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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
UBC_chr12_124906646_124919650	124907752	A A	AATATATG others(45): Show AATATATGAATATATATATGAATATATATATATATGAATATATGAATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01099.hp2 others(34): Show HG00642.hp1 HG00642.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01256.hp1 HG01346.hp2 HG01358.hp2 HG01516.hp2 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02683.hp1 HG02735.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp2 NA18965.hp1 NA18971.hp2 NA18974.hp1 NA18982.hp2 NA19009.hp1 NA19010.hp2 NA19060.hp1 NA19079.hp1 NA19086.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0011 others(1): Show a0001c0001 a0001c0002 a0002c0011 a0004c0032	a0001c0001t0002 a0001c0002t0001 a0002c0011t0001 others(1): Show a0001c0001t0002 a0001c0002t0001 a0002c0011t0001 a0004c0032t0001	a0001c0001t0002g0003 a0001c0002t0001g0001 a0001c0002t0001g0053 others(4): Show a0001c0001t0002g0003 a0001c0002t0001g0001 a0001c0002t0001g0053 a0001c0002t0001g0061 a0001c0002t0001g0062 a0002c0011t0001g0016 a0004c0032t0001g0056	37	446	0.0830	52	c.39 others(63): Show c.3961_*3962insATATATATTCATATATTCATATATATATATATTC ATATATATATTCATATAT	UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding		3893		chr12	TogoVar
UBC_chr12_124906646_124919650	124907760	A A	AATATATA others(45): Show AATATATATATATATGAATATATGAATATATATATATATGAATATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	446	0.0022	52	c.39 others(63): Show c.3953_*3954insATATATATATATTCATATATATATATATTCATAT ATTCATATATATATATAT	UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding		3885		chr12	TogoVar
UBE2O_chr17_76384456_76458152	76455632	G G	GGATTGAT others(45): Show GGATTGATATTACAGTATTTAGGTTCTTCAACGAAAGACTAGTAAGTTGG ATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0055 a0002c0002t0003g0055	1	364	0.0028	52	c.-24 others(63): Show c.-2492_-2491insAATCCAACTTACTAGTCTTTCGTTGAAGAACCTA AATACTGTAATATCAATC	UBE2O	ENSG00000175931.13	transcript	ENST00000319380.12	protein_coding		2481		chr17	TogoVar
UBE2R2_chr9_33812160_33925399	33877823	G G	GTCTGTCT others(45): Show GTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	366	0.0027	52	c.178 others(69): Show c.178-9055_178-9054insGTCTGTCTGTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCT	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2U_chr1_64198623_64272368	64239116	A A	AGAAGAAG others(45): Show AGAAGAAGAAGGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAA GAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	330	0.0030	52	c.596 others(69): Show c.596-2526_596-2525insGAAGAAGAAGAGGAAGAGGAAGAGGAAG AGGAAGAGGAAGAGGAAGAAGAAG	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE3A_chr15_25328728_25444024	25367164	T T	TATATTTA others(45): Show TATATTTACATATTTGTAAATATGTAAATATTTACATATTTGTAAATATG TAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02300.hp2 HG03017.hp1 others(4): Show HG01433.hp2 HG02300.hp2 HG03017.hp1 NA18994.hp1 NA19007.hp2 NA19012.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0026 a0001c0001t0001 a0001c0001t0003 a0001c0001t0026	a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0226 others(4): Show a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0003g0194 a0001c0001t0003g0217 a0001c0001t0003g0232 a0001c0001t0026g0002	7	298	0.0235	52	c.160 others(71): Show c.1608+3350_1608+3401dupTTACATATTTACAAATATGTAAATAT TTACATATTTACAAATATGTAAATAT	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	6/12			chr15	TogoVar
UBE3A_chr15_25328728_25444024	25367223	A A	ACATATTT others(45): Show ACATATTTGTAAATATGTAAATATTTACATATTTGTAAATATGTAAATAT TTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0238 a0001c0001t0036g0238	1	298	0.0034	52	c.160 others(71): Show c.1608+3342_1608+3343insCAAATATTTACATATTTACAAATATG TAAATATTTACATATTTACAAATATG	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	6/12			chr15	TogoVar
UBE3A_chr15_25328728_25444024	25367275	A A	ACATATTT others(45): Show ACATATTTGTAAATATGTAAATATTTACATATTTGTAAATATGTAAATAT TTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG01952.hp1 others(4): Show HG01074.hp1 HG01099.hp2 HG01952.hp1 NA18975.hp1 NA19060.hp2 NA19076.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0029 a0001c0001t0008 a0001c0001t0029	a0001c0001t0008g0003 a0001c0001t0008g0004 a0001c0001t0008g0005 others(4): Show a0001c0001t0008g0003 a0001c0001t0008g0004 a0001c0001t0008g0005 a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0008g0009 a0001c0001t0029g0008	7	298	0.0235	52	c.160 others(71): Show c.1608+3290_1608+3291insCAAATATTTACATATTTACAAATATG TAAATATTTACATATTTACAAATATG	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	6/12			chr15	TogoVar
UBE4A_chr11_118354600_118404211	118355628	T T	TATATATA others(45): Show TATATATACACATATACACATATATACACATATGTATATATACACATATA CAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02132.hp1 HG02559.hp2 others(1): Show HG00544.hp1 HG02132.hp1 HG02559.hp2 NA19083.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0003 a0005c0008t0003 a0001c0001t0003 a0005c0008t0003	a0001c0001t0003g0017 a0001c0001t0003g0116 a0001c0001t0003g0124 others(1): Show a0001c0001t0003g0017 a0001c0001t0003g0116 a0001c0001t0003g0124 a0005c0008t0003g0107	4	320	0.0125	52	c.-40 others(63): Show c.-4088_-4087insATATATACACATATACACATATATACACATATGT ATATATACACATATACAC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3971		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355930	C C	CACATATA others(45): Show CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG CAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG04204.hp1 NA19005.hp2 HG00408.hp2 HG04204.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	3	320	0.0094	52	c.-37 others(63): Show c.-3786_-3785insACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGCAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3669		chr11	TogoVar
UBLCP1_chr5_159258290_159291036	159270862	T T	TAAGAGTC others(45): Show TAAGAGTCTATATATATATATATATATATATATAAAGATATATATATATA AAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02886.hp1 HG02886.hp2 others(2): Show HG01070.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0028 a0001c0001t0005 a0001c0001t0016 a0001c0001t0028	a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0016g0030 others(1): Show a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0016g0030 a0001c0001t0028g0117	5	382	0.0131	52	c.448 others(67): Show c.448+219_448+220insAAGAGTCTATATATATATATATATATATAT ATAAAGATATATATATATAAAA	UBLCP1	ENSG00000164332.8	transcript	ENST00000296786.8	protein_coding	5/10			chr5	TogoVar
UBR3_chr2_169822454_170089131	169890553	A A	ATATATAT others(45): Show ATATATATATATATATATATATGTGTGTGTGTATATATATATGTATATAT ATG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0185 a0001c0002t0014g0185	1	324	0.0031	52	c.103 others(69): Show c.1039-601_1039-600insATATATATATGTGTGTGTGTATATATAT ATGTATATATATGTATATATATAT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169890555	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATGTGTGTATATATAT ATG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18964.hp1 NA19085.hp1 NA18959.hp1 NA18964.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0017	a0001c0002t0001g0114 a0001c0002t0002g0132 a0001c0002t0017g0200 a0001c0002t0001g0114 a0001c0002t0002g0132 a0001c0002t0017g0200	3	324	0.0093	52	c.103 others(69): Show c.1039-601_1039-600insATATATATATATATATATATATATATGT GTGTATATATATATGTATATATAT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBXN4_chr2_135736855_135790056	135785819	C C	CAGCCTCC others(45): Show CAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACAGCTGGCTA ATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0123 a0001c0001t0008g0123	1	370	0.0027	52	c.29 others(63): Show c.2932_*2933insAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAC CACCACAGCTGGCTAATT	UBXN4	ENSG00000144224.17	transcript	ENST00000272638.14	protein_coding		764		chr2	TogoVar
UCHL3_chr13_75544791_75611020	75592423	T T	TATATATG others(45): Show TATATATGTATATACGTATATACATATATATATATATATATATATGTATA TAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01257.hp2 HG01346.hp1 others(1): Show HG01099.hp2 HG01257.hp2 HG01346.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043	4	326	0.0123	52	c.475 others(69): Show c.475-2486_475-2485insGTATATACGTATATACATATATATATAT ATATATATATGTATATACATATAT	UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UCN3_chr10_5359966_5379692	5370225	G G	GTGTGTAT others(45): Show GTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGTGTGT ATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0185 a0001c0002t0002g0185	1	468	0.0021	52	c.-6- others(67): Show c.-6-3490_-6-3489insTGTGTATGTGTGTGTATGTGTGTGTATATG TGTGTGTGTATGTGTGTGTATA	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
UCN3_chr10_5359966_5379692	5370337	A A	ATATGCGT others(45): Show ATATGCGTGTATATGTGTGTGTATATGTGTGTATATGTGTGTATATGTGT GTG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0022 a0001c0002t0004g0022	2	468	0.0043	52	c.-6- others(67): Show c.-6-3369_-6-3368insATATGTGTGTGTATATGTGTGTATATGTGT GTATATGTGTGTGTATGCGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370344	T T	TGTATATG others(45): Show TGTATATGTGTGTGTATATGTGTGTATATGTGTGTGTATGCGTGTGTATA TGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	468	0.0021	52	c.-6- others(67): Show c.-6-3369_-6-3368insATATGTGTGTGTATATGTGTGTATATGTGT GTGTATGCGTGTGTATATGCGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370447	G G	GCGTGTGT others(45): Show GCGTGTGTATATGCGTGTATATGCGTGTGTATGTGTGTGTGTATGTGTGT ATA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0215 a0001c0002t0012g0215	1	468	0.0021	52	c.-6- others(67): Show c.-6-3268_-6-3267insCGTGTGTATATGCGTGTATATGCGTGTGTA TGTGTGTGTGTATGTGTGTATA	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
UCN3_chr10_5359966_5379692	5370472	C C	CGTGTGTG others(45): Show CGTGTGTGTGTGTATATGTGTGTGTATATGCGTGTGTATGTGTGTATATG TGT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0380 a0001c0002t0003g0380	1	468	0.0021	52	c.-6- others(67): Show c.-6-3237_-6-3236insGTGTGTATATGTGTGTGTATATGCGTGTGT ATGTGTGTATATGTGTGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370579	A A	ATATGTGT others(45): Show ATATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTGTATAT GTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG02080.hp2 others(35): Show HG00621.hp2 HG00673.hp1 HG02080.hp2 HG02165.hp2 HG02738.hp2 HG03239.hp1 HG03654.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18959.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18975.hp1 NA18984.hp2 NA18991.hp1 NA18993.hp1 NA18998.hp2 NA19005.hp1 NA19012.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19077.hp1 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 others(1): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0014	a0001c0002t0002g0094 a0001c0002t0002g0108 a0001c0002t0002g0152 others(31): Show a0001c0002t0002g0094 a0001c0002t0002g0108 a0001c0002t0002g0152 a0001c0002t0002g0169 a0001c0002t0003g0002 a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0003g0100 a0001c0002t0003g0103 a0001c0002t0003g0104 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0151 a0001c0002t0003g0154 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0166 a0001c0002t0003g0195 a0001c0002t0003g0383 a0001c0002t0007g0098 a0001c0002t0007g0110 a0001c0002t0007g0170 a0001c0002t0014g0129 a0001c0002t0014g0149	38	468	0.0812	52	c.-6- others(67): Show c.-6-3135_-6-3134insATGTGTGTGTATGTGTGTGTATATGCGTGT GTATATGTGTGTGTATATGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370859	G G	GCGTGTGT others(45): Show GCGTGTGTATGTGTGTGTATATGTGTGTATATGTGTGTATATGTGTGTGT ATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03239.hp1 HG01175.hp2 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0008 a0001c0002t0007 a0001c0002t0008	a0001c0002t0007g0110 a0001c0002t0008g0118 a0001c0002t0007g0110 a0001c0002t0008g0118	2	468	0.0043	52	c.-6- others(67): Show c.-6-2856_-6-2855insCGTGTGTATGTGTGTGTATATGTGTGTATA TGTGTGTATATGTGTGTGTATA	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
UCN3_chr10_5359966_5379692	5370862	C C	CGTGTGTA others(45): Show CGTGTGTATGTGTGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTA TGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00621.hp1 others(3): Show HG00597.hp2 HG00609.hp1 HG00621.hp1 HG02129.hp2 HG02155.hp2 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0005 a0001c0003t0005 a0001c0002t0002 a0001c0002t0005 a0001c0003t0005	a0001c0002t0002g0394 a0001c0002t0005g0396 a0001c0002t0005g0397 others(3): Show a0001c0002t0002g0394 a0001c0002t0005g0396 a0001c0002t0005g0397 a0001c0002t0005g0398 a0001c0002t0005g0399 a0001c0003t0005g0395	6	468	0.0128	52	c.-6- others(67): Show c.-6-2837_-6-2836insGTATGTGTGTGTATATGTGTGTGTATGTGT GTATGTGTGTGTATGTGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370862	C C	CGTGTGTA others(45): Show CGTGTGTATGTGTGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTG TAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG02074.hp1 others(7): Show HG00438.hp1 HG00438.hp2 HG02074.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp2 NA18967.hp2 NA18986.hp1 NA18999.hp1 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0391 a0001c0002t0005g0385 a0001c0002t0005g0386 others(7): Show a0001c0002t0002g0391 a0001c0002t0005g0385 a0001c0002t0005g0386 a0001c0002t0005g0387 a0001c0002t0005g0388 a0001c0002t0005g0389 a0001c0002t0005g0392 a0001c0002t0005g0393 a0001c0002t0005g0400 a0001c0002t0005g0404	10	468	0.0214	52	c.-6- others(67): Show c.-6-2837_-6-2836insGTATGTGTGTGTATATGTGTGTGTATGTGT GTGTATGTGTGTATGTGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UGGT1_chr2_128086200_128200677	128112454	T T	TTATATAT others(45): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0200 a0001c0003t0007g0200	1	332	0.0030	52	c.522 others(67): Show c.522-611_522-610insATATATATATATATATATATATATATATAT ATATATATATATATATATATAT	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	5/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A10_chr2_233631448_233778300	233724126	A A	ACCTCCCG others(45): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCAC CTC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03130.hp2 HG04228.hp2 HG02132.hp2 HG03130.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0153 a0001c0001t0001g0209 a0001c0001t0002g0278 a0001c0001t0001g0153 a0001c0001t0001g0209 a0001c0001t0002g0278	3	302	0.0099	52	c.856 others(71): Show c.856-42882_856-42881insCAGGGGGGCTGACCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGG	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A10_chr2_233631448_233778300	233724152	G G	GCAGGGGG others(45): Show GCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp1 HG04204.hp2 others(1): Show HG00741.hp2 HG01175.hp1 HG04204.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0076 a0001c0001t0001g0146 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0076 a0001c0001t0001g0146 a0001c0001t0001g0169	4	302	0.0133	52	c.856 others(71): Show c.856-42882_856-42881insCAGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGT	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4			chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233724126	A A	ACCTCCCG others(45): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCAC CTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02132.hp2 HG03130.hp1 others(1): Show HG01099.hp2 HG02132.hp2 HG03130.hp1 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0013 a0002c0002 a0002c0013	a0002c0002t0001 a0002c0013t0004 a0002c0002t0001 a0002c0013t0004	a0002c0002t0001g0030 a0002c0002t0001g0170 a0002c0002t0001g0205 others(1): Show a0002c0002t0001g0030 a0002c0002t0001g0170 a0002c0002t0001g0205 a0002c0013t0004g0180	4	350	0.0114	52	c.-50 others(63): Show c.-5001_-5000insCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGG CTGACCCCCCCCCACCTC	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding		4915		chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233724152	G G	GCAGGGGG others(45): Show GCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG03927.hp1 others(2): Show HG00741.hp1 HG01175.hp2 HG03927.hp1 HG04204.hp2 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0186 a0002c0002t0001g0187 others(2): Show a0002c0002t0001g0009 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0204 a0002c0002t0001g0212	5	350	0.0143	52	c.-49 others(63): Show c.-4975_-4974insCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGT	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding		4889		chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233724126	A A	ACCTCCCG others(45): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCAC CTC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03130.hp2 HG04228.hp2 HG02132.hp1 HG03130.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0002g0142 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0002g0142	3	332	0.0090	52	c.867 others(69): Show c.867+4465_867+4466insCAGGGGGGCTGACCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGG	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233724152	G G	GCAGGGGG others(45): Show GCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp1 HG03927.hp2 others(2): Show HG00741.hp1 HG01175.hp1 HG03927.hp2 HG04204.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(2): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0135 a0001c0001t0001g0139	5	332	0.0151	52	c.867 others(69): Show c.867+4465_867+4466insCAGGGGGGCTGACCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGT	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4			chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233724126	A A	ACCTCCCG others(45): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCAC CTC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03130.hp2 HG04228.hp2 HG02132.hp2 HG03130.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0002g0163 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0002g0163	3	330	0.0091	52	c.867 others(71): Show c.867+10294_867+10295insCAGGGGGGCTGACCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGG	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233724152	G G	GCAGGGGG others(45): Show GCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG03927.hp2 others(2): Show HG00741.hp1 HG01175.hp2 HG03927.hp2 HG04204.hp2 NA18994.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0005c0010t0001 a0001c0001t0001 a0005c0010t0001	a0001c0001t0001g0068 a0001c0001t0001g0139 a0001c0001t0001g0140 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0159 a0005c0010t0001g0138	5	330	0.0152	52	c.867 others(71): Show c.867+10294_867+10295insCAGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGT	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4			chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233724126	A A	ACCTCCCG others(45): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCAC CTC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03130.hp2 HG02132.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0250 a0002c0002t0002g0049 a0001c0001t0001g0250 a0002c0002t0002g0049	2	332	0.0060	52	c.861 others(71): Show c.861+30287_861+30288insCAGGGGGGCTGACCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGG	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233724152	G G	GCAGGGGG others(45): Show GCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp1 HG03927.hp2 others(2): Show HG00741.hp1 HG01175.hp1 HG03927.hp2 HG04204.hp2 NA18994.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0247 a0002c0002t0001g0036 a0002c0002t0001g0042 others(2): Show a0001c0001t0001g0247 a0002c0002t0001g0036 a0002c0002t0001g0042 a0002c0002t0001g0059 a0002c0002t0001g0304	5	332	0.0151	52	c.861 others(71): Show c.861+30287_861+30288insCAGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGT	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4			chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233724126	A A	ACCTCCCG others(45): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCAC CTC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03130.hp1 HG04228.hp2 HG02132.hp2 HG03130.hp1 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0261 a0002c0002t0001g0063 a0002c0002t0002g0032 a0001c0001t0001g0261 a0002c0002t0001g0063 a0002c0002t0002g0032	3	320	0.0094	52	c.855 others(71): Show c.855+41360_855+41361insCAGGGGGGCTGACCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGG	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233724152	G G	GCAGGGGG others(45): Show GCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG03927.hp1 others(2): Show HG00741.hp2 HG01175.hp2 HG03927.hp1 HG04204.hp1 NA18994.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0260 a0002c0002t0001g0046 a0002c0002t0001g0069 others(2): Show a0001c0001t0001g0260 a0002c0002t0001g0046 a0002c0002t0001g0069 a0002c0002t0001g0074 a0002c0002t0001g0096	5	320	0.0156	52	c.855 others(71): Show c.855+41360_855+41361insCAGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGT	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4			chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233724126	A A	ACCTCCCG others(45): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCAC CTC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG04228.hp2 HG02132.hp1 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0173 a0002c0002t0001g0030 a0001c0001t0001g0173 a0002c0002t0001g0030	2	290	0.0069	52	c.856 others(71): Show c.856-42882_856-42881insCAGGGGGGCTGACCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGG	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233724152	G G	GCAGGGGG others(45): Show GCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp1 HG04204.hp2 others(1): Show HG00741.hp2 HG01175.hp1 HG04204.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0180 a0001c0001t0001g0197 others(1): Show a0001c0001t0001g0152 a0001c0001t0001g0180 a0001c0001t0001g0197 a0001c0001t0001g0213	4	290	0.0138	52	c.856 others(71): Show c.856-42882_856-42881insCAGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGT	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4			chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233724126	A A	ACCTCCCG others(45): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCAC CTC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03130.hp1 HG04228.hp1 HG02132.hp2 HG03130.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0125 a0001c0001t0001g0240 a0001c0001t0002g0291 a0001c0001t0001g0125 a0001c0001t0001g0240 a0001c0001t0002g0291	3	318	0.0094	52	c.856 others(71): Show c.856-42882_856-42881insCAGGGGGGCTGACCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGG	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233724152	G G	GCAGGGGG others(45): Show GCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG03927.hp1 others(2): Show HG00741.hp1 HG01175.hp2 HG03927.hp1 HG04204.hp1 NA18994.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0001g0246 others(2): Show a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0001g0246 a0001c0001t0001g0302 a0005c0008t0001g0078	5	318	0.0157	52	c.856 others(71): Show c.856-42882_856-42881insCAGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGT	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4			chr2	TogoVar
UGT3A2_chr5_36030021_36071882	36068934	G G	GGGAAGGA others(45): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	410	0.0024	52	c.-21 others(63): Show c.-2146_-2145insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCC	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		2053		chr5	TogoVar
UGT8_chr4_114593807_114683225	114597754	G G	GATATATA others(45): Show GATATATATATATATATATATGATATATATATATATATATATATGATATA TAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0157 a0002c0002t0002g0157	1	280	0.0036	52	c.-12 others(63): Show c.-1223_-1222insATATATATATATATATATATGATATATATATATA TATATATATGATATATAT	UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding		1052		chr4	TogoVar
ULK1_chr12_131889622_131928150	131917084	G G	GGAGGCTG others(45): Show GGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGG CTC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0018 a0002c0004t0004g0018	1	344	0.0029	52	c.218 others(67): Show c.2182+34_2182+35insCGGGGGTCGGGGGGAGCTCGGAGGCTGTGG GATGGGGCTCGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917084	G G	GGAGGCTG others(45): Show GGAGGCTGTGGGACGGGGGTTGGGGGGAGCTCGGAGGCTGTGGGATGGGG CTC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG04204.hp1 HG03239.hp1 HG04204.hp1	a0002 a0002	a0002c0004 a0002c0026 a0002c0004 a0002c0026	a0002c0004t0004 a0002c0026t0001 a0002c0004t0004 a0002c0026t0001	a0002c0004t0004g0177 a0002c0026t0001g0076 a0002c0004t0004g0177 a0002c0026t0001g0076	2	344	0.0058	52	c.218 others(67): Show c.2182+34_2182+35insCGGGGGTTGGGGGGAGCTCGGAGGCTGTGG GATGGGGCTCGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917187	C C	CGGAGGCT others(45): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	344	0.0029	52	c.218 others(69): Show c.2182+127_2182+128insAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGATGGGGGTCGGAGGCTGTGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917239	C C	CGGAGGCT others(45): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCT GTG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04115.hp2 HG02735.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0004 a0001c0006 a0002c0004	a0001c0006t0004 a0002c0004t0025 a0001c0006t0004 a0002c0004t0025	a0001c0006t0004g0277 a0002c0004t0025g0143 a0001c0006t0004g0277 a0002c0004t0025g0143	2	344	0.0058	52	c.218 others(69): Show c.2183-170_2183-169insAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGATGGGGCTCGGAGGCTGTGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMAD1_chr7_7635752_7884223	7678776	A A	AATATATA others(45): Show AATATATATTTATGTATTTAGTTTATAAATATTTATATATTTAGTTTATA AAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02698.hp2 HG02970.hp1 HG02647.hp2 HG02698.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0042 a0001c0002t0002 a0001c0001t0042 a0001c0002t0002	a0001c0001t0042g0157 a0001c0001t0042g0162 a0001c0002t0002g0007 a0001c0001t0042g0157 a0001c0001t0042g0162 a0001c0002t0002g0007	3	250	0.0120	52	c.82+ others(67): Show c.82+5329_82+5330insATTTATGTATTTAGTTTATAAATATTTATA TATTTAGTTTATAAATATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7678778	T T	TATATATT others(45): Show TATATATTTATGTATTTAGTTTATAAATATATATTTATGTATTTAGTTTA TAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18999.hp1 HG02602.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0050 a0001c0001t0002g0030 a0001c0001t0001g0050 a0001c0001t0002g0030	2	250	0.0080	52	c.82+ others(67): Show c.82+5329_82+5330insATTTATGTATTTAGTTTATAAATATATATT TATGTATTTAGTTTATAAATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42145673	A A	AAAACACC others(45): Show AAAACACCCATATTTACCTTGTTGCTACTCTAGTGCTGCTTCCGCCACTC CTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0104 a0104	a0104c0148 a0104c0148	a0104c0148t0042 a0104c0148t0042	a0104c0148t0042g0379 a0104c0148t0042g0379	1	400	0.0025	52	c.35 others(63): Show c.3599_*3600insAAACACCCATATTTACCTTGTTGCTACTCTAGTG CTGCTTCCGCCACTCCTG	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding		2678		chr21	TogoVar

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