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
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	356	0.0028	39	c.-42 others(58): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATTTTTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0275 a0001c0003t0001g0275	1	356	0.0028	39	c.-42 others(58): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATTTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0339 a0001c0003t0001g0339	1	356	0.0028	39	c.-42 others(58): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0274 a0001c0003t0001g0274	1	356	0.0028	39	c.-42 others(58): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBE2E2_chr3_23198327_23596794	23571280	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	336	0.0030	39	c.509 others(58): Show c.509-18427_509-18426insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	UBE2E2	ENSG00000182247.11	transcript	ENST00000396703.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2H_chr7_129825732_129957960	129887680	T T	TGTAATCC others(32): Show TGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGCGGATCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00741.hp2 others(10): Show HG00280.hp1 HG00323.hp1 HG00741.hp2 HG01109.hp2 HG01496.hp1 HG03098.hp1 HG03669.hp1 HG03704.hp2 NA18747.hp2 NA18951.hp1 NA19062.hp1 NA19067.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0036 a0001c0002t0044 others(1): Show a0001c0002t0005 a0001c0002t0036 a0001c0002t0044 a0001c0002t0045	a0001c0002t0005g0003 a0001c0002t0005g0004 a0001c0002t0005g0005 others(10): Show a0001c0002t0005g0003 a0001c0002t0005g0004 a0001c0002t0005g0005 a0001c0002t0005g0006 a0001c0002t0005g0007 a0001c0002t0005g0008 a0001c0002t0005g0009 a0001c0002t0005g0010 a0001c0002t0005g0011 a0001c0002t0005g0012 a0001c0002t0036g0175 a0001c0002t0044g0283 a0001c0002t0045g0285	13	290	0.0448	39	c.54- others(54): Show c.54-6710_54-6709insTGATCCGCCTGCTTTGGCCTCCCAAAGTGC TGGGATTAC	UBE2H	ENSG00000186591.13	transcript	ENST00000355621.8	protein_coding	1/6			chr7	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0133 a0001c0001t0014g0133	1	336	0.0030	39	c.63+ others(56): Show c.63+16161_63+16162insATATATATATATATATATATATATATAT TTTTTTTTTTT	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(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	336	0.0030	39	c.63+ others(56): Show c.63+16161_63+16162insATATATATATATATATATATATATTTTT TTTTTTTTTTT	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(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	336	0.0030	39	c.63+ others(56): Show c.63+16161_63+16162insATATATATATATATATATATATTTTTTT TTTTTTTTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2L5_chr13_30417493_30434758	30422343	G G	GCCCCGGC others(32): Show GCCCCGGCCCGGCCCGGCCCGGCCCGGCCCCGGCCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0012 a0001c0001t0014g0012	1	430	0.0023	39	c.-11 others(50): Show c.-1113_-1112insCCCCGGCCCGGCCCGGCCCGGCCCGGCCCCGGCC CCGGC	UBE2L5	ENSG00000236444.5	transcript	ENST00000635918.2	protein_coding		149		chr13	TogoVar
UBE2R2_chr9_33812160_33925399	33881134	T T	TTATGTCT others(32): Show TTATGTCTTCTTTGTGAATTGATCCCCTTATGAAATTACC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	366	0.0027	39	c.178 others(56): Show c.178-5746_178-5708dupTATGTCTTCTTTGTGAATTGATCCCCTT ATGAAATTACC	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2U_chr1_64198623_64272368	64239127	A A	AAGGAGAA others(32): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0050 a0002c0003t0001g0050	1	330	0.0030	39	c.596 others(56): Show c.596-2523_596-2522insGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAG	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2V1_chr20_50076124_50118150	50077117	T T	TCTCCTGC others(32): Show TCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0151 a0001c0001t0004g0151	1	398	0.0025	39	c.56 others(50): Show c.5650_*5651insTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGC AGGAG	UBE2V1	ENSG00000244687.13	transcript	ENST00000371674.8	protein_coding		4006		chr20	TogoVar
UBR5_chr8_102247273_102417700	102387719	A A	AAAAATGG others(32): Show AAAAATGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0245 a0003c0012t0001g0245	1	328	0.0031	39	c.62+ others(56): Show c.62+24453_62+24454insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCATTTT	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	1/58			chr8	TogoVar
UCN3_chr10_5359966_5379692	5370750	G G	GCGTGTGT others(32): Show GCGTGTGTATGCGTGTGTATGTGTGTGTATGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0395 a0001c0003t0005g0395	1	468	0.0021	39	c.-6- others(54): Show c.-6-2965_-6-2964insCGTGTGTATGCGTGTGTATGTGTGTGTATG TGTGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
UCN3_chr10_5359966_5379692	5374260	G G	GGGGAGGG others(32): Show GGGGAGGGCGTGGGGGGGAGGGGAGGGTGAGGGGGAGGGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0144 a0001c0002t0016g0144	1	468	0.0021	39	c.63 others(46): Show c.63_*64insTGGGGGGGAGGGGAGGGTGAGGGGGAGGGAGGGAGGGC G	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	2/2	64	INFO_REALIGN_3_PRIME	chr10	TogoVar
UCP3_chr11_73995277_74014085	74003257	A A	AATTTAAG others(32): Show AATTTAAGCTTACAAATACTATAATACAAGGCAGGAGGTG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0090 a0001c0001t0012g0090	1	446	0.0022	39	c.824 others(54): Show c.824+531_824+569dupCACCTCCTGCCTTGTATTATAGTATTTGTA AGCTTAAAT	UCP3	ENSG00000175564.13	transcript	ENST00000314032.9	protein_coding	6/6			chr11	TogoVar
ULK2_chr17_19765830_19872936	19814439	T T	TATATATA others(32): Show TATATATATATATATATATATATATATACACACATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0059 a0001c0003t0029g0059	1	288	0.0035	39	c.109 others(58): Show c.1096+2309_1096+2310insTATATATGTGTGTATATATATATATA TATATATATATAT	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK2_chr17_19765830_19872936	19814439	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATACACATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18522.hp2 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0031 a0001c0003t0030 a0001c0003t0031	a0001c0003t0030g0054 a0001c0003t0031g0053 a0001c0003t0030g0054 a0001c0003t0031g0053	2	288	0.0069	39	c.109 others(58): Show c.1096+2309_1096+2310insTATATATGTGTATATATATATATATA TATATATATATAT	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK4_chr3_41241599_41967103	41890821	G G	GGGGGAAA others(32): Show GGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03540.hp2 HG02622.hp2 HG03540.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0005 a0003c0002t0005	a0003c0002t0005g0067 a0003c0002t0005g0068 a0003c0002t0005g0067 a0003c0002t0005g0068	2	72	0.0278	39	c.157 others(58): Show c.1577+4696_1577+4697insTCCCGTCCCTTCTTTCCCCCTCCCGT CCCTTCTTTCCCC	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41891061	G G	GGGGGAAA others(32): Show GGGGGAAAGAAGGGACAGGAGGGGGAAAGAAGGGACGGGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0020 a0020	a0020c0023 a0020c0023	a0020c0023t0001 a0020c0023t0001	a0020c0023t0001g0024 a0020c0023t0001g0024	1	72	0.0139	39	c.157 others(58): Show c.1577+4456_1577+4457insTCCCGTCCCTTCTTTCCCCCTCCTGT CCCTTCTTTCCCC	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36			chr3	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18979.hp1 NA18999.hp2 NA18965.hp1 NA18979.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0059 a0001c0001t0001g0106 a0001c0001t0001g0112	3	224	0.0134	39	c.152 others(54): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC5A_chr5_176805559_176885898	176806022	G G	GAGGAAGG others(32): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	268	0.0037	39	c.-47 others(50): Show c.-4729_-4728insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAGGA	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		4536		chr5	TogoVar
UNC5C_chr4_95157504_95553973	95354479	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0057 a0001c0003t0013g0057	1	204	0.0049	39	c.125 others(58): Show c.125-18849_125-18848insATATATATATATATATATATATATAT ATATATATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
USH2A_chr1_215617891_216428448	216231249	T T	TTATATAT others(32): Show TTATATATATAATATATATATATTATATATATAATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp1 HG03098.hp2 HG03453.hp1	a0022 a0067 a0022 a0067	a0022c0049 a0067c0013 a0022c0049 a0067c0013	a0022c0049t0001 a0067c0013t0001 a0022c0049t0001 a0067c0013t0001	a0022c0049t0001g0063 a0067c0013t0001g0023 a0022c0049t0001g0063 a0067c0013t0001g0023	2	74	0.0270	39	c.299 others(56): Show c.2993+703_2993+704insTATATATTATATATATAATATATATATA TTATATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	14/71			chr1	TogoVar
USP13_chr3_179648040_179794401	179687659	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	300	0.0033	39	c.295 others(56): Show c.295-2556_295-2555insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP15_chr12_62255404_62421389	62257162	A A	ATGTGTGT others(32): Show ATGTGTGTGTATATGTATATATACACAATGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01928.hp1 HG02083.hp2 others(19): Show HG00438.hp2 HG01928.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp2 HG02602.hp2 HG02630.hp2 HG02895.hp1 HG03139.hp1 HG03834.hp1 HG04115.hp1 NA18522.hp2 NA18947.hp2 NA18964.hp1 NA18975.hp1 NA18979.hp1 NA18987.hp1 NA19055.hp1 NA19086.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0002t0054 others(2): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0054 a0001c0002t0057 a0001c0002t0059	a0001c0001t0004g0127 a0001c0002t0001g0001 a0001c0002t0001g0030 others(19): Show a0001c0001t0004g0127 a0001c0002t0001g0001 a0001c0002t0001g0030 a0001c0002t0001g0038 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0054g0068 a0001c0002t0057g0066 a0001c0002t0059g0064	22	348	0.0632	39	c.-32 others(50): Show c.-3253_-3252insTGTGTGTGTATATGTATATATACACAATGTGTGT GTGTG	USP15	ENSG00000135655.16	transcript	ENST00000280377.10	protein_coding		3241		chr12	TogoVar
USP46_chr4_52585960_52664301	52632985	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	192	0.0052	39	c.37- others(54): Show c.37-1842_37-1841insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8			chr4	TogoVar
USP49_chr6_41784896_41900375	41828825	T T	TTTTTTTT others(32): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0344 a0001c0003t0013g0344	1	384	0.0026	39	c.-28 others(58): Show c.-28-21815_-28-21814insCTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	USP49	ENSG00000164663.15	transcript	ENST00000682992.1	protein_coding	3/7			chr6	TogoVar
USP6NL_chr10_11455510_11616650	11545755	G G	GAAATGAA others(32): Show GAAATGAATGTCTTGTAGGACTTTCATGTATTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02300.hp2 NA20752.hp1 HG00280.hp2 HG02300.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0353 a0001c0002t0002g0354 a0001c0002t0002g0355 a0001c0002t0002g0353 a0001c0002t0002g0354 a0001c0002t0002g0355	3	402	0.0075	39	c.5-1 others(54): Show c.5-18227_5-18189dupAAAAACAAAATACATGAAAGTCCTACAAGA CATTCATTT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6_chr17_5111032_5179991	5158206	C C	CATTTTTT others(32): Show CATTTTTTTATTTGGGTTTTTAGATATTTCTTATACTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0252 a0003c0003t0002g0252	1	362	0.0028	39	c.282 others(58): Show c.2828+2602_2828+2603insTTTTTTATTTGGGTTTTTAGATATTT CTTATACTTTTAT	USP6	ENSG00000129204.17	transcript	ENST00000574788.6	protein_coding	31/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
USP7_chr16_8887097_8968906	8953548	A A	ATGCGGTG others(32): Show ATGCGGTGCCACCGGAAGCAGAGGGAAGACACGTGCCCCG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0173 a0001c0006t0004g0173	1	338	0.0030	39	c.79+ others(54): Show c.79+9658_79+9659insCGGGGCACGTGTCTTCCCTCTGCTTCCGGT GGCACCGCA	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8953603	A A	AGCAGAGG others(32): Show AGCAGAGGGAAGACACGTGCCCCGTGCGGCGCCACCGGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA20300.hp1 HG03453.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0031 a0001c0001t0025 a0001c0001t0031	a0001c0001t0025g0056 a0001c0001t0031g0044 a0001c0001t0025g0056 a0001c0001t0031g0044	2	338	0.0059	39	c.79+ others(54): Show c.79+9603_79+9604insCTCCGGTGGCGCCGCACGGGGCACGTGTCT TCCCTCTGC	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8953716	C C	CGGAGGCA others(32): Show CGGAGGCAGAGGGAAGACACGTGCCCCGTGCGGCGCCACT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	338	0.0030	39	c.79+ others(54): Show c.79+9490_79+9491insAGTGGCGCCGCACGGGGCACGTGTCTTCCC TCTGCCTCC	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8953755	C C	CGGAGGCA others(32): Show CGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCACT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0052 a0001c0001t0005g0052	1	338	0.0030	39	c.79+ others(54): Show c.79+9413_79+9451dupAGTGGCGCCGCAGGGGGCACGTGTCTTCCC TCTGCCTCC	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8953899	A A	ATGCGGCG others(32): Show ATGCGGCGCCACTGGAGGCAGAGGGAAGACAGGTGCCCCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	338	0.0030	39	c.79+ others(54): Show c.79+9307_79+9308insGGGGGCACCTGTCTTCCCTCTGCCTCCAGT GGCGCCGCA	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8953983	C C	CGCCACTG others(32): Show CGCCACTGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	338	0.0030	39	c.79+ others(54): Show c.79+9223_79+9224insACCGCAGGGGGCACGTGTCTTCCCTCTGCC TCCAGTGGC	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
UTP20_chr12_101275105_101391618	101310595	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0118 a0002c0005t0005g0118	1	356	0.0028	39	c.223 others(56): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UVSSA_chr4_1342208_1393049	1390894	T T	TGTTGTAT others(32): Show TGTTGTATAGATGCCTGGGGTCCGAGTTGAGCTCTTGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0071 a0001c0003t0004g0071	1	400	0.0025	39	c.49 others(50): Show c.4933_*4934insGTTGTATAGATGCCTGGGGTCCGAGTTGAGCTCT TGTTG	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding		2846		chr4	TogoVar
VAV2_chr9_133756894_133997324	133827492	G G	GGCATCGC others(32): Show GGCATCGCCAACTACTGCTGTGCCCACTGAGGCTGACCAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0176 a0002c0001t0001g0176	1	200	0.0050	39	c.449 others(56): Show c.449+6779_449+6780insGTGGTCAGCCTCAGTGGGCACAGCAGTA GTTGGCGATGC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VCX3B_chrX_8459830_8471510	8466726	G G	GTGGGGAG others(32): Show GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	271	0.0037	39	c.34 others(48): Show c.343_*344insTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		217		chrX	TogoVar
VCX_chrX_7838171_7849143	7847396	C C	CGGGGGGG others(32): Show CGGGGGGGGGGGGGGGGGGGGGGGGTGTGATGGGCTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0001 a0003c0003t0002g0001	1	341	0.0029	39	c.33 others(50): Show c.3380_*3381insGGGGGGGGGGGGGGGGGGGGGGGGTGTGATGGGC TGTGT	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		3254		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237085	A A	AGAGAGAG others(32): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	328	0.0031	39	c.375 others(54): Show c.375-102_375-101insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAG	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GAGAGAGA others(32): Show GAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACA	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18992.hp2 HG01106.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	328	0.0061	39	c.375 others(52): Show c.375-61_375-60insAGAGAGAGAGAGAGAGACAGAGACAGACAGAG ACAGACA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VIPR2_chr7_159023175_159149867	159063777	A A	AGGTGGGG others(32): Show AGGTGGGGTCTGGGGGGTCCTGGTGGGGTCCGGGGGTCCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0046	a0001c0003t0046g0093 a0001c0003t0046g0093	1	336	0.0030	39	c.358 others(56): Show c.358-5200_358-5199insAGGACCCCCGGACCCCACCAGGACCCCC CAGACCCCACC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VNN2_chr6_132738870_132762904	132758000	T T	TTTCTTCT others(32): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03471.hp1 HG02622.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0037 a0002c0004t0001g0034 a0001c0001t0002g0037 a0002c0004t0001g0034	2	436	0.0046	39	c.-15 others(48): Show c.-156_-118dupGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding		97		chr6	TogoVar
VPS53_chr17_503668_719839	709184	T T	TCACGCTC others(32): Show TCACGCTCTGTCACGGAACCTGCCTGGTATCACGGCGCAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	232	0.0043	39	c.168 others(56): Show c.168+1310_168+1348dupCTGCGCCGTGATACCAGGCAGGTTCCGT GACAGAGCGTG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	2/21			chr17	TogoVar
VPS8_chr3_184807166_185057604	184842186	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0202 a0002c0002t0001g0202	1	274	0.0037	39	c.536 others(56): Show c.536-1031_536-1030insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184984194	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTCACCAAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02280.hp1 HG03710.hp1 others(1): Show HG01071.hp2 HG02280.hp1 HG03710.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0144 a0001c0001t0002g0158 others(1): Show a0001c0001t0002g0086 a0001c0001t0002g0144 a0001c0001t0002g0158 a0001c0001t0002g0266	4	274	0.0146	39	c.358 others(58): Show c.3585+1100_3585+1101insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAACTCACCAAG	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	42/47			chr3	TogoVar
VRTN_chr14_74343471_74365008	74344246	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02015.hp1 HG00597.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0001 a0001c0001t0013g0012 a0001c0001t0002g0001 a0001c0001t0013g0012	2	428	0.0047	39	c.-44 others(50): Show c.-4408_-4407insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		4224		chr14	TogoVar

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