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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
TYSND1_chr10_70132981_70151700	70133125	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	458	0.0022	-27	c.67 others(38): Show c.6772_*6798delCTCTCTCTCTCTCTCTCTCTCTCTCTC	TYSND1	ENSG00000156521.14	transcript	ENST00000287078.7	protein_coding		4855		chr10	TogoVar
U2SURP_chr3_142996570_143065725	143015769	AATATCAA others(20): Show AATATCAAGATTCTTCTGAGCTTTCTTT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0344 a0001c0001t0003g0344	1	378	0.0027	-27	c.322 others(42): Show c.322-463_322-437delTTTATATCAAGATTCTTCTGAGCTTTC	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
UBA6_chr4_67607652_67706155	67641663	TCTTGAAC others(20): Show TCTTGAACTCCTAACCCCCTAATTAGGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00558.hp1 others(72): Show HG00323.hp1 HG00423.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01258.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp1 HG03017.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03942.hp2 NA18906.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18960.hp2 NA18965.hp1 NA18977.hp2 NA18979.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA19005.hp1 NA19057.hp1 NA19066.hp2 NA19067.hp2 NA19075.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19086.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0002c0004 a0002c0010 others(4): Show a0002c0003 a0002c0004 a0002c0010 a0002c0011 a0002c0012 a0003c0005 a0004c0009	a0002c0003t0002 a0002c0003t0006 a0002c0003t0014 others(14): Show a0002c0003t0002 a0002c0003t0006 a0002c0003t0014 a0002c0003t0018 a0002c0003t0019 a0002c0003t0025 a0002c0003t0026 a0002c0004t0011 a0002c0004t0012 a0002c0004t0021 a0002c0004t0046 a0002c0010t0018 a0002c0011t0037 a0002c0012t0021 a0003c0005t0002 a0003c0005t0014 a0004c0009t0051	a0002c0003t0002g0003 a0002c0003t0002g0016 a0002c0003t0002g0018 others(63): Show a0002c0003t0002g0003 a0002c0003t0002g0016 a0002c0003t0002g0018 a0002c0003t0002g0252 a0002c0003t0002g0254 a0002c0003t0002g0258 a0002c0003t0002g0259 a0002c0003t0002g0263 a0002c0003t0002g0265 a0002c0003t0002g0267 a0002c0003t0002g0268 a0002c0003t0002g0269 a0002c0003t0002g0270 a0002c0003t0002g0273 a0002c0003t0002g0274 a0002c0003t0002g0275 a0002c0003t0002g0276 a0002c0003t0002g0277 a0002c0003t0002g0278 a0002c0003t0002g0279 a0002c0003t0002g0280 a0002c0003t0002g0281 a0002c0003t0002g0283 a0002c0003t0002g0287 a0002c0003t0002g0291 a0002c0003t0002g0292 a0002c0003t0002g0293 a0002c0003t0002g0294 a0002c0003t0002g0295 a0002c0003t0002g0296 a0002c0003t0002g0298 a0002c0003t0006g0001 a0002c0003t0006g0017 a0002c0003t0006g0256 a0002c0003t0006g0264 a0002c0003t0006g0271 a0002c0003t0006g0284 a0002c0003t0006g0285 a0002c0003t0006g0288 a0002c0003t0006g0290 a0002c0003t0006g0297 a0002c0003t0014g0260 a0002c0003t0014g0266 a0002c0003t0018g0262 a0002c0003t0019g0253 a0002c0003t0019g0255 a0002c0003t0025g0286 a0002c0003t0026g0289 a0002c0004t0011g0026 a0002c0004t0011g0027 a0002c0004t0011g0028 a0002c0004t0011g0030 a0002c0004t0011g0031 a0002c0004t0012g0022 a0002c0004t0012g0023 a0002c0004t0012g0024 a0002c0004t0012g0025 a0002c0004t0021g0257 a0002c0004t0046g0032 a0002c0010t0018g0261 a0002c0011t0037g0021 a0002c0012t0021g0029 a0003c0005t0002g0019 a0003c0005t0002g0272 a0003c0005t0014g0282 a0004c0009t0051g0299	75	324	0.2315	-27	c.147 others(44): Show c.1477-462_1477-436delGCCTAATTAGGGGGTTAGGAGTTCAAG	UBA6	ENSG00000033178.13	transcript	ENST00000322244.10	protein_coding	17/32			chr4	TogoVar
UBA6_chr4_67607652_67706155	67687006	CGTTTTTA others(20): Show CGTTTTTACATAAAATCTTTAAGACTAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	324	0.0031	-27	c.135 others(44): Show c.135-4820_135-4794delATAGTCTTAAAGATTTTATGTAAAAAC	UBA6	ENSG00000033178.13	transcript	ENST00000322244.10	protein_coding	2/32			chr4	TogoVar
UBAP2_chr9_33916693_34053887	33939813	GGGAGGAG others(20): Show GGGAGGAGGAAGGGGGGGAGGAGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01993.hp1 HG03486.hp2 HG01099.hp2 HG01993.hp1 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0295 a0001c0003t0001g0301 a0001c0003t0001g0335 a0001c0003t0001g0295 a0001c0003t0001g0301 a0001c0003t0001g0335	3	356	0.0084	-27	c.192 others(46): Show c.1929+1809_1929+1835delTCCCCCTCCTCCCCCCCTTCCTCCTC C	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	16/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	33939816	AGGAGGAA others(20): Show AGGAGGAAGGGGGGGAGGAGGGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp1 others(25): Show HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01175.hp1 HG01175.hp2 HG01358.hp1 HG01516.hp2 HG02258.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG04204.hp2 NA19043.hp1	a0002 a0008 a0019 a0002 a0008 a0019	a0002c0001 a0008c0010 a0019c0025 a0002c0001 a0008c0010 a0019c0025	a0002c0001t0002 a0002c0001t0003 a0002c0001t0007 others(2): Show a0002c0001t0002 a0002c0001t0003 a0002c0001t0007 a0008c0010t0002 a0019c0025t0002	a0002c0001t0002g0048 a0002c0001t0002g0049 a0002c0001t0002g0051 others(25): Show a0002c0001t0002g0048 a0002c0001t0002g0049 a0002c0001t0002g0051 a0002c0001t0002g0053 a0002c0001t0002g0055 a0002c0001t0002g0056 a0002c0001t0002g0058 a0002c0001t0002g0059 a0002c0001t0002g0061 a0002c0001t0002g0062 a0002c0001t0002g0063 a0002c0001t0002g0064 a0002c0001t0002g0065 a0002c0001t0002g0068 a0002c0001t0002g0069 a0002c0001t0002g0070 a0002c0001t0002g0086 a0002c0001t0002g0089 a0002c0001t0002g0090 a0002c0001t0002g0242 a0002c0001t0002g0247 a0002c0001t0002g0248 a0002c0001t0002g0249 a0002c0001t0002g0250 a0002c0001t0003g0257 a0002c0001t0007g0060 a0008c0010t0002g0057 a0019c0025t0002g0050	28	356	0.0787	-27	c.192 others(46): Show c.1929+1806_1929+1832delCCCTCCCCCTCCTCCCCCCCTTCCTC C	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	16/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34016364	CAGCGGCG others(20): Show CAGCGGCGGTGGTGGTGGTGGTGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0337 a0016c0019t0001g0337	1	356	0.0028	-27	c.99+ others(40): Show c.99+659_99+685delACCACCACCACCACCACCACCGCCGCT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	2/28			chr9	TogoVar
UBASH3A_chr21_42398902_42452684	42399354	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG03471.hp2 HG02280.hp2 HG03471.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0010 a0001c0009t0002g0010	2	408	0.0049	-27	c.-45 others(38): Show c.-4591_-4565delAAAAAAAAAAAAAAAAAAAAAAAAAAA	UBASH3A	ENSG00000160185.15	transcript	ENST00000319294.11	protein_coding		4547		chr21	TogoVar
UBE2E2_chr3_23198327_23596794	23457907	TGATGTGG others(20): Show TGATGTGGCTGGTTTGATCTATTCAGAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG02040.hp2 others(10): Show HG00558.hp1 HG00639.hp1 HG02040.hp2 HG02080.hp1 HG04184.hp1 NA18943.hp1 NA18945.hp2 NA18951.hp2 NA18967.hp1 NA18969.hp1 NA18975.hp2 NA19009.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0018 a0001c0001t0001 a0001c0001t0010 a0001c0001t0018	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0093 others(10): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0141 a0001c0001t0010g0101 a0001c0001t0018g0098 a0001c0001t0018g0099	13	336	0.0387	-27	c.228 others(46): Show c.228-41700_228-41674delGATGTGGCTGGTTTGATCTATTCAGA C	UBE2E2	ENSG00000182247.11	transcript	ENST00000396703.6	protein_coding	3/5			chr3	TogoVar
UBE2E2_chr3_23198327_23596794	23506057	AAAGAAGA others(20): Show AAAGAAGAAAGTTGAATGTGTTTCCCAG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02976.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0002 a0001c0001t0001g0050 a0001c0001t0001g0051	3	336	0.0089	-27	c.360 others(44): Show c.360+6320_360+6346delGAAGAAAGTTGAATGTGTTTCCCAGAA	UBE2E2	ENSG00000182247.11	transcript	ENST00000396703.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2H_chr7_129825732_129957960	129870830	GAACTCAA others(20): Show GAACTCAACCCTGCCTGCCACTTGGCCC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp2 HG02622.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0027 a0001c0001t0007g0273 a0001c0001t0003g0027 a0001c0001t0007g0273	2	290	0.0069	-27	c.205 others(44): Show c.205+8711_205+8737delGGGCCAAGTGGCAGGCAGGGTTGAGTT	UBE2H	ENSG00000186591.13	transcript	ENST00000355621.8	protein_coding	3/6			chr7	TogoVar
UBE2Q2_chr15_75838447_75906078	75844525	TGTAAGCC others(20): Show TGTAAGCCTCGAAAATGGATAGGTGAAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG02056.hp1 HG00558.hp2 HG00621.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271	3	356	0.0084	-27	c.180 others(42): Show c.180+681_180+707delTAAGCCTCGAAAATGGATAGGTGAAAG	UBE2Q2	ENSG00000140367.12	transcript	ENST00000267938.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
UBE3A_chr15_25328728_25444024	25398762	TTCTTTTA others(20): Show TTCTTTTATTTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0062 a0001c0001t0043g0062	1	298	0.0034	-27	c.62+ others(42): Show c.62+6672_62+6698delTATATATATATATATATAAATAAAAGA	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	4/12			chr15	TogoVar
UBE3C_chr7_157133926_157274370	157152179	GGCTGGGA others(20): Show GGCTGGGAGGAAGGTAGTCAGGGACAGA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG04115.hp2 HG03516.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0090 a0001c0003t0002g0127 a0001c0001t0002g0090 a0001c0003t0002g0127	2	322	0.0062	-27	c.67- others(44): Show c.67-11607_67-11581delCAGAGCTGGGAGGAAGGTAGTCAGGGA	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBE3C_chr7_157133926_157274370	157254917	AGCGTGGT others(20): Show AGCGTGGTGGCGTACACCTGCAGTCCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00597.hp1 others(72): Show HG00140.hp1 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00735.hp1 HG01074.hp1 HG01106.hp2 HG01168.hp1 HG01433.hp2 HG01928.hp2 HG01981.hp1 HG02027.hp2 HG02055.hp1 HG02080.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG06807.hp1 NA18747.hp2 NA18943.hp2 NA18947.hp1 NA18949.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18989.hp2 NA19000.hp2 NA19003.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19074.hp1 NA19077.hp2 NA19083.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0010 a0001c0012 a0001c0014 a0001c0019 a0002c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0024 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0011 a0001c0002t0017 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0008 a0001c0008t0002 a0001c0010t0002 a0001c0012t0008 a0001c0014t0028 a0001c0019t0003 a0002c0007t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0014 others(72): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0165 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0006g0162 a0001c0001t0013g0318 a0001c0001t0013g0320 a0001c0001t0014g0087 a0001c0001t0014g0097 a0001c0001t0021g0089 a0001c0001t0024g0149 a0001c0001t0030g0021 a0001c0002t0001g0197 a0001c0002t0001g0285 a0001c0002t0001g0291 a0001c0002t0002g0244 a0001c0002t0008g0204 a0001c0002t0008g0283 a0001c0002t0011g0315 a0001c0002t0011g0316 a0001c0002t0017g0314 a0001c0003t0001g0120 a0001c0003t0002g0125 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0003g0101 a0001c0003t0003g0110 a0001c0003t0003g0112 a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0116 a0001c0003t0003g0117 a0001c0003t0003g0133 a0001c0003t0008g0122 a0001c0008t0002g0152 a0001c0010t0002g0150 a0001c0012t0008g0155 a0001c0014t0028g0319 a0001c0019t0003g0154 a0002c0007t0002g0131	75	322	0.2329	-27	c.295 others(44): Show c.2950+661_2950+687delGGCGTGGTGGCGTACACCTGCAGTCCC	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBL3_chr13_29759371_29855617	29835124	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	392	0.0026	-27	c.27+ others(44): Show c.27+14361_27+14387delATATATATATATATATATATATATATT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBP1_chr3_33383336_33445405	33426011	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp2 HG01496.hp1 others(8): Show HG01109.hp2 HG01255.hp2 HG01496.hp1 HG02004.hp1 HG02148.hp1 HG02273.hp2 HG02698.hp1 HG03834.hp1 NA18612.hp1 NA18984.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0301 others(6): Show a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0004g0307	11	352	0.0313	-27	c.114 others(42): Show c.114-297_114-271delATATATATATATATATATATATATATA	UBP1	ENSG00000153560.12	transcript	ENST00000283629.8	protein_coding	1/15			chr3	TogoVar
UBR4_chr1_19069510_19215266	19200493	TGGGTGGA others(20): Show TGGGTGGATCACTTCGGGAGGCTGAGGC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	326	0.0031	-27	c.275 others(42): Show c.275-766_275-740delGCCTCAGCCTCCCGAAGTGATCCACCC	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	2/105			chr1	TogoVar
UHRF2_chr9_6408199_6512054	6428533	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	318	0.0031	-27	c.385 others(44): Show c.385-5369_385-5343delTTTTTTTTTTTTTTTTTTTTTTTTTTT	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
ULK4_chr3_41241599_41967103	41605464	ACATAAAA others(20): Show ACATAAAATAAATTTCAGGACAAGGAGT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0050 a0011c0018t0001g0050	1	72	0.0139	-27	c.312 others(48): Show c.3120+10178_3120+10204delACTCCTTGTCCTGAAATTTATTTT ATG	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	31/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7673310	TAGCAGCA others(20): Show TAGCAGCAGCAGCAGCAGCAGCAGCAGC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02976.hp1 HG02109.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0080 a0001c0001t0079 a0001c0001t0080	a0001c0001t0079g0150 a0001c0001t0080g0147 a0001c0001t0079g0150 a0001c0001t0080g0147	2	250	0.0080	-27	c.-27 others(33): Show c.-27_-1delGCAGCAGCAGCAGCAGCAGCAGCAGCA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/4	1	INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847099	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04204.hp2 HG03017.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0015 a0002c0003t0001 a0001c0001t0015 a0002c0003t0001	a0001c0001t0015g0142 a0002c0003t0001g0047 a0001c0001t0015g0142 a0002c0003t0001g0047	2	250	0.0080	-27	c.157 others(46): Show c.157-30180_157-30154delAAAAATATATATATATATATATATAT A	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847101	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG01081.hp2 others(9): Show HG00140.hp1 HG00597.hp2 HG01081.hp2 HG01168.hp2 HG01175.hp2 HG01346.hp2 HG02135.hp1 HG02451.hp2 HG02735.hp1 NA18952.hp2 NA18984.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0023 a0001c0002t0001	a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0114 others(9): Show a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0114 a0001c0001t0001g0187 a0001c0001t0001g0212 a0001c0001t0003g0174 a0001c0001t0003g0206 a0001c0001t0004g0091 a0001c0001t0006g0176 a0001c0001t0011g0065 a0001c0001t0023g0245 a0001c0002t0001g0196	12	250	0.0480	-27	c.157 others(46): Show c.157-30178_157-30152delAAATATATATATATATATATATATAT A	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847103	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00733.hp2 others(14): Show HG00140.hp2 HG00639.hp1 HG00733.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG02004.hp2 HG02602.hp2 HG02970.hp1 HG03041.hp1 HG03490.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp1 NA18975.hp1 NA18986.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0020 a0001c0001t0028 a0001c0001t0032 a0001c0001t0042 a0001c0002t0073	a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0242 others(14): Show a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0242 a0001c0001t0002g0030 a0001c0001t0003g0175 a0001c0001t0003g0181 a0001c0001t0006g0093 a0001c0001t0006g0096 a0001c0001t0006g0184 a0001c0001t0008g0071 a0001c0001t0009g0021 a0001c0001t0015g0139 a0001c0001t0020g0216 a0001c0001t0028g0018 a0001c0001t0032g0113 a0001c0001t0042g0157 a0001c0002t0073g0241	17	250	0.0680	-27	c.157 others(46): Show c.157-30176_157-30150delATATATATATATATATATATATATAT A	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847105	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01109.hp2 others(5): Show HG00741.hp2 HG01069.hp1 HG01109.hp2 HG01192.hp2 HG01261.hp1 HG01361.hp1 HG01928.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 others(5): Show a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0028 a0001c0001t0034 a0001c0001t0046 a0001c0001t0050	a0001c0001t0010g0140 a0001c0001t0016g0127 a0001c0001t0017g0182 others(5): Show a0001c0001t0010g0140 a0001c0001t0016g0127 a0001c0001t0017g0182 a0001c0001t0023g0249 a0001c0001t0028g0178 a0001c0001t0034g0177 a0001c0001t0046g0138 a0001c0001t0050g0136	8	250	0.0320	-27	c.157 others(46): Show c.157-30175_157-30149delTATATATATATATATATATATATATA T	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3			chr7	TogoVar
UNC13D_chr17_75822225_75849404	75824129	TCTGGGAG others(20): Show TCTGGGAGCACACTGTTGAGCTCGGTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0179 a0002c0001t0001g0179	1	412	0.0024	-27	c.38 others(38): Show c.3809_*3835delGTACCGAGCTCAACAGTGTGCTCCCAG	UNC13D	ENSG00000092929.13	transcript	ENST00000207549.9	protein_coding		3095		chr17	TogoVar
UNC5A_chr5_176805559_176885898	176859556	GTCCTTGC others(20): Show GTCCTTGCTAGAGGGCATGGCTGCTAGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0053 a0001c0001t0001g0054	2	268	0.0075	-27	c.71- others(42): Show c.71-3067_71-3041delTCCTTGCTAGAGGGCATGGCTGCTAGA	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14			chr5	TogoVar
UNC5D_chr8_35230475_35801540	35300446	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp1 HG02630.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0025 a0001c0003t0003 a0001c0001t0025 a0001c0003t0003	a0001c0001t0025g0026 a0001c0003t0003g0009 a0001c0001t0025g0026 a0001c0003t0003g0009	2	64	0.0313	-27	c.103 others(46): Show c.103+64581_103+64607delAAAAAAAAAAAAAAAAAAAAAAAAAA A	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93558593	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0189 a0001c0016t0001g0189	1	193	0.0052	-27	c.175 others(48): Show c.1756-13283_1756-13257delTTTTTTTTTTTTTTTTTTTTTTTT TTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	14/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNG_chr12_109092597_109115992	109105584	GTTTCTCC others(20): Show GTTTCTCCTTTTCTCATCCATGCTTCAC	G G	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	452	0.0022	-27	c.801 others(44): Show c.801+1975_801+2001delTTCTCCTTTTCTCATCCATGCTTCACT	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
UPK3BL2_chr7_102532919_102548696	102539979	TGCCCCTA others(20): Show TGCCCCTACTGTTTGACCGGAGCCTCTG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0103 a0001c0013t0001g0103	1	182	0.0055	-27	c.562 others(39): Show c.562+9_562+35delCAGAGGCTCCGGTCAAACAGTAGGGGC	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding	4/5			chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102540874	AAAGAAGA others(20): Show AAAGAAGAAAAGGAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0117 a0001c0001t0017g0117	1	182	0.0055	-27	c.485 others(42): Show c.485+192_485+218delCTTTTTTTTTTTTTTCCTTTTCTTCTT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding	3/5			chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102540879	AGAAAAGG others(20): Show AGAAAAGGAAAAAAAAAAAAAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG02135.hp1 others(1): Show HG00099.hp2 HG01070.hp1 HG02135.hp1 HG03927.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0004 a0008c0011 a0001c0001 a0003c0004 a0008c0011	a0001c0001t0009 a0003c0004t0004 a0008c0011t0009 a0001c0001t0009 a0003c0004t0004 a0008c0011t0009	a0001c0001t0009g0114 a0003c0004t0004g0033 a0003c0004t0004g0034 others(1): Show a0001c0001t0009g0114 a0003c0004t0004g0033 a0003c0004t0004g0034 a0008c0011t0009g0113	4	182	0.0220	-27	c.485 others(42): Show c.485+187_485+213delCTTCTCTTTTTTTTTTTTTTCCTTTTC	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding	3/5			chr7	TogoVar
UQCC1_chr20_35297578_35416973	35307108	GTAGCAGC others(20): Show GTAGCAGCAATGCTCCCCCTGCTGTCCA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0002 a0004c0004t0001g0002	1	256	0.0039	-27	c.652 others(42): Show c.652-356_652-330delTGGACAGCAGGGGGAGCATTGCTGCTA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	8/9			chr20	TogoVar
URI1_chr19_29937239_30021612	29985119	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(71): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01109.hp1 HG01168.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01433.hp2 HG01516.hp2 HG01934.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp2 HG02976.hp2 HG03490.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18942.hp2 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18971.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA19007.hp1 NA19007.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19075.hp1 NA19075.hp2 NA19084.hp2 NA19087.hp1 NA20905.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0008 others(1): Show a0001c0001 a0001c0004 a0001c0008 a0005c0010	a0001c0001t0001 a0001c0001t0011 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0004t0001 a0001c0008t0001 a0005c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0054 a0001c0001t0001g0056 others(70): Show a0001c0001t0001g0002 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0011g0219 a0001c0004t0001g0092 a0001c0008t0001g0086 a0005c0010t0001g0059	74	328	0.2256	-27	c.153 others(40): Show c.153-72_153-46delAAAAAAAAAAAAAAAAAAAAAAAAAAA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
URI1_chr19_29937239_30021612	29985151	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	328	0.0031	-27	c.153 others(40): Show c.153-66_153-40delAAAAAAAAAAAAAAAAAAAAAGAAAAA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
USH2A_chr1_215617891_216428448	215742433	TATGTTAT others(20): Show TATGTTATATATGATATACACATATATC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0072 a0072	a0072c0023 a0072c0023	a0072c0023t0004 a0072c0023t0004	a0072c0023t0004g0013 a0072c0023t0004g0013	1	74	0.0135	-27	c.115 others(46): Show c.11548+717_11548+743delGATATATGTGTATATCATATATAACA T	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	59/71			chr1	TogoVar
USP10_chr16_84695000_84784922	84697682	TATATATA others(20): Show TATATATATATATATATATATATATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00597.hp1 others(40): Show HG00280.hp2 HG00438.hp1 HG00597.hp1 HG01071.hp2 HG01169.hp1 HG01255.hp2 HG02145.hp1 HG02155.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02698.hp2 HG02886.hp1 HG02895.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03669.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 NA18906.hp2 NA18942.hp2 NA18948.hp2 NA18954.hp2 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18984.hp2 NA18986.hp2 NA18992.hp2 NA19009.hp2 NA19012.hp1 NA19057.hp2 NA19070.hp2 NA19079.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0006 a0001c0007 a0001c0022 others(8): Show a0001c0006 a0001c0007 a0001c0022 a0002c0001 a0002c0004 a0002c0027 a0002c0034 a0003c0003 a0003c0032 a0004c0014 a0004c0018	a0001c0006t0001 a0001c0007t0001 a0001c0007t0004 others(12): Show a0001c0006t0001 a0001c0007t0001 a0001c0007t0004 a0001c0022t0001 a0002c0001t0001 a0002c0001t0002 a0002c0004t0001 a0002c0004t0002 a0002c0027t0001 a0002c0034t0001 a0003c0003t0001 a0003c0003t0003 a0003c0032t0001 a0004c0014t0002 a0004c0018t0001	a0001c0006t0001g0168 a0001c0007t0001g0044 a0001c0007t0001g0045 others(39): Show a0001c0006t0001g0168 a0001c0007t0001g0044 a0001c0007t0001g0045 a0001c0007t0001g0050 a0001c0007t0001g0054 a0001c0007t0001g0105 a0001c0007t0004g0043 a0001c0022t0001g0052 a0002c0001t0001g0184 a0002c0001t0001g0186 a0002c0001t0001g0189 a0002c0001t0001g0202 a0002c0001t0001g0215 a0002c0001t0002g0183 a0002c0001t0002g0190 a0002c0001t0002g0193 a0002c0001t0002g0194 a0002c0001t0002g0195 a0002c0001t0002g0196 a0002c0001t0002g0197 a0002c0001t0002g0199 a0002c0001t0002g0206 a0002c0001t0002g0207 a0002c0001t0002g0212 a0002c0004t0001g0003 a0002c0004t0001g0021 a0002c0004t0001g0188 a0002c0004t0001g0191 a0002c0004t0001g0198 a0002c0004t0001g0201 a0002c0004t0001g0203 a0002c0004t0002g0200 a0002c0027t0001g0211 a0002c0034t0001g0204 a0003c0003t0001g0051 a0003c0003t0003g0049 a0003c0003t0003g0364 a0003c0032t0001g0053 a0004c0014t0002g0208 a0004c0014t0002g0209 a0004c0018t0001g0213 a0004c0018t0001g0214	43	430	0.1000	-27	c.-24 others(38): Show c.-2408_-2382delATATATATATATATATATATATATATG	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding		2317		chr16	TogoVar
USP32_chr17_60172327_60397133	60349597	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01891.hp1 HG01346.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0044 a0001c0001t0001g0050	2	152	0.0132	-27	c.59- others(42): Show c.59-4016_59-3990delATATATATATATATATATATATATATA	USP32	ENSG00000170832.13	transcript	ENST00000300896.9	protein_coding	1/33			chr17	TogoVar
USP32_chr17_60172327_60397133	60349618	TATATATT others(20): Show TATATATTATATATATATATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0140 a0001c0010t0007g0140	1	152	0.0066	-27	c.59- others(42): Show c.59-4037_59-4011delTAATATATATATATATATATAATATAT	USP32	ENSG00000170832.13	transcript	ENST00000300896.9	protein_coding	1/33			chr17	TogoVar
USP40_chr2_233470526_233571782	233567062	TCTTATAT others(20): Show TCTTATATAAGATTATAGCTATATGATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00558.hp1 others(138): Show HG00099.hp2 HG00323.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0007 a0012 a0015 a0016 a0017 a0025	a0001c0001 a0001c0014 a0002c0002 others(11): Show a0001c0001 a0001c0014 a0002c0002 a0002c0008 a0003c0003 a0004c0004 a0004c0013 a0006c0006 a0007c0007 a0012c0035 a0015c0031 a0016c0024 a0017c0025 a0025c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0024 a0001c0014t0005 a0002c0002t0001 a0002c0008t0009 a0003c0003t0001 a0003c0003t0002 a0004c0004t0003 a0004c0004t0008 a0004c0013t0003 a0006c0006t0004 a0007c0007t0004 a0012c0035t0001 a0015c0031t0022 a0016c0024t0001 a0017c0025t0001 a0025c0034t0021	a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0043 others(136): Show a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0295 a0001c0001t0002g0166 a0001c0001t0002g0232 a0001c0001t0005g0297 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0308 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 a0001c0001t0005g0313 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0007g0300 a0001c0001t0007g0307 a0001c0001t0007g0314 a0001c0001t0007g0315 a0001c0001t0007g0316 a0001c0001t0007g0319 a0001c0001t0024g0306 a0001c0014t0005g0301 a0001c0014t0005g0302 a0002c0002t0001g0293 a0002c0008t0009g0119 a0002c0008t0009g0120 a0002c0008t0009g0122 a0002c0008t0009g0123 a0003c0003t0001g0170 a0003c0003t0002g0003 a0003c0003t0002g0139 a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0142 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0003t0002g0146 a0003c0003t0002g0147 a0003c0003t0002g0149 a0003c0003t0002g0150 a0003c0003t0002g0151 a0003c0003t0002g0152 a0003c0003t0002g0153 a0003c0003t0002g0154 a0003c0003t0002g0155 a0003c0003t0002g0156 a0003c0003t0002g0157 a0003c0003t0002g0158 a0003c0003t0002g0159 a0003c0003t0002g0160 a0003c0003t0002g0162 a0003c0003t0002g0163 a0003c0003t0002g0164 a0003c0003t0002g0167 a0003c0003t0002g0168 a0003c0003t0002g0169 a0003c0003t0002g0171 a0003c0003t0002g0172 a0003c0003t0002g0285 a0004c0004t0003g0060 a0004c0004t0003g0065 a0004c0004t0003g0073 a0004c0004t0008g0069 a0004c0004t0008g0080 a0004c0013t0003g0051 a0004c0013t0003g0068 a0006c0006t0004g0028 a0006c0006t0004g0030 a0006c0006t0004g0031 a0006c0006t0004g0039 a0007c0007t0004g0029 a0007c0007t0004g0032 a0007c0007t0004g0034 a0007c0007t0004g0035 a0007c0007t0004g0036 a0007c0007t0004g0037 a0007c0007t0004g0040 a0012c0035t0001g0107 a0015c0031t0022g0283 a0016c0024t0001g0087 a0017c0025t0001g0211 a0025c0034t0021g0106	141	324	0.4352	-27	c.-42 others(36): Show c.-425_-399delGATCATATAGCTATAATCTTATATAAG	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		281		chr2	TogoVar
USP46_chr4_52585960_52664301	52609898	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02572.hp1 others(8): Show HG02257.hp1 HG02280.hp1 HG02572.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp2 HG03486.hp1 HG03579.hp1 NA18522.hp1 NA18906.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0100 a0001c0002t0003g0017 a0001c0002t0003g0018 others(8): Show a0001c0001t0001g0100 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026	11	192	0.0573	-27	c.638 others(42): Show c.638+616_638+642delAAAAAAAAAAAAAAAAAAAAAAAAAAA	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	5/8			chr4	TogoVar
USP46_chr4_52585960_52664301	52658854	GGGGGGCG others(20): Show GGGGGGCGCAGCAGCGCGGCCCCGGGAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	192	0.0052	-27	c.36+ others(40): Show c.36+234_36+260delATCCCGGGGCCGCGCTGCTGCGCCCCC	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8			chr4	TogoVar
USP9Y_chrY_12696231_12865839	12807338	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	131	0.0076	-27	c.398 others(46): Show c.3984-2824_3984-2798delTTTTTTTTTTTTTTTTTTTTTTTTTT T	USP9Y	ENSG00000114374.13	transcript	ENST00000338981.7	protein_coding	27/45		INFO_REALIGN_3_PRIME	chrY	TogoVar
UST_chr6_148742030_149081990	148949409	ATAATAAT others(20): Show ATAATAATAATAATAATAATAATAATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01243.hp2 HG01261.hp2 others(12): Show HG00673.hp2 HG01243.hp2 HG01261.hp2 HG01981.hp2 HG02523.hp1 HG02602.hp1 HG03239.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 NA18944.hp1 NA18944.hp2 NA18960.hp2 NA18970.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0004c0006t0003	a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0050 others(12): Show a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0173 a0001c0001t0001g0198 a0001c0001t0002g0079 a0001c0001t0002g0113 a0001c0001t0002g0178 a0001c0001t0003g0098 a0001c0001t0003g0191 a0001c0001t0004g0027 a0001c0001t0004g0138 a0001c0001t0004g0152 a0004c0006t0003g0092	15	210	0.0714	-27	c.448 others(44): Show c.448-4460_448-4434delATAATAATAATAATAATAATAATATTA	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UST_chr6_148742030_149081990	149042956	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18964.hp2 NA19002.hp2 NA18960.hp2 NA18964.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0050 a0001c0001t0001g0094 a0001c0001t0017g0158 a0001c0001t0001g0050 a0001c0001t0001g0094 a0001c0001t0017g0158	3	210	0.0143	-27	c.937 others(46): Show c.937+21478_937+21504delCTTTCTTTCTTTCTTTCTTTCTTTCT T	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTP20_chr12_101275105_101391618	101340937	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01257.hp1 HG02735.hp2 others(2): Show HG01168.hp1 HG01257.hp1 HG02735.hp2 NA18982.hp2 NA20805.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0016 a0001c0001 a0011c0016	a0001c0001t0002 a0001c0001t0006 a0011c0016t0002 a0001c0001t0002 a0001c0001t0006 a0011c0016t0002	a0001c0001t0002g0166 a0001c0001t0002g0333 a0001c0001t0002g0352 others(2): Show a0001c0001t0002g0166 a0001c0001t0002g0333 a0001c0001t0002g0352 a0001c0001t0006g0314 a0011c0016t0002g0321	5	356	0.0140	-27	c.410 others(44): Show c.4101+356_4101+382delTTTTTTTTTTTTTTTTTTTTTTTTTTT	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	32/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTRN_chr6_144280335_144858034	144699879	TTGTATAT others(20): Show TTGTATATATGTATATCATACATATATA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0001 a0001c0033t0001g0001	1	128	0.0078	-27	c.765 others(44): Show c.7653-198_7653-172delGTATATCATACATATATATGTATATAT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144744385	ATTATGTA others(20): Show ATTATGTATAATATATACATAATTTTAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03492.hp1 HG03579.hp1 HG00140.hp1 HG03492.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0003 a0001c0002t0005 a0001c0003t0003	a0001c0002t0005g0119 a0001c0003t0003g0089 a0001c0003t0003g0104 a0001c0002t0005g0119 a0001c0003t0003g0089 a0001c0003t0003g0104	3	128	0.0234	-27	c.794 others(46): Show c.7940-3797_7940-3771delATATATACATAATTTTACTTATGTAT A	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	54/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTS2R_chr17_82366765_82382458	82379431	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0007 a0001c0003t0012g0007	1	384	0.0026	-27	c.39 others(38): Show c.3938_*3964delAAAAAAAAAAAAAAAAAAAAAAAAAAA	UTS2R	ENSG00000181408.5	transcript	ENST00000313135.5	protein_coding		1974		chr17	TogoVar

Search by Variant

Search

Search Results (Total: 3848 hits)