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
TRPM8_chr2_233912373_234024522	233927771	TTTCTTTC others(26): Show TTTCTTTCTTTCTTTCTTTCTTTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19010.hp1 NA18980.hp2 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0007t0001 a0002c0002t0001 a0002c0007t0001	a0002c0002t0001g0187 a0002c0007t0001g0188 a0002c0002t0001g0187 a0002c0007t0001g0188	2	322	0.0062	-33	c.117 others(50): Show c.117+1121_117+1153delTTTCTTTCTTTCTTTCTTTTCTTTCCTT CCTTC	TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
TSGA10_chr2_98992261_99159942	99136798	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0319	1	324	0.0031	-33	c.-62 others(52): Show c.-620-9655_-620-9623delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	TSGA10	ENSG00000135951.16	transcript	ENST00000393483.8	protein_coding	1/20			chr2	TogoVar
TSPAN15_chr10_69446465_69512666	69455573	CTTTTCTT others(26): Show CTTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0288 a0001c0001t0004g0288	1	340	0.0029	-33	c.96+ others(48): Show c.96+3885_96+3917delTTTCTTTCTTTCTTTCTCTTTCTTTCTTTC TTT	TSPAN15	ENSG00000099282.10	transcript	ENST00000373290.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
TSPAN32_chr11_2297013_2323204	2308511	CCCCCCGC others(26): Show CCCCCCGCAATGACCAGCCCCCAACAGTGACCAG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	412	0.0024	-33	c.280 others(48): Show c.280-219_280-187delGCAATGACCAGCCCCCAACAGTGACCAGCC CCC	TSPAN32	ENSG00000064201.16	transcript	ENST00000182290.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
TSPAN4_chr11_837852_872111	846594	TCCCTGAG others(26): Show TCCCTGAGTGCCAGGAGGAGGACAGACTCCCCAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03209.hp1 HG03453.hp2 HG02055.hp2 HG03209.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161	3	394	0.0076	-33	c.-11 others(50): Show c.-117-604_-117-572delCTGAGTGCCAGGAGGAGGACAGACTCCC CAGCC	TSPAN4	ENSG00000214063.12	transcript	ENST00000397397.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
TSPAN4_chr11_837852_872111	858560	GGCTCACA others(26): Show GGCTCACATGCACTCCCGGCTCACACGCACCCCT	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	394	0.0025	-33	c.64- others(48): Show c.64-3982_64-3950delTGCACTCCCGGCTCACACGCACCCCTGCTC ACA	TSPAN4	ENSG00000214063.12	transcript	ENST00000397397.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
TSPAN4_chr11_837852_872111	859434	CGGCTCAC others(26): Show CGGCTCACACGCACCCCCCTCACACGCACCCCGG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG00673.hp1 others(66): Show HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01358.hp1 HG01433.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02071.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02809.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 NA18906.hp1 NA18947.hp1 NA18952.hp2 NA18955.hp2 NA18969.hp1 NA18979.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19091.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0002c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(49): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0151 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0308 a0001c0001t0002g0205 a0001c0001t0003g0189 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0183 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0316 a0001c0002t0001g0317 a0002c0008t0001g0210	69	394	0.1751	-33	c.64- others(48): Show c.64-3114_64-3082delGCTCACACGCACCCCCCTCACACGCACCCC GGG	TSPAN4	ENSG00000214063.12	transcript	ENST00000397397.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
TSPAN7_chrX_38556542_38693918	38561379	CCGCGCGG others(26): Show CCGCGCGGTGCGCGCTCACGCACGCGCACGGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	223	0.0045	-33	c.-16 others(42): Show c.-167_-135delCGCGCGGTGCGCGCTCACGCACGCGCACGGCCT	TSPAN7	ENSG00000156298.13	transcript	ENST00000378482.7	protein_coding		162		chrX	TogoVar
TSPAN9_chr12_3072379_3291559	3235208	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0282 a0001c0001t0086g0282	1	288	0.0035	-33	c.63+ others(50): Show c.63+33954_63+33986delAAAAAAAAATATATATATATATATATAT ATATA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3235210	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0050 a0001c0001t0012g0050	1	288	0.0035	-33	c.63+ others(50): Show c.63+33956_63+33988delAAAAAAATATATATATATATATATATAT ATATA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3235212	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0087 a0001c0003t0010g0087	1	288	0.0035	-33	c.63+ others(50): Show c.63+33958_63+33990delAAAAATATATATATATATATATATATAT ATATA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3235214	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp2 HG02647.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0056 a0001c0001t0009 a0001c0001t0056	a0001c0001t0009g0089 a0001c0001t0056g0051 a0001c0001t0009g0089 a0001c0001t0056g0051	2	288	0.0069	-33	c.63+ others(50): Show c.63+33960_63+33992delAAATATATATATATATATATATATATAT ATATA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPEAR_chr21_44492893_44716572	44714266	TACCACTG others(26): Show TACCACTGCACTCCAGCCTGGGAGACAGAGGAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	294	0.0034	-33	c.-27 others(44): Show c.-2785_-2753delCTTCCTCTGTCTCCCAGGCTGGAGTGCAGTGGT	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding		2695		chr21	TogoVar
TTC16_chr9_127711079_127736590	127719291	ATGTCCTG others(26): Show ATGTCCTGCACTGCCACTTCCTGTGTACCCTTGT	A A	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0042 a0005c0006t0002g0042	1	334	0.0030	-33	c.427 others(48): Show c.427-786_427-754delTGTCCTGCACTGCCACTTCCTGTGTACCCT TGT	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	4/13			chr9	TogoVar
TTC7B_chr14_90519564_90821430	90621084	GGGGCAGA others(26): Show GGGGCAGAGGCCACATGGGTTTGGCTGGGATGAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG03486.hp1 HG01884.hp2 HG01891.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0011 a0001c0002 a0001c0004 a0001c0011	a0001c0002t0094 a0001c0004t0078 a0001c0011t0101 a0001c0002t0094 a0001c0004t0078 a0001c0011t0101	a0001c0002t0094g0041 a0001c0004t0078g0071 a0001c0011t0101g0140 a0001c0002t0094g0041 a0001c0004t0078g0071 a0001c0011t0101g0140	3	200	0.0150	-33	c.175 others(52): Show c.1752-3072_1752-3040delATCATCCCAGCCAAACCCATGTGGCC TCTGCCC	TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	15/19			chr14	TogoVar
TTC7B_chr14_90519564_90821430	90621316	AGCCGGGA others(26): Show AGCCGGGACGATGGGCAGAGGCCACGCGGGTACG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02895.hp2 HG02896.hp1 others(2): Show HG02055.hp1 HG02895.hp2 HG02896.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0016 a0001c0002t0017 a0001c0004t0012 others(1): Show a0001c0002t0016 a0001c0002t0017 a0001c0004t0012 a0001c0006t0074	a0001c0002t0016g0011 a0001c0002t0017g0085 a0001c0002t0017g0086 others(2): Show a0001c0002t0016g0011 a0001c0002t0017g0085 a0001c0002t0017g0086 a0001c0004t0012g0141 a0001c0006t0074g0135	5	200	0.0250	-33	c.175 others(52): Show c.1752-3304_1752-3272delCGTACCCGCGTGGCCTCTGCCCATCG TCCCGGC	TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	15/19			chr14	TogoVar
TTF1_chr9_132370548_132411840	132377688	GGTGTGAG others(26): Show GGTGTGAGTGCATGTGGTGTGTGTGAGTGCATGT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0161 a0010c0017t0001g0161	1	400	0.0025	-33	c.246 others(52): Show c.2464+1338_2464+1370delACATGCACTCACACACACCACATGCA CTCACAC	TTF1	ENSG00000125482.13	transcript	ENST00000334270.3	protein_coding	10/10			chr9	TogoVar
TTLL11_chr9_121810674_122098308	122095914	AAACATAT others(26): Show AAACATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG02258.hp2 HG02818.hp2	a0001 a0001	a0001c0007 a0001c0015 a0001c0007 a0001c0015	a0001c0007t0012 a0001c0015t0018 a0001c0007t0012 a0001c0015t0018	a0001c0007t0012g0152 a0001c0015t0018g0151 a0001c0007t0012g0152 a0001c0015t0018g0151	2	174	0.0115	-33	c.-27 others(44): Show c.-2799_-2767delATATATATATATATATATATATATATATATGTT	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding		2607		chr9	TogoVar
TTLL8_chr22_50013575_50063298	50062743	TGAGTGGC others(26): Show TGAGTGGCTGCCCAGGTGTTTGGGCATCAAGGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	224	0.0045	-33	c.-46 others(44): Show c.-4661_-4629delCACCTTGATGCCCAAACACCTGGGCAGCCACTC	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding		4446		chr22	TogoVar
TTYH3_chr7_2626986_2669802	2627464	AGATGGAG others(26): Show AGATGGAGGGAGGGAGGAAAAGATGGAGGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02257.hp1 HG02451.hp2 others(10): Show HG01496.hp2 HG02257.hp1 HG02451.hp2 HG02615.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03453.hp1 HG03579.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0021 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0021 a0001c0001t0047 a0002c0003t0007 a0002c0003t0008 a0002c0003t0020	a0001c0001t0001g0081 a0001c0001t0005g0083 a0001c0001t0021g0171 others(8): Show a0001c0001t0001g0081 a0001c0001t0005g0083 a0001c0001t0021g0171 a0001c0001t0021g0172 a0001c0001t0047g0178 a0002c0003t0007g0082 a0002c0003t0008g0008 a0002c0003t0008g0079 a0002c0003t0008g0080 a0002c0003t0008g0084 a0002c0003t0020g0014	13	402	0.0323	-33	c.-46 others(44): Show c.-4691_-4659delGATGGAGGGAGGGAGGAAAAGATGGAGGGAAGG	TTYH3	ENSG00000136295.16	transcript	ENST00000258796.12	protein_coding		4521		chr7	TogoVar
TUT4_chr1_52418275_52558092	52498900	AATTATAT others(26): Show AATTATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	250	0.0040	-33	c.100 others(52): Show c.1000-1750_1000-1718delATATATATATATATATATATATATAT ATATAAT	TUT4	ENSG00000134744.14	transcript	ENST00000257177.9	protein_coding	4/29			chr1	TogoVar
TXNDC2_chr18_9880973_9894275	9893579	CACCGCAC others(26): Show CACCGCACCTGGCCAAACATGTATGTGATTCATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	-33	c.54 others(44): Show c.5439_*5471delACCGCACCTGGCCAAACATGTATGTGATTCATG	TXNDC2	ENSG00000168454.13	transcript	ENST00000357775.6	protein_coding		4305		chr18	TogoVar
TXNL4A_chr18_79965813_79993563	79969253	AGAGAGAG others(26): Show AGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	-33	c.43 others(44): Show c.4399_*4431delCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTC	TXNL4A	ENSG00000141759.15	transcript	ENST00000269601.10	protein_coding		1559		chr18	TogoVar
TYMS_chr18_652653_678578	667423	GTGATGGA others(26): Show GTGATGGAGATGGTGATGGTGATGGTGATGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	482	0.0021	-33	c.455 others(50): Show c.455-1613_455-1581delATGGAGATGGTGATGGTGATGGTGATGG TGATG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UBA6_chr4_67607652_67706155	67638406	AAGCCAGT others(26): Show AAGCCAGTCCCACCATGCTCACGTTTCCTCCTCT	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	324	0.0031	-33	c.173 others(50): Show c.1736+504_1736+536delAGAGGAGGAAACGTGAGCATGGTGGGAC TGGCT	UBA6	ENSG00000033178.13	transcript	ENST00000322244.10	protein_coding	19/32			chr4	TogoVar
UBAP2_chr9_33916693_34053887	33918949	GGCCTCTA others(26): Show GGCCTCTAAAGTTTGGTCCCAGCAGCCCTTCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 NA18953.hp1 NA18956.hp1 others(3): Show HG00609.hp2 NA18953.hp1 NA18956.hp1 NA18980.hp2 NA18999.hp2 NA19003.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0116 a0002c0001t0002g0117 a0002c0001t0002g0119 others(3): Show a0002c0001t0002g0116 a0002c0001t0002g0117 a0002c0001t0002g0119 a0002c0001t0002g0120 a0002c0001t0002g0121 a0002c0001t0002g0127	6	356	0.0169	-33	c.35 others(44): Show c.3522_*3554delTGGGAAGGGCTGCTGGGACCAAACTTTAGAGGC	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding		2743		chr9	TogoVar
UBAP2_chr9_33916693_34053887	33981070	TATATATA others(26): Show TATATATATATATATATATATATATATATTCTGG	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02735.hp1 HG03490.hp2 others(3): Show HG01257.hp2 HG02735.hp1 HG03490.hp2 HG03492.hp1 NA18995.hp2 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0004 a0001c0002t0001 a0002c0001t0004	a0001c0002t0001g0149 a0001c0002t0001g0156 a0002c0001t0004g0229 others(3): Show a0001c0002t0001g0149 a0001c0002t0001g0156 a0002c0001t0004g0229 a0002c0001t0004g0231 a0002c0001t0004g0235 a0002c0001t0004g0236	6	356	0.0169	-33	c.520 others(50): Show c.520+5657_520+5689delCCAGAATATATATATATATATATATATA TATAT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34016248	GGAGGAGG others(26): Show GGAGGAGGAGGAAGAGGAGGAAGAGAAGGAGGAA	G G	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18962.hp2 NA18944.hp2 NA18962.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0287 a0001c0003t0001g0288	2	356	0.0056	-33	c.99+ others(46): Show c.99+769_99+801delTTCCTCCTTCTCTTCCTCCTCTTCCTCCTCCT C	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	2/28			chr9	TogoVar
UBE2A_chrX_119569563_119589423	119588772	AGTAAATC others(26): Show AGTAAATCACTTCCAATAGTCTGGAAATCACATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01975.hp2 HG02004.hp1 HG00597.hp2 HG01975.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	333	0.0090	-33	c.55 others(44): Show c.5518_*5550delGTAAATCACTTCCAATAGTCTGGAAATCACATG	UBE2A	ENSG00000077721.17	transcript	ENST00000371558.7	protein_coding		4350		chrX	TogoVar
UBE2R2_chr9_33812160_33925399	33918949	GGCCTCTA others(26): Show GGCCTCTAAAGTTTGGTCCCAGCAGCCCTTCCCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 NA18953.hp1 NA18956.hp2 others(3): Show HG00609.hp2 NA18953.hp1 NA18956.hp2 NA18980.hp2 NA18999.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0049 a0001c0001t0010g0051 a0001c0001t0010g0052 others(3): Show a0001c0001t0010g0049 a0001c0001t0010g0051 a0001c0001t0010g0052 a0001c0001t0010g0053 a0001c0001t0010g0054 a0001c0001t0010g0079	6	366	0.0164	-33	c.17 others(44): Show c.1730_*1762delCCAGCAGCCCTTCCCAGCCTCTAAAGTTTGGTC	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	5/5	1730	INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2V1_chr20_50076124_50118150	50094211	ATATAACA others(26): Show ATATAACATATGCATTATATAATATATAATGCAT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18967.hp1 NA18968.hp2 NA18952.hp2 NA18967.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0108 a0001c0001t0002g0115 a0001c0001t0002g0101 a0001c0001t0002g0108 a0001c0001t0002g0115	3	398	0.0075	-33	c.171 others(50): Show c.171+2428_171+2460delATGCATTATATATTATATAATGCATATG TTATA	UBE2V1	ENSG00000244687.13	transcript	ENST00000371674.8	protein_coding	2/3			chr20	TogoVar
UBXN10_chr1_20181096_20201050	20188319	GAGACTCA others(26): Show GAGACTCAGGCTGTGAGTGGAATGCAGCAGACAT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	408	0.0025	-33	c.-16 others(50): Show c.-16+2170_-15-2192delCTCAGGCTGTGAGTGGAATGCAGCAGAC ATAGA	UBXN10	ENSG00000162543.6	transcript	ENST00000375099.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
UGT1A10_chr2_233631448_233778300	233725249	GGAGGCAG others(26): Show GGAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG04115.hp1 HG00544.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0248 a0001c0001t0001g0201 a0001c0001t0001g0248	2	302	0.0066	-33	c.856 others(52): Show c.856-41768_856-41736delAGGCAGAGGCAGAGGCAGAGGCAGAG GCAGAGG	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233725249	GGAGGCAG others(26): Show GGAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG04115.hp1 NA18940.hp2 HG00544.hp1 HG04115.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0054 a0001c0001t0002g0001 a0001c0001t0002g0054	3	350	0.0086	-33	c.-38 others(44): Show c.-3877_-3845delGAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGCA	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding		3792		chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233725249	GGAGGCAG others(26): Show GGAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18940.hp1 HG04115.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0236 a0001c0001t0001g0237	2	332	0.0060	-33	c.867 others(50): Show c.867+5579_867+5611delAGGCAGAGGCAGAGGCAGAGGCAGAGGC AGAGG	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233725249	GGAGGCAG others(26): Show GGAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0249 a0001c0002t0001g0249	1	330	0.0030	-33	c.867 others(52): Show c.867+11408_867+11440delAGGCAGAGGCAGAGGCAGAGGCAGAG GCAGAGG	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233725249	GGAGGCAG others(26): Show GGAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG04115.hp1 HG00544.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0199 a0001c0001t0001g0183 a0001c0001t0001g0199	2	332	0.0060	-33	c.861 others(52): Show c.861+31401_861+31433delAGGCAGAGGCAGAGGCAGAGGCAGAG GCAGAGG	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233725249	GGAGGCAG others(26): Show GGAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG04115.hp2 HG00544.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0227 a0001c0001t0001g0235	2	320	0.0063	-33	c.856 others(52): Show c.856-41768_856-41736delAGGCAGAGGCAGAGGCAGAGGCAGAG GCAGAGG	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233725249	GGAGGCAG others(26): Show GGAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG04115.hp2 HG00544.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0016 a0002c0002t0001g0008 a0002c0002t0001g0016	2	290	0.0069	-33	c.856 others(52): Show c.856-41768_856-41736delAGGCAGAGGCAGAGGCAGAGGCAGAG GCAGAGG	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233725249	GGAGGCAG others(26): Show GGAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG04115.hp1 HG00544.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0155 a0001c0001t0001g0103 a0001c0001t0001g0155	2	318	0.0063	-33	c.856 others(52): Show c.856-41768_856-41736delAGGCAGAGGCAGAGGCAGAGGCAGAG GCAGAGG	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT2B4_chr4_69475165_69500905	69500640	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	436	0.0023	-33	c.-48 others(44): Show c.-4812_-4780delCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	UGT2B4	ENSG00000156096.15	transcript	ENST00000305107.7	protein_coding		4736		chr4	TogoVar
UHRF2_chr9_6408199_6512054	6488251	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	318	0.0031	-33	c.149 others(52): Show c.1497+1350_1497+1382delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
UMODL1_chr21_42066317_42147996	42131618	GAGGAGGG others(26): Show GAGGAGGGAGGTCTTGGCCATGAAGCTGGGGAAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(171): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03579.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp1 NA18992.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19065.hp2 NA19066.hp2 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(73): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0011 a0012 a0013 a0015 a0021 a0023 a0025 a0026 a0027 a0028 a0030 a0032 a0034 a0035 a0036 a0037 a0039 a0040 a0041 a0042 a0045 a0046 a0048 a0050 a0051 a0052 a0053 a0054 a0056 a0057 a0058 a0059 a0060 a0062 a0063 a0065 a0068 a0070 a0072 a0073 a0074 a0078 a0082 a0084 a0086 a0087 a0088 a0090 a0094 a0096 a0097 a0101 a0102 a0103 a0104 a0105 a0108 a0109 a0110 a0111 a0115 a0117 a0119 a0120 a0121 a0122 a0124 a0127 a0128	a0001c0001 a0001c0014 a0001c0140 others(98): Show a0001c0001 a0001c0014 a0001c0140 a0001c0141 a0001c0182 a0002c0005 a0002c0023 a0002c0129 a0003c0045 a0003c0050 a0003c0109 a0004c0006 a0004c0033 a0005c0002 a0007c0011 a0007c0043 a0007c0101 a0010c0015 a0010c0142 a0010c0184 a0011c0063 a0011c0189 a0012c0054 a0012c0062 a0013c0163 a0013c0178 a0015c0010 a0021c0041 a0023c0118 a0025c0162 a0026c0044 a0026c0108 a0027c0061 a0027c0135 a0028c0022 a0030c0025 a0032c0094 a0034c0059 a0035c0035 a0036c0060 a0036c0123 a0037c0171 a0037c0173 a0039c0036 a0040c0069 a0040c0073 a0041c0037 a0042c0176 a0045c0047 a0046c0091 a0046c0093 a0048c0056 a0050c0143 a0051c0151 a0051c0185 a0052c0124 a0052c0149 a0053c0138 a0053c0183 a0054c0042 a0056c0205 a0057c0204 a0058c0166 a0059c0168 a0060c0169 a0062c0066 a0063c0067 a0065c0083 a0068c0072 a0070c0077 a0072c0074 a0073c0071 a0074c0070 a0078c0122 a0082c0160 a0084c0119 a0086c0174 a0087c0089 a0088c0112 a0090c0098 a0094c0092 a0096c0095 a0097c0107 a0101c0147 a0102c0146 a0103c0179 a0104c0148 a0105c0159 a0108c0186 a0109c0190 a0110c0187 a0111c0188 a0115c0130 a0117c0136 a0119c0150 a0120c0165 a0121c0193 a0122c0181 a0124c0145 a0127c0170 a0128c0203	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(113): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0034 a0001c0014t0004 a0001c0014t0014 a0001c0140t0001 a0001c0141t0005 a0001c0182t0003 a0002c0005t0001 a0002c0005t0003 a0002c0005t0005 a0002c0005t0039 a0002c0023t0001 a0002c0023t0003 a0002c0129t0001 a0003c0045t0001 a0003c0045t0003 a0003c0050t0001 a0003c0109t0001 a0004c0006t0002 a0004c0033t0002 a0005c0002t0002 a0007c0011t0001 a0007c0043t0017 a0007c0101t0029 a0010c0015t0001 a0010c0015t0003 a0010c0015t0005 a0010c0015t0006 a0010c0142t0003 a0010c0184t0009 a0011c0063t0005 a0011c0189t0003 a0012c0054t0003 a0012c0062t0001 a0013c0163t0005 a0013c0178t0001 a0015c0010t0002 a0015c0010t0016 a0021c0041t0005 a0023c0118t0001 a0025c0162t0012 a0026c0044t0012 a0026c0108t0026 a0027c0061t0003 a0027c0061t0005 a0027c0135t0001 a0028c0022t0003 a0030c0025t0013 a0032c0094t0002 a0034c0059t0003 a0035c0035t0001 a0036c0060t0002 a0036c0123t0002 a0037c0171t0035 a0037c0173t0001 a0039c0036t0001 a0040c0069t0005 a0040c0073t0005 a0041c0037t0015 a0042c0176t0002 a0045c0047t0002 a0045c0047t0016 a0046c0091t0009 a0046c0093t0005 a0048c0056t0002 a0050c0143t0003 a0051c0151t0002 a0051c0185t0002 a0052c0124t0006 a0052c0149t0012 a0053c0138t0002 a0053c0183t0002 a0054c0042t0001 a0056c0205t0001 a0057c0204t0001 a0058c0166t0001 a0059c0168t0020 a0060c0169t0003 a0062c0066t0001 a0063c0067t0003 a0065c0083t0002 a0068c0072t0015 a0070c0077t0002 a0072c0074t0003 a0073c0071t0003 a0074c0070t0003 a0078c0122t0040 a0082c0160t0002 a0084c0119t0013 a0086c0174t0002 a0087c0089t0002 a0088c0112t0003 a0090c0098t0001 a0094c0092t0003 a0096c0095t0003 a0097c0107t0001 a0101c0147t0001 a0102c0146t0001 a0103c0179t0004 a0104c0148t0042 a0105c0159t0001 a0108c0186t0005 a0109c0190t0002 a0110c0187t0002 a0111c0188t0003 a0115c0130t0005 a0117c0136t0003 a0119c0150t0001 a0120c0165t0001 a0121c0193t0003 a0122c0181t0005 a0124c0145t0001 a0127c0170t0030 a0128c0203t0011	a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0058 others(169): Show a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0110 a0001c0001t0003g0181 a0001c0001t0003g0185 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0003g0220 a0001c0001t0003g0311 a0001c0001t0003g0356 a0001c0001t0003g0395 a0001c0001t0005g0002 a0001c0001t0005g0066 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0111 a0001c0001t0005g0138 a0001c0001t0005g0333 a0001c0001t0007g0161 a0001c0001t0034g0309 a0001c0014t0004g0184 a0001c0014t0004g0336 a0001c0014t0014g0177 a0001c0140t0001g0244 a0001c0141t0005g0252 a0001c0182t0003g0197 a0002c0005t0001g0155 a0002c0005t0001g0329 a0002c0005t0003g0384 a0002c0005t0005g0354 a0002c0005t0005g0355 a0002c0005t0039g0275 a0002c0023t0001g0128 a0002c0023t0003g0048 a0002c0129t0001g0276 a0003c0045t0001g0116 a0003c0045t0003g0351 a0003c0050t0001g0074 a0003c0050t0001g0079 a0003c0109t0001g0305 a0004c0006t0002g0164 a0004c0006t0002g0167 a0004c0006t0002g0206 a0004c0006t0002g0209 a0004c0033t0002g0335 a0005c0002t0002g0049 a0005c0002t0002g0091 a0005c0002t0002g0092 a0005c0002t0002g0093 a0005c0002t0002g0096 a0005c0002t0002g0098 a0005c0002t0002g0170 a0005c0002t0002g0171 a0005c0002t0002g0173 a0005c0002t0002g0239 a0005c0002t0002g0300 a0005c0002t0002g0314 a0007c0011t0001g0028 a0007c0011t0001g0348 a0007c0043t0017g0317 a0007c0043t0017g0332 a0007c0101t0029g0016 a0010c0015t0001g0072 a0010c0015t0003g0097 a0010c0015t0003g0100 a0010c0015t0005g0119 a0010c0015t0006g0134 a0010c0142t0003g0258 a0010c0184t0009g0022 a0011c0063t0005g0002 a0011c0063t0005g0106 a0011c0189t0003g0186 a0012c0054t0003g0256 a0012c0062t0001g0019 a0013c0163t0005g0139 a0013c0178t0001g0029 a0015c0010t0002g0241 a0015c0010t0002g0249 a0015c0010t0002g0268 a0015c0010t0016g0353 a0021c0041t0005g0381 a0021c0041t0005g0382 a0023c0118t0001g0274 a0025c0162t0012g0123 a0026c0044t0012g0021 a0026c0044t0012g0125 a0026c0108t0026g0306 a0027c0061t0003g0352 a0027c0061t0005g0115 a0027c0135t0001g0273 a0028c0022t0003g0189 a0028c0022t0003g0190 a0028c0022t0003g0191 a0028c0022t0003g0224 a0030c0025t0013g0005 a0030c0025t0013g0368 a0032c0094t0002g0095 a0034c0059t0003g0322 a0034c0059t0003g0325 a0035c0035t0001g0154 a0036c0060t0002g0199 a0036c0060t0002g0349 a0036c0123t0002g0105 a0037c0171t0035g0271 a0037c0173t0001g0269 a0039c0036t0001g0380 a0039c0036t0001g0383 a0040c0069t0005g0391 a0040c0073t0005g0321 a0041c0037t0015g0243 a0041c0037t0015g0343 a0042c0176t0002g0088 a0045c0047t0002g0290 a0045c0047t0016g0297 a0046c0091t0009g0234 a0046c0093t0005g0094 a0048c0056t0002g0196 a0050c0143t0003g0024 a0051c0151t0002g0020 a0051c0185t0002g0099 a0052c0124t0006g0284 a0052c0149t0012g0121 a0053c0138t0002g0200 a0053c0183t0002g0303 a0054c0042t0001g0006 a0054c0042t0001g0008 a0056c0205t0001g0261 a0057c0204t0001g0073 a0058c0166t0001g0371 a0059c0168t0020g0150 a0060c0169t0003g0026 a0062c0066t0001g0182 a0063c0067t0003g0357 a0065c0083t0002g0248 a0068c0072t0015g0265 a0070c0077t0002g0034 a0072c0074t0003g0313 a0073c0071t0003g0358 a0074c0070t0003g0242 a0078c0122t0040g0363 a0082c0160t0002g0041 a0084c0119t0013g0279 a0086c0174t0002g0340 a0087c0089t0002g0187 a0088c0112t0003g0238 a0090c0098t0001g0068 a0094c0092t0003g0331 a0096c0095t0003g0350 a0097c0107t0001g0147 a0101c0147t0001g0018 a0102c0146t0001g0076 a0103c0179t0004g0323 a0104c0148t0042g0379 a0105c0159t0001g0373 a0108c0186t0005g0114 a0109c0190t0002g0392 a0110c0187t0002g0179 a0111c0188t0003g0205 a0115c0130t0005g0133 a0117c0136t0003g0213 a0119c0150t0001g0281 a0120c0165t0001g0219 a0121c0193t0003g0361 a0122c0181t0005g0337 a0124c0145t0001g0069 a0127c0170t0030g0270 a0128c0203t0011g0033	174	400	0.4350	-33	c.377 others(52): Show c.3775+1841_3775+1873delTGAAGCTGGGGAACAGGAGGGAGGTC TTGGCCA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42145542	ATCTGATG others(26): Show ATCTGATGGAGGAGGGTCTGATGGAGGTGAAGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0048 a0048	a0048c0056 a0048c0056	a0048c0056t0041 a0048c0056t0041	a0048c0056t0041g0365 a0048c0056t0041g0365	1	400	0.0025	-33	c.34 others(44): Show c.3469_*3501delTCTGATGGAGGAGGGTCTGATGGAGGTGAAGGC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding		2547		chr21	TogoVar
UNC5A_chr5_176805559_176885898	176871128	CACACCAC others(26): Show CACACCACAGCTTCCCATCTGCCCACGCTCACCA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03225.hp2 HG03516.hp1 HG02074.hp2 HG03225.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0011 a0002c0002t0004 a0001c0001t0003 a0001c0001t0011 a0002c0002t0004	a0001c0001t0003g0244 a0001c0001t0011g0015 a0002c0002t0004g0144 a0001c0001t0003g0244 a0001c0001t0011g0015 a0002c0002t0004g0144	3	268	0.0112	-33	c.886 others(48): Show c.886+620_886+652delGCTCACCAACACCACAGCTTCCCATCTGCC CAC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176871154	GCTCACCA others(26): Show GCTCACCAACACCACAGCTTCCCATCTGCCCACA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	268	0.0037	-33	c.886 others(48): Show c.886+624_886+656delACCAACACCACAGCTTCCCATCTGCCCACA CTC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176872363	ACATCTGC others(26): Show ACATCTGCCCACACTCACCAACACCACAGCTTCC	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	268	0.0037	-33	c.887 others(50): Show c.887-1589_887-1557delACCAACACCACAGCTTCCCATCTGCCCA CACTC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176872855	CACCAACA others(26): Show CACCAACACCACAGCTTCCCATCTGCCCACACCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	268	0.0037	-33	c.887 others(50): Show c.887-1112_887-1080delACCAACACCACAGCTTCCCATCTGCCCA CACCT	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14			chr5	TogoVar
URI1_chr19_29937239_30021612	29985119	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02683.hp1 HG02622.hp2 HG02683.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0002c0002t0002 a0001c0001t0015 a0002c0002t0002	a0001c0001t0015g0008 a0002c0002t0002g0314 a0001c0001t0015g0008 a0002c0002t0002g0314	2	328	0.0061	-33	c.153 others(46): Show c.153-78_153-46delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
UROC1_chr3_126476166_126522773	126516254	CCCCCTCA others(26): Show CCCCCTCATCACCCCAGCACCCACCACCTAATGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(111): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02273.hp1 HG02293.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp1 NA18999.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19056.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0010	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0001c0013 a0001c0023 a0001c0024 a0003c0006 a0004c0007 a0006c0016 a0006c0017 a0010c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0003t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0006 a0001c0012t0002 a0001c0013t0001 a0001c0023t0001 a0001c0024t0005 a0003c0006t0002 a0003c0006t0004 a0004c0007t0005 a0006c0016t0007 a0006c0017t0001 a0010c0030t0008	a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0002g0007 others(97): Show a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0052 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0153 a0001c0001t0002g0320 a0001c0001t0003g0005 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0085 a0001c0001t0004g0020 a0001c0001t0004g0074 a0001c0001t0004g0081 a0001c0001t0004g0086 a0001c0001t0004g0099 a0001c0001t0004g0104 a0001c0001t0004g0107 a0001c0001t0004g0128 a0001c0001t0004g0186 a0001c0001t0005g0095 a0001c0001t0005g0126 a0001c0001t0007g0079 a0001c0001t0007g0125 a0001c0001t0008g0124 a0001c0001t0008g0131 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0087 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0154 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0003t0001g0027 a0001c0003t0001g0060 a0001c0003t0001g0130 a0001c0003t0001g0132 a0001c0003t0001g0189 a0001c0004t0002g0053 a0001c0004t0003g0054 a0001c0004t0005g0058 a0001c0004t0005g0061 a0001c0004t0006g0059 a0001c0012t0002g0318 a0001c0013t0001g0317 a0001c0023t0001g0091 a0001c0024t0005g0096 a0003c0006t0002g0182 a0003c0006t0004g0183 a0003c0006t0004g0184 a0004c0007t0005g0055 a0004c0007t0005g0056 a0004c0007t0005g0057 a0006c0016t0007g0075 a0006c0017t0001g0076 a0010c0030t0008g0181	114	380	0.3000	-33	c.126 others(50): Show c.126+1307_126+1339delACATTAGGTGGTGGGTGCTGGGGTGATG AGGGG	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar

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