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
TTLL5_chr14_75656246_75960079	75843877	G G	GTTTTGTT others(28): Show GTTTTGTTTTGTTTTGTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03139.hp1 HG06807.hp2 HG03130.hp1 HG03139.hp1 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0192 a0002c0003t0002g0196 a0002c0003t0002g0198 a0002c0003t0002g0192 a0002c0003t0002g0196 a0002c0003t0002g0198	3	198	0.0152	35	c.332 others(56): Show c.3327-19786_3327-19785insGTTTTGTTTTGTTTTATTTTATTT TATTTTATTTT	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75874933	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	198	0.0051	35	c.352 others(54): Show c.3523-7734_3523-7733insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	29/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	198	0.0051	35	c.382 others(56): Show c.3823+11810_3823+11811insAAAAAAAAAAAAATATATATATAT ATATATATATA	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL8_chr22_50013575_50063298	50057516	G G	GGGGATCA others(28): Show GGGGATCAGGTCTGGATTGTGGGTCAGGTCTGGGTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03098.hp1 NA20129.hp1 HG01255.hp1 HG03098.hp1 NA20129.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0004 a0002c0002 a0003c0003 a0004c0004	a0002c0002t0002 a0003c0003t0001 a0004c0004t0001 a0002c0002t0002 a0003c0003t0001 a0004c0004t0001	a0002c0002t0002g0136 a0003c0003t0001g0135 a0004c0004t0001g0134 a0002c0002t0002g0136 a0003c0003t0001g0135 a0004c0004t0001g0134	3	224	0.0134	35	c.-38 others(50): Show c.-38-544_-38-543insAACCCAGACCTGACCCACAATCCAGACCTG ATCCC	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	1/13			chr22	TogoVar
TTLL9_chr20_31865634_31950000	31887855	C C	CCTCTTCT others(28): Show CCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02056.hp2 HG02145.hp2 others(9): Show HG02055.hp2 HG02056.hp2 HG02145.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02723.hp2 HG02965.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0007 a0001c0001 a0001c0002 a0008c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0002t0001 a0001c0002t0017 a0008c0007t0008	a0001c0001t0002g0182 a0001c0001t0003g0036 a0001c0001t0003g0058 others(9): Show a0001c0001t0002g0182 a0001c0001t0003g0036 a0001c0001t0003g0058 a0001c0001t0003g0196 a0001c0001t0003g0209 a0001c0001t0003g0237 a0001c0001t0021g0224 a0001c0002t0001g0052 a0001c0002t0001g0210 a0001c0002t0001g0246 a0001c0002t0017g0031 a0008c0007t0008g0238	12	264	0.0455	35	c.113 others(50): Show c.113+632_113+666dupCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTT	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890150	C C	CTTCTTCT others(28): Show CTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0173 a0001c0001t0005g0173	1	264	0.0038	35	c.113 others(52): Show c.113+2914_113+2915insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890194	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	264	0.0038	35	c.113 others(52): Show c.113+2963_113+2964insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TCTTTCT	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TUBA1B_chr12_49122782_49136395	49123757	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA18962.hp1 HG00408.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	384	0.0052	35	c.42 others(46): Show c.4200_*4201insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	TUBA1B	ENSG00000123416.15	transcript	ENST00000336023.9	protein_coding		4024		chr12	TogoVar
TUBGCP5_chr15_22994177_23044569	23043136	G G	GTGGGGCC others(28): Show GTGGGGCCATCATAACCCCAGCTAGCCGGAAGTGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	351	0.0029	35	c.-35 others(46): Show c.-3594_-3593insAGCACTTCCGGCTAGCTGGGGTTATGATGGCCCC A	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3568		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23043448	G G	GGACAACA others(28): Show GGACAACATAACCACACCTGGCCAGAGGTGCCCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02965.hp2 HG03139.hp1 others(2): Show HG02723.hp2 HG02965.hp2 HG03139.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 others(2): Show a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0004g0128	5	351	0.0143	35	c.-39 others(46): Show c.-3906_-3905insTCCGGGCACCTCTGGCCAGGTGTGGTTATGTTGT C	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3880		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23044102	G G	GTGCTGGG others(28): Show GTGCTGGGGGGTATCATAATCTGACCTGGCCAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	351	0.0029	35	c.-45 others(46): Show c.-4560_-4559insTGTCTGGCCAGGTCAGATTATGATACCCCCCAGC A	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4534		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23044102	G G	GTGCTGGG others(28): Show GTGCTGGGGGGTATCATAATCTGACCTGGCCAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01167.hp1 others(22): Show HG00140.hp2 HG00642.hp1 HG01167.hp1 HG01256.hp2 HG01258.hp2 HG02040.hp2 HG02698.hp2 HG02886.hp1 HG03239.hp2 HG03486.hp1 HG03669.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 NA18948.hp2 NA18955.hp2 NA18964.hp2 NA18966.hp2 NA18983.hp1 NA19057.hp1 NA19070.hp1 NA19078.hp2 NA19085.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0001c0010 others(2): Show a0001c0001 a0001c0007 a0001c0010 a0001c0015 a0003c0006	a0001c0001t0001 a0001c0007t0001 a0001c0010t0001 others(2): Show a0001c0001t0001 a0001c0007t0001 a0001c0010t0001 a0001c0015t0001 a0003c0006t0001	a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0044 others(22): Show a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0206 a0001c0007t0001g0055 a0001c0010t0001g0049 a0001c0015t0001g0272 a0003c0006t0001g0043 a0003c0006t0001g0064	25	351	0.0712	35	c.-45 others(46): Show c.-4560_-4559insTCTCTGGCCAGGTCAGATTATGATACCCCCCAGC A	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4534		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23044102	G G	GTGCTGTG others(28): Show GTGCTGTGGGGTATCATAATCTGACCTGGCCAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	351	0.0029	35	c.-45 others(46): Show c.-4560_-4559insTCTCTGGCCAGGTCAGATTATGATACCCCACAGC A	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4534		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23044111	G G	GGTATCAT others(28): Show GGTATCATAATCTGACCTGGCCAGAGATGCTGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02257.hp1 HG02572.hp2 others(10): Show HG01496.hp2 HG02257.hp1 HG02572.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp1 NA18952.hp1 NA19060.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0030 a0001c0001t0003g0274 others(7): Show a0001c0001t0003g0007 a0001c0001t0003g0030 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286	13	351	0.0370	35	c.-45 others(46): Show c.-4569_-4568insGCCCCAGCATCTCTGGCCAGGTCAGATTATGATA C	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4543		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23044113	T T	TATCACAA others(28): Show TATCACAATCTGACCTGGCCAGAGATGCTGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02132.hp2 NA18947.hp1 others(4): Show HG00597.hp2 HG02132.hp2 NA18947.hp1 NA18955.hp1 NA18980.hp2 NA18994.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0079 a0001c0002t0002g0084 others(3): Show a0001c0002t0002g0003 a0001c0002t0002g0079 a0001c0002t0002g0084 a0001c0002t0002g0097 a0001c0002t0002g0100 a0001c0002t0002g0115	7	351	0.0199	35	c.-45 others(46): Show c.-4571_-4570insTCCCCCCAGCATCTCTGGCCAGGTCAGATTGTGA T	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4545		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23044113	T T	TATCATAA others(28): Show TATCATAATCTGACCTGGCCAGAGATGCTGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00544.hp2 others(46): Show HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00673.hp2 HG00735.hp2 HG01175.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02145.hp1 HG02155.hp1 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG03239.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03831.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18947.hp2 NA18978.hp2 NA18982.hp2 NA18985.hp1 NA18989.hp1 NA18992.hp1 NA18993.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp2 NA19043.hp2 NA19063.hp1 NA19077.hp1 NA19077.hp2 NA19091.hp2 NA20805.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0014 a0001c0001 a0001c0002 a0004c0014	a0001c0001t0001 a0001c0002t0002 a0004c0014t0002 a0001c0001t0001 a0001c0002t0002 a0004c0014t0002	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0021 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0245 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0002t0002g0003 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0031 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0086 a0001c0002t0002g0089 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0098 a0001c0002t0002g0104 a0001c0002t0002g0120 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0254 a0004c0014t0002g0255	49	351	0.1396	35	c.-45 others(46): Show c.-4571_-4570insTCCCCCCAGCATCTCTGGCCAGGTCAGATTATGA T	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4545		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23044113	T T	TATCATAA others(28): Show TATCATAATCTGACCTGGTCAGAGATGCTGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG02683.hp2 HG02922.hp1 others(6): Show HG01943.hp2 HG02683.hp2 HG02922.hp1 HG03130.hp1 HG03130.hp2 HG03490.hp1 HG03710.hp2 NA18972.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0150 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0199 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0258	9	351	0.0256	35	c.-45 others(46): Show c.-4571_-4570insTCCCCCCAGCATCTCTGACCAGGTCAGATTATGA T	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4545		chr15	TogoVar
TVP23A_chr16_10761675_10823794	10762839	A A	AGAGCCTG others(28): Show AGAGCCTGGAGGCGGGGAGGGCGGAGGCCACGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0015 a0001c0001t0013g0015	1	410	0.0024	35	c.62 others(46): Show c.6228_*6262dupCCCACGTGGCCTCCGCCCTCCCCGCCTCCAGGCT C	TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding		3835		chr16	TogoVar
TXNDC16_chr14_52425596_52557505	52530155	A A	AATTTATA others(28): Show AATTTATATATATTATATTATATATAAATATATTAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0193	1	238	0.0042	35	c.392 others(52): Show c.392+6529_392+6563dupATAATATATTTATATATAATATAATATA TATAAAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530352	A A	AATATAAT others(28): Show AATATAATATATATTATATATTATATATAATATTAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0060 a0002c0003t0015g0060	1	238	0.0042	35	c.392 others(52): Show c.392+6366_392+6367insATAATATTATATATAATATATAATATAT ATTATAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNRD1_chr12_104210779_104355307	104229562	C C	CATTTTAT others(28): Show CATTTTATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02148.hp1 NA18963.hp2 others(1): Show HG00140.hp2 HG02148.hp1 NA18963.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0005t0001 a0001c0001t0001 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0082 a0001c0002t0002g0080 a0001c0002t0002g0081 others(1): Show a0001c0001t0001g0082 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0005t0001g0108	4	302	0.0133	35	c.91+ others(52): Show c.91+13674_91+13708dupTATTTTATTTTATTTTATTTTATTTTAT TTTATTT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267268	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	302	0.0033	35	c.304 others(52): Show c.304+9204_304+9205insTTTCTTTCTTTCTTTCTTTCTTCTTTCT TTCTTTC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267280	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	302	0.0033	35	c.304 others(52): Show c.304+9204_304+9205insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TYK2_chr19_10345533_10385572	10372484	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0061 a0003c0004t0002g0061	1	376	0.0027	35	c.194 others(52): Show c.194-4067_194-4066insATATATATATATATATATATATATATAT ATATATA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYK2_chr19_10345533_10385572	10372484	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0060 a0003c0004t0002g0060	1	376	0.0027	35	c.194 others(52): Show c.194-4067_194-4066insAAATATATATATATATATATATATATAT ATATATA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYK2_chr19_10345533_10385572	10372485	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0341 a0001c0001t0002g0341	1	376	0.0027	35	c.194 others(52): Show c.194-4068_194-4067insTATATATATATATATATATATATATATA TATATAT	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYMS_chr18_652653_678578	666897	T T	TGATGGTG others(28): Show TGATGGTGATGGAGATGGTGATGGGATGGTGATGGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0232 a0001c0001t0005g0232	1	482	0.0021	35	c.455 others(52): Show c.455-2170_455-2169insTGATGGAGATGGTGATGGGATGGTGATG GAGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667173	T T	TGATGGTG others(28): Show TGATGGTGATGGAGATGGTGATGGGATGGTGATGGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	482	0.0021	35	c.455 others(52): Show c.455-1888_455-1887insAGATGGTGATGGGATGGTGATGGAGATG GTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYR_chr11_89172875_89300759	89243601	A A	ATCACATC others(28): Show ATCACATCTTTGTATCTGTAGTTTTCTGTGCTCAGG	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	306	0.0033	35	c.118 others(56): Show c.1184+15632_1184+15666dupTCACATCTTTGTATCTGTAGTTTT CTGTGCTCAGG	TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	320	0.0031	35	c.124 others(54): Show c.1246-1589_1246-1588insAAAAATATATATATATATATATATAT ATATATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA6_chr4_67607652_67706155	67635750	T T	TCTTGTTG others(28): Show TCTTGTTGTTCAATCTAGTAATTTCTCTCTTTTCTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(79): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01261.hp2 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01981.hp1 HG01993.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG02280.hp1 HG02523.hp1 HG02572.hp1 HG02622.hp1 HG02647.hp2 HG02738.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03927.hp1 HG06807.hp2 NA18522.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18950.hp1 NA18955.hp2 NA18956.hp1 NA18965.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18991.hp2 NA18993.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19054.hp1 NA19068.hp1 NA19072.hp1 NA19084.hp2 NA19086.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008	a0001c0001t0015 a0001c0002t0003 a0001c0002t0007 others(18): Show a0001c0001t0015 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0016 a0001c0002t0017 a0001c0002t0022 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0047 a0001c0002t0048 a0001c0002t0050 a0001c0007t0049 a0001c0008t0003	a0001c0001t0015g0109 a0001c0001t0015g0120 a0001c0001t0015g0121 others(73): Show a0001c0001t0015g0109 a0001c0001t0015g0120 a0001c0001t0015g0121 a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0047 a0001c0002t0003g0049 a0001c0002t0003g0051 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0065 a0001c0002t0003g0067 a0001c0002t0003g0069 a0001c0002t0003g0071 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0232 a0001c0002t0007g0009 a0001c0002t0007g0083 a0001c0002t0007g0086 a0001c0002t0007g0087 a0001c0002t0007g0088 a0001c0002t0007g0090 a0001c0002t0007g0092 a0001c0002t0007g0093 a0001c0002t0007g0096 a0001c0002t0008g0052 a0001c0002t0008g0055 a0001c0002t0008g0056 a0001c0002t0008g0061 a0001c0002t0008g0066 a0001c0002t0008g0068 a0001c0002t0008g0073 a0001c0002t0008g0077 a0001c0002t0010g0008 a0001c0002t0010g0084 a0001c0002t0010g0089 a0001c0002t0010g0095 a0001c0002t0010g0097 a0001c0002t0010g0098 a0001c0002t0016g0005 a0001c0002t0016g0035 a0001c0002t0017g0007 a0001c0002t0017g0048 a0001c0002t0022g0060 a0001c0002t0022g0079 a0001c0002t0038g0033 a0001c0002t0039g0072 a0001c0002t0040g0050 a0001c0002t0041g0094 a0001c0002t0042g0076 a0001c0002t0043g0085 a0001c0002t0044g0091 a0001c0002t0045g0034 a0001c0002t0047g0070 a0001c0002t0048g0082 a0001c0002t0050g0046 a0001c0007t0049g0078 a0001c0008t0003g0043	82	324	0.2531	35	c.173 others(52): Show c.1737-193_1737-192insTAGAAAAGAGAGAAATTACTAGATTGAA CAACAAG	UBA6	ENSG00000033178.13	transcript	ENST00000322244.10	protein_coding	19/32			chr4	TogoVar
UBAC2_chr13_99195854_99391504	99242636	A A	ACCCCCCC others(28): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGACC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	380	0.0026	35	c.160 others(52): Show c.160-1164_160-1163insACCCCCCCCCACCTCCCTCCCGGACGGG GCGGCTG	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAP2_chr9_33916693_34053887	33980220	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0110 a0002c0001t0002g0110	1	356	0.0028	35	c.520 others(52): Show c.520+6539_520+6540insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0282 a0001c0003t0001g0282	1	356	0.0028	35	c.-42 others(54): Show c.-42+13310_-42+13311insATATATATATATATATATATATTTTT TTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0349 a0001c0003t0001g0349	1	356	0.0028	35	c.-42 others(54): Show c.-42+13310_-42+13311insATATATATATATATATATATATATTT TTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0320 a0001c0003t0001g0320	1	356	0.0028	35	c.-42 others(54): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT TTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG01243.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0341 a0001c0003t0001g0350 a0001c0003t0001g0341 a0001c0003t0001g0350	2	356	0.0056	35	c.-42 others(54): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBE2B_chr5_134366569_134397108	134376340	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18965.hp2 NA18947.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0023 a0001c0001t0001g0024	2	282	0.0071	35	c.126 others(50): Show c.126-329_126-328insTATATATATATATATATATATATATATATA TATAT	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5			chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376344	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00408.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0148 a0001c0001t0001g0072 a0001c0001t0001g0148	2	282	0.0071	35	c.126 others(50): Show c.126-325_126-324insTATATATATATATATATATATATATATATA TATAT	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5			chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	282	0.0036	35	c.126 others(50): Show c.126-320_126-319insAAATATATATATATATATATATATATATAT ATATA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	282	0.0036	35	c.126 others(50): Show c.126-320_126-319insATATATATATATATATATATATATATATAT ATATA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2H_chr7_129825732_129957960	129836879	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	290	0.0035	35	c.428 others(52): Show c.428-1819_428-1818insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	UBE2H	ENSG00000186591.13	transcript	ENST00000355621.8	protein_coding	6/6			chr7	TogoVar
UBE2K_chr4_39693136_39787792	39701001	G G	GATTGCTT others(28): Show GATTGCTTTCTGTGTAGAGAGTTGGGTGTCTGGGGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02572.hp1 HG02723.hp1 others(3): Show HG01255.hp1 HG02572.hp1 HG02723.hp1 HG03041.hp2 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0005g0167 others(3): Show a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0008g0170	6	336	0.0179	35	c.63+ others(50): Show c.63+2614_63+2648dupTGCTTTCTGTGTAGAGAGTTGGGTGTCTGG GGTAT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	336	0.0030	35	c.63+ others(52): Show c.63+16161_63+16162insATATATATATATATATATATATATATAT ATTTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	336	0.0030	35	c.63+ others(52): Show c.63+16161_63+16162insATATATATATATATATATATATATATAT TTTTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	336	0.0030	35	c.63+ others(52): Show c.63+16161_63+16162insATATATATATATATATATATATTTTTTT TTTTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2L5_chr13_30417493_30434758	30422317	C C	CGCCCCTC others(28): Show CGCCCCTCCCAGCCCAGCCCAGCCCAGCCCAGCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG03139.hp1 HG03209.hp1 HG02615.hp2 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0005 a0001c0001t0006g0010 a0001c0001t0003g0005 a0001c0001t0006g0010	3	430	0.0070	35	c.-11 others(46): Show c.-1139_-1138insGCCCCTCCCAGCCCAGCCCAGCCCAGCCCAGCCC A	UBE2L5	ENSG00000236444.5	transcript	ENST00000635918.2	protein_coding		175		chr13	TogoVar
UBE2V1_chr20_50076124_50118150	50079375	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0037 a0001c0001t0011g0037	1	398	0.0025	35	c.33 others(46): Show c.3392_*3393insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	UBE2V1	ENSG00000244687.13	transcript	ENST00000371674.8	protein_coding		1748		chr20	TogoVar
UBE3A_chr15_25328728_25444024	25430125	G G	GATTATAT others(28): Show GATTATATATATATTATATATATAATACATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01167.hp1 HG01169.hp1 others(16): Show HG00099.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01884.hp1 HG02145.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG03516.hp1 HG03688.hp1 HG04184.hp1 HG04228.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 a0001c0001t0028 a0001c0001t0054 a0001c0001t0055	a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 others(16): Show a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0035 a0001c0001t0004g0039 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0006g0027 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0053 a0001c0001t0024g0032 a0001c0001t0024g0052 a0001c0001t0028g0050 a0001c0001t0054g0040 a0001c0001t0055g0046	19	298	0.0638	35	c.-16 others(54): Show c.-165+8329_-165+8363dupATATATATGTATTATATATATAATAT ATATATAAT	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12			chr15	TogoVar
UBR5_chr8_102247273_102417700	102387719	A A	AAAAATGG others(28): Show AAAAATGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03239.hp2 HG02647.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0020 a0001c0001t0001g0022	2	328	0.0061	35	c.62+ others(52): Show c.62+24453_62+24454insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCATTTT	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	1/58			chr8	TogoVar

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Search Results (Total: 4618 hits)