.hp2	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0013 a0017	a0002c0002 a0002c0006 a0002c0008 others(5): Show a0002c0002 a0002c0006 a0002c0008 a0003c0005 a0005c0004 a0005c0015 a0013c0018 a0017c0021	a0002c0002t0001 a0002c0006t0003 a0002c0008t0001 others(8): Show a0002c0002t0001 a0002c0006t0003 a0002c0008t0001 a0003c0005t0002 a0003c0005t0004 a0003c0005t0006 a0005c0004t0001 a0005c0004t0002 a0005c0015t0001 a0013c0018t0001 a0017c0021t0003	a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0006t0003g0006 others(28): Show a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0006t0003g0006 a0002c0006t0003g0046 a0002c0008t0001g0092 a0003c0005t0002g0007 a0003c0005t0002g0022 a0003c0005t0002g0113 a0003c0005t0002g0114 a0003c0005t0002g0115 a0003c0005t0002g0116 a0003c0005t0002g0119 a0003c0005t0004g0041 a0003c0005t0004g0117 a0003c0005t0006g0112 a0005c0004t0001g0005 a0005c0004t0001g0032 a0005c0004t0001g0033 a0005c0004t0001g0034 a0005c0004t0001g0035 a0005c0004t0001g0085 a0005c0004t0001g0086 a0005c0004t0001g0087 a0005c0004t0001g0088 a0005c0004t0001g0089 a0005c0004t0001g0093 a0005c0004t0002g0090 a0005c0004t0002g0091 a0005c0015t0001g0070 a0013c0018t0001g0030 a0017c0021t0003g0043	63	392	0.1607	-54	c.-32 others(65): Show c.-3200_-3147delAAGGATGAATCTTGAAGACATTAAGTGAAATAAG ACAATTTAAAAAGGAAATAT	TRIM7	ENSG00000146054.18	transcript	ENST00000274773.12	protein_coding		3061		chr5	TogoVar
TRIO_chr5_14138342_14515204	14157417	GTGTCTCC others(47): Show GTGTCTCCCTCTCTCTCCCTGTCTCCCTCTCTCTCCCTGTCTCCCTCTCT CTCCC	G G	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	126	0.0079	-54	c.157 others(73): Show c.157+13614_157+13667delCCTCTCTCTCCCTGTCTCCCTCTCTC TCCCTGTCTCCCTCTCTCTCCCTGTCTC	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14403812	AGGTTGTG others(47): Show AGGTTGTGAGGGTGCAGGTGGTGGTGAGGGTGCAGGTGGTGGTGAGGGTG CAGGT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp1 HG02922.hp2 others(1): Show HG02630.hp2 HG02809.hp1 HG02922.hp2 HG03516.hp2	a0004 a0005 a0004 a0005	a0004c0026 a0004c0032 a0005c0018 a0004c0026 a0004c0032 a0005c0018	a0004c0026t0001 a0004c0032t0001 a0005c0018t0004 a0004c0026t0001 a0004c0032t0001 a0005c0018t0004	a0004c0026t0001g0193 a0004c0032t0001g0037 a0005c0018t0004g0194 others(1): Show a0004c0026t0001g0193 a0004c0032t0001g0037 a0005c0018t0004g0194 a0005c0018t0004g0195	4	195	0.0205	-54	c.471 others(73): Show c.4717-2032_4717-1979delTGTGAGGGTGCAGGTGGTGGTGAGGG TGCAGGTGGTGGTGAGGGTGCAGGTGGT	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	31/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14511655	CTCTCTCT others(47): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATAT ATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01261.hp1 HG00738.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0198 a0001c0001t0002g0064 a0001c0001t0002g0198	2	192	0.0104	-54	c.32 others(65): Show c.3234_*3287delTCTCTCTCTCTCTCTCTCTCTCTATATATATATA TATATATATATATATATATA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		1452		chr5	TogoVar
TRPC4AP_chr20_34997404_35097807	35097505	ATGTACAC others(47): Show ATGTACACACGTGTGTATATATACATATGTACACACGTGTGTATATATAC ATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02083.hp1 NA18612.hp1 HG02074.hp2 HG02083.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0072 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0072	3	298	0.0101	-54	c.-47 others(65): Show c.-4778_-4725delCATATGTATATATACACACGTGTGTACATATGTA TATATACACACGTGTGTACA	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4699		chr20	TogoVar
TRPM4_chr19_49152792_49216836	49194016	CTCATCCT others(47): Show CTCATCCTCCTCCTGCTCCTGCTCCTCCGCCTTCTCCTCATCCTACTTCT CCTCT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01255.hp1 others(10): Show HG01070.hp1 HG01071.hp1 HG01255.hp1 HG01891.hp1 HG01891.hp2 HG02257.hp1 HG02809.hp2 HG03098.hp1 HG03195.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0004 a0002c0014 others(1): Show a0001c0012 a0002c0004 a0002c0014 a0002c0033	a0001c0012t0001 a0002c0004t0001 a0002c0004t0007 others(2): Show a0001c0012t0001 a0002c0004t0001 a0002c0004t0007 a0002c0014t0001 a0002c0033t0001	a0001c0012t0001g0296 a0001c0012t0001g0301 a0002c0004t0001g0039 others(10): Show a0001c0012t0001g0296 a0001c0012t0001g0301 a0002c0004t0001g0039 a0002c0004t0001g0040 a0002c0004t0001g0282 a0002c0004t0001g0285 a0002c0004t0001g0298 a0002c0004t0001g0299 a0002c0004t0001g0300 a0002c0004t0001g0302 a0002c0004t0007g0047 a0002c0014t0001g0278 a0002c0033t0001g0123	13	310	0.0419	-54	c.221 others(73): Show c.2211-2359_2211-2306delCCTGCTCCTGCTCCTCCGCCTTCTCC TCATCCTACTTCTCCTCTTCATCCTCCT	TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	16/24		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRPM8_chr2_233912373_234024522	233927831	CCTTCCTT others(47): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTTTCTT TCTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp1 HG02004.hp2 others(4): Show HG00741.hp2 HG01261.hp1 HG02004.hp2 HG02135.hp2 HG03710.hp2 HG03831.hp1 NA19011.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0003c0005t0001 a0003c0005t0003 a0003c0005t0006	a0001c0001t0002g0173 a0001c0001t0003g0170 a0001c0001t0005g0156 others(4): Show a0001c0001t0002g0173 a0001c0001t0003g0170 a0001c0001t0005g0156 a0001c0001t0006g0301 a0003c0005t0001g0165 a0003c0005t0003g0151 a0003c0005t0006g0306	7	312	0.0224	-54	c.117 others(71): Show c.117+1181_117+1234delCCTTCCTTCCTTCCTTCCTTTCTTTCTC TTTCTTTCTTTCTTTCTTTCTTTCTT	TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPM8_chr2_233912373_234024522	233927835	CCTTCCTT others(47): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0159 a0003c0005t0004g0159	1	303	0.0033	-54	c.117 others(71): Show c.117+1185_117+1238delCCTTCCTTCCTTCCTTTCTTTCTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTT	TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
TSPAN17_chr5_176642484_176664051	176660123	CCCACCCT others(47): Show CCCACCCTTCCTCCATCCATTCACCCATCCACCCTTCCTCCATCCATTCA CCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG02896.hp1 others(5): Show HG02622.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03209.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0003 a0001c0001t0003 a0001c0005t0003	a0001c0001t0003g0016 a0001c0001t0003g0077 a0001c0001t0003g0117 others(1): Show a0001c0001t0003g0016 a0001c0001t0003g0077 a0001c0001t0003g0117 a0001c0005t0003g0017	8	155	0.0516	-54	c.24 others(65): Show c.2426_*2479delCCACCCTTCCTCCATCCATTCACCCATCCACCCT TCCTCCATCCATTCACCCAT	TSPAN17	ENSG00000048140.18	transcript	ENST00000508164.6	protein_coding		1073		chr5	TogoVar
TSPAN9_chr12_3072379_3291559	3226712	GTATGTAT others(47): Show GTATGTATGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATAT ATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01258.hp2 HG01346.hp1 others(9): Show HG01109.hp2 HG01258.hp2 HG01346.hp1 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03195.hp2 NA18966.hp2 NA18979.hp2 NA18984.hp1 NA19065.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0020 a0001c0001t0049 a0001c0002t0043 a0001c0002t0053 a0001c0004t0058	a0001c0001t0001g0193 a0001c0001t0001g0225 a0001c0001t0005g0052 others(9): Show a0001c0001t0001g0193 a0001c0001t0001g0225 a0001c0001t0005g0052 a0001c0001t0007g0263 a0001c0001t0011g0216 a0001c0001t0017g0057 a0001c0001t0017g0058 a0001c0001t0020g0222 a0001c0001t0049g0020 a0001c0002t0043g0099 a0001c0002t0053g0066 a0001c0004t0058g0013	12	265	0.0453	-54	c.63+ others(71): Show c.63+25460_63+25513delGTATGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATATATATATAT	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TUSC3_chr8_15535263_15771638	15675254	ATCTTATA others(47): Show ATCTTATAAATTTTTGTTACTGCCTTTTAGTATTCTTCTAAGAGTATTCT TTAGG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02965.hp1 HG02486.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0357 a0001c0001t0022g0358 a0001c0001t0022g0357 a0001c0001t0022g0358	2	370	0.0054	-54	c.798 others(71): Show c.798+1420_798+1473delCTTATAAATTTTTGTTACTGCCTTTTAG TATTCTTCTAAGAGTATTCTTTAGGT	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TXNRD2_chr22_19870522_19946818	19909744	ACACACAC others(47): Show ACACACACCCACACCCTTCACACACACACACCACACACACCACACACACA CCACT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0246 a0003c0003t0001g0246	1	370	0.0027	-54	c.662 others(71): Show c.662+1579_662+1632delAGTGGTGTGTGTGTGGTGTGTGTGGTGT GTGTGTGTGAAGGGTGTGGGTGTGTG	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	8/17			chr22	TogoVar
TYMS_chr18_652653_678578	666969	TGATGGAG others(47): Show TGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAG ATGGA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18939.hp1 HG03239.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0260 a0001c0001t0005g0270 a0001c0001t0002g0260 a0001c0001t0005g0270	2	450	0.0044	-54	c.455 others(71): Show c.455-2097_455-2044delAGATGGAGATGGTGATGGTGATGGAGAT GGTGATGGTGATGGAGATGGAGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	666975	AGATGGAG others(47): Show AGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAG ATGGT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	362	0.0028	-54	c.455 others(71): Show c.455-2067_455-2014delTGATGGTGATGGAGATGGAGATGGTGAT GGAGATGGTGATGGTGATGGAGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667475	TGATGGTG others(47): Show TGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTG ATGGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	351	0.0028	-54	c.455 others(71): Show c.455-1555_455-1502delTGATGGTGATGGAGATGGTGATGGTGAT GGTGATGGAGATGGTGATGGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UBASH3B_chr11_122650722_122819473	122724598	CTGGGCCA others(47): Show CTGGGCCAGGCCTGAACTGGCTTCTTAGAGGAGGTAGTAGCATTTGATCT TAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG01081.hp1 others(12): Show HG00323.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01243.hp2 HG01261.hp2 HG02622.hp2 HG02922.hp1 HG03540.hp1 HG03579.hp2 HG03831.hp2 HG03834.hp1 NA19030.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0002c0003 a0002c0004 a0003c0010	a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 others(10): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0002t0002 a0001c0002t0011 a0001c0002t0017 a0001c0007t0003 a0001c0007t0012 a0001c0008t0001 a0002c0003t0005 a0002c0004t0008 a0003c0010t0025	a0001c0001t0006g0214 a0001c0001t0006g0219 a0001c0001t0008g0060 others(12): Show a0001c0001t0006g0214 a0001c0001t0006g0219 a0001c0001t0008g0060 a0001c0001t0009g0134 a0001c0001t0010g0006 a0001c0002t0002g0062 a0001c0002t0002g0099 a0001c0002t0011g0082 a0001c0002t0017g0192 a0001c0007t0003g0238 a0001c0007t0012g0176 a0001c0008t0001g0155 a0002c0003t0005g0210 a0002c0004t0008g0067 a0003c0010t0025g0016	15	288	0.0521	-54	c.162 others(73): Show c.162-51618_162-51565delGGCCAGGCCTGAACTGGCTTCTTAGA GGAGGTAGTAGCATTTGATCTTAAAATG	UBASH3B	ENSG00000154127.10	transcript	ENST00000284273.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
UBE2U_chr1_64198623_64272368	64239080	GGAAGAGG others(47): Show GGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02738.hp1 HG01261.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0183 a0001c0001t0001g0172 a0001c0001t0001g0183	2	269	0.0074	-54	c.596 others(71): Show c.596-2566_596-2513delGGAAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGA	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239124	AAGAAGAA others(47): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGA AGAAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19043.hp1 NA19240.hp2 HG02965.hp2 NA19043.hp1 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0009 a0003c0004t0001g0010 a0003c0004t0001g0009 a0003c0004t0001g0010	3	324	0.0093	-54	c.596 others(71): Show c.596-2526_596-2473delGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAAGAAGAAGAAGAAGAAGAAGA	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE3C_chr7_157133926_157274370	157138796	GCGCGCAC others(47): Show GCGCGCACGTCTGCAGGGCCGCGCACGTCTGCAGGGCCGCGCACGTCTGC AGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01884.hp1 HG02717.hp2 others(10): Show HG01358.hp1 HG01884.hp1 HG02717.hp2 HG02723.hp2 HG03225.hp1 HG03239.hp1 NA18950.hp2 NA18965.hp2 NA18970.hp1 NA18971.hp1 NA18992.hp2 NA19010.hp2 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0001 a0001c0002t0015 a0001c0004t0003 others(1): Show a0001c0002t0001 a0001c0002t0015 a0001c0004t0003 a0001c0005t0002	a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 others(10): Show a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0015g0198 a0001c0004t0003g0166 a0001c0004t0003g0167 a0001c0004t0003g0168 a0001c0004t0003g0169 a0001c0004t0003g0170 a0001c0004t0003g0171 a0001c0004t0003g0174 a0001c0005t0002g0144 a0001c0005t0002g0145	13	127	0.1024	-54	c.-47 others(63): Show c.-476_-423delCGCGCACGTCTGCAGGGCCGCGCACGTCTGCAGGGC CGCGCACGTCTGCAGGGC	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding		129		chr7	TogoVar
UBE3C_chr7_157133926_157274370	157254901	ATACACCT others(47): Show ATACACCTGCAGTCCCAGCGTGGTGGCGTACACCTGCAGTCCCGGCGTGG TGGCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp2 others(51): Show HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp1 HG00738.hp2 HG01081.hp1 HG01167.hp1 HG01255.hp2 HG01258.hp2 HG01346.hp2 HG01928.hp1 HG01943.hp2 HG02155.hp1 HG02293.hp2 HG02602.hp1 HG02818.hp1 HG03098.hp1 HG03209.hp1 HG04115.hp2 NA18612.hp1 NA18940.hp2 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp2 NA18960.hp1 NA18967.hp1 NA18971.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18992.hp1 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19007.hp2 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19067.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0003c0013 a0005c0018	a0001c0001t0002 a0001c0001t0019 a0001c0002t0002 others(4): Show a0001c0001t0002 a0001c0001t0019 a0001c0002t0002 a0001c0002t0025 a0001c0015t0002 a0003c0013t0002 a0005c0018t0023	a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0024 others(51): Show a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0019g0071 a0001c0002t0002g0248 a0001c0002t0025g0257 a0001c0015t0002g0034 a0003c0013t0002g0012 a0005c0018t0023g0046	54	320	0.1688	-54	c.295 others(71): Show c.2950+607_2950+660delAGCGTGGTGGCGTACACCTGCAGTCCCG GCGTGGTGGCGTACACCTGCAGTCCC	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBE3C_chr7_157133926_157274370	157264408	CACACACA others(47): Show CACACACACACACACACCTGGTACTACAGGTGTGAGCCAACATGCTCGGC CTGTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0008 a0001c0012t0008	a0001c0012t0008g0155 a0001c0012t0008g0155	1	320	0.0031	-54	c.308 others(73): Show c.3082-3143_3082-3090delAGCCAACATGCTCGGCCTGTTACACA CACACACACACCTGGTACTACAGGTGTG	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBL3_chr13_29759371_29855617	29835075	AATATATA others(47): Show AATATATAAATATAAATATATATATATATATAAATATATATATATATATA AATAT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA19077.hp1 HG02293.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0343 a0001c0001t0005g0344 a0001c0001t0005g0343 a0001c0001t0005g0344	2	379	0.0053	-54	c.27+ others(71): Show c.27+14383_27+14436delATATTTATATATATATATATATTTATAT ATATATATATATTTATATTTATATAT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBL3_chr13_29759371_29855617	29835083	AATATAAA others(47): Show AATATAAATATATATATATATATAAATATATATATATATATAAATATATA TATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03486.hp2 HG02451.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0038 a0001c0001t0002 a0001c0001t0038	a0001c0001t0002g0312 a0001c0001t0038g0331 a0001c0001t0002g0312 a0001c0001t0038g0331	2	364	0.0055	-54	c.27+ others(71): Show c.27+14375_27+14428delATATATATATATTTATATATATATATAT ATTTATATATATATATATATTTATAT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBL3_chr13_29759371_29855617	29835089	AATATATA others(47): Show AATATATATATATATATAAATATATATATATATATAAATATATATATATA TATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02970.hp1 NA19081.hp2 HG02717.hp2 HG02970.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0107 a0001c0001t0002g0311 a0001c0002t0001g0179 a0001c0001t0002g0107 a0001c0001t0002g0311 a0001c0002t0001g0179	3	294	0.0102	-54	c.27+ others(71): Show c.27+14369_27+14422delATATATATATATATATATTTATATATAT ATATATATTTATATATATATATATAT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBL3_chr13_29759371_29855617	29835107	AATATATA others(47): Show AATATATATATATATATAAATATATATATATATATATATATATATATATA TATAT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03942.hp1 HG02735.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0062 a0001c0001t0003g0050 a0001c0001t0003g0062	2	311	0.0064	-54	c.27+ others(71): Show c.27+14351_27+14404delATATATATATATATATATATATATATAT ATATATATTTATATATATATATATAT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UGCG_chr9_111891814_111940369	111911975	TATTCAAC others(47): Show TATTCAACAGGATACATATATATATTCAACAGGATACATATATATATTCA ACAGG	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0321 a0001c0004t0020g0321	1	422	0.0024	-54	c.99- others(69): Show c.99-2627_99-2574delTCAACAGGATACATATATATATTCAACAGG ATACATATATATATTCAACAGGAT	UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
ULBP1_chr6_149958943_149978715	149965105	CGAACATC others(47): Show CGAACATCGCGGCCTCCCCGAACATCGCGGTCTCCCCGAACATCGCGATC CCCCA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	438	0.0023	-54	c.85+ others(69): Show c.85+1037_85+1090delCCTCCCCGAACATCGCGGTCTCCCCGAACA TCGCGATCCCCCAGAACATCGCGG	ULBP1	ENSG00000111981.5	transcript	ENST00000229708.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
ULK4_chr3_41241599_41967103	41856537	GTATATAT others(47): Show GTATATATATATGTGTATATATATACACATATATATATGTGTATATATAT ACACA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01243.hp1 HG01515.hp1 others(7): Show HG01169.hp2 HG01243.hp1 HG01515.hp1 HG02258.hp1 HG02451.hp2 HG02896.hp1 HG03209.hp2 HG03486.hp1 NA18522.hp2 NA19043.hp1	a0001 a0003 a0020 others(1): Show a0001 a0003 a0020 a0021	a0001c0001 a0003c0003 a0003c0016 others(2): Show a0001c0001 a0003c0003 a0003c0016 a0020c0018 a0021c0019	a0001c0001t0003 a0003c0003t0001 a0003c0003t0006 others(3): Show a0001c0001t0003 a0003c0003t0001 a0003c0003t0006 a0003c0016t0001 a0020c0018t0001 a0021c0019t0003	a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0072 others(7): Show a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0072 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0062 a0003c0003t0006g0058 a0003c0016t0001g0057 a0020c0018t0001g0050 a0021c0019t0003g0071	10	67	0.1493	-54	c.165 others(75): Show c.1657-20620_1657-20567delTGTGTATATATATACACATATATA TATGTGTATATATATACACATATATATATA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	17/36			chr3	TogoVar
UMODL1_chr21_42066317_42147996	42146445	AGGCTGTG others(47): Show AGGCTGTGGTGGGAGTCAACCCTCGCATCCCATCTCTGTCCCTCTTGGGG AGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00597.hp2 others(54): Show HG00280.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01255.hp2 HG01258.hp2 HG01433.hp1 HG01975.hp1 HG02074.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02622.hp2 HG02965.hp2 HG03225.hp1 HG03453.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 NA18522.hp2 NA18940.hp1 NA18953.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18973.hp2 NA18975.hp2 NA18983.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19009.hp1 NA19011.hp1 NA19056.hp1 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0007 a0008 a0009 a0013 a0015 a0018 a0019 a0026 a0028 a0029 a0030 a0034 a0040 a0051 a0056 a0057 a0093 a0110 a0120 a0121	a0001c0001 a0001c0133 a0002c0002 others(28): Show a0001c0001 a0001c0133 a0002c0002 a0002c0005 a0002c0015 a0002c0149 a0003c0045 a0007c0006 a0007c0078 a0008c0012 a0009c0017 a0009c0018 a0013c0027 a0015c0016 a0018c0021 a0018c0184 a0019c0014 a0026c0025 a0028c0050 a0028c0087 a0029c0035 a0030c0024 a0034c0111 a0040c0058 a0051c0059 a0056c0171 a0057c0186 a0093c0162 a0110c0084 a0120c0138 a0121c0137	a0001c0001t0003 a0001c0001t0013 a0001c0133t0001 others(33): Show a0001c0001t0003 a0001c0001t0013 a0001c0133t0001 a0002c0002t0001 a0002c0002t0010 a0002c0002t0033 a0002c0005t0003 a0002c0015t0001 a0002c0015t0010 a0002c0149t0031 a0003c0045t0001 a0007c0006t0003 a0007c0078t0003 a0008c0012t0001 a0009c0017t0003 a0009c0018t0003 a0013c0027t0001 a0015c0016t0002 a0018c0021t0003 a0018c0184t0003 a0019c0014t0003 a0019c0014t0013 a0026c0025t0003 a0028c0050t0003 a0028c0087t0003 a0029c0035t0003 a0030c0024t0012 a0034c0111t0012 a0040c0058t0003 a0051c0059t0034 a0056c0171t0003 a0057c0186t0003 a0093c0162t0005 a0110c0084t0003 a0120c0138t0001 a0121c0137t0005	a0001c0001t0003g0009 a0001c0001t0003g0179 a0001c0001t0003g0294 others(51): Show a0001c0001t0003g0009 a0001c0001t0003g0179 a0001c0001t0003g0294 a0001c0001t0013g0178 a0001c0133t0001g0239 a0002c0002t0001g0330 a0002c0002t0001g0386 a0002c0002t0010g0003 a0002c0002t0010g0041 a0002c0002t0010g0042 a0002c0002t0033g0067 a0002c0005t0003g0049 a0002c0015t0001g0129 a0002c0015t0010g0053 a0002c0149t0031g0365 a0003c0045t0001g0117 a0007c0006t0003g0033 a0007c0006t0003g0186 a0007c0006t0003g0189 a0007c0006t0003g0248 a0007c0006t0003g0252 a0007c0006t0003g0253 a0007c0078t0003g0338 a0008c0012t0001g0046 a0009c0017t0003g0326 a0009c0017t0003g0327 a0009c0018t0003g0319 a0013c0027t0001g0154 a0015c0016t0002g0128 a0018c0021t0003g0210 a0018c0021t0003g0351 a0018c0021t0003g0352 a0018c0184t0003g0172 a0019c0014t0003g0150 a0019c0014t0003g0175 a0019c0014t0003g0182 a0019c0014t0013g0152 a0019c0014t0013g0153 a0026c0025t0003g0034 a0028c0050t0003g0147 a0028c0087t0003g0231 a0029c0035t0003g0292 a0030c0024t0012g0011 a0030c0024t0012g0360 a0034c0111t0012g0275 a0040c0058t0003g0039 a0040c0058t0003g0040 a0051c0059t0034g0357 a0056c0171t0003g0296 a0057c0186t0003g0174 a0093c0162t0005g0265 a0110c0084t0003g0249 a0120c0138t0001g0072 a0121c0137t0005g0162	57	301	0.1894	-54	c.43 others(65): Show c.4372_*4425delGGCTGTGGTGGGAGTCAACCCTCGCATCCCATCT CTGTCCCTCTTGGGGAGGAG	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding		3450		chr21	TogoVar
UMODL1_chr21_42066317_42147996	42146745	TGTCTCTG others(47): Show TGTCTCTGTCCCTCCTGGGGAGGAGGGGTGCAGTGGGAGTCAATCCCCGC ATCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18949.hp1 NA18940.hp2 NA18949.hp1	a0007 a0009 a0007 a0009	a0007c0006 a0009c0017 a0007c0006 a0009c0017	a0007c0006t0016 a0009c0017t0016 a0007c0006t0016 a0009c0017t0016	a0007c0006t0016g0167 a0009c0017t0016g0287 a0007c0006t0016g0167 a0009c0017t0016g0287	2	398	0.0050	-54	c.46 others(65): Show c.4672_*4725delGTCTCTGTCCCTCCTGGGGAGGAGGGGTGCAGTG GGAGTCAATCCCCGCATCCC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding		3750		chr21	TogoVar
UNC93A_chr6_167286315_167321014	167295457	CCCTCGTG others(47): Show CCCTCGTGCTCCTCGCCTCCCTCGTGAACCTCGCCTCCCTCGTGATCCTC GCCTG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02135.hp1 HG02155.hp1 others(3): Show HG00597.hp2 HG02135.hp1 HG02155.hp1 HG03098.hp1 NA18522.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0013 a0005c0010 a0001c0001 a0001c0013 a0005c0010	a0001c0001t0001 a0001c0013t0001 a0005c0010t0004 a0001c0001t0001 a0001c0013t0001 a0005c0010t0004	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0105 others(3): Show a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0105 a0001c0013t0001g0319 a0001c0013t0001g0320 a0005c0010t0004g0317	6	368	0.0163	-54	c.270 others(69): Show c.270-557_270-504delCCCTCGTGAACCTCGCCTCCCTCGTGATCC TCGCCTGCCTCGTGCTCCTCGCCT	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295519	CTCCTCGC others(47): Show CTCCTCGCCTGCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTCCCT CGTGA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03831.hp1 HG03927.hp1 others(1): Show HG03239.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0005 a0001c0001t0002 a0002c0002t0005	a0001c0001t0002g0002 a0001c0001t0002g0167 a0002c0002t0005g0001 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0167 a0002c0002t0005g0001 a0002c0002t0005g0042	4	404	0.0099	-54	c.270 others(69): Show c.270-459_270-406delATCCTCGCCTGCCTCGTGCTCCTCGCCTCC CTCGTGCTCCTCGCCTCCCTCGTG	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295609	CTCCTCGC others(47): Show CTCCTCGCCTCCCTCGTGCTCCTCGCCTGCCTCGTGCTCCTCGCCTCCCT CGTGA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03486.hp2 HG01109.hp2 HG03486.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0005 a0005c0016t0005	a0005c0016t0005g0026 a0005c0016t0005g0026	2	415	0.0048	-54	c.270 others(69): Show c.270-413_270-360delCCCTCGTGCTCCTCGCCTGCCTCGTGCTCC TCGCCTCCCTCGTGATCCTCGCCT	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295619	CCCTCGTG others(47): Show CCCTCGTGCTCCTCGCCTGCCTCGTGCTCCTCGCCTCCCTCGTGATCCTC GCCTG	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02074.hp1 HG02080.hp1 others(10): Show HG02004.hp2 HG02074.hp1 HG02080.hp1 HG03516.hp2 NA18951.hp1 NA18956.hp2 NA18960.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp2 NA18991.hp2 NA19064.hp1 NA19065.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0010 a0024	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0007c0006 a0010c0014 a0024c0025	a0001c0001t0001 a0002c0002t0004 a0003c0003t0003 others(3): Show a0001c0001t0001 a0002c0002t0004 a0003c0003t0003 a0007c0006t0001 a0010c0014t0001 a0024c0025t0003	a0001c0001t0001g0009 a0001c0001t0001g0314 a0002c0002t0004g0309 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0314 a0002c0002t0004g0309 a0003c0003t0003g0308 a0003c0003t0003g0311 a0003c0003t0003g0313 a0003c0003t0003g0315 a0007c0006t0001g0310 a0010c0014t0001g0316 a0024c0025t0003g0227	13	397	0.0327	-54	c.270 others(69): Show c.270-369_270-316delATCCTCGCCTGCCTCGTGCTCCTCGCCTGC CTCGTGCTCCTCGCCTCCCTCGTG	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNK_chr17_75779806_75830799	75803035	GGCGGATC others(47): Show GGCGGATCACGAGGTCAGGAGATTGAGACCACCCTGGCCAACATGGTGAA ACCTC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02717.hp1 HG02976.hp2 others(2): Show HG00673.hp2 HG02717.hp1 HG02976.hp2 NA18942.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0002 a0001c0003t0004 a0001c0001t0008 a0001c0003t0002 a0001c0003t0004	a0001c0001t0008g0270 a0001c0003t0002g0234 a0001c0003t0002g0243 others(2): Show a0001c0001t0008g0270 a0001c0003t0002g0234 a0001c0003t0002g0243 a0001c0003t0002g0264 a0001c0003t0004g0168	5	356	0.0140	-54	c.105 others(71): Show c.105-6723_105-6670delCGGATCACGAGGTCAGGAGATTGAGACC ACCCTGGCCAACATGGTGAAACCTCG	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
USF2_chr19_35263962_35284821	35283164	CTACGCCG others(47): Show CTACGCCGTGTGGAGTCTTATTCTAGACAGTGGGGACGAGGCCATGAACA AGGTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	424	0.0024	-54	c.39 others(65): Show c.3909_*3962delTACGCCGTGTGGAGTCTTATTCTAGACAGTGGGG ACGAGGCCATGAACAAGGTA	USF2	ENSG00000105698.16	transcript	ENST00000222305.8	protein_coding		3344		chr19	TogoVar
USH2A_chr1_215617891_216428448	215836488	TTATATAT others(47): Show TTATATATATAATATATATTATATATATATAATATATATTATATATATAT ATATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03486.hp2 HG01081.hp2 HG03486.hp2	a0008 a0055 a0008 a0055	a0008c0037 a0055c0047 a0008c0037 a0055c0047	a0008c0037t0001 a0055c0047t0003 a0008c0037t0001 a0055c0047t0003	a0008c0037t0001g0033 a0055c0047t0003g0017 a0008c0037t0001g0033 a0055c0047t0003g0017	2	47	0.0426	-54	c.937 others(73): Show c.9371+1449_9371+1502delTATATATATATATATAATATATATTA TATATATATAATATATATTATATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	47/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	215912461	ATATATAT others(47): Show ATATATATATATATACGTATATATATATATGTGTATATATATATATATAT ACGTG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0052 a0052	a0052c0010 a0052c0010	a0052c0010t0012 a0052c0010t0012	a0052c0010t0012g0014 a0052c0010t0012g0014	1	72	0.0139	-54	c.730 others(75): Show c.7301-11610_7301-11557delCACGTATATATATATATATATACA CATATATATATATACGTATATATATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	38/71			chr1	TogoVar
USP3_chr15_63499593_63599633	63547722	TAGAGAGA others(47): Show TAGAGAGAGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGAGAGAGA GAGAG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03540.hp1 HG02630.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0079 a0001c0001t0012g0080 a0001c0001t0012g0079 a0001c0001t0012g0080	2	195	0.0103	-54	c.285 others(71): Show c.285-5970_285-5917delGGAGGGAGGGAGGGAGGGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAG	USP3	ENSG00000140455.17	transcript	ENST00000380324.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
USP40_chr2_233470526_233571782	233567994	TTATAGTT others(47): Show TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0149 a0003c0003t0002g0149	1	303	0.0033	-54	c.-13 others(65): Show c.-1384_-1331delTAATCTTATATAAGGTTATATAACTATAATCTTA TATAAGGTTATATAACTATA	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		1213		chr2	TogoVar
VAMP1_chr12_6457237_6475677	6465360	ATATATAT others(47): Show ATATATATATATAAATGTATATATATGTATATATATATATAAATGTATAT ATATG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02897.hp2 others(4): Show HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03209.hp1 HG03486.hp2 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0026 a0001c0002t0005 a0001c0002t0026	a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0026g0083 a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0026g0083	7	444	0.0158	-54	c.288 others(69): Show c.288+428_289-420delCATATATATACATTTATATATATATATACA TATATATACATTTATATATATATA	VAMP1	ENSG00000139190.17	transcript	ENST00000396308.4	protein_coding	3/4			chr12	TogoVar
VAV2_chr9_133756894_133997324	133991430	GGCCAGGA others(47): Show GGCCAGGACTGGGGCCAAGTGGCCCTGGGGATCCTCGAGGCGGCTCGACC CGGGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0007 a0001c0013t0007	a0001c0013t0007g0096 a0001c0013t0007g0096	1	198	0.0051	-54	c.204 others(69): Show c.204+591_204+644delTCCCGGGTCGAGCCGCCTCGAGGATCCCCA GGGCCACTTGGCCCCAGTCCTGGC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	1/29			chr9	TogoVar
VCX3B_chrX_8459830_8471510	8466885	GGAGGGAG others(47): Show GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGT GGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0007 a0005c0004t0007	a0005c0004t0007g0001 a0005c0004t0007g0001	1	270	0.0037	-54	c.50 others(63): Show c.503_*556delGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		376		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467042	AGGGAGGA others(47): Show AGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGT GTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0022 a0022	a0022c0037 a0022c0037	a0022c0037t0004 a0022c0037t0004	a0022c0037t0004g0002 a0022c0037t0004g0002	1	261	0.0038	-54	c.66 others(63): Show c.660_*713delGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGAGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		533		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467071	AGGGAGGG others(47): Show AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01261.hp1 HG02148.hp2 others(1): Show HG00558.hp2 HG01261.hp1 HG02148.hp2 NA18942.hp1	a0001 a0008 a0023 a0001 a0008 a0023	a0001c0001 a0008c0007 a0023c0033 a0001c0001 a0008c0007 a0023c0033	a0001c0001t0004 a0008c0007t0004 a0023c0033t0004 a0001c0001t0004 a0008c0007t0004 a0023c0033t0004	a0001c0001t0004g0002 a0008c0007t0004g0002 a0023c0033t0004g0002 a0001c0001t0004g0002 a0008c0007t0004g0002 a0023c0033t0004g0002	4	267	0.0150	-54	c.68 others(63): Show c.689_*742delGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		562		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467100	AGGGAGGG others(47): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 NA20129.hp2 HG02922.hp2 NA20129.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0019 a0001c0001 a0019c0019	a0001c0001t0010 a0019c0019t0010 a0001c0001t0010 a0019c0019t0010	a0001c0001t0010g0018 a0019c0019t0010g0018 a0001c0001t0010g0018 a0019c0019t0010g0018	2	267	0.0075	-54	c.71 others(63): Show c.718_*771delGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		591		chrX	TogoVar
VDR_chr12_47836537_47909994	47859878	CTTCCTTC others(47): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTTC TTTCT	C C	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0184 a0002c0002t0019g0184	1	353	0.0028	-54	c.278 others(71): Show c.278-2244_278-2191delAGAAAGAAAAAGAAAGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAA	VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	4/9			chr12	TogoVar
VDR_chr12_47836537_47909994	47859886	CTTCCTTC others(47): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTTCTTTCTTTC TTTCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp1 HG03130.hp2 others(1): Show HG02486.hp2 HG02976.hp1 HG03130.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0011 a0001c0015t0011 a0001c0001t0011 a0001c0015t0011	a0001c0001t0011g0211 a0001c0001t0011g0212 a0001c0001t0011g0213 others(1): Show a0001c0001t0011g0211 a0001c0001t0011g0212 a0001c0001t0011g0213 a0001c0015t0011g0214	4	351	0.0114	-54	c.278 others(71): Show c.278-2252_278-2199delAGAAAGAAAGAAAGAAAAAGAAAGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAA	VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	4/9			chr12	TogoVar

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