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
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0126 a0001c0003t0003g0126	1	302	0.0033	31	c.243 others(48): Show c.243+2967_243+2968insAAATATATATATATATATATATATATAT ATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267241	C C	CTCTTCTT others(24): Show CTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	302	0.0033	31	c.304 others(48): Show c.304+9166_304+9167insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TYMP_chr22_50520752_50535012	50521319	C C	CTGGGAGG others(24): Show CTGGGAGGGTGGCTGTGTACCCCCTACTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01256.hp2 HG02165.hp2 others(18): Show HG01243.hp1 HG01256.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02622.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03669.hp2 HG04184.hp1 HG06807.hp2 NA19005.hp1 NA20129.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0006 a0004c0009 a0001c0002 a0001c0006 a0004c0009	a0001c0002t0001 a0001c0006t0001 a0004c0009t0001 a0001c0002t0001 a0001c0006t0001 a0004c0009t0001	a0001c0002t0001g0016 a0001c0002t0001g0024 a0001c0002t0001g0028 others(5): Show a0001c0002t0001g0016 a0001c0002t0001g0024 a0001c0002t0001g0028 a0001c0006t0001g0008 a0001c0006t0001g0022 a0001c0006t0001g0036 a0001c0006t0001g0037 a0004c0009t0001g0027	21	412	0.0510	31	c.44 others(42): Show c.4420_*4450dupAAGGAGTAGGGGGTACACAGCCACCCTCCCA	TYMP	ENSG00000025708.14	transcript	ENST00000252029.8	protein_coding		4432		chr22	TogoVar
TYMP_chr22_50520752_50535012	50521339	C C	CCCCTACT others(24): Show CCCCTACTCCTTTGGGAGGGTGGCTGTGTACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(230): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0003c0008 a0005c0012 a0006c0011 a0007c0010	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0003c0008t0001 a0005c0012t0005 a0006c0011t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0002t0001g0039 a0001c0004t0001g0003 a0001c0004t0001g0011 a0001c0004t0001g0032 a0001c0004t0001g0044 a0001c0005t0001g0006 a0003c0008t0001g0041 a0003c0008t0001g0045 a0005c0012t0005g0055 a0006c0011t0001g0043 a0007c0010t0001g0042	233	412	0.5655	31	c.44 others(42): Show c.4430_*4431insAGTACACAGCCACCCTCCCAAAGGAGTAGGG	TYMP	ENSG00000025708.14	transcript	ENST00000252029.8	protein_coding		4412		chr22	TogoVar
TYW1B_chr7_72569513_72833200	72655317	A A	AGGGAGGG others(24): Show AGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0237	1	286	0.0035	31	c.150 others(52): Show c.1507-26321_1507-26320insCCCCCCCCCCCCCCCCCCCCCCCC CCCTCCC	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13			chr7	TogoVar
UACA_chr15_70649554_70768558	70735147	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAATTCTCAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG01109.hp2 others(29): Show HG00408.hp2 HG00609.hp1 HG01109.hp2 HG01361.hp2 HG02004.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02280.hp1 HG02486.hp2 HG02602.hp2 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03540.hp2 HG03704.hp1 HG04204.hp1 NA18950.hp2 NA18960.hp1 NA18962.hp2 NA18966.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA19003.hp2 NA19011.hp1 NA19064.hp1 NA19066.hp2 NA19077.hp1 NA19079.hp1 NA19087.hp2 NA20752.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0007c0011 a0008c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0022 a0001c0003t0001 a0001c0003t0003 a0001c0003t0016 a0001c0004t0001 a0007c0011t0005 a0008c0017t0001	a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0134 others(29): Show a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0003g0289 a0001c0001t0003g0304 a0001c0001t0008g0011 a0001c0001t0022g0287 a0001c0003t0001g0190 a0001c0003t0003g0284 a0001c0003t0016g0170 a0001c0004t0001g0164 a0001c0004t0001g0168 a0001c0004t0001g0221 a0001c0004t0001g0247 a0007c0011t0005g0286 a0008c0017t0001g0131	32	310	0.1032	31	c.78+ others(48): Show c.78+28182_78+28183insTTTTTTTTTGAGAATTTTTTTTTTTTTT TTT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70735147	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAATTCTCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp2 NA18968.hp2 others(1): Show HG01081.hp2 HG01169.hp2 NA18968.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0005 a0001c0001t0001 a0001c0003t0005	a0001c0001t0001g0097 a0001c0001t0001g0173 a0001c0001t0001g0195 others(1): Show a0001c0001t0001g0097 a0001c0001t0001g0173 a0001c0001t0001g0195 a0001c0003t0005g0283	4	310	0.0129	31	c.78+ others(48): Show c.78+28182_78+28183insTTTTTTTTTTGAGAATTTTTTTTTTTTT TTT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UAP1_chr1_162556722_162606240	162577435	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0079 a0001c0006t0007g0079	1	412	0.0024	31	c.485 others(46): Show c.485+455_485+485dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	UAP1	ENSG00000117143.14	transcript	ENST00000367925.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBA2_chr19_34423381_34476251	34456100	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	320	0.0031	31	c.124 others(50): Show c.1245+1549_1245+1550insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0242 a0001c0002t0002g0242	1	320	0.0031	31	c.124 others(50): Show c.1246-1589_1246-1588insAAATATATATATATATATATATATAT ATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBAC2_chr13_99195854_99391504	99330458	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02976.hp1 HG02723.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0104 a0001c0001t0003g0102 a0001c0001t0001g0104 a0001c0001t0003g0102	2	380	0.0053	31	c.562 others(48): Show c.562-9844_562-9843insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99338039	C C	CTTTTTTC others(24): Show CTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0366 a0001c0001t0001g0366	1	380	0.0026	31	c.562 others(48): Show c.562-2275_562-2274insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAP2_chr9_33916693_34053887	33978974	G G	GGGTGAAT others(24): Show GGGTGAATGAATTCTTACTAGCAAGCAGTGGT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0013 a0002c0001t0003g0013	1	356	0.0028	31	c.521 others(48): Show c.521-5738_521-5737insACCACTGCTTGCTAGTAAGAATTCATTC ACC	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	33980220	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19077.hp1 HG03927.hp1 NA19077.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0081 a0002c0001t0002g0088 a0002c0001t0002g0081 a0002c0001t0002g0088	2	356	0.0056	31	c.520 others(48): Show c.520+6539_520+6540insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0340 a0001c0003t0001g0340	1	356	0.0028	31	c.-42 others(50): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBE2B_chr5_134366569_134397108	134376340	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	282	0.0036	31	c.126 others(46): Show c.126-329_126-328insTATATATATATATATATATATATATATATA T	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5			chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	282	0.0036	31	c.126 others(46): Show c.126-320_126-319insAAAAAAATATATATATATATATATATATAT A	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	282	0.0036	31	c.126 others(46): Show c.126-320_126-319insAAAAATATATATATATATATATATATATAT A	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	282	0.0036	31	c.126 others(46): Show c.126-320_126-319insAAATATATATATATATATATATATATATAT A	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(24): Show AAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03704.hp1 HG01943.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0104 a0001c0001t0001g0051 a0001c0001t0001g0104	2	282	0.0071	31	c.126 others(46): Show c.126-320_126-319insATATATATATATATATATATATATATATAT A	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2E2_chr3_23198327_23596794	23571280	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01261.hp1 NA18612.hp2 others(2): Show HG00735.hp2 HG01261.hp1 NA18612.hp2 NA18994.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007	a0001c0001t0003g0150 a0001c0001t0003g0165 a0001c0001t0003g0173 others(2): Show a0001c0001t0003g0150 a0001c0001t0003g0165 a0001c0001t0003g0173 a0001c0001t0006g0148 a0001c0001t0007g0321	5	336	0.0149	31	c.509 others(50): Show c.509-18427_509-18426insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	UBE2E2	ENSG00000182247.11	transcript	ENST00000396703.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2H_chr7_129825732_129957960	129836879	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	290	0.0035	31	c.428 others(48): Show c.428-1849_428-1819dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	UBE2H	ENSG00000186591.13	transcript	ENST00000355621.8	protein_coding	6/6			chr7	TogoVar
UBE2J1_chr6_89321625_89357722	89335072	A A	ATTTTGTA others(24): Show ATTTTGTAATAAGAAAAACATTCCATGCCAGT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	410	0.0024	31	c.558 others(46): Show c.558+199_558+229dupACTGGCATGGAATGTTTTTCTTATTACAAA A	UBE2J1	ENSG00000198833.7	transcript	ENST00000435041.3	protein_coding	6/7			chr6	TogoVar
UBE2J2_chr1_1248912_1278854	1257407	C C	CCCCCCCC others(24): Show CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0014 a0001c0001t0015g0014	1	324	0.0031	31	c.173 others(44): Show c.173-98_173-97insCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding	3/6			chr1	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	336	0.0030	31	c.63+ others(48): Show c.63+16161_63+16162insATATATATATATATATATATATATATTT TTT	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(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	336	0.0030	31	c.63+ others(48): Show c.63+16161_63+16162insATATATATATATATATATATATATTTTT TTT	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(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02056.hp2 HG03490.hp2 HG01255.hp1 HG02056.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0001g0060 a0001c0001t0003g0166 a0001c0001t0001g0019 a0001c0001t0001g0060 a0001c0001t0003g0166	3	336	0.0089	31	c.63+ others(48): Show c.63+16161_63+16162insATATATATATATATATATATATTTTTTT TTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2L3_chr22_21562714_21629034	21598210	T T	TGTGTGTG others(24): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	352	0.0028	31	c.123 others(48): Show c.123+5254_123+5255insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTG	UBE2L3	ENSG00000185651.16	transcript	ENST00000342192.9	protein_coding	2/3			chr22	TogoVar
UBE2R2_chr9_33812160_33925399	33877849	C C	CTCTCTCT others(24): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	366	0.0027	31	c.178 others(48): Show c.178-9032_178-9031insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCT	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4			chr9	TogoVar
UBE2T_chr1_202326657_202346936	202332907	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	370	0.0027	31	c.468 others(45): Show c.468+72_468+102dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UBE2T	ENSG00000077152.12	transcript	ENST00000646651.1	protein_coding	6/6			chr1	TogoVar
UBE2T_chr1_202326657_202346936	202332933	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0080 a0001c0002t0002g0080	1	370	0.0027	31	c.468 others(44): Show c.468+76_468+77insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UBE2T	ENSG00000077152.12	transcript	ENST00000646651.1	protein_coding	6/6			chr1	TogoVar
UBE2T_chr1_202326657_202346936	202342521	T T	TGCTAGGG others(24): Show TGCTAGGGTGCAAGTTTGGATAGATGACAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0257 a0001c0002t0001g0257	1	370	0.0027	31	c.-69 others(40): Show c.-692_-691insTCCTGTCATCTATCCAAACTTGCACCCTAGC	UBE2T	ENSG00000077152.12	transcript	ENST00000646651.1	protein_coding		586		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239157	A A	AAAGAAGA others(24): Show AAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	330	0.0030	31	c.596 others(48): Show c.596-2478_596-2477insAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAA	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2W_chr8_73781219_73883862	73866290	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0022 a0001c0001t0028g0022	1	266	0.0038	31	c.15+ others(48): Show c.15+12517_15+12518insATATATATATATATATATATATATATAT TTT	UBE2W	ENSG00000104343.21	transcript	ENST00000602593.6	protein_coding	1/5			chr8	TogoVar
UBIAD1_chr1_11268198_11293434	11290930	T T	TGTTGGCA others(24): Show TGTTGGCAGTGCAGCCTGCCAACAGCCTGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01891.hp1 others(23): Show HG00741.hp1 HG01109.hp1 HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02559.hp1 HG02622.hp1 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 others(2): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014	a0001c0001t0005g0007 a0001c0001t0005g0011 a0001c0001t0005g0028 others(11): Show a0001c0001t0005g0007 a0001c0001t0005g0011 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0007g0008 a0001c0001t0011g0042 a0001c0001t0011g0043 a0001c0001t0013g0041 a0001c0001t0014g0007	26	364	0.0714	31	c.47 others(42): Show c.4799_*4800insGTTGGCAGTGCAGCCTGCCAACAGCCTGCCA	UBIAD1	ENSG00000120942.14	transcript	ENST00000376810.6	protein_coding		2497		chr1	TogoVar
UBR3_chr2_169822454_170089131	169831127	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0138 a0001c0002t0002g0138	1	324	0.0031	31	c.545 others(48): Show c.545+3076_545+3077insATATATATATATATATATATATATATAT ATT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169831127	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0144 a0001c0002t0002g0144	1	324	0.0031	31	c.545 others(48): Show c.545+3076_545+3077insATATATATATATATATATATATATATAT TTT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169831127	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0115 a0001c0002t0002g0115	1	324	0.0031	31	c.545 others(48): Show c.545+3076_545+3077insATATATATATATATATATATATATTTTT TTT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169831128	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0323 a0001c0002t0002g0323	1	324	0.0031	31	c.545 others(48): Show c.545+3076_545+3077insATATATATATATATATATATATATATAT ATA	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38			chr2	TogoVar
UBR3_chr2_169822454_170089131	170001912	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	324	0.0031	31	c.402 others(48): Show c.4029+528_4029+529insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	27/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR5_chr8_102247273_102417700	102387719	A A	AAAAATGG others(24): Show AAAAATGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp2 HG02145.hp1 others(4): Show HG00738.hp1 HG01074.hp2 HG02145.hp1 HG03098.hp2 HG03209.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0241 a0001c0001t0001g0254	7	328	0.0213	31	c.62+ others(48): Show c.62+24453_62+24454insCCTTCCTTCCTTCCTTCCTTCCTTCCAT TTT	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	1/58			chr8	TogoVar
UCKL1_chr20_63934829_63961416	63956453	C C	CCGCGGAC others(24): Show CCGCGGACTACAAGCCCCACAAGGCCGCGCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG01099.hp2 others(13): Show HG00438.hp2 HG00673.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG02165.hp1 HG02559.hp1 NA18906.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp2 NA18983.hp1 NA18998.hp1 NA18999.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0046 others(12): Show a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0343 a0001c0002t0001g0257	16	356	0.0449	31	c.-82 others(38): Show c.-82_-81insACGCGCGGCCTTGTGGGGCTTGTAGTCCGCG	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding		38		chr20	TogoVar
UGCG_chr9_111891814_111940369	111921802	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0093 a0001c0002t0023g0093	1	424	0.0024	31	c.241 others(48): Show c.241-1021_241-1020insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
UGGT2_chr13_95796580_96058401	96054210	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	332	0.0030	31	c.-89 others(40): Show c.-899_-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding		810		chr13	TogoVar
UGT2B7_chr4_69091474_69117987	69093297	C C	CTCCAAAG others(24): Show CTCCAAAGCTCAAATGCCAGAACAGCTAAGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	31	c.-32 others(42): Show c.-3224_-3223insTCCAAAGCTCAAATGCCAGAACAGCTAAGTT	UGT2B7	ENSG00000171234.14	transcript	ENST00000305231.12	protein_coding		3176		chr4	TogoVar
UGT3A2_chr5_36030021_36071882	36067822	G G	GAGAGAGA others(24): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	410	0.0024	31	c.-10 others(42): Show c.-1034_-1033insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		941		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36067865	G G	GAGAGAGA others(24): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	410	0.0024	31	c.-10 others(42): Show c.-1077_-1076insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		984		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36068975	G G	GGAAGGAA others(24): Show GGAAGGAAGGACGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0216 a0001c0007t0004g0216	1	410	0.0024	31	c.-21 others(42): Show c.-2187_-2186insTTCCTTCCTTCCTTCCTTCCGTCCTTCCTTC	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		2094		chr5	TogoVar
UHRF2_chr9_6408199_6512054	6445981	C C	CTTTGTTT others(24): Show CTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03453.hp2 HG03516.hp2 others(1): Show HG02257.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122	4	318	0.0126	31	c.644 others(50): Show c.644+11811_644+11812insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
ULK1_chr12_131889622_131928150	131917117	A A	ATGGGGCT others(24): Show ATGGGGCTCGAGGCTGTGGGACGGGGGTCGGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18946.hp1 HG02258.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0182 a0001c0005t0001g0205 a0001c0001t0001g0182 a0001c0005t0001g0205	2	344	0.0058	31	c.218 others(46): Show c.2182+60_2182+61insCTCGAGGCTGTGGGACGGGGGTCGGGTGGG G	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 5228 hits)