Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
UBE2B_chr5_134366569_134397108	134376348	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	282	0.0036	33	c.126 others(48): Show c.126-320_126-319insAAAAATATATATATATATATATATATATAT ATA		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(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	282	0.0036	33	c.126 others(48): Show c.126-320_126-319insAAATATATATATATATATATATATATATAT ATA		UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2D2_chr5_139556339_139633434	139575426	C C	CACCCCAA others(26): Show CACCCCAAGCAAAAAAAGAAAAACCTGAATGTGA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	226	0.0044	33	c.24+ others(50): Show c.24+13613_24+13645dupCCCCAAGCAAAAAAAGAAAAACCTGAAT GTGAA		UBE2D2	ENSG00000131508.17	transcript	ENST00000398733.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2E2_chr3_23198327_23596794	23571280	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA19088.hp1 HG01074.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0169 a0001c0001t0007g0294 a0001c0001t0003g0169 a0001c0001t0007g0294	2	336	0.0060	33	c.509 others(52): Show c.509-18427_509-18426insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		UBE2E2	ENSG00000182247.11	transcript	ENST00000396703.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	336	0.0030	33	c.63+ others(50): Show c.63+16161_63+16162insATATATATATATATATATTTTTTTTTTT TTTTT		UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2U_chr1_64198623_64272368	64239142	A A	AAGGAGAA others(26): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0284 a0002c0002t0001g0284	1	330	0.0030	33	c.596 others(50): Show c.596-2508_596-2507insGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAG		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE3A_chr15_25328728_25444024	25430027	C C	CTATATAT others(26): Show CTATATATATATATTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	298	0.0034	33	c.-16 others(52): Show c.-165+8461_-165+8462insTATATATATATATATATATAATATAT ATATATA		UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12						chr15	TogoVar
UBE3A_chr15_25328728_25444024	25430125	G G	GATTATAT others(26): Show GATTATATATATATTATATATATAATACATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	298	0.0034	33	c.-16 others(52): Show c.-165+8331_-165+8363dupATATATGTATTATATATATAATATAT ATATAAT		UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12						chr15	TogoVar
UBE3A_chr15_25328728_25444024	25430205	A A	ATATATAT others(26): Show ATATATATATTATATATATAATACATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0140 a0001c0003t0011g0140	1	298	0.0034	33	c.-16 others(52): Show c.-165+8283_-165+8284insATATATATATGTATTATATATATAAT ATATATA		UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12						chr15	TogoVar
UBE3D_chr6_82887390_83070841	83046672	C C	CGGGGGGG others(26): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0016	1	186	0.0054	33	c.366 others(50): Show c.366-2014_366-2013insCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCC		UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	3/9						chr6	TogoVar
UBE4A_chr11_118354600_118404211	118355940	T T	TGTGTGTA others(26): Show TGTGTGTATACGCATACATATACGTATATATGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	320	0.0031	33	c.-37 others(44): Show c.-3776_-3775insGTGTGTATACGCATACATATACGTATATATGAC		UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding					3659		chr11	TogoVar
UBE4B_chr1_10027958_10186239	10178983	A A	ACAATTGA others(26): Show ACAATTGAGAAGGAAGCCTCCTTTTAGCTCTTGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0132	1	222	0.0045	33	c.370 others(50): Show c.3700+165_3700+166insCAATTGAGAAGGAAGCCTCCTTTTAGCT CTTGT		UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding	26/27						chr1	TogoVar
UBQLN1_chr9_83654968_83712958	83711397	T T	TTCTTTTT others(26): Show TTCTTTTTTTGTTTTATTTTCTTTAATTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0002	1	308	0.0033	33	c.-37 others(44): Show c.-3719_-3718insGAAAAGAATTAAAGAAAATAAAACAAAAAAAGA		UBQLN1	ENSG00000135018.14	transcript	ENST00000376395.9	protein_coding					3440		chr9	TogoVar
UBR3_chr2_169822454_170089131	169831127	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0305 a0001c0020t0002g0305	1	324	0.0031	33	c.545 others(50): Show c.545+3076_545+3077insATATATATATATATATATATATATATAT ATATT		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169955793	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0022	a0001c0006t0022g0268 a0001c0006t0022g0268	1	324	0.0031	33	c.354 others(52): Show c.3546-2627_3546-2626insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	23/38					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	170066993	T T	TAATAATA others(26): Show TAATAATAATAATAATAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0051 a0001c0001t0013g0051	1	324	0.0031	33	c.501 others(52): Show c.5019+5552_5019+5553insTAATAATAATAATAATAATAATAATA ATAAAAA		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	35/38					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR5_chr8_102247273_102417700	102387719	A A	AAATGGAA others(26): Show AAATGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01515.hp2 HG01517.hp1 others(4): Show HG01099.hp2 HG01515.hp2 HG01517.hp1 NA18950.hp2 NA18980.hp1 NA18986.hp2 NA19009.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0285 a0001c0003t0001g0286 others(3): Show a0001c0003t0001g0003 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0290	7	328	0.0213	33	c.62+ others(50): Show c.62+24453_62+24454insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCATT		UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	1/58						chr8	TogoVar
UBXN11_chr1_26277282_26311636	26305191	C C	CCCAGGTT others(26): Show CCCAGGTTCAAGCAATTCTTGCTGCACTCCGCCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	370	0.0027	33	c.-36 others(50): Show c.-36+1400_-36+1401insAGGCGGAGTGCAGCAAGAATTGCTTGAA CCTGG		UBXN11	ENSG00000158062.21	transcript	ENST00000374222.6	protein_coding	1/14						chr1	TogoVar
UBXN7_chr3_196342662_196437427	196401823	G G	GAGAAGAG others(26): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0240 a0001c0001t0062g0240	1	274	0.0037	33	c.289 others(50): Show c.289+1128_289+1129insTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCT		UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	3/10						chr3	TogoVar
UCN3_chr10_5359966_5379692	5369918	T T	TGTGTGTA others(26): Show TGTGTGTATGTGTGTTCATGTGTATGTGTGTAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG03139.hp2 others(1): Show HG01884.hp1 HG02622.hp2 HG03139.hp2 HG03486.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0006 a0002c0001t0001 a0002c0001t0006	a0002c0001t0001g0174 a0002c0001t0001g0187 a0002c0001t0001g0188 others(1): Show a0002c0001t0001g0174 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0006g0175	4	468	0.0086	33	c.-6- others(48): Show c.-6-3783_-6-3782insTCATGTGTATGTGTGTAAGGTGTGTATGTG TGT		UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr10	TogoVar
UGT1A10_chr2_233631448_233778300	233661623	T T	TTTTCTTT others(26): Show TTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	302	0.0033	33	c.855 others(52): Show c.855+24261_855+24262insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT		UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A10_chr2_233631448_233778300	233725218	A A	AGGGGGAG others(26): Show AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	302	0.0033	33	c.856 others(52): Show c.856-41814_856-41813insGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGG		UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233725218	A A	AGGGGGAG others(26): Show AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	332	0.0030	33	c.867 others(50): Show c.867+5533_867+5534insGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGG		UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233725218	A A	AGGGGGAG others(26): Show AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	330	0.0030	33	c.867 others(52): Show c.867+11362_867+11363insGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGG		UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233725218	A A	AGGGGGAG others(26): Show AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	332	0.0030	33	c.861 others(52): Show c.861+31355_861+31356insGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGG		UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233725218	A A	AGGGGGAG others(26): Show AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	320	0.0031	33	c.856 others(52): Show c.856-41814_856-41813insGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGG		UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233661623	T T	TTTTCTTT others(26): Show TTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	290	0.0035	33	c.855 others(52): Show c.855+43076_855+43077insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT		UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233725218	A A	AGGGGGAG others(26): Show AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	290	0.0035	33	c.856 others(52): Show c.856-41814_856-41813insGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGG		UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233725218	A A	AGGGGGAG others(26): Show AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	318	0.0031	33	c.856 others(52): Show c.856-41814_856-41813insGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGG		UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT3A2_chr5_36030021_36071882	36067865	G G	GAGAGAGA others(26): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	33	c.-10 others(44): Show c.-1077_-1076insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT		UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding					984		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36067870	A A	AGAGAGAG others(26): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	410	0.0024	33	c.-10 others(44): Show c.-1082_-1081insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC		UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding					989		chr5	TogoVar
UGT8_chr4_114593807_114683225	114673296	T T	TAAAAAAA others(26): Show TAAAAAAAAAAATAAAATAAAAAAAATATAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	280	0.0036	33	c.126 others(52): Show c.1263-2628_1263-2627insAAAAAAAAAATAAAATAAAAAAAATA TAAAAAA		UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
UHRF1_chr19_4904501_4967154	4938730	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02818.hp1 HG01261.hp2 HG02818.hp1	a0001 a0001	a0001c0017 a0001c0038 a0001c0017 a0001c0038	a0001c0017t0029 a0001c0038t0011 a0001c0017t0029 a0001c0038t0011	a0001c0017t0029g0125 a0001c0038t0011g0157 a0001c0017t0029g0125 a0001c0038t0011g0157	2	316	0.0063	33	c.786 others(50): Show c.786-2767_786-2766insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		UHRF1	ENSG00000276043.5	transcript	ENST00000650932.1	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr19	TogoVar
ULK1_chr12_131889622_131928150	131909143	A A	AGGTCATC others(26): Show AGGTCATCATGTCCCAGCACTACGACGGGAAGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19060.hp2 NA19060.hp2	a0013 a0013	a0013c0037 a0013c0037	a0013c0037t0003 a0013c0037t0003	a0013c0037t0003g0286 a0013c0037t0003g0286	1	344	0.0029	33	c.575 others(40): Show c.575_607dupTCATCATGTCCCAGCACTACGACGGGAAGGCGG	p.Val others(13): Show p.Val192_Ala202dup	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	8/28	988/5322	608/3153	203/1050		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMAD1_chr7_7635752_7884223	7637703	A A	AAACTGTA others(26): Show AAACTGTATGTTATGTAATTACATACAGTTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01496.hp1 HG00140.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0056 a0001c0001t0001 a0001c0001t0056	a0001c0001t0001g0060 a0001c0001t0056g0064 a0001c0001t0001g0060 a0001c0001t0056g0064	2	250	0.0080	33	c.-31 others(44): Show c.-3182_-3181insAACTGTATGTTATGTAATTACATACAGTTATAT		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding					3048		chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679474	T T	TTATATAT others(26): Show TTATATATTTAATTTATAGATAAATATATATTTA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG04115.hp2 HG02135.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0008 a0001c0001t0011g0045 a0001c0001t0005g0008 a0001c0001t0011g0045	2	250	0.0080	33	c.82+ others(48): Show c.82+6026_82+6027insATTTAATTTATAGATAAATATATATTTATA TAT		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679474	T T	TTATATAT others(26): Show TTATATATTTAGTTTATAGATAAATATATATTTA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0002 a0001c0001t0014g0002	1	250	0.0040	33	c.82+ others(48): Show c.82+6026_82+6027insATTTAGTTTATAGATAAATATATATTTATA TAT		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679711	A A	AATATATA others(26): Show AATATATATTTATATATTTAATTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0139 a0001c0001t0015g0139	1	250	0.0040	33	c.82+ others(48): Show c.82+6266_82+6267insTTATATATTTAATTTATAGATAAATATATA TAT		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42095089	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02895.hp2 HG02897.hp1 others(1): Show HG02486.hp1 HG02895.hp2 HG02897.hp1 NA19240.hp1	a0012 a0037 a0050 a0012 a0037 a0050	a0012c0051 a0037c0171 a0050c0154 a0012c0051 a0037c0171 a0050c0154	a0012c0051t0023 a0037c0171t0035 a0050c0154t0001 a0012c0051t0023 a0037c0171t0035 a0050c0154t0001	a0012c0051t0023g0162 a0012c0051t0023g0163 a0037c0171t0035g0271 others(1): Show a0012c0051t0023g0162 a0012c0051t0023g0163 a0037c0171t0035g0271 a0050c0154t0001g0376	4	400	0.0100	33	c.932 others(50): Show c.932-3814_932-3813insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	6/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02922.hp2 others(3): Show HG02257.hp2 HG02280.hp1 HG02922.hp2 HG03130.hp1 HG03669.hp1 HG03669.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0016	a0001c0001 a0003c0002 a0006c0008 others(1): Show a0001c0001 a0003c0002 a0006c0008 a0016c0049	a0001c0001t0001 a0003c0002t0001 a0006c0008t0002 others(1): Show a0001c0001t0001 a0003c0002t0001 a0006c0008t0002 a0016c0049t0001	a0001c0001t0001g0116 a0001c0001t0001g0143 a0003c0002t0001g0149 others(3): Show a0001c0001t0001g0116 a0001c0001t0001g0143 a0003c0002t0001g0149 a0006c0008t0002g0009 a0006c0008t0002g0011 a0016c0049t0001g0223	6	224	0.0268	33	c.152 others(48): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54553135	A A	ATTGTATT others(26): Show ATTGTATTCTATATTACAATATATATTATATACT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	158	0.0063	33	c.587 others(52): Show c.5878-2297_5878-2296insTTGTATTCTATATTACAATATATATT ATATACT		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	28/32						chr15	TogoVar
UNC5A_chr5_176805559_176885898	176805977	A A	AAGAAAAA others(26): Show AAGAAAAAGAAGAACAAAGGAAGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	268	0.0037	33	c.-47 others(44): Show c.-4774_-4773insAGAAAAAGAAGAACAAAGGAAGAAGGAAGGAAG		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding					4581		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176871094	C C	CACACCAC others(26): Show CACACCACAGCTTCCCATCTGCCCACGCTCACCA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	268	0.0037	33	c.886 others(48): Show c.886+585_886+586insGCTCACCAACACCACAGCTTCCCATCTGCC CAC		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176871394	C C	CACCAACA others(26): Show CACCAACACCACAGCTTCACATCTGCCCACACCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0232 a0001c0004t0002g0232	1	268	0.0037	33	c.886 others(48): Show c.886+860_886+861insACCAACACCACAGCTTCACATCTGCCCACA CCT		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14						chr5	TogoVar
UNC5A_chr5_176805559_176885898	176871594	C C	CTCACCCC others(26): Show CTCACCCCACACCACAGCTTCCCATCTGCCCACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02451.hp2 others(14): Show HG01884.hp1 HG02145.hp2 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02895.hp2 HG02976.hp1 HG03098.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19030.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013	a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0245 others(14): Show a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0005g0008 a0001c0001t0005g0013 a0001c0001t0005g0023 a0001c0001t0005g0249 a0001c0001t0006g0238 a0001c0001t0006g0243 a0001c0001t0007g0083 a0001c0001t0007g0242 a0001c0001t0007g0247 a0001c0001t0013g0095	17	268	0.0634	33	c.886 others(50): Show c.886+1060_886+1061insTCACCCCACACCACAGCTTCCCATCTGC CCACA		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14						chr5	TogoVar
UNC5A_chr5_176805559_176885898	176871938	C C	CACCAACA others(26): Show CACCAACACCACAGCTTCACATCTGCCCACACCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	268	0.0037	33	c.886 others(50): Show c.886+1404_886+1405insACCAACACCACAGCTTCACATCTGCCCA CACCT		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14						chr5	TogoVar
UNC5A_chr5_176805559_176885898	176871941	C C	CCCAACAC others(26): Show CCCAACACCACAGCTTCCCATCTGCCCACACTCA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	268	0.0037	33	c.886 others(50): Show c.886+1439_886+1440insACCAACACCACAGCTTCCCATCTGCCCA CACTC		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176873129	C C	CCCAACAC others(26): Show CCCAACACCACAGCTTCCCATCTGCCCACACTCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA20300.hp2 HG02965.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0010 a0001c0001t0002g0012	2	268	0.0075	33	c.887 others(48): Show c.887-806_887-774dupACCAACACCACAGCTTCCCATCTGCCCACA CTC		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5C_chr4_95157504_95553973	95354480	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0184 a0001c0003t0001g0184	1	204	0.0049	33	c.125 others(52): Show c.125-18850_125-18849insTATATATATATATATATATATATATA TATATAT		UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15						chr4	TogoVar
UNC5C_chr4_95157504_95553973	95424518	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	1	204	0.0049	33	c.125 others(52): Show c.125-88888_125-88887insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15						chr4	TogoVar

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