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
UGT1A6_chr2_233687890_233778300	233757535	A A	AATATATA others(33): Show AATATATATACATATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0135 a0004c0003t0001g0135	1	332	0.0030	40	c.862 others(57): Show c.862-9490_862-9489insCATATACATATATATATATATATATATA TATATATATATA		UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233757535	A A	AATATATA others(33): Show AATATATATACATATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0021 a0003c0004t0001g0021	1	320	0.0031	40	c.856 others(57): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TATATATATATA		UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233757535	A A	AATATATA others(33): Show AATATATATACATATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	290	0.0035	40	c.856 others(57): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TATATATATATA		UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233757535	A A	AATATATA others(33): Show AATATATATACATATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	318	0.0031	40	c.856 others(57): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TATATATATATA		UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT3A2_chr5_36030021_36071882	36067865	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	410	0.0024	40	c.-10 others(51): Show c.-1077_-1076insTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT		UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding					984		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36068938	G G	GGGAGGGA others(33): Show GGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01884.hp2 HG02109.hp1 others(6): Show HG01346.hp1 HG01884.hp2 HG02109.hp1 HG02258.hp1 HG02630.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0217 a0001c0001t0004g0005 a0001c0001t0004g0217	9	410	0.0220	40	c.-21 others(51): Show c.-2150_-2149insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCC		UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding					2057		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36068942	A A	AGGAAGGA others(33): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0130 a0001c0001t0014g0130	1	410	0.0024	40	c.-21 others(51): Show c.-2154_-2153insGTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCC		UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding					2061		chr5	TogoVar
UHRF2_chr9_6408199_6512054	6469681	T T	TATATATA others(33): Show TATATATATACACGTATATACATATATATACACGTATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp2 HG03225.hp1 others(1): Show HG02818.hp2 HG02895.hp2 HG03225.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0136 a0001c0001t0001g0145 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0001g0146	4	318	0.0126	40	c.864 others(57): Show c.864-5687_864-5686insTATATACACGTATATACATATATATACA CGTATATACATA		UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr9	TogoVar
ULK1_chr12_131889622_131928150	131926409	C C	CGCTCCTC others(33): Show CGCTCCTCACTTCCCAGACGGGGTGGCTGCCGGGCGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp1 others(69): Show HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG01071.hp1 HG01109.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02165.hp1 HG02523.hp2 HG02922.hp1 HG03130.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG06807.hp2 NA18747.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp2 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18983.hp1 NA18991.hp2 NA18998.hp2 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19084.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0013	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0020 a0001c0023 a0002c0004 a0009c0025 a0013c0037	a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 others(15): Show a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0003t0009 a0001c0003t0011 a0001c0003t0015 a0001c0003t0017 a0001c0003t0019 a0001c0003t0026 a0001c0006t0003 a0001c0006t0004 a0001c0006t0029 a0001c0020t0003 a0001c0023t0003 a0002c0004t0003 a0009c0025t0003 a0013c0037t0003	a0001c0001t0003g0162 a0001c0003t0002g0248 a0001c0003t0003g0227 others(69): Show a0001c0001t0003g0162 a0001c0003t0002g0248 a0001c0003t0003g0227 a0001c0003t0003g0228 a0001c0003t0003g0230 a0001c0003t0003g0231 a0001c0003t0003g0232 a0001c0003t0003g0233 a0001c0003t0003g0234 a0001c0003t0003g0236 a0001c0003t0003g0240 a0001c0003t0003g0241 a0001c0003t0003g0243 a0001c0003t0003g0244 a0001c0003t0003g0245 a0001c0003t0003g0249 a0001c0003t0003g0250 a0001c0003t0003g0251 a0001c0003t0003g0252 a0001c0003t0003g0254 a0001c0003t0003g0255 a0001c0003t0003g0256 a0001c0003t0003g0257 a0001c0003t0003g0259 a0001c0003t0003g0260 a0001c0003t0003g0261 a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0003g0267 a0001c0003t0003g0268 a0001c0003t0003g0269 a0001c0003t0003g0270 a0001c0003t0003g0271 a0001c0003t0003g0273 a0001c0003t0003g0274 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0287 a0001c0003t0003g0288 a0001c0003t0003g0290 a0001c0003t0003g0291 a0001c0003t0003g0292 a0001c0003t0003g0293 a0001c0003t0003g0294 a0001c0003t0003g0296 a0001c0003t0003g0297 a0001c0003t0003g0298 a0001c0003t0003g0299 a0001c0003t0003g0300 a0001c0003t0003g0301 a0001c0003t0007g0226 a0001c0003t0007g0242 a0001c0003t0007g0275 a0001c0003t0009g0229 a0001c0003t0009g0246 a0001c0003t0009g0266 a0001c0003t0011g0235 a0001c0003t0011g0265 a0001c0003t0015g0237 a0001c0003t0015g0272 a0001c0003t0017g0285 a0001c0003t0019g0258 a0001c0003t0026g0289 a0001c0006t0003g0170 a0001c0006t0004g0186 a0001c0006t0029g0184 a0001c0020t0003g0264 a0001c0023t0003g0238 a0002c0004t0003g0174 a0002c0004t0003g0175 a0009c0025t0003g0295 a0013c0037t0003g0286	72	344	0.2093	40	c.50 others(51): Show c.5048_*5049insGCTCCTCACTTCCCAGACGGGGTGGCTGCCGGGC GGAGGG		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding					3260		chr12	TogoVar
ULK1_chr12_131889622_131928150	131926411	C C	CTCCTCAC others(33): Show CTCCTCACTTCCCAGACGGGGTGGCTATACATAGTGATGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0253 a0001c0003t0003g0253	1	344	0.0029	40	c.50 others(51): Show c.5050_*5051insTCCTCACTTCCCAGACGGGGTGGCTATACATAGT GATGTT		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding					3262		chr12	TogoVar
ULK1_chr12_131889622_131928150	131926422	C C	CCAGACGG others(33): Show CCAGACGGGGTGGCTGCCGGGCGGAGGGGCTCCTCACTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02622.hp1 HG02647.hp1 others(1): Show HG02280.hp1 HG02622.hp1 HG02647.hp1 NA19030.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0021 a0007c0029 a0001c0002 a0001c0021 a0007c0029	a0001c0002t0001 a0001c0002t0003 a0001c0021t0003 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0021t0003 a0007c0029t0002	a0001c0002t0001g0035 a0001c0002t0003g0088 a0001c0021t0003g0315 others(1): Show a0001c0002t0001g0035 a0001c0002t0003g0088 a0001c0021t0003g0315 a0007c0029t0002g0314	4	344	0.0116	40	c.50 others(51): Show c.5061_*5062insCAGACGGGGTGGCTGCCGGGCGGAGGGGCTCCTC ACTTCT		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding					3273		chr12	TogoVar
ULK1_chr12_131889622_131928150	131926422	C C	CCAGACGG others(33): Show CCAGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG02809.hp1 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0057 a0001c0002t0001g0029 a0001c0002t0001g0057	2	344	0.0058	40	c.50 others(51): Show c.5061_*5062insCAGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTC ACTTCT		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding					3273		chr12	TogoVar
ULK4_chr3_41241599_41967103	41311960	A A	ATTTATTT others(33): Show ATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG06807.hp2 HG02622.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0051 a0001c0001t0001g0052	2	72	0.0278	40	c.367 others(61): Show c.3679-62387_3679-62386insATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAA		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41891017	G G	GGGAGGGG others(33): Show GGGAGGGGGAAGGAAGGGACGGGAGGGGGAAAGAAGGGACA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0025 a0007c0007t0001g0025	1	72	0.0139	40	c.157 others(59): Show c.1577+4500_1577+4501insTGTCCCTTCTTTCCCCCTCCCGTCCC TTCCTTCCCCCTCC		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36						chr3	TogoVar
UMODL1_chr21_42066317_42147996	42137509	G G	GAAACCCC others(33): Show GAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02717.hp1 HG02717.hp1	a0097 a0097	a0097c0107 a0097c0107	a0097c0107t0001 a0097c0107t0001	a0097c0107t0001g0147 a0097c0107t0001g0147	1	400	0.0025	40	c.384 others(49): Show c.3846_3847insAAACCCCATCTCTACTAAAAATACAAAAAATTAGCC GGGA	p.Leu others(6): Show p.Leu1283fs	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	22/23	3847/4879	3847/3957	1283/1318			chr21	TogoVar
UMOD_chr16_20328051_20357715	20345502	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0063 a0001c0003t0001g0063	1	404	0.0025	40	c.118 others(57): Show c.1182+623_1182+624insAAGGAAGGAAGGAAGGAAGGAAGGGAGG GAGGGAGGGAGG		UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10						chr16	TogoVar
UMOD_chr16_20328051_20357715	20345502	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0172 a0003c0007t0004g0172	1	404	0.0025	40	c.118 others(57): Show c.1182+623_1182+624insAAGGAAGGAAGGAAGGAAGGAAGGAAGG GAGGGAGGGAGG		UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10						chr16	TogoVar
UMPS_chr3_124725452_124754273	124750642	C C	CGGGCGGA others(33): Show CGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	434	0.0023	40	c.65 others(51): Show c.6558_*6559insGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCG GCTGCT		UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding					1370		chr3	TogoVar
UNC13A_chr19_17596336_17693354	17631184	T T	TTCCTTCC others(33): Show TTCCTTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0272 a0001c0004t0004g0272	1	320	0.0031	40	c.342 others(57): Show c.3429-435_3429-434insGGGAGGAAGGAAGGAAAGGAGGGAGGGA GGGAGGGAAGGA		UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43						chr19	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0022 a0022	a0022c0043 a0022c0043	a0022c0043t0005 a0022c0043t0005	a0022c0043t0005g0153 a0022c0043t0005g0153	1	224	0.0045	40	c.152 others(55): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0026 a0001c0003t0010g0026	1	158	0.0063	40	c.493 others(61): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT ATATATATATATATAT		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0005 a0004c0009t0005	a0004c0009t0005g0132 a0004c0009t0005g0132	1	158	0.0063	40	c.493 others(61): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTATATATATATAT		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0029 a0001c0007t0001g0029	1	158	0.0063	40	c.493 others(61): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATATATATAT		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0065 a0001c0003t0003g0065	1	158	0.0063	40	c.493 others(61): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTATATAT		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC45B_chr17_35142817_35194343	35175060	G G	GAAGAAAG others(33): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02280.hp1 HG02083.hp1 HG02280.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0003 a0001c0009 a0002c0003	a0001c0009t0003 a0002c0003t0006 a0001c0009t0003 a0002c0003t0006	a0001c0009t0003g0165 a0002c0003t0006g0114 a0001c0009t0003g0165 a0002c0003t0006g0114	2	434	0.0046	40	c.195 others(57): Show c.1958+719_1958+720insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA		UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	14/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC5C_chr4_95157504_95553973	95256699	A A	AATATATA others(33): Show AATATATATATATATATAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00597.hp1 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0017 a0002c0002 a0002c0017	a0002c0002t0002 a0002c0017t0005 a0002c0002t0002 a0002c0017t0005	a0002c0002t0002g0062 a0002c0017t0005g0086 a0002c0002t0002g0062 a0002c0017t0005g0086	2	204	0.0098	40	c.595 others(57): Show c.595-6033_595-6032insATATATATATATATATATATATTTATAT ATATATATATAT		UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15						chr4	TogoVar
UNC5C_chr4_95157504_95553973	95256714	A A	ATAAATAT others(33): Show ATAAATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0023 a0001c0005t0001g0023	1	204	0.0049	40	c.595 others(57): Show c.595-6048_595-6047insCATATATATATATATATATATATATATA TATATATATTTA		UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15						chr4	TogoVar
UNC5C_chr4_95157504_95553973	95256714	A A	ATATAAAT others(33): Show ATATAAATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0176	1	204	0.0049	40	c.595 others(57): Show c.595-6048_595-6047insCATATATATATATATATATATATATATA TATATATTTATA		UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15						chr4	TogoVar
UNC5D_chr8_35230475_35801540	35587965	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	64	0.0156	40	c.467 others(57): Show c.467-7560_467-7559insTATATATATATATATATATATATATATA TATATATATATA		UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC93B1_chr11_67986100_68009097	67987276	T T	TAAAATAA others(33): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	370	0.0027	40	c.42 others(51): Show c.4269_*4270insTTTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTT		UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding					3823		chr11	TogoVar
UNK_chr17_75779806_75830799	75803126	C C	CGGTGGCT others(33): Show CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCCA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18947.hp2 NA18945.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0146 a0001c0001t0001g0149	2	358	0.0056	40	c.105 others(57): Show c.105-6596_105-6595insCAGGTGGCTCACACCTGTAATCCCAGCA CTTTGGGAGGCC		UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr17	TogoVar
UPK1A_chr19_35661517_35683481	35670500	C C	CCTCCCCT others(33): Show CCTCCCCTCCCCTCGCCTCCTCTCCCCTCCCCTCGCCTCCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02723.hp1 NA18944.hp1 others(3): Show HG00438.hp2 HG02723.hp1 NA18944.hp1 NA18950.hp1 NA18968.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0197 a0001c0001t0002g0017 a0001c0001t0002g0230 a0001c0001t0001g0197 a0001c0001t0002g0017 a0001c0001t0002g0230	6	420	0.0143	40	c.285 others(57): Show c.285+1879_285+1880insGCCTCCTCTCCCCTCCCCTCGCCTCCTC TCCCCTCCCCTC		UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
UPK1A_chr19_35661517_35683481	35680685	A A	AATAAATA others(33): Show AATAAATAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18971.hp1 NA19084.hp1 NA18946.hp1 NA18971.hp1 NA19084.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0004 a0003c0005t0002g0049 a0003c0005t0002g0004 a0003c0005t0002g0049	3	420	0.0071	40	c.26 others(51): Show c.2666_*2667insATAAATAAATATATATATATATATATATATATAT ATATAT		UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding					2205		chr19	TogoVar
URGCP_chr7_43870913_43911596	43894678	C C	CAAAATCA others(33): Show CAAAATCATCTGTGCCTGGCCAAAAAATTTCTTAAAAATCA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0211 a0001c0003t0003g0211	1	404	0.0025	40	c.15- others(55): Show c.15-6863_15-6862insTGATTTTTAAGAAATTTTTTGGCCAGGCAC AGATGATTTT		URGCP	ENSG00000106608.17	transcript	ENST00000453200.6	protein_coding	1/5						chr7	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0001 a0001c0072t0001	a0001c0072t0001g0050 a0001c0072t0001g0050	1	74	0.0135	40	c.113 others(57): Show c.11390-52_11390-51insCACATATATATATATATATATATATATA TATATATATATA		USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71						chr1	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0071 a0071	a0071c0005 a0071c0005	a0071c0005t0002 a0071c0005t0002	a0071c0005t0002g0022 a0071c0005t0002g0022	1	74	0.0135	40	c.113 others(57): Show c.11390-52_11390-51insCACACACACACATATATATATATATATA TATATATATATA		USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71						chr1	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0054 a0007c0054	a0007c0054t0003 a0007c0054t0003	a0007c0054t0003g0071 a0007c0054t0003g0071	1	74	0.0135	40	c.113 others(57): Show c.11390-52_11390-51insCACACACACACACATATATATATATATA TATATATATATA		USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71						chr1	TogoVar
USH2A_chr1_215617891_216428448	215836508	A A	ATATATAT others(33): Show ATATATATTATATATATATATATAATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0047 a0047	a0047c0004 a0047c0004	a0047c0004t0012 a0047c0004t0012	a0047c0004t0012g0020 a0047c0004t0012g0020	1	74	0.0135	40	c.937 others(59): Show c.9371+1482_9371+1483insATATATATAATATATATTATATATAT ATATATAATATATA		USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	47/71						chr1	TogoVar
USH2A_chr1_215617891_216428448	215912493	G G	GTGTATAT others(33): Show GTGTATATATATATATATGTATATATATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02698.hp2 HG02922.hp1 others(1): Show HG02572.hp2 HG02698.hp2 HG02922.hp1 HG03139.hp1	a0021 a0028 a0051 others(1): Show a0021 a0028 a0051 a0054	a0021c0070 a0028c0022 a0051c0018 others(1): Show a0021c0070 a0028c0022 a0051c0018 a0054c0016	a0021c0070t0001 a0028c0022t0001 a0051c0018t0003 others(1): Show a0021c0070t0001 a0028c0022t0001 a0051c0018t0003 a0054c0016t0001	a0021c0070t0001g0052 a0028c0022t0001g0002 a0051c0018t0003g0012 others(1): Show a0021c0070t0001g0052 a0028c0022t0001g0002 a0051c0018t0003g0012 a0054c0016t0001g0009	4	74	0.0541	40	c.730 others(61): Show c.7301-11589_7301-11588insTATATATACACATATATATATACA TATATATATATATACA		USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	38/71						chr1	TogoVar
USP10_chr16_84695000_84784922	84749327	G G	GTTTCATT others(33): Show GTTTCATTAAAAGATCTGTTGATGTGGGTTATAATAGAGTT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0390 a0001c0006t0001g0390	1	430	0.0023	40	c.119 others(59): Show c.1192+3656_1192+3695dupTTCATTAAAAGATCTGTTGATGTGGG TTATAATAGAGTTT		USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
USP13_chr3_179648040_179794401	179775321	A A	ATGTAGTG others(33): Show ATGTAGTGTGTGTGGGGTTGTGGGGGAGAGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0008 a0001c0001t0038g0008	1	300	0.0033	40	c.241 others(59): Show c.2414-6418_2414-6417insTGTAGTGTGTGTGGGGTTGTGGGGGA GAGGGGGGGGGGGG		USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	19/20						chr3	TogoVar
USP22_chr17_20994596_21048011	21042357	A A	AAGGAGGG others(33): Show AAGGAGGGGGAGGGGACAGAGAGGAGGGGGAGGGGACAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0264 a0001c0002t0006g0264	1	356	0.0028	40	c.171 others(55): Show c.171+268_171+307dupCTCTGTCCCCTCCCCCTCCTCTCTGTCCCC TCCCCCTCCT		USP22	ENSG00000124422.12	transcript	ENST00000261497.9	protein_coding	1/12						chr17	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	252	0.0040	40	c.-77 others(59): Show c.-77+25840_-77+25841insAAAAAAAATATATATATATATATATA TATATATATATATA		USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5						chrX	TogoVar
USP38_chr4_143179917_143228874	143184836	A A	AGGCGGAG others(33): Show AGGCGGAGGGGCGGAGGGGCGGAGGGGCGGAGGGGCGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03139.hp1 HG02976.hp1 HG03139.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0003 a0006c0010t0013 a0001c0001t0003 a0006c0010t0013	a0001c0001t0003g0004 a0006c0010t0013g0118 a0001c0001t0003g0004 a0006c0010t0013g0118	2	258	0.0078	40	c.-61 others(49): Show c.-615_-614insGGCGGAGGGGCGGAGGGGCGGAGGGGCGGAGGGGCG GAGG		USP38	ENSG00000170185.11	transcript	ENST00000307017.9	protein_coding					80		chr4	TogoVar
USP3_chr15_63499593_63599633	63580641	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	234	0.0043	40	c.109 others(59): Show c.1096+6248_1096+6249insATATATATATATATATATATATATAT ATATATATATATAT		USP3	ENSG00000140455.17	transcript	ENST00000380324.8	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
USP46_chr4_52585960_52664301	52632918	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp2 NA18946.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0049 a0001c0001t0001g0053	2	192	0.0104	40	c.37- others(55): Show c.37-1814_37-1775dupTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT		USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8						chr4	TogoVar
USP49_chr6_41784896_41900375	41798282	A A	ATTTTTTT others(33): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0073 a0001c0001t0004g0073	1	384	0.0026	40	c.187 others(57): Show c.1876+441_1876+442insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA		USP49	ENSG00000164663.15	transcript	ENST00000682992.1	protein_coding	7/7						chr6	TogoVar
USP50_chr15_50495562_50551666	50525580	A A	ATATGTAT others(33): Show ATATGTATATATGTATATGTATATATGTATATGTATATATG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0373 a0001c0001t0001g0373	1	384	0.0026	40	c.936 others(57): Show c.936+4216_936+4217insCATATATACATATACATATATACATATA CATATATACATA		USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	6/6						chr15	TogoVar
USP50_chr15_50495562_50551666	50537891	G G	GAGGGAAG others(33): Show GAGGGAAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0372 a0001c0001t0001g0372	1	384	0.0026	40	c.803 others(55): Show c.803+817_803+818insTCCCTTCCCTTCCCTTCCCTCCCCTCCCCT CCCCTTCCCT		USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6						chr15	TogoVar
USP50_chr15_50495562_50551666	50537896	G G	GAGGGGAG others(33): Show GAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02040.hp1 NA18939.hp1 others(3): Show HG00558.hp1 HG02040.hp1 NA18939.hp1 NA18961.hp1 NA18983.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0094 others(3): Show a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097	6	384	0.0156	40	c.803 others(55): Show c.803+812_803+813insTCCCTTCCCTTCCCTTCCCTTCCCTCCCCT CCCCTCCCCT		USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6						chr15	TogoVar

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