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
TMEM143_chr19_48327356_48368940	48365387	TCTGGGAC others(71): Show TCTGGGACCCCTAGTAGCCCCCTCACCACACAACCCCATTCCTGGGACCC CCAGCACCCCCATCCTATGCCCCCCACTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	350	0.0029	-78	c.-15 others(89): Show c.-1545_-1468delGAGTGGGGGGCATAGGATGGGGGTGCTGGGGGTC CCAGGAATGGGGTTGTGTGGTGAGGGGGCTACTAGGGGTCCCAG	TMEM143	ENSG00000161558.11	transcript	ENST00000293261.8	protein_coding		1448		chr19	TogoVar
TMEM185B_chr2_120212479_120228400	120226676	ATGTCTGG others(71): Show ATGTCTGGAGTCTCTCTTCTGCCTTCCTTGTTTTGAGGGCTTCTGTGATT ACTTTGGGTTACTCAGCTAACCCAGGATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	424	0.0024	-78	c.-37 others(89): Show c.-3778_-3701delGATCCTGGGTTAGCTGAGTAACCCAAAGTAATCA CAGAAGCCCTCAAAACAAGGAAGGCAGAAGAGAGACTCCAGACA	TMEM185B	ENSG00000226479.4	transcript	ENST00000426077.3	protein_coding		3277		chr2	TogoVar
TMEM255A_chrX_120253650_120316461	120296915	ATTATATA others(71): Show ATTATATATAATATTATATATATAATATTATATATATATTATATATAATA TATAATATTATATATATTATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0013 a0001c0002t0004g0013	1	303	0.0033	-78	c.202 others(95): Show c.202-2942_202-2865delAATATATATATAATATATATAATATTAT ATATTATATATAATATATATATAATATTATATATATAATATTATATATAA	TMEM255A	ENSG00000125355.16	transcript	ENST00000371369.9	protein_coding	2/8			chrX	TogoVar
TMEM63C_chr14_77176798_77264495	77236212	GGGGAGAC others(71): Show GGGGAGACTGTGATGGGTGGGGGTATGGGGAGACTGTGGTGGGTGGGGGG TATGGGGAGACTGGTGGGTGGGGGGTATA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0308 a0001c0005t0004g0308	1	322	0.0031	-78	c.543 others(93): Show c.543-374_543-297delGTGGGTGGGGGGTATGGGGAGACTGGTGGG TGGGGGGTATAGGGAGACTGTGATGGGTGGGGGTATGGGGAGACTGTG	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TOP1MT_chr8_143304324_143339880	143307951	CCCGCGTG others(71): Show CCCGCGTGGCAGAGAAGAGGGCGGCAGAGGAGAGGGCGGCAGAGGAGAGG GCGGCAGAGGGTCCCGCATGGCAGAGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	430	0.0023	-78	c.14 others(89): Show c.1412_*1489delATCCTCTGCCATGCGGGACCCTCTGCCGCCCTCT CCTCTGCCGCCCTCTCCTCTGCCGCCCTCTTCTCTGCCACGCGG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding		1372		chr8	TogoVar
TPCN2_chr11_69043932_69095597	69068694	TGGGAGCA others(71): Show TGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGA CCGTCTGAGTCCTAGGAAGTGACCACAGG	T T	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0095 a0001c0005t0004g0095	1	404	0.0025	-78	c.829 others(95): Show c.829+1163_829+1240delACAGGGGGAGCAGGACCGTCTGAGTCCT AGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPCN2_chr11_69043932_69095597	69069019	GTCTGAGT others(71): Show GTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCT AGGAAGTGACCACAGGGGGAGCAGGACTA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0017 a0004c0008t0017	a0004c0008t0017g0106 a0004c0008t0017g0106	1	404	0.0025	-78	c.830 others(95): Show c.830-1350_830-1273delACAGGGGGAGCAGGACTATCTGAGTCCT AGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGGAAGTGACC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPCN2_chr11_69043932_69095597	69069426	GACCGCAG others(71): Show GACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGG GAGCAGGACCGTCTGAGTCCTAGGAAGTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0224 a0002c0002t0029g0224	1	404	0.0025	-78	c.830 others(93): Show c.830-926_830-849delTACCGCAGTGGGAGCAGGACCGTCTGAGTC CTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGT	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPD52_chr8_80029745_80176564	80072353	GTGTATAT others(71): Show GTGTATATACATGTACACATAGATATGCGTGTATATACATGTACACATAG ATATGCGTGTATATACATGTACACATAGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0102 a0001c0001t0016g0102	1	228	0.0044	-78	c.20- others(93): Show c.20-7838_20-7761delTCTATGTGTACATGTATATACACGCATATC TATGTGTACATGTATATACACGCATATCTATGTGTACATGTATATACA	TPD52	ENSG00000076554.16	transcript	ENST00000518937.6	protein_coding	1/7			chr8	TogoVar
TPO_chr2_1408463_1548673	1424906	TGGGATAC others(71): Show TGGGATACAGAGATGAGTTTGATCATTTCATATCCTCAGAAGTCCATGCT CCCTCTATAAAGTCATTGTTCTAGATGCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00597.hp2 others(25): Show HG00140.hp2 HG00544.hp1 HG00597.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02080.hp2 HG02132.hp1 HG02523.hp2 HG02572.hp1 HG02630.hp2 HG02683.hp1 HG03209.hp2 HG03453.hp2 HG04204.hp1 HG06807.hp1 NA18985.hp1 NA19043.hp1 NA20752.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0011 a0012 a0014 a0015 a0016 a0017 a0018	a0001c0001 a0001c0004 a0002c0002 others(15): Show a0001c0001 a0001c0004 a0002c0002 a0002c0015 a0003c0006 a0004c0007 a0004c0032 a0005c0014 a0006c0027 a0008c0011 a0009c0012 a0011c0025 a0012c0033 a0014c0029 a0015c0035 a0016c0030 a0017c0031 a0018c0019	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(18): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0002t0003 a0002c0015t0003 a0002c0015t0004 a0003c0006t0004 a0004c0007t0004 a0004c0007t0008 a0004c0032t0008 a0005c0014t0001 a0006c0027t0002 a0008c0011t0006 a0009c0012t0002 a0011c0025t0002 a0012c0033t0001 a0014c0029t0001 a0015c0035t0002 a0016c0030t0004 a0017c0031t0001 a0018c0019t0004	a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0004t0001g0107 others(24): Show a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0004t0001g0107 a0001c0004t0001g0110 a0001c0004t0001g0113 a0001c0004t0001g0114 a0002c0002t0001g0006 a0002c0002t0003g0053 a0002c0015t0003g0111 a0002c0015t0004g0112 a0003c0006t0004g0103 a0004c0007t0004g0109 a0004c0007t0008g0049 a0004c0007t0008g0102 a0004c0032t0008g0108 a0005c0014t0001g0002 a0006c0027t0002g0098 a0008c0011t0006g0048 a0008c0011t0006g0092 a0009c0012t0002g0126 a0011c0025t0002g0045 a0012c0033t0001g0101 a0014c0029t0001g0099 a0015c0035t0002g0106 a0016c0030t0004g0115 a0017c0031t0001g0105 a0018c0019t0004g0007	28	130	0.2154	-78	c.179 others(95): Show c.179+1822_179+1899delATGCTCCCTCTATAAAGTCATTGTTCTA GATGCCGGGATACAGAGATGAGTTTGATCATTTCATATCCTCAGAAGTCC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF6_chr11_36478769_36515272	36507099	GTGTATAT others(71): Show GTGTATATATGTATATATACATGTATTATACATACATAAATGTATATATG TATATATACATGTATTATACATACATAAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02897.hp2 others(1): Show HG02895.hp2 HG02896.hp2 HG02897.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0065 a0001c0001t0008 a0001c0001t0065	a0001c0001t0008g0010 a0001c0001t0065g0284 a0001c0001t0008g0010 a0001c0001t0065g0284	4	388	0.0103	-78	c.-23 others(95): Show c.-23+2871_-23+2948delTTTATGTATGTATAATACATGTATATAT ACATATATACATTTATGTATGTATAATACATGTATATATACATATATACA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAPPC9_chr8_139722725_140462744	139756762	GGTCGCAG others(71): Show GGTCGCAGGAGGAGCCAGGGTTTGGGGATGAGGACAGCATGTCGCAGGAG GAGCCAGGGATTGGGGATGAGGACAGCAT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0082 a0001c0001t0025g0082	1	98	0.0102	-78	c.305 others(99): Show c.3056-24638_3056-24561delATGCTGTCCTCATCCCCAATCCCT GGCTCCTCCTGCGACATGCTGTCCTCATCCCCAAACCCTGGCTCCTCCTG CGAC	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TRIM28_chr19_58539064_58555715	58539144	CCCTGCTT others(71): Show CCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCC TCCTCAGACAGGATTCTCCCCACACAGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18990.hp2 NA18998.hp2 others(2): Show NA18986.hp1 NA18990.hp2 NA18998.hp2 NA19077.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0003t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0003t0001g0004	5	402	0.0124	-78	c.-56 others(89): Show c.-5613_-5536delCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACA CACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGAA	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		4919		chr19	TogoVar
TRIM2_chr4_153199443_153344317	153244283	CTCCTCCT others(71): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCCTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0075 a0001c0003t0003g0075	1	268	0.0037	-78	c.31- others(95): Show c.31-26049_31-25972delCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTC	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRIM2_chr4_153199443_153344317	153244286	CTCCTCCT others(71): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCCTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	268	0.0037	-78	c.31- others(95): Show c.31-26046_31-25969delCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTC	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRPC4AP_chr20_34997404_35097807	35097392	CATATACA others(71): Show CATATACATATGTACACACGTGTGTATATATACATATGTACACACGTGTG TATATATACATATGTACACACGTGTGTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18982.hp1 NA18993.hp2 others(1): Show NA18950.hp2 NA18982.hp1 NA18993.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0072 a0001c0002t0001g0103 others(1): Show a0001c0002t0001g0057 a0001c0002t0001g0072 a0001c0002t0001g0103 a0001c0002t0001g0112	4	334	0.0120	-78	c.-46 others(89): Show c.-4689_-4612delATACACACGTGTGTACATATGTATATATACACAC GTGTGTACATATGTATATATACACACGTGTGTACATATGTATAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4586		chr20	TogoVar
TRPM2_chr21_44348621_44447644	44395938	GTGGAGGG others(71): Show GTGGAGGGGTGTGGAGGGGTGTGGAGGGCTGTGGAGGATGTGGAGGGGTG TGGAGGGCTGTGGAGGGATGTGGAGGCTC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0040 a0001c0008t0010g0040	1	44	0.0227	-78	c.193 others(95): Show c.1932+405_1932+482delGTGTGGAGGGCTGTGGAGGATGTGGAGG GGTGTGGAGGGCTGTGGAGGGATGTGGAGGCTCTGGAGGGGTGTGGAGGG	TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr21	TogoVar
TSEN2_chr3_12479480_12538658	12506108	ATACTATA others(71): Show ATACTATAATTCATATACCATACAATTTATCCACTTAAAGAGTACAAGTC GCTATTGTTTGGTATATTCATGGAGTCTC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01099.hp1 others(10): Show HG01074.hp2 HG01081.hp1 HG01099.hp1 HG02055.hp2 HG02258.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG03041.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0004 a0002c0003t0002 a0002c0003t0004	a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0024 others(8): Show a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0024 a0002c0003t0002g0025 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0004g0140	13	284	0.0458	-78	c.909 others(93): Show c.909+882_909+959delATAATTCATATACCATACAATTTATCCACT TAAAGAGTACAAGTCGCTATTGTTTGGTATATTCATGGAGTCTCTACT	TSEN2	ENSG00000154743.19	transcript	ENST00000284995.11	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
TSPAN32_chr11_2297013_2323204	2300108	GAGGGTGG others(71): Show GAGGGTGGGCAGGGGTGTGTGGGGTGGGCAGGGGTGTGTGGGGTGGGCAG GGGCATGTGGGGTGGGCAGGGGTGTGTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02698.hp2 HG02015.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0291 a0001c0001t0001g0284 a0001c0001t0001g0291	2	412	0.0049	-78	c.-20 others(89): Show c.-2041_-1964delAGGGTGGGCAGGGGTGTGTGGGGTGGGCAGGGGT GTGTGGGGTGGGCAGGGGCATGTGGGGTGGGCAGGGGTGTGTGA	TSPAN32	ENSG00000064201.16	transcript	ENST00000182290.9	protein_coding		1904		chr11	TogoVar
TTC39C_chr18_24009754_24140600	24045883	TTCTGTGA others(71): Show TTCTGTGAAAATATATATATATATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0137 a0001c0001t0029g0137	1	328	0.0031	-78	c.168 others(97): Show c.168-18256_168-18179delTCTGTGAAAATATATATATATATATA TATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG AC	TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13			chr18	TogoVar
TTC5_chr14_20281227_20310951	20310364	CACCCGGC others(71): Show CACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(83): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp1 HG02129.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02630.hp1 HG02698.hp1 HG03017.hp1 HG03098.hp2 HG03239.hp1 HG03491.hp1 HG03654.hp2 HG03669.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2 NA18940.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18961.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19011.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0025 a0001c0001t0026 others(9): Show a0001c0001t0001 a0001c0001t0025 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0014 a0001c0002t0015 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0009t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0025g0115 a0001c0001t0026g0220 a0001c0002t0001g0133 a0001c0002t0002g0004 a0001c0002t0002g0021 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0098 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0141 a0001c0002t0002g0144 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0003g0138 a0001c0002t0014g0145 a0001c0002t0015g0022 a0001c0002t0015g0143 a0001c0002t0035g0140 a0001c0002t0036g0135 a0001c0002t0037g0136 a0001c0009t0002g0128 a0001c0009t0002g0129	86	416	0.2067	-78	c.-45 others(89): Show c.-4505_-4428delAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGT	TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding		4414		chr14	TogoVar
TTC5_chr14_20281227_20310951	20310496	GGCCAGCT others(71): Show GGCCAGCTGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(51): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00741.hp2 HG01106.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp1 HG02129.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02630.hp1 HG02698.hp1 HG03017.hp1 HG03098.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp2 NA18950.hp1 NA18954.hp1 NA18961.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18980.hp2 NA18984.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19065.hp2 NA19070.hp2 NA19077.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 others(7): Show a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0014 a0001c0002t0015 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0009t0002	a0001c0001t0026g0220 a0001c0002t0001g0133 a0001c0002t0002g0004 others(29): Show a0001c0001t0026g0220 a0001c0002t0001g0133 a0001c0002t0002g0004 a0001c0002t0002g0021 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0098 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0141 a0001c0002t0002g0144 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0003g0138 a0001c0002t0014g0145 a0001c0002t0015g0022 a0001c0002t0015g0143 a0001c0002t0035g0140 a0001c0002t0036g0135 a0001c0002t0037g0136 a0001c0009t0002g0128 a0001c0009t0002g0129	54	416	0.1298	-78	c.-46 others(89): Show c.-4637_-4560delTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCAGCTGGC	TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding		4546		chr14	TogoVar
TUBGCP2_chr10_133273635_133313872	133292017	ATGTCCCT others(71): Show ATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCG TGTCCCCCGTGTCCCTCCGTGTCCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01433.hp2 others(2): Show HG00642.hp1 HG00642.hp2 HG01433.hp2 HG03654.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0002 a0001c0001t0001 a0001c0009t0002	a0001c0001t0001g0107 a0001c0001t0001g0184 a0001c0001t0001g0217 others(2): Show a0001c0001t0001g0107 a0001c0001t0001g0184 a0001c0001t0001g0217 a0001c0001t0001g0235 a0001c0009t0002g0041	5	284	0.0176	-78	c.121 others(95): Show c.1214+404_1214+481delCGGAGGGACACGGAGGGACACGGGGGAC ACGGAGGGACATGGGGGACACGGAGGGACACGGAGGGACACAGAGGGACA	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TYMS_chr18_652653_678578	666945	TGATGGTG others(71): Show TGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTG ATGGAGATGGTGATGGTGATGGAGATGGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG01069.hp2 others(4): Show HG00140.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01346.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016	a0001c0001t0002g0275 a0001c0001t0003g0239 a0001c0001t0003g0240 others(4): Show a0001c0001t0002g0275 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0276 a0001c0001t0016g0033	7	482	0.0145	-78	c.455 others(95): Show c.455-2109_455-2032delAGATGGTGATGGAGATGGAGATGGTGAT GGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667029	TGATGGAG others(71): Show TGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGTGATGGAG ATGGTGATGGTGATGGAGATGGAGATGGA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0050 a0001c0001t0012g0050	1	482	0.0021	-78	c.455 others(95): Show c.455-2037_455-1960delAGATGGTGATGGTGATGGAGATGGAGAT GGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGAGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667083	TGATGGTG others(71): Show TGATGGTGATGGAGATGGAGATGGAGATGGTGATGGTGATGGTGATGGAG ATGGTGATGGTGATGGTGATGGTGATGGA	T T	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0094 a0001c0002t0008g0094	1	482	0.0021	-78	c.455 others(95): Show c.455-1977_455-1900delAGATGGAGATGGAGATGGTGATGGTGAT GGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667387	GTGATGGA others(71): Show GTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGATGGAGATGGT GATGGTGATGGTGATGGTGATGATGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0038 a0001c0001t0018g0038	1	482	0.0021	-78	c.455 others(95): Show c.455-1682_455-1605delATGGAGATGGTGATGGTGATGGTGATGG TGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGATGGAGATG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UBE3A_chr15_25328728_25444024	25367171	ACATATTT others(71): Show ACATATTTGTAAATATGTAAATATTTACATATTTGTAAATATGTAAATAT TTACATATTTGTAAATATGTAAATATTTG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02258.hp1 HG02630.hp2 others(9): Show HG01496.hp2 HG02258.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG03098.hp1 HG03225.hp1 HG03453.hp1 HG03540.hp2 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0012 a0001c0002t0010 a0001c0002t0018 others(2): Show a0001c0001t0012 a0001c0002t0010 a0001c0002t0018 a0001c0002t0035 a0001c0003t0044	a0001c0001t0012g0236 a0001c0002t0010g0134 a0001c0002t0010g0137 others(9): Show a0001c0001t0012g0236 a0001c0002t0010g0134 a0001c0002t0010g0137 a0001c0002t0010g0138 a0001c0002t0010g0139 a0001c0002t0010g0143 a0001c0002t0010g0146 a0001c0002t0018g0142 a0001c0002t0018g0144 a0001c0002t0018g0145 a0001c0002t0035g0141 a0001c0003t0044g0059	12	298	0.0403	-78	c.160 others(97): Show c.1608+3317_1608+3394delCAAATATTTACATATTTACAAATATG TAAATATTTACATATTTACAAATATGTAAATATTTACATATTTACAAATA TG	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	6/12			chr15	TogoVar
UGT1A10_chr2_233631448_233778300	233725222	GGCAGAGG others(71): Show GGCAGAGGCAGAGGAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGAGGCAG AGGCAGAGGCAGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02809.hp2 others(4): Show HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG03098.hp2 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0001t0001 a0001c0001t0003 a0001c0002t0003	a0001c0001t0001g0157 a0001c0001t0001g0252 a0001c0001t0003g0134 others(4): Show a0001c0001t0001g0157 a0001c0001t0001g0252 a0001c0001t0003g0134 a0001c0001t0003g0268 a0001c0002t0003g0281 a0001c0002t0003g0282 a0001c0002t0003g0283	7	302	0.0232	-78	c.856 others(97): Show c.856-41810_856-41733delCAGAGGCAGAGGAGGCAGAGGCAGAG GAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGC AG	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233725222	GGCAGAGG others(71): Show GGCAGAGGCAGAGGAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGAGGCAG AGGCAGAGGCAGAGGCAGAGGCAGAGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG02818.hp1 others(3): Show HG02630.hp2 HG02809.hp2 HG02818.hp1 HG03098.hp1 NA19030.hp2 NA20129.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0001 a0002c0002t0005 a0006c0006t0001 a0002c0002t0001 a0002c0002t0005 a0006c0006t0001	a0002c0002t0001g0143 a0002c0002t0005g0140 a0002c0002t0005g0141 others(3): Show a0002c0002t0001g0143 a0002c0002t0005g0140 a0002c0002t0005g0141 a0002c0002t0005g0142 a0002c0002t0005g0144 a0006c0006t0001g0154	6	350	0.0171	-78	c.-39 others(89): Show c.-3904_-3827delGCAGAGGCAGAGGAGGCAGAGGCAGAGGAGGCAG AGGCAGAGGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCA	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding		3819		chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233725222	GGCAGAGG others(71): Show GGCAGAGGCAGAGGAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGAGGCAG AGGCAGAGGCAGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02809.hp1 others(4): Show HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG03098.hp2 NA19030.hp1 NA20129.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0001 a0004c0005 a0004c0010 others(1): Show a0001c0001 a0004c0005 a0004c0010 a0013c0025	a0001c0001t0001 a0004c0005t0001 a0004c0005t0003 others(2): Show a0001c0001t0001 a0004c0005t0001 a0004c0005t0003 a0004c0010t0003 a0013c0025t0003	a0001c0001t0001g0137 a0004c0005t0001g0041 a0004c0005t0003g0037 others(4): Show a0001c0001t0001g0137 a0004c0005t0001g0041 a0004c0005t0003g0037 a0004c0005t0003g0039 a0004c0010t0003g0038 a0004c0010t0003g0040 a0013c0025t0003g0042	7	332	0.0211	-78	c.867 others(95): Show c.867+5537_867+5614delCAGAGGCAGAGGAGGCAGAGGCAGAGGA GGCAGAGGCAGAGGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233725222	GGCAGAGG others(71): Show GGCAGAGGCAGAGGAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGAGGCAG AGGCAGAGGCAGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG02809.hp1 others(4): Show HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG03098.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0066 a0001c0001t0001g0174 a0001c0001t0003g0169 others(4): Show a0001c0001t0001g0066 a0001c0001t0001g0174 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173	7	330	0.0212	-78	c.867 others(97): Show c.867+11366_867+11443delCAGAGGCAGAGGAGGCAGAGGCAGAG GAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGC AG	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233725222	GGCAGAGG others(71): Show GGCAGAGGCAGAGGAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGAGGCAG AGGCAGAGGCAGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG02809.hp1 others(4): Show HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG03098.hp2 NA19030.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0003c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0003c0005t0001 a0003c0005t0003	a0001c0001t0001g0074 a0001c0001t0003g0119 a0001c0001t0003g0122 others(4): Show a0001c0001t0001g0074 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0003c0005t0001g0144 a0003c0005t0003g0143	7	332	0.0211	-78	c.861 others(97): Show c.861+31359_861+31436delCAGAGGCAGAGGAGGCAGAGGCAGAG GAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGC AG	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233725222	GGCAGAGG others(71): Show GGCAGAGGCAGAGGAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGAGGCAG AGGCAGAGGCAGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02809.hp2 others(4): Show HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG03098.hp2 NA19030.hp1 NA20129.hp1	a0003 a0011 a0003 a0011	a0003c0003 a0003c0004 a0011c0009 a0003c0003 a0003c0004 a0011c0009	a0003c0003t0001 a0003c0003t0003 a0003c0004t0001 others(1): Show a0003c0003t0001 a0003c0003t0003 a0003c0004t0001 a0011c0009t0003	a0003c0003t0001g0143 a0003c0003t0003g0131 a0003c0003t0003g0135 others(4): Show a0003c0003t0001g0143 a0003c0003t0003g0131 a0003c0003t0003g0135 a0003c0003t0003g0168 a0003c0003t0003g0171 a0003c0004t0001g0023 a0011c0009t0003g0020	7	320	0.0219	-78	c.856 others(97): Show c.856-41810_856-41733delCAGAGGCAGAGGAGGCAGAGGCAGAG GAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGC AG	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233725222	GGCAGAGG others(71): Show GGCAGAGGCAGAGGAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGAGGCAG AGGCAGAGGCAGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02809.hp1 others(4): Show HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG03098.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0003t0003	a0001c0001t0001g0006 a0001c0001t0001g0189 a0001c0001t0003g0283 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0189 a0001c0001t0003g0283 a0001c0001t0007g0242 a0001c0003t0003g0116 a0001c0003t0003g0117 a0001c0003t0003g0118	7	290	0.0241	-78	c.856 others(97): Show c.856-41810_856-41733delCAGAGGCAGAGGAGGCAGAGGCAGAG GAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGC AG	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233725222	GGCAGAGG others(71): Show GGCAGAGGCAGAGGAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGAGGCAG AGGCAGAGGCAGAGGCAGAGGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02809.hp2 others(4): Show HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG03098.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0015 a0001c0001 a0001c0014 a0001c0015	a0001c0001t0001 a0001c0001t0003 a0001c0014t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0014t0003 a0001c0015t0001	a0001c0001t0001g0017 a0001c0001t0003g0013 a0001c0001t0003g0014 others(4): Show a0001c0001t0001g0017 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0014t0003g0188 a0001c0015t0001g0185	7	318	0.0220	-78	c.856 others(97): Show c.856-41810_856-41733delCAGAGGCAGAGGAGGCAGAGGCAGAG GAGGCAGAGGCAGAGGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGC AG	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK4_chr3_41241599_41967103	41306254	GTCCGGGA others(71): Show GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCCGCCAGCCGCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01243.hp2 HG01934.hp2 others(9): Show HG01169.hp1 HG01243.hp2 HG01934.hp2 HG02257.hp1 HG02451.hp1 HG02572.hp2 HG02818.hp2 HG02970.hp1 HG02976.hp1 HG03540.hp2 NA18522.hp1 NA19043.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0008	a0001c0001 a0002c0004 a0004c0002 others(3): Show a0001c0001 a0002c0004 a0004c0002 a0005c0006 a0005c0013 a0008c0010	a0001c0001t0001 a0002c0004t0002 a0004c0002t0001 others(5): Show a0001c0001t0001 a0002c0004t0002 a0004c0002t0001 a0004c0002t0002 a0004c0002t0005 a0005c0006t0004 a0005c0013t0002 a0008c0010t0002	a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0053 others(9): Show a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0053 a0002c0004t0002g0015 a0004c0002t0001g0006 a0004c0002t0002g0007 a0004c0002t0002g0008 a0004c0002t0002g0009 a0004c0002t0005g0067 a0005c0006t0004g0002 a0005c0013t0002g0017 a0008c0010t0002g0056	12	72	0.1667	-78	c.367 others(99): Show c.3679-56758_3679-56681delTGGGGCGGCTGGCGGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
UNC93B1_chr11_67986100_68009097	67995957	CGGGGGTG others(71): Show CGGGGGTGCCTCACCCCCCTGCGATGGGGGTCCTAAGAGCCAGGGGGGAA GAGGGTCTGGCTCTTACTCCCCGCATCGT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	370	0.0027	-78	c.109 others(94): Show c.1090-151_1090-74delACGATGCGGGGAGTAAGAGCCAGACCCTC TTCCCCCCTGGCTCTTAGGACCCCCATCGCAGGGGGGTGAGGCACCCCC	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding	8/10			chr11	TogoVar
UNKL_chr16_1358205_1419704	1387070	AGACCCTC others(71): Show AGACCCTCCCAGCCATGCAGCACCGGGGACCCTCCCAGCAATGCAGCACC GGGGACCCTCCCAGCCATGCAGCACCGGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0290 a0001c0001t0014g0290	1	322	0.0031	-78	c.108 others(97): Show c.1087-1763_1087-1686delCCCGGTGCTGCATGGCTGGGAGGGTC CCCGGTGCTGCATTGCTGGGAGGGTCCCCGGTGCTGCATGGCTGGGAGGG TC	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	9/14			chr16	TogoVar
USP40_chr2_233470526_233571782	233567638	CTATATAA others(71): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0276 a0002c0002t0001g0276	1	324	0.0031	-78	c.-10 others(88): Show c.-1052_-975delACTATAATCTTATATAAGGTTATATAGCTATAATC TTATATAAGGTTATATAGCTATAATCTTATATAAGGTTATATA	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		857		chr2	TogoVar
USP6NL_chr10_11455510_11616650	11514163	AGGGCGCA others(71): Show AGGGCGCATATCATGTTCCTTAACAACTCTACCCAATGGTCTCATCATCC GTTGATGATTCCTACCTGAATCAATTATG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00597.hp1 others(51): Show HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01943.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02293.hp1 HG02735.hp2 HG03017.hp1 HG03239.hp1 HG03654.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp2 NA18612.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18952.hp2 NA18959.hp2 NA18963.hp2 NA18978.hp1 NA18980.hp2 NA18986.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19063.hp1 NA19064.hp1 NA19068.hp2 NA19076.hp1 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19090.hp2 NA20300.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0005c0013 a0006c0008	a0001c0001t0008 a0001c0001t0025 a0001c0001t0031 others(12): Show a0001c0001t0008 a0001c0001t0025 a0001c0001t0031 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0025 a0001c0002t0049 a0001c0004t0004 a0001c0004t0005 a0005c0013t0008 a0006c0008t0008	a0001c0001t0008g0127 a0001c0001t0008g0128 a0001c0001t0025g0129 others(51): Show a0001c0001t0008g0127 a0001c0001t0008g0128 a0001c0001t0025g0129 a0001c0001t0031g0159 a0001c0002t0002g0162 a0001c0002t0004g0002 a0001c0002t0004g0122 a0001c0002t0004g0124 a0001c0002t0004g0130 a0001c0002t0004g0131 a0001c0002t0004g0135 a0001c0002t0004g0136 a0001c0002t0004g0137 a0001c0002t0004g0144 a0001c0002t0004g0147 a0001c0002t0004g0155 a0001c0002t0004g0189 a0001c0002t0004g0284 a0001c0002t0005g0123 a0001c0002t0005g0126 a0001c0002t0005g0132 a0001c0002t0005g0142 a0001c0002t0005g0145 a0001c0002t0005g0146 a0001c0002t0005g0153 a0001c0002t0005g0156 a0001c0002t0005g0157 a0001c0002t0005g0187 a0001c0002t0005g0216 a0001c0002t0005g0217 a0001c0002t0005g0218 a0001c0002t0005g0300 a0001c0002t0008g0138 a0001c0002t0008g0139 a0001c0002t0008g0143 a0001c0002t0008g0149 a0001c0002t0008g0161 a0001c0002t0008g0186 a0001c0002t0008g0188 a0001c0002t0010g0150 a0001c0002t0011g0119 a0001c0002t0011g0125 a0001c0002t0011g0134 a0001c0002t0011g0151 a0001c0002t0011g0160 a0001c0002t0011g0209 a0001c0002t0025g0140 a0001c0002t0025g0158 a0001c0002t0049g0397 a0001c0004t0004g0203 a0001c0004t0005g0133 a0001c0004t0005g0152 a0005c0013t0008g0120 a0006c0008t0008g0121	54	402	0.1343	-78	c.195 others(95): Show c.195+4294_195+4371delCATAATTGATTCAGGTAGGAATCATCAA CGGATGATGAGACCATTGGGTAGAGTTGTTAAGGAACATGATATGCGCCC	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	5/14			chr10	TogoVar
USP7_chr16_8887097_8968906	8953938	CTGCGGCG others(71): Show CTGCGGCGCCACTGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCA CTGGAGGCAGAGGGAAGACACGTGCCCCA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(220): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02965.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18943.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0026 a0001c0001t0030 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0002t0001 a0003c0004t0011	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0019 others(216): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0187 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0269 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0002g0005 a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0139 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0003g0081 a0001c0001t0003g0121 a0001c0001t0003g0138 a0001c0001t0003g0202 a0001c0001t0003g0292 a0001c0001t0003g0297 a0001c0001t0004g0006 a0001c0001t0004g0071 a0001c0001t0004g0092 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0162 a0001c0001t0004g0235 a0001c0001t0004g0240 a0001c0001t0004g0259 a0001c0001t0004g0285 a0001c0001t0004g0301 a0001c0001t0004g0304 a0001c0001t0005g0120 a0001c0001t0005g0245 a0001c0001t0005g0261 a0001c0001t0005g0263 a0001c0001t0005g0271 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0009g0008 a0001c0001t0010g0234 a0001c0001t0010g0236 a0001c0001t0010g0280 a0001c0001t0011g0108 a0001c0001t0013g0257 a0001c0001t0013g0258 a0001c0001t0015g0317 a0001c0001t0015g0318 a0001c0001t0017g0007 a0001c0001t0019g0289 a0001c0001t0021g0140 a0001c0001t0026g0228 a0001c0001t0030g0151 a0001c0001t0034g0319 a0001c0001t0036g0329 a0001c0001t0038g0331 a0001c0001t0039g0332 a0001c0002t0001g0091 a0001c0002t0001g0118 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0141 a0001c0002t0001g0227 a0001c0002t0001g0239 a0003c0004t0011g0018	223	338	0.6598	-78	c.79+ others(93): Show c.79+9191_79+9268delTGGGGCACGTGTCTTCCCTCTGCCTCCAGT GGCGCCGCAGGGGGCACGTGTCTTCCCTCTGCCTCCAGTGGCGCCGCA	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
UVRAG_chr11_75810210_76149232	75877630	CGGACGGA others(71): Show CGGACGGAGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCTGGGCAGAGGCGCCCCTCACCTCCT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	146	0.0069	-78	c.271 others(95): Show c.271-2242_271-2165delAGCGGCTGGCCAGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCTGGACGG	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
VAPB_chr20_58384229_58456101	58414015	CCCTCCCA others(71): Show CCCTCCCAGATAGGGCGGCTGGCCTGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCAGGCAGAGGCGCCCCTCA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01071.hp1 others(4): Show HG00642.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0029 a0001c0001t0034 a0001c0001t0005 a0001c0001t0029 a0001c0001t0034	a0001c0001t0005g0350 a0001c0001t0005g0351 a0001c0001t0005g0352 others(4): Show a0001c0001t0005g0350 a0001c0001t0005g0351 a0001c0001t0005g0352 a0001c0001t0005g0353 a0001c0001t0005g0354 a0001c0001t0029g0349 a0001c0001t0034g0355	7	370	0.0189	-78	c.59- others(93): Show c.59-4189_59-4112delAGATAGGGCGGCTGGCCTGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCC	VAPB	ENSG00000124164.16	transcript	ENST00000475243.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
VEGFC_chr4_176678538_176797922	176740021	TCGATATA others(71): Show TCGATATATCGAATATATATAACTATTCGATATATAGAATATATATAACT ATATATTATATATTCTATATATTCTATAC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	224	0.0045	-78	c.148 others(97): Show c.148-10353_148-10276delGTATAGAATATATAGAATATATAATA TATAGTTATATATATTCTATATATCGAATAGTTATATATATTCGATATAT CG	VEGFC	ENSG00000150630.4	transcript	ENST00000618562.2	protein_coding	1/6			chr4	TogoVar
VGLL4_chr3_11551069_11648915	11573247	GAAAGAAA others(71): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGGAAGGAAGGAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02723.hp2 others(2): Show HG01884.hp2 HG02109.hp1 HG02723.hp2 HG02809.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0002t0002 a0001c0001t0001 a0001c0001t0015 a0001c0002t0002	a0001c0001t0001g0099 a0001c0001t0015g0092 a0001c0001t0015g0115 others(2): Show a0001c0001t0001g0099 a0001c0001t0015g0092 a0001c0001t0015g0115 a0001c0002t0002g0248 a0001c0002t0002g0263	5	388	0.0129	-78	c.273 others(95): Show c.273-8306_273-8229delTTCTTTCTTCCTTCCTTCCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
WWOX_chr16_78094654_79217667	78574999	TTATATAT others(71): Show TTATATATATATATATATATATAAATATATATATATATATATATATATAT ATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18522.hp2 HG02922.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0084 a0001c0001t0013g0102 a0001c0001t0004g0084 a0001c0001t0013g0102	2	142	0.0141	-78	c.105 others(101): Show c.1056+142267_1056+142344delATAAATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATAT	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
XKR6_chr8_10891045_11206833	11033272	CGATGATG others(71): Show CGATGATGACGATAGTGATGGTGATGGTGGTGGTGATGATGATGATGACG ATAGTGATGGTGATGGTGGTGGTGATGAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02559.hp1 others(10): Show HG02055.hp2 HG02257.hp1 HG02559.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp1 NA18522.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019	a0001c0001t0001g0066 a0001c0001t0002g0150 a0001c0001t0002g0162 others(10): Show a0001c0001t0001g0066 a0001c0001t0002g0150 a0001c0001t0002g0162 a0001c0001t0003g0067 a0001c0001t0005g0171 a0001c0001t0006g0102 a0001c0001t0007g0116 a0001c0001t0010g0163 a0001c0001t0010g0167 a0001c0001t0016g0069 a0001c0001t0016g0103 a0001c0001t0019g0032 a0001c0001t0019g0033	13	178	0.0730	-78	c.765 others(99): Show c.765-108520_765-108443delATCATCACCACCACCATCACCATC ACTATCGTCATCATCATCATCACCACCACCATCACCATCACTATCGTCAT CATC	XKR6	ENSG00000171044.11	transcript	ENST00000416569.3	protein_coding	1/2			chr8	TogoVar
XNDC1N_chr11_71875704_71933594	71891900	TGTACACC others(71): Show TGTACACCCCCTGTGATATTGGGAGTAACATCATTCTCTCCACCTCCGGA TATTAAGAACAATATCCCGGCGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	338	0.0030	-78	c.523 others(95): Show c.523-7357_523-7280delCACCTCCCGCCGGGATATTGTTCTTAAT ATCCGGAGGTGGAGAGAATGATGTTACTCCCAATATCACAGGGGGTGTAC	XNDC1N	ENSG00000254469.11	transcript	ENST00000679412.2	protein_coding	5/5			chr11	TogoVar
XPC_chr3_14140147_14183601	14154795	TAATATTT others(71): Show TAATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAAT TTATAAATATTATAAATTATTATAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(267): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018	a0001c0003 a0001c0005 a0001c0006 others(18): Show a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0002c0018 a0003c0002 a0004c0004 a0005c0008 a0005c0017 a0006c0009 a0008c0011 a0009c0014 a0011c0021 a0012c0016 a0013c0026 a0014c0015 a0015c0024 a0016c0025 a0017c0023 a0018c0020	a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 others(24): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0001c0003t0009 a0001c0005t0001 a0001c0005t0003 a0001c0005t0010 a0001c0006t0001 a0001c0007t0007 a0001c0012t0001 a0002c0018t0003 a0003c0002t0002 a0003c0002t0004 a0004c0004t0001 a0005c0008t0004 a0005c0017t0004 a0006c0009t0003 a0008c0011t0008 a0009c0014t0003 a0011c0021t0003 a0012c0016t0002 a0013c0026t0001 a0014c0015t0001 a0015c0024t0002 a0016c0025t0001 a0017c0023t0002 a0018c0020t0003	a0001c0003t0001g0024 a0001c0003t0001g0042 a0001c0003t0003g0003 others(126): Show a0001c0003t0001g0024 a0001c0003t0001g0042 a0001c0003t0003g0003 a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0010 a0001c0003t0003g0015 a0001c0003t0003g0020 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0060 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0003t0003g0069 a0001c0003t0003g0070 a0001c0003t0003g0072 a0001c0003t0003g0073 a0001c0003t0003g0075 a0001c0003t0003g0077 a0001c0003t0003g0078 a0001c0003t0003g0079 a0001c0003t0003g0080 a0001c0003t0003g0081 a0001c0003t0003g0082 a0001c0003t0003g0083 a0001c0003t0003g0084 a0001c0003t0003g0087 a0001c0003t0003g0091 a0001c0003t0003g0092 a0001c0003t0003g0093 a0001c0003t0003g0094 a0001c0003t0006g0034 a0001c0003t0006g0035 a0001c0003t0006g0074 a0001c0003t0009g0086 a0001c0005t0001g0021 a0001c0005t0001g0022 a0001c0005t0001g0030 a0001c0005t0001g0039 a0001c0005t0001g0040 a0001c0005t0001g0098 a0001c0005t0001g0099 a0001c0005t0001g0101 a0001c0005t0001g0102 a0001c0005t0001g0103 a0001c0005t0001g0104 a0001c0005t0001g0123 a0001c0005t0001g0124 a0001c0005t0001g0162 a0001c0005t0003g0063 a0001c0005t0010g0156 a0001c0006t0001g0029 a0001c0006t0001g0050 a0001c0006t0001g0159 a0001c0007t0007g0019 a0001c0007t0007g0052 a0001c0012t0001g0100 a0001c0012t0001g0126 a0002c0018t0003g0085 a0003c0002t0002g0001 a0003c0002t0002g0011 a0003c0002t0002g0012 a0003c0002t0002g0013 a0003c0002t0002g0016 a0003c0002t0002g0023 a0003c0002t0002g0041 a0003c0002t0002g0095 a0003c0002t0002g0105 a0003c0002t0002g0107 a0003c0002t0002g0108 a0003c0002t0002g0109 a0003c0002t0002g0110 a0003c0002t0002g0111 a0003c0002t0002g0112 a0003c0002t0002g0113 a0003c0002t0002g0114 a0003c0002t0002g0115 a0003c0002t0002g0116 a0003c0002t0002g0117 a0003c0002t0002g0118 a0003c0002t0002g0119 a0003c0002t0002g0122 a0003c0002t0002g0125 a0003c0002t0004g0005 a0003c0002t0004g0053 a0003c0002t0004g0054 a0003c0002t0004g0055 a0003c0002t0004g0056 a0003c0002t0004g0058 a0003c0002t0004g0059 a0004c0004t0001g0004 a0004c0004t0001g0007 a0004c0004t0001g0031 a0004c0004t0001g0051 a0004c0004t0001g0163 a0004c0004t0001g0164 a0004c0004t0001g0165 a0004c0004t0001g0166 a0004c0004t0001g0167 a0004c0004t0001g0170 a0004c0004t0001g0171 a0004c0004t0001g0172 a0004c0004t0001g0174 a0004c0004t0001g0175 a0004c0004t0001g0176 a0004c0004t0001g0177 a0004c0004t0001g0178 a0004c0004t0001g0179 a0005c0008t0004g0032 a0005c0008t0004g0033 a0005c0017t0004g0057 a0006c0009t0003g0088 a0006c0009t0003g0089 a0006c0009t0003g0090 a0008c0011t0008g0043 a0009c0014t0003g0038 a0011c0021t0003g0071 a0012c0016t0002g0106 a0013c0026t0001g0173 a0014c0015t0001g0096 a0015c0024t0002g0121 a0016c0025t0001g0169 a0017c0023t0002g0120 a0018c0020t0003g0076	270	374	0.7219	-78	c.203 others(97): Show c.2033+1462_2033+1539delTTTTTTATAATAATTTATAATATTTA TAAATTATATATATTTATATATATAAATAAATTTATAATATTTATAAATA TT	XPC	ENSG00000154767.15	transcript	ENST00000285021.12	protein_coding	10/15			chr3	TogoVar

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