Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TTLL6_chr17_48757234_48822229	48810780	TGTATATA others(27): Show TGTATATATATATAGTACATATATACACATATATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01175.hp1 others(3): Show HG00642.hp1 HG00735.hp1 HG01175.hp1 HG03239.hp1 HG03834.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0115 a0002c0002t0001g0028 a0002c0002t0001g0036 others(3): Show a0001c0001t0003g0115 a0002c0002t0001g0028 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0062	6	330	0.0182	-34	c.104 others(51): Show c.104-5823_104-5790delTATATATGTGTATATATGTACTATATAT ATATAC	TTLL6	ENSG00000170703.16	transcript	ENST00000393382.8	protein_coding	1/15			chr17	TogoVar
TTLL6_chr17_48757234_48822229	48810791	ATAGTACA others(27): Show ATAGTACATATATACACATATATAGTATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG01070.hp2 others(27): Show HG00099.hp1 HG00140.hp2 HG01070.hp2 HG01168.hp2 HG01256.hp1 HG01258.hp1 HG01891.hp2 HG01993.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG03834.hp2 HG04184.hp2 HG04204.hp2 NA18906.hp1 NA18940.hp2 NA18944.hp2 NA18952.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18990.hp2 NA18991.hp1 NA18999.hp2 NA19006.hp2 NA19066.hp1 NA19068.hp1 NA20300.hp2 NA20805.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0002 a0004c0004 a0006c0008 a0002c0002 a0004c0004 a0006c0008	a0002c0002t0001 a0002c0002t0006 a0004c0004t0001 others(1): Show a0002c0002t0001 a0002c0002t0006 a0004c0004t0001 a0006c0008t0003	a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0018 others(27): Show a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0027 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0057 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0074 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0006g0045 a0004c0004t0001g0084 a0004c0004t0001g0092 a0006c0008t0003g0139 a0006c0008t0003g0142	30	330	0.0909	-34	c.104 others(51): Show c.104-5834_104-5801delCACACACATACTATATATGTGTATATAT GTACTA	TTLL6	ENSG00000170703.16	transcript	ENST00000393382.8	protein_coding	1/15			chr17	TogoVar
TUBD1_chr17_59854479_59897943	59891404	GGATTACA others(27): Show GGATTACAGGCTTGAGCCACCACGCCCGGCCCAAA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0021 a0002c0001t0001g0021	1	360	0.0028	-34	c.-39 others(49): Show c.-39-397_-39-364delTTTGGGCCGGGCGTGGTGGCTCAAGCCTGT AATC	TUBD1	ENSG00000108423.15	transcript	ENST00000325752.8	protein_coding	1/8			chr17	TogoVar
TUT4_chr1_52418275_52558092	52498902	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG03098.hp2 others(2): Show HG01891.hp1 HG02145.hp1 HG03098.hp2 NA19043.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0005 a0001c0001 a0001c0007 a0002c0005	a0001c0001t0001 a0001c0007t0001 a0002c0005t0001 a0001c0001t0001 a0001c0007t0001 a0002c0005t0001	a0001c0001t0001g0003 a0001c0007t0001g0167 a0002c0005t0001g0165 others(2): Show a0001c0001t0001g0003 a0001c0007t0001g0167 a0002c0005t0001g0165 a0002c0005t0001g0169 a0002c0005t0001g0170	5	250	0.0200	-34	c.100 others(53): Show c.1000-1753_1000-1720delTATATATATATATATATATATATATA TATATATA	TUT4	ENSG00000134744.14	transcript	ENST00000257177.9	protein_coding	4/29			chr1	TogoVar
TXNL4A_chr18_79965813_79993563	79982305	TTCTAAGA others(27): Show TTCTAAGAAAGCAGGAATTGAAGAGTTCAGTTTTG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0104	1	390	0.0026	-34	c.154 others(51): Show c.154-4638_154-4605delCAAAACTGAACTCTTCAATTCCTGCTTT CTTAGA	TXNL4A	ENSG00000141759.15	transcript	ENST00000269601.10	protein_coding	1/2			chr18	TogoVar
TXNL4A_chr18_79965813_79993563	79988580	ACGCCGTG others(27): Show ACGCCGTGCGTGCTGACGGCATGCGCGCGCGCTAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	390	0.0026	-34	c.-22 others(43): Show c.-222_-189delCTAGCGCGCGCGCATGCCGTCAGCACGCACGGCG	TXNL4A	ENSG00000141759.15	transcript	ENST00000269601.10	protein_coding		18		chr18	TogoVar
TYMS_chr18_652653_678578	667267	GGTGATGG others(27): Show GGTGATGGTGATGGGATGGTGATGGAGATGGTGAT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0195 a0001c0001t0009g0195	1	482	0.0021	-34	c.455 others(51): Show c.455-1803_455-1770delTGATGGTGATGGGATGGTGATGGAGATG GTGATG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYSND1_chr10_70132981_70151700	70133098	AAGAGAGA others(27): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00673.hp2 others(116): Show HG00423.hp1 HG00597.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01106.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01516.hp2 HG01517.hp1 HG02015.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18999.hp2 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0011 a0016 a0017	a0001c0002 a0001c0003 a0001c0005 others(9): Show a0001c0002 a0001c0003 a0001c0005 a0002c0001 a0003c0004 a0004c0006 a0006c0008 a0008c0012 a0009c0011 a0011c0022 a0016c0015 a0017c0014	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(22): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0018 a0001c0002t0019 a0001c0002t0021 a0001c0003t0002 a0001c0003t0013 a0001c0005t0005 a0002c0001t0001 a0002c0001t0002 a0002c0001t0009 a0002c0001t0015 a0003c0004t0006 a0003c0004t0027 a0004c0006t0002 a0004c0006t0004 a0006c0008t0004 a0008c0012t0004 a0009c0011t0002 a0011c0022t0028 a0016c0015t0013 a0017c0014t0007	a0001c0002t0001g0089 a0001c0002t0002g0002 a0001c0002t0002g0004 others(39): Show a0001c0002t0001g0089 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0014 a0001c0002t0002g0018 a0001c0002t0002g0039 a0001c0002t0002g0079 a0001c0002t0002g0081 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0087 a0001c0002t0004g0007 a0001c0002t0004g0092 a0001c0002t0005g0030 a0001c0002t0007g0019 a0001c0002t0018g0044 a0001c0002t0019g0083 a0001c0002t0019g0095 a0001c0002t0021g0040 a0001c0003t0002g0005 a0001c0003t0002g0017 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0013g0071 a0001c0005t0005g0010 a0001c0005t0005g0011 a0002c0001t0001g0001 a0002c0001t0001g0021 a0002c0001t0001g0115 a0002c0001t0002g0114 a0002c0001t0009g0022 a0002c0001t0015g0033 a0003c0004t0006g0008 a0003c0004t0027g0058 a0004c0006t0002g0020 a0004c0006t0004g0091 a0006c0008t0004g0024 a0008c0012t0004g0041 a0009c0011t0002g0037 a0011c0022t0028g0120 a0016c0015t0013g0061 a0017c0014t0007g0055	119	458	0.2598	-34	c.67 others(45): Show c.6792_*6825delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	TYSND1	ENSG00000156521.14	transcript	ENST00000287078.7	protein_coding		4882		chr10	TogoVar
U2AF1_chr21_43087956_43112570	43092889	TGACTAGC others(27): Show TGACTAGCAGATTTATAAAGAAAAAGAAATTTAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03688.hp2 HG03491.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	150	0.0133	-34	c.17 others(43): Show c.179_*212delTTTAAATTTCTTTTTCTTTATAAATCTGCTAGTC	U2AF1	ENSG00000160201.12	transcript	ENST00000291552.9	protein_coding		66		chr21	TogoVar
UBAC2_chr13_99195854_99391504	99391433	GAGGCTCC others(27): Show GAGGCTCCTACTTGGAGATCACCCAAATGCAAACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	380	0.0026	-34	c.60 others(45): Show c.6099_*6132delAGGCTCCTACTTGGAGATCACCCAAATGCAAACC	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding		4930		chr13	TogoVar
UBAP1_chr9_34174043_34257523	34182643	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(70): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02129.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02895.hp2 HG03098.hp2 HG03471.hp2 HG03491.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp1 HG04204.hp2 HG06807.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18957.hp2 NA18962.hp2 NA18966.hp2 NA18975.hp1 NA18983.hp2 NA18988.hp1 NA19002.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19066.hp2 NA19067.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(70): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0340	73	342	0.2135	-34	c.-8+ others(49): Show c.-8+3405_-8+3438delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP2_chr9_33916693_34053887	33981230	TATATATA others(27): Show TATATATATATTCTGGATATATATATATATTCTGG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0067 a0002c0001t0008g0067	1	356	0.0028	-34	c.520 others(51): Show c.520+5496_520+5529delCCAGAATATATATATATATCCAGAATAT ATATAT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBE2G1_chr17_4264259_4371675	4279785	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(103): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00597.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03942.hp1 NA18939.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18988.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp2 NA19011.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(8): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0020 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038	a0001c0001t0002g0029 a0001c0001t0002g0153 a0001c0001t0002g0156 others(103): Show a0001c0001t0002g0029 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0008g0154 a0001c0001t0008g0184 a0001c0001t0008g0188 a0001c0001t0008g0195 a0001c0001t0008g0210 a0001c0001t0008g0249 a0001c0001t0009g0155 a0001c0001t0009g0220 a0001c0001t0009g0224 a0001c0001t0009g0225 a0001c0001t0009g0232 a0001c0001t0010g0205 a0001c0001t0016g0001 a0001c0001t0020g0218 a0001c0001t0029g0192 a0001c0001t0033g0231 a0001c0001t0034g0157 a0001c0001t0037g0191 a0001c0001t0038g0270	106	272	0.3897	-34	c.37 others(51): Show c.37+2979_*37+3012delTATATATATATATATATATATATATATA TATATA	UBE2G1	ENSG00000132388.13	transcript	ENST00000396981.7	protein_coding	5/5			chr17	TogoVar
UBE2O_chr17_76384456_76458152	76415914	CATGCACA others(27): Show CATGCACATACACGTATATACGTATGCGTATACAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01175.hp2 HG02074.hp1 others(9): Show HG01074.hp2 HG01175.hp2 HG02074.hp1 HG02148.hp1 HG03239.hp1 HG03704.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA19068.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0252 a0001c0001t0002g0228 a0001c0001t0002g0339 others(9): Show a0001c0001t0001g0252 a0001c0001t0002g0228 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0005g0341 a0001c0001t0005g0342 a0001c0001t0005g0345 a0001c0001t0005g0346	12	364	0.0330	-34	c.418 others(53): Show c.418-10376_418-10343delATGTATACGCATACGTATATACGTGT ATGTGCAT	UBE2O	ENSG00000175931.13	transcript	ENST00000319380.12	protein_coding	1/17			chr17	TogoVar
UBE2U_chr1_64198623_64272368	64239123	GAAGAAGA others(27): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18522.hp2 HG01081.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0305 a0002c0003t0002g0214 a0001c0001t0002g0305 a0002c0003t0002g0214	2	330	0.0061	-34	c.596 others(51): Show c.596-2491_596-2458delAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAAG	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE3A_chr15_25328728_25444024	25430253	TATATATA others(27): Show TATATATATAATACATATATAAGATTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01099.hp1 others(15): Show HG00323.hp2 HG00741.hp1 HG01099.hp1 HG01255.hp2 HG02258.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp2 HG04184.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0002t0010 a0001c0002t0018 a0001c0002t0035	a0001c0001t0001g0192 a0001c0001t0003g0001 a0001c0001t0003g0189 others(14): Show a0001c0001t0001g0192 a0001c0001t0003g0001 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0257 a0001c0001t0013g0246 a0001c0001t0013g0256 a0001c0002t0010g0134 a0001c0002t0010g0137 a0001c0002t0010g0138 a0001c0002t0010g0139 a0001c0002t0010g0143 a0001c0002t0018g0142 a0001c0002t0018g0144 a0001c0002t0018g0145 a0001c0002t0035g0141	18	298	0.0604	-34	c.-16 others(53): Show c.-165+8202_-165+8235delTATATATATAATCTTATATATGTATT ATATATAT	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12			chr15	TogoVar
UBL3_chr13_29759371_29855617	29788858	TGTGTGTG others(27): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCACGCGCAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00609.hp1 others(36): Show HG00140.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01952.hp1 HG02071.hp1 HG02083.hp2 HG02155.hp2 HG02615.hp1 HG03654.hp1 HG03710.hp1 HG04184.hp1 HG04204.hp2 NA18612.hp1 NA18946.hp1 NA18947.hp1 NA18954.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA19002.hp1 NA19060.hp2 NA19067.hp1 NA19070.hp2 NA19089.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0029 a0001c0001t0002 a0001c0001t0004 a0001c0001t0029	a0001c0001t0002g0160 a0001c0001t0004g0007 a0001c0001t0004g0149 others(35): Show a0001c0001t0002g0160 a0001c0001t0004g0007 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0029g0102	39	392	0.0995	-34	c.28- others(51): Show c.28-11629_28-11596delGTGCGCGTGCGCGCGCGCGCGCACACAC ACACAC	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBL3_chr13_29759371_29855617	29835075	AATATATA others(27): Show AATATATAAATATAAATATATATATATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0345 a0001c0001t0005g0345	1	392	0.0026	-34	c.27+ others(51): Show c.27+14403_27+14436delATTTATATATATATATATATTTATATTT ATATAT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBL3_chr13_29759371_29855617	29835083	AATATAAA others(27): Show AATATAAATATATATATATATATAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0336 a0001c0001t0005g0336	1	392	0.0026	-34	c.27+ others(51): Show c.27+14395_27+14428delATATATATATTTATATATATATATATAT TTATAT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBL3_chr13_29759371_29855617	29835091	TATATATA others(27): Show TATATATATATATATAAATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01433.hp1 HG01943.hp1 others(6): Show HG01256.hp2 HG01433.hp1 HG01943.hp1 HG01975.hp2 HG02129.hp2 HG03942.hp2 NA19082.hp1 NA19090.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0039 a0001c0001t0002 a0001c0001t0039	a0001c0001t0002g0250 a0001c0001t0002g0273 a0001c0001t0002g0275 others(6): Show a0001c0001t0002g0250 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0286 a0001c0001t0002g0290 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0318 a0001c0001t0039g0256	9	392	0.0230	-34	c.27+ others(51): Show c.27+14387_27+14420delTTATATATATATATATATTTATATATAT ATATAT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBL3_chr13_29759371_29855617	29835107	AATATATA others(27): Show AATATATATATATATATAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	392	0.0026	-34	c.27+ others(51): Show c.27+14371_27+14404delATATATATATATATATTTATATATATAT ATATAT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBP1_chr3_33383336_33445405	33426006	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18951.hp2 NA18957.hp2 others(6): Show HG02083.hp1 NA18951.hp2 NA18957.hp2 NA18962.hp1 NA18965.hp2 NA18974.hp1 NA19000.hp1 NA19079.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0030 a0001c0001t0002g0036 others(6): Show a0001c0001t0002g0020 a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0098	9	352	0.0256	-34	c.114 others(49): Show c.114-299_114-266delCTATATATATATATATATATATATATATAT ATAT	UBP1	ENSG00000153560.12	transcript	ENST00000283629.8	protein_coding	1/15			chr3	TogoVar
UCHL3_chr13_75544791_75611020	75564929	CAGATGAT others(27): Show CAGATGATCCACCCCCTTCAGCCTCCCAAAGTGCT	C C	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	326	0.0031	-34	c.184 others(51): Show c.184-1765_184-1732delAGATGATCCACCCCCTTCAGCCTCCCAA AGTGCT	UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	3/8			chr13	TogoVar
UGT2B11_chr4_69194951_69219748	69195464	CTCAATTA others(27): Show CTCAATTACATTGAGCATTGTTTACTTTAAACTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0124 a0001c0001t0024g0124	1	410	0.0024	-34	c.49 others(45): Show c.4942_*4975delAAAGTTTAAAGTAAACAATGCTCAATGTAATTGA	UGT2B11	ENSG00000213759.10	transcript	ENST00000446444.2	protein_coding		4486		chr4	TogoVar
UHRF2_chr9_6408199_6512054	6488251	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp2 NA18950.hp2 others(1): Show HG02258.hp2 HG02717.hp2 NA18950.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0295 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0295 a0001c0001t0001g0300	4	318	0.0126	-34	c.149 others(53): Show c.1497+1349_1497+1382delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
UMODL1_chr21_42066317_42147996	42077002	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02559.hp2 others(17): Show HG01884.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03516.hp1 NA18906.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0002 a0013 a0025 others(11): Show a0002 a0013 a0025 a0035 a0037 a0043 a0059 a0080 a0081 a0084 a0104 a0106 a0124 a0125	a0002c0005 a0002c0129 a0013c0019 others(13): Show a0002c0005 a0002c0129 a0013c0019 a0025c0029 a0035c0035 a0037c0172 a0043c0116 a0043c0117 a0059c0168 a0080c0115 a0081c0114 a0084c0119 a0104c0148 a0106c0133 a0124c0145 a0125c0144	a0002c0005t0001 a0002c0129t0001 a0013c0019t0006 others(14): Show a0002c0005t0001 a0002c0129t0001 a0013c0019t0006 a0013c0019t0021 a0025c0029t0001 a0035c0035t0001 a0037c0172t0001 a0043c0116t0001 a0043c0117t0001 a0059c0168t0020 a0080c0115t0002 a0081c0114t0001 a0084c0119t0013 a0104c0148t0042 a0106c0133t0033 a0124c0145t0001 a0125c0144t0025	a0002c0005t0001g0155 a0002c0129t0001g0276 a0013c0019t0006g0061 others(16): Show a0002c0005t0001g0155 a0002c0129t0001g0276 a0013c0019t0006g0061 a0013c0019t0021g0277 a0025c0029t0001g0004 a0025c0029t0001g0278 a0035c0035t0001g0154 a0035c0035t0001g0280 a0037c0172t0001g0071 a0043c0116t0001g0152 a0043c0117t0001g0230 a0059c0168t0020g0150 a0080c0115t0002g0153 a0081c0114t0001g0151 a0084c0119t0013g0279 a0104c0148t0042g0379 a0106c0133t0033g0070 a0124c0145t0001g0069 a0125c0144t0025g0156	20	400	0.0500	-34	c.319 others(49): Show c.319+787_319+820delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42100727	GTGCCCTC others(27): Show GTGCCCTCCTCACCCTCCCCACCCCAGCAACCCCA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0003 a0003	a0003c0046 a0003c0046	a0003c0046t0001 a0003c0046t0001	a0003c0046t0001g0087 a0003c0046t0001g0087	1	400	0.0025	-34	c.118 others(53): Show c.1187-1413_1187-1380delGCAACCCCATGCCCTCCTCACCCTCC CCACCCCA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42100753	GCAACCCC others(27): Show GCAACCCCATGCCCTCCTCACCCTCCCCACCCCAC	G G	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0301 a0003c0003t0001g0301	1	400	0.0025	-34	c.118 others(53): Show c.1187-1406_1187-1373delCATGCCCTCCTCACCCTCCCCACCCC ACCAACCC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42100821	GCAACCCC others(27): Show GCAACCCCGTGCCCTCCTCACCCTCCCCACCCCAC	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA19000.hp1 HG01358.hp2 NA19000.hp1	a0033 a0069 a0033 a0069	a0033c0088 a0069c0082 a0033c0088 a0069c0082	a0033c0088t0004 a0069c0082t0019 a0033c0088t0004 a0069c0082t0019	a0033c0088t0004g0233 a0069c0082t0019g0330 a0033c0088t0004g0233 a0069c0082t0019g0330	2	400	0.0050	-34	c.118 others(53): Show c.1187-1279_1187-1246delCACCAACCCCGTGCCCTCCTCACCCT CCCCACCC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC13C_chr15_53973441_54633605	54075414	GCGGAGCT others(27): Show GCGGAGCTTGCAGTGAGCCGGAGCTTGCAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02129.hp1 HG01255.hp2 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0027 a0001c0001t0002 a0001c0006t0027	a0001c0001t0002g0102 a0001c0006t0027g0052 a0001c0001t0002g0102 a0001c0006t0027g0052	2	158	0.0127	-34	c.298 others(55): Show c.2983+59582_2983+59615delGAGCTTGCAGTGAGCCGGAGCTTG CAGTGAGCCG	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176870984	GCTCGCCC others(27): Show GCTCGCCCCACACCACAGCTTCCCATCTGCCCACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00558.hp2 others(165): Show HG00099.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18954.hp1 NA18954.hp2 NA18963.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19074.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0007 others(4): Show a0001c0001 a0001c0005 a0001c0007 a0001c0009 a0002c0002 a0003c0003 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0005t0002 a0001c0007t0001 a0001c0009t0001 a0002c0002t0001 a0002c0002t0004 a0003c0003t0001 a0004c0006t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(160): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0200 a0001c0001t0002g0248 a0001c0001t0002g0257 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0065 a0001c0001t0003g0074 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0111 a0001c0001t0003g0252 a0001c0001t0003g0259 a0001c0001t0003g0261 a0001c0001t0005g0256 a0001c0001t0008g0046 a0001c0001t0009g0043 a0001c0001t0010g0022 a0001c0001t0014g0061 a0001c0001t0015g0041 a0001c0001t0016g0161 a0001c0001t0017g0007 a0001c0005t0002g0235 a0001c0005t0002g0241 a0001c0007t0001g0135 a0001c0009t0001g0176 a0002c0002t0001g0006 a0002c0002t0001g0112 a0002c0002t0004g0021 a0002c0002t0004g0048 a0002c0002t0004g0066 a0002c0002t0004g0165 a0002c0002t0004g0166 a0003c0003t0001g0082 a0003c0003t0001g0084 a0004c0006t0002g0005	168	268	0.6269	-34	c.886 others(49): Show c.886+586_886+619delACTCGCCCCACACCACAGCTTCCCATCTGC CCAC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176871297	AACACCAC others(27): Show AACACCACAGCTTCCCATCTGCCCACACTCGCCCC	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	268	0.0037	-34	c.886 others(49): Show c.886+891_886+924delACTCGCCCCACACCACAGCTTCCCATCTGC CCAC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176871836	CCCCAACA others(27): Show CCCCAACACCACAGCTTCCCATCTGCCCACACTCG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02717.hp1 HG03225.hp2 others(1): Show HG02698.hp2 HG02717.hp1 HG03225.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0120 a0001c0001t0001g0174 a0001c0001t0003g0244 others(1): Show a0001c0001t0001g0120 a0001c0001t0001g0174 a0001c0001t0003g0244 a0001c0001t0003g0261	4	268	0.0149	-34	c.886 others(51): Show c.886+1340_886+1373delAACACCACAGCTTCCCATCTGCCCACAC TCGCCC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176872413	CCCCAACA others(27): Show CCCCAACACCACAGCTTCCCATCTGCCCACACTCG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01884.hp1 others(23): Show HG01109.hp1 HG01243.hp2 HG01884.hp1 HG02074.hp2 HG02145.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 NA18906.hp1 NA18975.hp2 NA19085.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0004c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0005t0002 a0002c0002t0001 a0002c0002t0004 a0004c0006t0002	a0001c0001t0002g0248 a0001c0001t0003g0074 a0001c0001t0003g0244 others(21): Show a0001c0001t0002g0248 a0001c0001t0003g0074 a0001c0001t0003g0244 a0001c0001t0003g0252 a0001c0001t0003g0259 a0001c0001t0003g0261 a0001c0001t0005g0256 a0001c0001t0007g0083 a0001c0001t0007g0242 a0001c0001t0007g0247 a0001c0001t0008g0113 a0001c0001t0010g0022 a0001c0001t0011g0015 a0001c0005t0002g0235 a0001c0005t0002g0241 a0002c0002t0001g0006 a0002c0002t0001g0112 a0002c0002t0004g0021 a0002c0002t0004g0048 a0002c0002t0004g0066 a0002c0002t0004g0144 a0002c0002t0004g0165 a0002c0002t0004g0166 a0004c0006t0002g0005	26	268	0.0970	-34	c.887 others(51): Show c.887-1483_887-1450delAACACCACAGCTTCCCATCTGCCCACAC TCGCCC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UPF1_chr19_18826959_18873230	18829592	CATATATA others(27): Show CATATATATATATACATATATATATATGTATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	394	0.0025	-34	c.-26 others(45): Show c.-2617_-2584delATATATATATATACATATATATATATGTATATAT	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2366		chr19	TogoVar
UPK1B_chr3_119168598_119210143	119179352	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00738.hp1 others(19): Show HG00438.hp2 HG00544.hp1 HG00738.hp1 HG02015.hp2 HG02040.hp1 HG02080.hp2 HG02132.hp2 HG03017.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18953.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18999.hp1 NA19063.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0003c0003t0003 a0005c0006t0001	a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0032 others(19): Show a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0187 a0001c0001t0001g0209 a0001c0001t0003g0023 a0002c0002t0001g0031 a0002c0002t0001g0034 a0002c0002t0001g0041 a0002c0002t0001g0044 a0003c0003t0003g0049 a0005c0006t0001g0033	22	422	0.0521	-34	c.-29 others(51): Show c.-29+5727_-29+5760delATATATATATATATATATATATATATAT ATATAT	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
UQCC3_chr11_62666673_62678686	62675527	CCTGTAAT others(27): Show CCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	328	0.0031	-34	c.34 others(45): Show c.3414_*3447delCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGG	UQCC3	ENSG00000204922.5	transcript	ENST00000377953.4	protein_coding		1842		chr11	TogoVar
URI1_chr19_29937239_30021612	29944140	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	328	0.0031	-34	c.117 others(51): Show c.117+1496_117+1529delTATATATATATATATATATATATATATA TATATA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
URI1_chr19_29937239_30021612	29985119	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA21309.hp1 HG03130.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0027 a0002c0002t0003g0021 a0002c0002t0001g0027 a0002c0002t0003g0021	2	328	0.0061	-34	c.153 others(47): Show c.153-79_153-46delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
UROC1_chr3_126476166_126522773	126515568	TCCCCAGC others(27): Show TCCCCAGCACCCACCACCTACCCTCCTCCCATCTG	T T	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	380	0.0026	-34	c.126 others(51): Show c.126+1992_126+2025delCAGATGGGAGGAGGGTAGGTGGTGGGTG CTGGGG	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
UROC1_chr3_126476166_126522773	126515724	TCATCTGC others(27): Show TCATCTGCCCAGCACCCACCACCTACCCTCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02258.hp2 HG03209.hp2 others(1): Show HG02056.hp2 HG02258.hp2 HG03209.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0029 a0001c0001 a0002c0005 a0002c0029	a0001c0001t0004 a0002c0005t0002 a0002c0005t0003 others(1): Show a0001c0001t0004 a0002c0005t0002 a0002c0005t0003 a0002c0029t0001	a0001c0001t0004g0128 a0002c0005t0002g0142 a0002c0005t0003g0140 others(1): Show a0001c0001t0004g0128 a0002c0005t0002g0142 a0002c0005t0003g0140 a0002c0029t0001g0141	4	380	0.0105	-34	c.126 others(51): Show c.126+1836_126+1869delGGGGAGAGGGTAGGTGGTGGGTGCTGGG CAGATG	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
UROC1_chr3_126476166_126522773	126516252	CACCCCCT others(27): Show CACCCCCTCATCACCCCAGCACCCACCACCTAATG	C C	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	380	0.0026	-34	c.126 others(51): Show c.126+1308_126+1341delCATTAGGTGGTGGGTGCTGGGGTGATGA GGGGGT	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
UROC1_chr3_126476166_126522773	126516401	GCCCACCA others(27): Show GCCCACCACCTACCCTCACCCTCATCACCCCAGCA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp1 HG02451.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0150 a0001c0001t0006g0151	2	380	0.0053	-34	c.126 others(51): Show c.126+1159_126+1192delTGCTGGGGTGATGAGGGTGAGGGTAGGT GGTGGG	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
USP34_chr2_61182463_61476087	61470012	CATTAAAG others(27): Show CATTAAAGCGGTGAATGCTACACTAAGAAACATCA	C C	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0309 a0001c0003t0027g0309	1	312	0.0032	-34	c.43+ others(47): Show c.43+604_43+637delTGATGTTTCTTAGTGTAGCATTCACCGCTTTA AT	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	1/79			chr2	TogoVar
USP40_chr2_233470526_233571782	233494922	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03486.hp1 HG03516.hp2 others(3): Show HG03453.hp2 HG03486.hp1 HG03516.hp2 NA18522.hp2 NA19240.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0001 a0002c0010t0011 a0002c0002t0001 a0002c0010t0011	a0002c0002t0001g0021 a0002c0010t0011g0001 a0002c0010t0011g0017 others(2): Show a0002c0002t0001g0021 a0002c0010t0011g0001 a0002c0010t0011g0017 a0002c0010t0011g0018 a0002c0010t0011g0019	6	324	0.0185	-34	c.279 others(53): Show c.2791-1405_2791-1372delAATATATATATATATATATATATATA TATATATA	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding	24/31			chr2	TogoVar
USP43_chr17_9640517_9734687	9681462	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	330	0.0030	-34	c.110 others(53): Show c.1105+1110_1105+1143delATATATATATATATATATATATATAT ATATATAT	USP43	ENSG00000154914.17	transcript	ENST00000285199.12	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
USP46_chr4_52585960_52664301	52632956	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0017	a0001c0006t0017g0036 a0001c0006t0017g0036	1	192	0.0052	-34	c.37- others(49): Show c.37-1846_37-1813delTCTTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8			chr4	TogoVar
USP47_chr11_11836972_11966887	11877832	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01943.hp1 HG02071.hp2 others(17): Show HG01934.hp2 HG01943.hp1 HG02071.hp2 HG02523.hp2 HG02683.hp1 HG02717.hp2 HG02818.hp2 HG03669.hp2 HG03688.hp1 HG04115.hp2 NA18747.hp1 NA18941.hp2 NA18944.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA19012.hp1 NA19082.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0022 a0001c0001t0032 others(3): Show a0001c0001t0007 a0001c0001t0022 a0001c0001t0032 a0001c0001t0038 a0001c0001t0040 a0001c0001t0047	a0001c0001t0007g0010 a0001c0001t0007g0012 a0001c0001t0007g0013 others(17): Show a0001c0001t0007g0010 a0001c0001t0007g0012 a0001c0001t0007g0013 a0001c0001t0007g0015 a0001c0001t0007g0019 a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0022g0011 a0001c0001t0022g0014 a0001c0001t0032g0239 a0001c0001t0038g0017 a0001c0001t0040g0016 a0001c0001t0047g0018	20	386	0.0518	-34	c.40- others(49): Show c.40-2343_40-2310delTGTGTGTGTGTGTGTGTGTGTGTGTGCGCG CGCG	USP47	ENSG00000170242.19	transcript	ENST00000527733.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
USP6_chr17_5111032_5179991	5116259	GCCACTCC others(27): Show GCCACTCCCGGCCCCGCTCCGGGCGGCCCCCCTCA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0047 a0003c0003t0047	a0003c0003t0047g0244 a0003c0003t0047g0244	1	362	0.0028	-34	c.-23 others(45): Show c.-2389_-2356delGGGCGGCCCCCCTCACCACTCCCGGCCCCGCTCC	USP6	ENSG00000129204.17	transcript	ENST00000574788.6	protein_coding	1/38	14056	INFO_REALIGN_3_PRIME	chr17	TogoVar
USP7_chr16_8887097_8968906	8967245	GTAATGCC others(27): Show GTAATGCCTGCTTCCTCAGAGGGTGAATGCCAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0053 a0001c0001t0022g0053	1	338	0.0030	-34	c.-39 others(45): Show c.-3994_-3961delTCTTGGCATTCACCCTCTGAGGAAGCAGGCATTA	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding		3340		chr16	TogoVar

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