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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TRAK1_chr3_42086357_42230890	42169500	AATTCACC others(28): Show AATTCACCTGACTTCTCAGAGCCTCAGTTTCCCTGT	A A	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	288	0.0035	-35	c.287 others(52): Show c.287-7313_287-7279delATTCACCTGACTTCTCAGAGCCTCAGTT TCCCTGT		TRAK1	ENSG00000182606.17	transcript	ENST00000327628.10	protein_coding	2/15						chr3	TogoVar
TRIM13_chr13_49992042_50023467	50015081	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0310 a0001c0001t0310	a0001c0001t0310g0227 a0001c0001t0310g0227	1	390	0.0026	-35	c.19 others(46): Show c.1919_*1953delAAAAAAAAAAAAATATATATATATATATATATAT A		TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding	2/2				1919	INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM13_chr13_49992042_50023467	50015083	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0301 a0001c0001t0301	a0001c0001t0301g0024 a0001c0001t0301g0024	1	390	0.0026	-35	c.19 others(46): Show c.1921_*1955delAAAAAAAAAAATATATATATATATATATATATAT A		TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding	2/2				1921	INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM13_chr13_49992042_50023467	50015089	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0038 a0001c0001t0047g0038	1	390	0.0026	-35	c.19 others(46): Show c.1927_*1961delAAAAATATATATATATATATATATATATATATAT A		TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding	2/2				1927	INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM13_chr13_49992042_50023467	50015093	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG04115.hp1 HG00140.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0179 a0001c0001t0214 a0001c0001t0179 a0001c0001t0214	a0001c0001t0179g0001 a0001c0001t0214g0009 a0001c0001t0179g0001 a0001c0001t0214g0009	2	390	0.0051	-35	c.19 others(46): Show c.1931_*1965delATATATATATATATATATATATATATATATATAT A		TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding	2/2				1931	INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM22_chr11_5684790_5715863	5702146	GAATATAT others(28): Show GAATATATATTAGTTATATATTACATATACATAACT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0434 a0001c0001t0001g0434	1	480	0.0021	-35	c.750 others(52): Show c.750+3624_750+3658delCATATACATAACTAATATATATTAGTTA TATATTA		TRIM22	ENSG00000132274.17	transcript	ENST00000379965.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
TRIM2_chr4_153199443_153344317	153244379	TTCTTCTT others(28): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0148 a0001c0002t0003g0148	1	268	0.0037	-35	c.31- others(52): Show c.31-25954_31-25920delCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCT		TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
TRIM37_chr17_58993202_59111880	58997146	GTTTGGTA others(28): Show GTTTGGTAAACAATATTGCAACCAGGATTAACTTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0236 a0001c0001t0016g0236	1	342	0.0029	-35	c.21 others(46): Show c.2196_*2230delAGAAGTTAATCCTGGTTGCAATATTGTTTACCAA A		TRIM37	ENSG00000108395.14	transcript	ENST00000262294.12	protein_coding					1055		chr17	TogoVar
TRIM40_chr6_30131140_30153728	30133384	AACATTGA others(28): Show AACATTGATGCAATAGGTATATGCATATATTATTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	459	0.0022	-35	c.-31 others(46): Show c.-3109_-3075delACATTGATGCAATAGGTATATGCATATATTATTT C		TRIM40	ENSG00000204614.9	transcript	ENST00000396581.6	protein_coding					2755		chr6	TogoVar
TRIOBP_chr22_37692048_37781556	37704381	TCAGAACA others(28): Show TCAGAACAGAACAGAACAGAACAGAACAGAACAGAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01192.hp1 HG01070.hp2 HG01192.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0013 a0002c0001t0002g0138 a0002c0001t0002g0013 a0002c0001t0002g0138	2	322	0.0062	-35	c.114 others(52): Show c.114+2926_114+2960delAACAGAACAGAACAGAACAGAACAGAAC AGAACAG		TRIOBP	ENSG00000100106.22	transcript	ENST00000644935.1	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
TRIP11_chr14_91960991_92045059	91995036	CATTACTT others(28): Show CATTACTTGATCATCTTTCCTTGTATTCTCCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03225.hp1 HG04115.hp1 others(1): Show HG02486.hp2 HG03225.hp1 HG04115.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0022 a0001c0001t0001 a0002c0002t0022	a0001c0001t0001g0171 a0002c0002t0022g0296 a0002c0002t0022g0297 others(1): Show a0001c0001t0001g0171 a0002c0002t0022g0296 a0002c0002t0022g0297 a0002c0002t0022g0298	4	364	0.0110	-35	c.505 others(52): Show c.5056+281_5056+315delAAAGAGGAGAATACAAGGAAAGATGATC AAGTAAT		TRIP11	ENSG00000100815.12	transcript	ENST00000267622.8	protein_coding	14/20						chr14	TogoVar
TRMT9B_chr8_12940673_13034777	12996936	CTTTATTT others(28): Show CTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01928.hp1 others(33): Show HG00673.hp1 HG00673.hp2 HG01928.hp1 HG01993.hp2 HG02293.hp2 HG02572.hp2 HG02723.hp2 HG02895.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03239.hp2 HG03831.hp1 HG04115.hp2 NA18906.hp1 NA18945.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18978.hp2 NA18984.hp1 NA19009.hp1 NA19030.hp1 NA19054.hp2 NA19066.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0001c0012 others(3): Show a0001c0001 a0001c0003 a0001c0012 a0002c0002 a0004c0005 a0005c0008	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(23): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0020 a0001c0001t0033 a0001c0001t0043 a0001c0001t0044 a0001c0001t0050 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0152 a0001c0001t0155 a0001c0001t0156 a0001c0001t0160 a0001c0001t0183 a0001c0003t0004 a0001c0012t0008 a0002c0002t0028 a0004c0005t0175 a0005c0008t0084 a0005c0008t0087	a0001c0001t0001g0230 a0001c0001t0007g0204 a0001c0001t0007g0214 others(33): Show a0001c0001t0001g0230 a0001c0001t0007g0204 a0001c0001t0007g0214 a0001c0001t0008g0192 a0001c0001t0008g0201 a0001c0001t0012g0008 a0001c0001t0012g0103 a0001c0001t0012g0213 a0001c0001t0012g0215 a0001c0001t0020g0089 a0001c0001t0020g0111 a0001c0001t0033g0086 a0001c0001t0033g0203 a0001c0001t0043g0102 a0001c0001t0044g0206 a0001c0001t0050g0328 a0001c0001t0050g0329 a0001c0001t0135g0008 a0001c0001t0136g0200 a0001c0001t0137g0195 a0001c0001t0145g0216 a0001c0001t0146g0046 a0001c0001t0147g0190 a0001c0001t0152g0087 a0001c0001t0155g0198 a0001c0001t0156g0065 a0001c0001t0160g0090 a0001c0001t0183g0210 a0001c0003t0004g0194 a0001c0003t0004g0199 a0001c0012t0008g0193 a0001c0012t0008g0205 a0002c0002t0028g0202 a0004c0005t0175g0280 a0005c0008t0084g0163 a0005c0008t0087g0281	36	384	0.0938	-35	c.-2+ others(50): Show c.-2+5944_-2+5978delATTTTATTTTATTTTATTTTATTTTATTTT ATTTT		TRMT9B	ENSG00000250305.9	transcript	ENST00000524591.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
TRPV1_chr17_3560446_3614411	3565020	TCGGGAGA others(28): Show TCGGGAGAGGGAGACCATGGGGAGAGGGAGAGGGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA19065.hp1 NA18975.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0035 a0002c0002t0001g0029 a0002c0002t0001g0035	2	392	0.0051	-35	c.17 others(46): Show c.1760_*1794delCTCCCTCTCCCTCTCCCCATGGTCTCCCTCTCCC G		TRPV1	ENSG00000196689.13	transcript	ENST00000572705.2	protein_coding					425		chr17	TogoVar
TSC2_chr16_2042985_2094491	2091307	GGACGCTG others(28): Show GGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	318	0.0031	-35	c.26 others(46): Show c.2698_*2732delGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGTG A		TSC2	ENSG00000103197.19	transcript	ENST00000219476.9	protein_coding					1817		chr16	TogoVar
TSEN15_chr1_184046730_184079212	184072014	TTATTTTT others(28): Show TTATTTTTTAAAATTATTTTTTCTCTTTTTACTTCA	T T	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	422	0.0024	-35	c.354 others(50): Show c.354-142_354-108delTATTTTTTAAAATTATTTTTTCTCTTTTTA CTTCA		TSEN15	ENSG00000198860.14	transcript	ENST00000645668.2	protein_coding	3/4						chr1	TogoVar
TSNARE1_chr8_142207080_142408182	142227018	AGCCCCCC others(28): Show AGCCCCCCACTGCACCCACACAGCAGTGACAGCCAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03017.hp1 HG01081.hp1 HG03017.hp1	a0002 a0012 a0002 a0012	a0002c0002 a0012c0015 a0002c0002 a0012c0015	a0002c0002t0003 a0012c0015t0001 a0002c0002t0003 a0012c0015t0001	a0002c0002t0003g0193 a0012c0015t0001g0027 a0002c0002t0003g0193 a0012c0015t0001g0027	2	238	0.0084	-35	c.11 others(52): Show c.11+2420_*11+2454delCTGGCTGTCACTGCTGTGTGGGTGCAGT GGGGGGC		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	13/13						chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142227056	CCCCCACT others(28): Show CCCCCACTGCACCCACACAGCAGTGACAGCCAGGAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp1 HG00408.hp2 HG00673.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0002 a0002c0002t0002 a0003c0003t0002	a0002c0002t0002g0211 a0003c0003t0002g0105 a0002c0002t0002g0211 a0003c0003t0002g0105	2	238	0.0084	-35	c.11 others(52): Show c.11+2382_*11+2416delTTCCTGGCTGTCACTGCTGTGTGGGTGC AGTGGGG		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	13/13						chr8	TogoVar
TSPAN15_chr10_69446465_69512666	69455559	CTTTCTTT others(28): Show CTTTCTTTCTTTCTCTTTTCTTTCTTTCTTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp2 NA19240.hp2 HG01496.hp2 HG02055.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0004g0315 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0004g0315	3	340	0.0088	-35	c.96+ others(50): Show c.96+3871_96+3905delTTCTTTCTTTCTCTTTTCTTTCTTTCTTTC TCTTT		TSPAN15	ENSG00000099282.10	transcript	ENST00000373290.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
TSPAN9_chr12_3072379_3291559	3235212	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0188 a0001c0002t0036g0188	1	288	0.0035	-35	c.63+ others(52): Show c.63+33958_63+33992delAAAAATATATATATATATATATATATAT ATATATA		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3235218	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	288	0.0035	-35	c.63+ others(52): Show c.63+33963_63+33997delTATATATATATATATATATATATATATA TATATAT		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8						chr12	TogoVar
TTC7B_chr14_90519564_90821430	90694898	TATATGTC others(28): Show TATATGTCACATATATTTATTATAAATATATGTATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG04228.hp1 HG02280.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0118 a0001c0001t0001 a0001c0004t0118	a0001c0001t0001g0198 a0001c0004t0118g0009 a0001c0001t0001g0198 a0001c0004t0118g0009	2	200	0.0100	-35	c.777 others(50): Show c.777+567_777+601delTATACATATATTTATAATAAATATATGTGA CATAT		TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	6/19						chr14	TogoVar
TTI2_chr8_33493722_33518135	33517184	GCCACATA others(28): Show GCCACATAATTTTTATTTTTTTTTGAAGCAACAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0058 a0002c0003t0001g0058	1	398	0.0025	-35	c.-42 others(46): Show c.-4237_-4203delTTTTGTTGCTTCAAAAAAAAATAAAAATTATGTG G		TTI2	ENSG00000129696.13	transcript	ENST00000431156.7	protein_coding					4050		chr8	TogoVar
TTLL10_chr1_1168880_1202936	1175902	GGAGAGGC others(28): Show GGAGAGGCTGCTGCTCCCAGCCGCTGTGCAGGTGGA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0033 a0033	a0033c0032 a0033c0032	a0033c0032t0002 a0033c0032t0002	a0033c0032t0002g0156 a0033c0032t0002g0156	1	382	0.0026	-35	c.-28 others(52): Show c.-28+1423_-28+1457delCTGCTCCCAGCCGCTGTGCAGGTGGAGA GAGGCTG		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TUBGCP5_chr15_22994177_23044569	23042335	TTCATAAC others(28): Show TTCATAACCCCACCTGGCCAGAGGTGCTGGGGGACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	351	0.0029	-35	c.-28 others(46): Show c.-2827_-2793delTGTCCCCCAGCACCTCTGGCCAGGTGGGGTTATG A		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					2767		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042414	CCCCACCT others(28): Show CCCCACCTGGCCAGAGGTGCTGGGGGACATCATAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18972.hp1 NA18953.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0289 a0001c0001t0003g0290	2	351	0.0057	-35	c.-29 others(46): Show c.-2906_-2872delATTATGATGTCCCCCAGCACCTCTGGCCAGGTGG G		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					2846		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23043045	CTTCACCT others(28): Show CTTCACCTGGCCAGAGGTGCTGGGGGGTATCATAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG02717.hp1 HG02723.hp2 others(4): Show HG01192.hp1 HG02717.hp1 HG02723.hp2 HG02965.hp2 HG03139.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0019 a0001c0003t0001g0129 a0001c0003t0001g0130 others(3): Show a0001c0003t0001g0019 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0004g0128	7	351	0.0199	-35	c.-35 others(46): Show c.-3537_-3503delATTATGATACCCCCCAGCACCTCTGGCCAGGTGA A		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					3477		chr15	TogoVar
TYMS_chr18_652653_678578	666895	GGTGATGG others(28): Show GGTGATGGAGATGGTGATGGTGATGGAGATGGTGAT	G G	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	482	0.0021	-35	c.455 others(52): Show c.455-2175_455-2141delTGATGGAGATGGTGATGGTGATGGAGAT GGTGATG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667263	AGATGGTG others(28): Show AGATGGTGATGGTGATGGGATGGTGATGGAGATGGT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA19084.hp2 HG02293.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0136 a0001c0002t0001g0113 a0001c0001t0001g0136 a0001c0002t0001g0113	2	482	0.0042	-35	c.455 others(52): Show c.455-1791_455-1757delGATGGTGATGGAGATGGTGATGGTGATG GTGATGG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYW1_chr7_66991833_67244514	67149722	ATATCTAT others(28): Show ATATCTATCTATCTATCTATCTATCTATCTATCTAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01069.hp1 others(69): Show HG00323.hp1 HG00642.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18946.hp2 NA18957.hp1 NA18970.hp1 NA18975.hp1 NA18981.hp2 NA18985.hp1 NA18990.hp1 NA18994.hp2 NA19030.hp1 NA19043.hp2 NA19058.hp1 NA19077.hp2 NA19086.hp1 NA19087.hp2 NA19240.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0008 a0010 a0011	a0001c0001 a0002c0003 a0002c0004 others(6): Show a0001c0001 a0002c0003 a0002c0004 a0004c0006 a0004c0011 a0005c0010 a0008c0009 a0010c0012 a0011c0020	a0001c0001t0001 a0002c0003t0002 a0002c0003t0004 others(9): Show a0001c0001t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0013 a0002c0004t0002 a0002c0004t0004 a0004c0006t0005 a0004c0011t0005 a0005c0010t0005 a0008c0009t0004 a0010c0012t0002 a0011c0020t0008	a0001c0001t0001g0125 a0001c0001t0001g0233 a0002c0003t0002g0123 others(69): Show a0001c0001t0001g0125 a0001c0001t0001g0233 a0002c0003t0002g0123 a0002c0003t0002g0124 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0003t0002g0226 a0002c0003t0002g0228 a0002c0003t0002g0229 a0002c0003t0002g0230 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0240 a0002c0003t0002g0241 a0002c0003t0002g0242 a0002c0003t0002g0243 a0002c0003t0002g0244 a0002c0003t0002g0245 a0002c0003t0002g0246 a0002c0003t0002g0247 a0002c0003t0002g0248 a0002c0003t0002g0249 a0002c0003t0002g0251 a0002c0003t0002g0252 a0002c0003t0002g0254 a0002c0003t0002g0255 a0002c0003t0002g0363 a0002c0003t0004g0172 a0002c0003t0004g0205 a0002c0003t0004g0206 a0002c0003t0004g0207 a0002c0003t0013g0219 a0002c0004t0002g0289 a0002c0004t0002g0358 a0002c0004t0004g0282 a0002c0004t0004g0287 a0002c0004t0004g0288 a0002c0004t0004g0290 a0002c0004t0004g0291 a0002c0004t0004g0292 a0002c0004t0004g0293 a0002c0004t0004g0295 a0002c0004t0004g0296 a0002c0004t0004g0297 a0002c0004t0004g0298 a0002c0004t0004g0299 a0002c0004t0004g0300 a0002c0004t0004g0355 a0002c0004t0004g0356 a0002c0004t0004g0357 a0002c0004t0004g0360 a0002c0004t0004g0361 a0002c0004t0004g0362 a0004c0006t0005g0008 a0004c0006t0005g0107 a0004c0006t0005g0108 a0004c0006t0005g0222 a0004c0006t0005g0236 a0004c0006t0005g0250 a0004c0006t0005g0364 a0004c0011t0005g0354 a0005c0010t0005g0359 a0008c0009t0004g0294 a0010c0012t0002g0227 a0011c0020t0008g0213	72	364	0.1978	-35	c.169 others(56): Show c.1698+32105_1698+32139delTATCTATCTATCTATCTATCTATC TATCTATCTAT		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	13/15						chr7	TogoVar
TYW1_chr7_66991833_67244514	67184591	CATTTTAT others(28): Show CATTTTATTTTATTTTATTTTATTTTATTTTATTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01358.hp2 HG02109.hp1 others(2): Show HG01069.hp1 HG01358.hp2 HG02109.hp1 HG02148.hp2 NA19087.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0004t0004 a0002c0003t0002 a0002c0004t0004	a0002c0003t0002g0005 a0002c0003t0002g0363 a0002c0004t0004g0291 others(2): Show a0002c0003t0002g0005 a0002c0003t0002g0363 a0002c0004t0004g0291 a0002c0004t0004g0355 a0002c0004t0004g0360	5	364	0.0137	-35	c.180 others(54): Show c.1809+1380_1809+1414delTATTTTATTTTATTTTATTTTATTTT ATTTTATTT		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
UBAP2_chr9_33916693_34053887	33939760	GGAGGGGG others(28): Show GGAGGGGGAGGAGGAAGGGGAGGAGGAAGGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0233 a0002c0001t0004g0233	1	356	0.0028	-35	c.192 others(54): Show c.1929+1854_1929+1888delTCCTCCCCTTCCTCCTCCCCTTCCTC CTCCCCCTC		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	16/28						chr9	TogoVar
UBAP2_chr9_33916693_34053887	33981068	TATATATA others(28): Show TATATATATATATATATATATATATATATATTCTGG	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03927.hp2 NA20805.hp2 HG01515.hp1 HG03927.hp2 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0228 a0002c0001t0004g0239 a0002c0001t0004g0241 a0002c0001t0004g0228 a0002c0001t0004g0239 a0002c0001t0004g0241	3	356	0.0084	-35	c.520 others(52): Show c.520+5657_520+5691delCCAGAATATATATATATATATATATATA TATATAT		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28						chr9	TogoVar
UBAP2_chr9_33916693_34053887	34050005	TCGCCAGG others(28): Show TCGCCAGGGCTGATTCGGCTGATCTGGCTGTCTAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0355 a0001c0003t0001g0355	1	356	0.0028	-35	c.-12 others(46): Show c.-1257_-1223delCCTAGACAGCCAGATCAGCCGAATCAGCCCTGGC G		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding					1119		chr9	TogoVar
UBE2QL1_chr5_6443859_6501723	6447442	ACACTCAC others(28): Show ACACTCACACACCACACACCACACACACTCACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0186 a0001c0001t0037g0186	1	340	0.0029	-35	c.-14 others(46): Show c.-1451_-1417delCACTCACACACCACACACCACACACACTCACACA C		UBE2QL1	ENSG00000215218.4	transcript	ENST00000399816.4	protein_coding					1416		chr5	TogoVar
UBE2U_chr1_64198623_64272368	64228203	TTTTAGGT others(28): Show TTTTAGGTCAAATTCGTGTTCCTGAATTAGGCACCA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02165.hp2 HG00558.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0069 a0001c0001t0001g0076	2	330	0.0061	-35	c.507 others(52): Show c.507-4356_507-4322delTTAGGTCAAATTCGTGTTCCTGAATTAG GCACCAT		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2W_chr8_73781219_73883862	73842432	GGCAGGAG others(28): Show GGCAGGAGAATGGTGTGAACCCGGGAGGTGGAGCTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02055.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0041 a0001c0001t0039 a0001c0001t0041	a0001c0001t0039g0051 a0001c0001t0041g0050 a0001c0001t0039g0051 a0001c0001t0041g0050	2	266	0.0075	-35	c.16- others(52): Show c.16-11995_16-11961delAAGCTCCACCTCCCGGGTTCACACCATT CTCCTGC		UBE2W	ENSG00000104343.21	transcript	ENST00000602593.6	protein_coding	1/5						chr8	TogoVar
UBL3_chr13_29759371_29855617	29835088	AAATATAT others(28): Show AAATATATATATATATATAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	392	0.0026	-35	c.27+ others(52): Show c.27+14389_27+14423delATATATATATATATATTTATATATATAT ATATATT		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4						chr13	TogoVar
UBR2_chr6_42559029_42698505	42607680	GGGAGGAC others(28): Show GGGAGGACAGGCATGTCCCACCACTCCCAGCTGTTT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0117 a0002c0004t0004g0117	1	342	0.0029	-35	c.864 others(52): Show c.864+1030_864+1064delGGAGGACAGGCATGTCCCACCACTCCCA GCTGTTT		UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	7/46						chr6	TogoVar
UBXN11_chr1_26277282_26311636	26296809	TGACGAGG others(28): Show TGACGAGGAGAGGCCCAGAGAGGTGGGCTCGGACCC	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0135 a0002c0002t0001g0135	1	370	0.0027	-35	c.432 others(49): Show c.432+75_432+109delGGGTCCGAGCCCACCTCTCTGGGCCTCTCCT CGTC		UBXN11	ENSG00000158062.21	transcript	ENST00000374222.6	protein_coding	7/14						chr1	TogoVar
UCP3_chr11_73995277_74014085	74013505	CCTGGTGG others(28): Show CCTGGTGGCTTCGCTCTTGTCCTGGAGAGGAAGAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	446	0.0022	-35	c.-46 others(46): Show c.-4658_-4624delCTTCTTCCTCTCCAGGACAAGAGCGAAGCCACCA G		UCP3	ENSG00000175564.13	transcript	ENST00000314032.9	protein_coding					4421		chr11	TogoVar
UHRF2_chr9_6408199_6512054	6488251	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01981.hp2 HG03516.hp1 others(3): Show HG01943.hp2 HG01981.hp2 HG03516.hp1 NA18983.hp2 NA19000.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0176 a0001c0001t0001g0272 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0176 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0296 a0001c0002t0001g0098	6	318	0.0189	-35	c.149 others(54): Show c.1497+1348_1497+1382delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr9	TogoVar
ULK4_chr3_41241599_41967103	41602251	AAAAGGAA others(28): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG02895.hp1 others(4): Show HG00621.hp2 HG00735.hp1 HG02895.hp1 HG02896.hp1 HG02976.hp2 HG03453.hp1 HG06807.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0009 a0006c0005 a0001c0001 a0004c0009 a0006c0005	a0001c0001t0001 a0001c0001t0003 a0004c0009t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0004c0009t0002 a0006c0005t0001	a0001c0001t0001g0026 a0001c0001t0003g0072 a0004c0009t0002g0012 others(4): Show a0001c0001t0001g0026 a0001c0001t0003g0072 a0004c0009t0002g0012 a0004c0009t0002g0018 a0006c0005t0001g0063 a0006c0005t0001g0064 a0006c0005t0001g0065	7	72	0.0972	-35	c.312 others(56): Show c.3120+13383_3120+13417delCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTT		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	31/36						chr3	TogoVar
UMAD1_chr7_7635752_7884223	7637658	TAGTTATA others(28): Show TAGTTATATAAAACTGTATGTTATGTAATTACATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0099 a0001c0001t0004g0099	1	250	0.0040	-35	c.-32 others(46): Show c.-3226_-3192delAGTTATATAAAACTGTATGTTATGTAATTACATA C		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding					3093		chr7	TogoVar
UNC13C_chr15_53973441_54633605	54093976	TGGTGTGC others(28): Show TGGTGTGCATTGAAACCTTTACTTCATTTCCAAGAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(86): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00735.hp1 HG00738.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01515.hp2 HG01891.hp1 HG01943.hp1 HG01993.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18947.hp1 NA18947.hp2 NA18953.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18979.hp1 NA18979.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA19064.hp1 NA19064.hp2 NA19081.hp1 NA19081.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0008 a0012 a0013 a0014 a0015	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0029 a0001c0034 a0001c0035 a0001c0040 a0001c0041 a0002c0015 a0002c0017 a0002c0018 a0002c0019 a0002c0036 a0004c0009 a0004c0026 a0005c0011 a0005c0027 a0008c0022 a0012c0031 a0013c0030 a0014c0025 a0015c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(65): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0036 a0001c0001t0037 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0051 a0001c0002t0060 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0009 a0001c0003t0021 a0001c0003t0042 a0001c0003t0050 a0001c0003t0053 a0001c0004t0018 a0001c0004t0028 a0001c0004t0055 a0001c0005t0003 a0001c0006t0027 a0001c0006t0049 a0001c0007t0001 a0001c0007t0012 a0001c0007t0016 a0001c0012t0017 a0001c0029t0046 a0001c0034t0058 a0001c0035t0001 a0001c0040t0026 a0001c0041t0025 a0002c0015t0012 a0002c0017t0007 a0002c0018t0004 a0002c0019t0031 a0002c0036t0004 a0004c0009t0005 a0004c0026t0001 a0005c0011t0003 a0005c0027t0008 a0008c0022t0010 a0012c0031t0001 a0013c0030t0014 a0014c0025t0018 a0015c0024t0028	a0001c0001t0001g0045 a0001c0001t0002g0067 a0001c0001t0002g0102 others(86): Show a0001c0001t0001g0045 a0001c0001t0002g0067 a0001c0001t0002g0102 a0001c0001t0006g0106 a0001c0001t0006g0122 a0001c0001t0006g0124 a0001c0001t0006g0137 a0001c0001t0007g0028 a0001c0001t0011g0077 a0001c0001t0011g0150 a0001c0001t0012g0056 a0001c0001t0014g0084 a0001c0001t0017g0136 a0001c0001t0018g0033 a0001c0001t0019g0042 a0001c0001t0025g0004 a0001c0001t0029g0090 a0001c0001t0030g0142 a0001c0001t0036g0089 a0001c0001t0037g0158 a0001c0001t0059g0147 a0001c0002t0001g0005 a0001c0002t0001g0018 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0002g0082 a0001c0002t0005g0123 a0001c0002t0006g0112 a0001c0002t0008g0081 a0001c0002t0009g0134 a0001c0002t0010g0007 a0001c0002t0020g0020 a0001c0002t0020g0041 a0001c0002t0021g0080 a0001c0002t0022g0086 a0001c0002t0022g0092 a0001c0002t0023g0064 a0001c0002t0023g0098 a0001c0002t0024g0138 a0001c0002t0051g0157 a0001c0002t0060g0146 a0001c0003t0001g0019 a0001c0003t0002g0088 a0001c0003t0003g0065 a0001c0003t0005g0120 a0001c0003t0005g0128 a0001c0003t0009g0110 a0001c0003t0009g0119 a0001c0003t0021g0155 a0001c0003t0042g0107 a0001c0003t0050g0012 a0001c0003t0053g0058 a0001c0004t0018g0096 a0001c0004t0028g0148 a0001c0004t0055g0095 a0001c0005t0003g0066 a0001c0005t0003g0068 a0001c0005t0003g0097 a0001c0006t0027g0050 a0001c0006t0027g0052 a0001c0006t0049g0108 a0001c0007t0001g0029 a0001c0007t0012g0154 a0001c0007t0016g0135 a0001c0012t0017g0109 a0001c0012t0017g0117 a0001c0029t0046g0143 a0001c0034t0058g0149 a0001c0035t0001g0001 a0001c0040t0026g0027 a0001c0041t0025g0156 a0002c0015t0012g0047 a0002c0015t0012g0054 a0002c0017t0007g0049 a0002c0017t0007g0060 a0002c0018t0004g0046 a0002c0018t0004g0048 a0002c0019t0031g0071 a0002c0036t0004g0010 a0004c0009t0005g0132 a0004c0026t0001g0022 a0005c0011t0003g0073 a0005c0011t0003g0078 a0005c0027t0008g0072 a0008c0022t0010g0061 a0012c0031t0001g0051 a0013c0030t0014g0083 a0014c0025t0018g0030 a0015c0024t0028g0017	89	158	0.5633	-35	c.298 others(56): Show c.2984-49005_2984-48971delGTGTGCATTGAAACCTTTACTTCA TTTCCAAGAAG		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176872893	CAACACCA others(28): Show CAACACCACAGCTTCCCATCTGCCCACACTCACCCA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	268	0.0037	-35	c.887 others(52): Show c.887-1073_887-1039delACACCACAGCTTCCCATCTGCCCACACT CACCCAA		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC93A_chr6_167286315_167321014	167295453	GCCTCCCT others(28): Show GCCTCCCTCGTGCTCCTCGCCTCCCTCGTGAACCTC	G G	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0357 a0002c0002t0005g0357	1	448	0.0022	-35	c.270 others(50): Show c.270-578_270-544delCCTCCCTCGTGCTCCTCGCCTCCCTCGTGA ACCTC		UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7						chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295471	GCCTCCCT others(28): Show GCCTCCCTCGTGAACCTCGCCTCCCTCGTGATCCTC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG01243.hp2 others(14): Show HG00438.hp2 HG00621.hp2 HG01243.hp2 HG02129.hp1 HG02523.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG03486.hp1 NA18939.hp2 NA18946.hp1 NA18959.hp1 NA18965.hp2 NA18969.hp2 NA19004.hp1 NA19007.hp2 NA19079.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0013 a0002c0002 others(3): Show a0001c0001 a0001c0013 a0002c0002 a0003c0003 a0003c0009 a0003c0046	a0001c0001t0001 a0001c0001t0011 a0001c0013t0001 others(4): Show a0001c0001t0001 a0001c0001t0011 a0001c0013t0001 a0002c0002t0004 a0003c0003t0003 a0003c0009t0001 a0003c0046t0003	a0001c0001t0001g0241 a0001c0001t0001g0313 a0001c0001t0001g0314 others(13): Show a0001c0001t0001g0241 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0011g0321 a0001c0013t0001g0322 a0001c0013t0001g0337 a0002c0002t0004g0319 a0003c0003t0003g0048 a0003c0003t0003g0323 a0003c0003t0003g0332 a0003c0009t0001g0336 a0003c0046t0003g0320	17	448	0.0380	-35	c.270 others(50): Show c.270-560_270-526delCCTCCCTCGTGAACCTCGCCTCCCTCGTGA TCCTC		UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7						chr6	TogoVar
UPP2_chr2_158096876_158141154	158104964	AGGGAAGG others(28): Show AGGGAAGGGAAGGGAAGAGAAGGGAAGGGAAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG00733.hp1 others(48): Show HG00544.hp1 HG00621.hp2 HG00733.hp1 HG00738.hp1 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG02257.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18971.hp1 NA18980.hp1 NA18987.hp1 NA19003.hp1 NA19007.hp2 NA19011.hp2 NA19059.hp1 NA19068.hp2 NA19074.hp1 NA19080.hp2 NA19090.hp2 NA20300.hp1 NA21309.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0003 a0002c0010 others(1): Show a0002c0002 a0002c0003 a0002c0010 a0005c0008	a0002c0002t0003 a0002c0002t0004 a0002c0002t0014 others(3): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0014 a0002c0003t0005 a0002c0010t0013 a0005c0008t0003	a0002c0002t0003g0002 a0002c0002t0003g0006 a0002c0002t0003g0013 others(24): Show a0002c0002t0003g0002 a0002c0002t0003g0006 a0002c0002t0003g0013 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0003g0050 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0004g0008 a0002c0002t0004g0010 a0002c0002t0004g0046 a0002c0002t0004g0047 a0002c0002t0004g0048 a0002c0002t0004g0049 a0002c0002t0004g0061 a0002c0002t0004g0068 a0002c0002t0014g0065 a0002c0003t0005g0011 a0002c0003t0005g0012 a0002c0003t0005g0051 a0002c0010t0013g0045 a0005c0008t0003g0013	51	342	0.1491	-35	c.63- others(50): Show c.63-1130_63-1096delAGGGAAGGGAAGAGAAGGGAAGGGAAGGGA GGGGA		UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
UQCC1_chr20_35297578_35416973	35411953	AGCAACGC others(28): Show AGCAACGCCATGTTCCTCAATAACCATTTCCGGGTG	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	NA19087.hp1 NA19087.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0009 a0006c0008t0009	a0006c0008t0009g0001 a0006c0008t0009g0001	1	256	0.0039	-35	c.-25 others(41): Show c.-25_10delCACCCGGAAATGGTTATTGAGGAACATGGCGTTGC	p.Met others(3): Show p.Met1fs	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/10	20/2267	1/900	1/299			chr20	TogoVar
USH2A_chr1_215617891_216428448	215814162	AATTATAT others(28): Show AATTATATAAAATTTTAATTTTATATCTTTTATTTT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0026 a0026	a0026c0041 a0026c0041	a0026c0041t0004 a0026c0041t0004	a0026c0041t0004g0026 a0026c0041t0004g0026	1	74	0.0135	-35	c.957 others(52): Show c.9571-293_9571-259delAAAATAAAAGATATAAAATTAAAATTTT ATATAAT		USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	48/71						chr1	TogoVar

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