Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UEVLD_chr11_18524609_18593734	18560138	C C	CACACACA others(27): Show CACACACACACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02735.hp1 HG04204.hp1 others(2): Show HG02630.hp2 HG02735.hp1 HG04204.hp1 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0224 others(2): Show a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0242 a0001c0001t0001g0293	5	293	0.0171	34	c.613 others(51): Show c.613-1809_613-1808insCTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	6/11			chr11	TogoVar
UFSP2_chr4_185394537_185430964	185418047	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02922.hp2 NA19043.hp2 HG02809.hp2 HG02922.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0093 a0001c0001t0005g0028 a0001c0001t0005g0093	3	25	0.1200	34	c.333 others(49): Show c.333+393_333+394insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	UFSP2	ENSG00000109775.11	transcript	ENST00000264689.11	protein_coding	4/11			chr4	TogoVar
UGCG_chr9_111891814_111940369	111921802	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0103 a0001c0002t0012g0103	1	37	0.0270	34	c.241 others(51): Show c.241-1021_241-1020insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
UGGT1_chr2_128086200_128200677	128112454	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00735.hp2 others(11): Show HG00408.hp1 HG00544.hp1 HG00735.hp2 HG02027.hp1 HG02486.hp1 HG02572.hp2 HG02970.hp2 NA18948.hp2 NA19010.hp1 NA19056.hp2 NA19067.hp2 NA19084.hp2 NA20805.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0003c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0061 a0001c0003t0002 a0001c0003t0007 a0001c0004t0001 a0001c0004t0004 a0001c0004t0063 a0003c0006t0002	a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0074 others(11): Show a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0004g0060 a0001c0001t0017g0091 a0001c0001t0061g0048 a0001c0003t0002g0222 a0001c0003t0007g0175 a0001c0004t0001g0081 a0001c0004t0004g0041 a0001c0004t0063g0157 a0003c0006t0002g0180	14	97	0.1443	34	c.522 others(49): Show c.522-611_522-610insATATATATATATATATATATATATATATAT ATAT	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	5/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGGT1_chr2_128086200_128200677	128196907	G G	GGGGGGTT others(27): Show GGGGGGTTCCTGTTTATACATAAGGCAGATTCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0078 a0001c0001t0054g0078	1	330	0.0030	34	c.71 others(45): Show c.7165_*7166insGGGGGTTCCTGTTTATACATAAGGCAGATTCCAT	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding		1231		chr2	TogoVar
UGT1A10_chr2_233631448_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	102	0.0098	34	c.856 others(51): Show c.856-9490_856-9489insCATATACATATACATATATATATATATA TATATA	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A10_chr2_233631448_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03669.hp1 HG03688.hp1 others(2): Show HG02738.hp2 HG03669.hp1 HG03688.hp1 NA18942.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0084 a0001c0001t0001g0217 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0084 a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0001g0236	5	106	0.0472	34	c.856 others(51): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TATATA	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A1_chr2_233755270_233778300	233757535	A A	AATATATA others(27): Show AATATATAAACATATACATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	175	0.0057	34	c.-27 others(45): Show c.-2753_-2752insATATATAAACATATACATATATATATATATATAT	UGT1A1	ENSG00000241635.8	transcript	ENST00000305208.10	protein_coding		2734		chr2	TogoVar
UGT1A1_chr2_233755270_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATACATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	175	0.0057	34	c.-27 others(45): Show c.-2753_-2752insATATATATACATATACATATACATATATATATAT	UGT1A1	ENSG00000241635.8	transcript	ENST00000305208.10	protein_coding		2734		chr2	TogoVar
UGT1A1_chr2_233755270_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG03669.hp2 HG03688.hp2 others(3): Show HG02738.hp1 HG03669.hp2 HG03688.hp2 NA18942.hp1 NA18944.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0081 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0081	6	180	0.0333	34	c.-27 others(45): Show c.-2753_-2752insATATATATACATATACATATATATATATATATAT	UGT1A1	ENSG00000241635.8	transcript	ENST00000305208.10	protein_coding		2734		chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233757535	A A	AATATATA others(27): Show AATATATAAACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0173	1	133	0.0075	34	c.868 others(51): Show c.868-9492_868-9491insAACATATACATATATATATATATATATA TATATA	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	133	0.0075	34	c.868 others(51): Show c.868-9490_868-9489insCATATACATATACATATATATATATATA TATATA	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03669.hp2 HG03688.hp2 others(3): Show HG02738.hp2 HG03669.hp2 HG03688.hp2 NA18942.hp2 NA18944.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0105 a0002c0002t0001g0032 a0002c0002t0001g0151 others(2): Show a0001c0001t0002g0105 a0002c0002t0001g0032 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0196	6	138	0.0435	34	c.868 others(51): Show c.868-9490_868-9489insCATATACATATATATATATATATATATA TATATA	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233757535	A A	AATATATA others(27): Show AATATATAAACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	121	0.0083	34	c.868 others(51): Show c.868-9492_868-9491insAACATATACATATATATATATATATATA TATATA	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	121	0.0083	34	c.868 others(51): Show c.868-9490_868-9489insCATATACATATACATATATATATATATA TATATA	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03669.hp2 HG03688.hp1 others(3): Show HG02738.hp1 HG03669.hp2 HG03688.hp1 NA18942.hp1 NA18944.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0057 a0001c0001t0001g0058 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0084 a0001c0001t0001g0198	6	126	0.0476	34	c.868 others(51): Show c.868-9490_868-9489insCATATACATATATATATATATATATATA TATATA	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233757535	A A	AATATATA others(27): Show AATATATAAACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	120	0.0083	34	c.868 others(51): Show c.868-9492_868-9491insAACATATACATATATATATATATATATA TATATA	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	120	0.0083	34	c.868 others(51): Show c.868-9490_868-9489insCATATACATATACATATATATATATATA TATATA	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03669.hp1 HG03688.hp1 others(3): Show HG02738.hp1 HG03669.hp1 HG03688.hp1 NA18942.hp2 NA18944.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0112 a0001c0001t0001g0113 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0137 a0001c0002t0001g0234	6	125	0.0480	34	c.868 others(51): Show c.868-9490_868-9489insCATATACATATATATATATATATATATA TATATA	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233757535	A A	AATATATA others(27): Show AATATATAAACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0037	1	120	0.0083	34	c.862 others(51): Show c.862-9492_862-9491insAACATATACATATATATATATATATATA TATATA	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03669.hp2 HG03688.hp2 others(2): Show HG02738.hp1 HG03669.hp2 HG03688.hp2 NA18942.hp1 NA18944.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0153 a0002c0002t0001g0005 a0002c0002t0001g0022 others(1): Show a0001c0001t0001g0153 a0002c0002t0001g0005 a0002c0002t0001g0022 a0002c0002t0001g0278	5	124	0.0403	34	c.862 others(51): Show c.862-9490_862-9489insCATATACATATATATATATATATATATA TATATA	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233757535	A A	AATATATA others(27): Show AATATATAAACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	111	0.0090	34	c.856 others(51): Show c.856-9492_856-9491insAACATATACATATATATATATATATATA TATATA	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	111	0.0090	34	c.856 others(51): Show c.856-9490_856-9489insCATATACATATACATATATATATATATA TATATA	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03669.hp2 HG03688.hp1 others(3): Show HG02738.hp1 HG03669.hp2 HG03688.hp1 NA18942.hp1 NA18944.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0207 a0001c0001t0001g0208 a0002c0002t0001g0005 others(2): Show a0001c0001t0001g0207 a0001c0001t0001g0208 a0002c0002t0001g0005 a0002c0002t0001g0027 a0002c0002t0001g0051	6	116	0.0517	34	c.856 others(51): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TATATA	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	98	0.0102	34	c.856 others(51): Show c.856-9490_856-9489insCATATACATATACATATATATATATATA TATATA	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03669.hp2 HG03688.hp2 others(1): Show HG02738.hp1 HG03669.hp2 HG03688.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0210 others(1): Show a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0210 a0001c0001t0001g0269	4	101	0.0396	34	c.856 others(51): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TATATA	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233757535	A A	AATATATA others(27): Show AATATATAAACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	112	0.0089	34	c.856 others(51): Show c.856-9492_856-9491insAACATATACATATATATATATATATATA TATATA	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	112	0.0089	34	c.856 others(51): Show c.856-9490_856-9489insCATATACATATACATATATATATATATA TATATA	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03669.hp2 HG03688.hp1 others(3): Show HG02738.hp2 HG03669.hp2 HG03688.hp1 NA18942.hp1 NA18944.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0207 others(3): Show a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0220 a0001c0001t0001g0280	6	117	0.0513	34	c.856 others(51): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TATATA	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(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01358.hp1 HG01952.hp2 others(5): Show HG01081.hp1 HG01358.hp1 HG01952.hp2 HG03669.hp2 HG04199.hp1 NA18522.hp1 NA18974.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0123 a0001c0001t0002g0003 a0001c0001t0002g0037 others(4): Show a0001c0001t0001g0123 a0001c0001t0002g0003 a0001c0001t0002g0037 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0003g0010 a0001c0001t0003g0044	8	322	0.0248	34	c.-10 others(45): Show c.-1077_-1076insTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		984		chr5	TogoVar
UGT8_chr4_114593807_114683225	114611431	T T	TATACATA others(27): Show TATACATATATATATATATACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03540.hp1 HG01257.hp2 HG03540.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0011 a0001c0007t0015 a0001c0007t0011 a0001c0007t0015	a0001c0007t0011g0254 a0001c0007t0015g0253 a0001c0007t0011g0254 a0001c0007t0015g0253	2	278	0.0072	34	c.-2- others(51): Show c.-2-11445_-2-11444insCATATATATATATATACATATATATATA CACATA	UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
UHRF2_chr9_6408199_6512054	6445981	C C	CTTTGTTT others(27): Show CTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	101	0.0099	34	c.644 others(53): Show c.644+11811_644+11812insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
ULK4_chr3_41241599_41967103	41831531	A A	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0066 a0007c0005t0001g0066	1	54	0.0185	34	c.176 others(53): Show c.1764+4332_1764+4333insAAAAAAAAAAAAAAAATATATATATA TATATATA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	18/36			chr3	TogoVar
UMODL1_chr21_42066317_42147996	42100761	A A	ATGCCCTC others(27): Show ATGCCCTCCTCACCCTCCCCACCCCACCAACCCTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02451.hp2 others(2): Show HG01070.hp2 HG01071.hp2 HG02451.hp2 HG03453.hp2 HG06807.hp2	a0030 a0047 a0030 a0047	a0030c0024 a0047c0037 a0030c0024 a0047c0037	a0030c0024t0012 a0047c0037t0001 a0030c0024t0012 a0047c0037t0001	a0030c0024t0012g0011 a0030c0024t0012g0360 a0047c0037t0001g0372 others(1): Show a0030c0024t0012g0011 a0030c0024t0012g0360 a0047c0037t0001g0372 a0047c0037t0001g0373	5	397	0.0126	34	c.118 others(53): Show c.1187-1379_1187-1346dupCCAACCCTGTGCCCTCCTCACCCTCC CCACCCCA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42100821	G G	GCAACCCC others(27): Show GCAACCCCGTGCCCTCCTCACCCTCCCCACCCCAC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19078.hp2 NA18967.hp2 NA19078.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0165 a0002c0005t0001g0166 a0002c0005t0001g0165 a0002c0005t0001g0166	2	396	0.0051	34	c.118 others(53): Show c.1187-1279_1187-1246dupCACCAACCCCGTGCCCTCCTCACCCT CCCCACCC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMOD_chr16_20328051_20357715	20345400	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTTCTTTCTTTCTTCTTTC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0061 a0001c0003t0002g0061	1	333	0.0030	34	c.118 others(51): Show c.1182+725_1182+726insGAAAGAAGAAAGAAAGAAAAGAAAGAAA GAAAGA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UNC13B_chr9_35157009_35410335	35183200	C C	CGGGGTGG others(27): Show CGGGGTGGCCGGGCAGAGGCGCTCCCCACCTCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0172 a0004c0005t0008g0172	1	221	0.0045	34	c.22+ others(51): Show c.22+20896_22+20897insGGGTGGCCGGGCAGAGGCGCTCCCCACC TCCCAG	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01433.hp2 HG01175.hp1 HG01433.hp2	a0006 a0008 a0006 a0008	a0006c0008 a0008c0012 a0006c0008 a0008c0012	a0006c0008t0002 a0008c0012t0001 a0006c0008t0002 a0008c0012t0001	a0006c0008t0002g0002 a0008c0012t0001g0107 a0006c0008t0002g0002 a0008c0012t0001g0107	2	29	0.0690	34	c.152 others(49): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54186836	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0113 a0001c0001t0016g0113	1	127	0.0079	34	c.307 others(55): Show c.3071+43160_3071+43161insATATATATATATATATATATATAT ATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54339640	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0086 a0001c0002t0022g0086	1	32	0.0313	34	c.471 others(53): Show c.4713+1175_4713+1176insATATATATATATATATATATATATAT ATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	17/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTAT others(27): Show CTCTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0013 a0001c0021t0013	a0001c0021t0013g0038 a0001c0021t0013g0038	1	54	0.0185	34	c.493 others(55): Show c.4934-39402_4934-39401insCTCTATATATATATATATATATAT ATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0152 a0001c0001t0007g0152	1	54	0.0185	34	c.493 others(55): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTATATAT ATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0046 a0001c0029t0046	a0001c0029t0046g0143 a0001c0029t0046g0143	1	54	0.0185	34	c.493 others(55): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54553247	T T	TATATTAT others(27): Show TATATTATATATTGTATTCTATATTACAATATAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG03195.hp2 HG01891.hp2 HG02055.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0025 a0001c0001t0045 a0001c0001t0011 a0001c0001t0025 a0001c0001t0045	a0001c0001t0011g0069 a0001c0001t0025g0003 a0001c0001t0045g0130 a0001c0001t0011g0069 a0001c0001t0025g0003 a0001c0001t0045g0130	3	155	0.0194	34	c.587 others(53): Show c.5878-2139_5878-2106dupTGTATTCTATATTACAATATAGAATA TTATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176806019	A A	AGGAAGGA others(27): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	237	0.0042	34	c.-47 others(45): Show c.-4732_-4731insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		4539		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176806985	A A	AACCCCTT others(27): Show AACCCCTTCAGGAGATGCCTTCAGGAAGCAGCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	266	0.0038	34	c.-37 others(45): Show c.-3766_-3765insACCCCTTCAGGAGATGCCTTCAGGAAGCAGCCTC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		3573		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176870984	G G	GCTCGCCC others(27): Show GCTCGCCCCACACCACAGCTTCCCATCTGCCCACA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0232 a0001c0004t0002g0232	1	98	0.0102	34	c.886 others(49): Show c.886+586_886+619dupACTCGCCCCACACCACAGCTTCCCATCTGC CCAC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176871567	A A	AACACCAC others(27): Show AACACCACAGCTTCACATCTGCCCACACTCACCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0239 a0001c0001t0006g0239	1	266	0.0038	34	c.886 others(51): Show c.886+1046_886+1047insACATCTGCCCACACTCACCCCACACCAC AGCTTC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176873199	A A	AACACCAC others(27): Show AACACCACAGCTTCCCATCTGCCCACACTCACCCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	266	0.0038	34	c.887 others(49): Show c.887-747_887-746insCACACTCACCCCACACCACAGCTTCCCATC TGCC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5C_chr4_95157504_95553973	95256699	A A	AATATATA others(27): Show AATATATATATATATATAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0077 a0001c0005t0001g0077	1	143	0.0070	34	c.595 others(51): Show c.595-6033_595-6032insATATATATATATATATTTATATATATAT ATATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar

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