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
TRIM28_chr19_58539064_58555715	58539137	A A	ACACACAC others(188): Show ACACACACCCTGCTTCCCTGCTCAGACAGGATTCTCCCCACACAGAACCT GCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCT CAGACAGGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACAGGATT CTTCTCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02896.hp2 HG02897.hp1 others(3): Show HG02647.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	6	299	0.0201	195	c.-56 others(206): Show c.-5621_-5620insCACACACCCTGCTTCCCTGCTCAGACAGGATTCT CCCCACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACA CCCTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCCC TCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACAG GATTCTCCCCC	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		4926		chr19	TogoVar
TRIM28_chr19_58539064_58555715	58542311	C C	CCACACAC others(188): Show CCACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACATACACCCT GCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCT CAGACAGGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGGCT CCCCTCCCCACACAGACCCTCTTTCCCTCAGACAGGATTTTCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01952.hp2 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02615.hp2 HG02970.hp2 HG03017.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04199.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp2 NA19005.hp2 NA19009.hp1 NA19054.hp2 NA19057.hp1 NA19059.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0004t0001 a0001c0006t0001 a0001c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0006g0003 a0001c0001t0011g0003 a0001c0001t0012g0008 a0001c0004t0001g0003 a0001c0004t0001g0032 a0001c0006t0001g0002 a0001c0008t0001g0002	88	386	0.2280	195	c.-24 others(206): Show c.-2447_-2446insCACACACCCTGCTTCCCTCCTCAGACAGGATTCT CCCCACATACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACA CCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGACCCTGCTTCCC TCCTCAGACAGGGCTCCCCTCCCCACACAGACCCTCTTTCCCTCAGACAG GATTTTCCCCA	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		1752		chr19	TogoVar
TRIM28_chr19_58539064_58555715	58542433	G G	GACCCTGC others(188): Show GACCCTGCTTCCCTCCTCAGACAGGGCTCCCCTCCCCACACAGACCCTCT TTCCCTCAGACAGGATTTTCCCCACACACACCCTGCTTCCCTCCTCAGAC AGGATTCTCCCCACATACACCCTGCTTCCCTCCTCAGACAGGATTCTCCC CACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	400	0.0025	195	c.-23 others(206): Show c.-2325_-2324insACCCTGCTTCCCTCCTCAGACAGGGCTCCCCTCC CCACACAGACCCTCTTTCCCTCAGACAGGATTTTCCCCACACACACCCTG CTTCCCTCCTCAGACAGGATTCTCCCCACATACACCCTGCTTCCCTCCTC AGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTC TCCCCACACAC	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		1630		chr19	TogoVar
TRIM67_chr1_231157058_231226565	231202260	A A	ACATAGTG others(188): Show ACATAGTGGAGGAGGAGGAGGTGGAAGAGGAGGAGGTGGTGGCTGAGATA ATGGAGGAGGAGGAGGAGGTAATGGTGGAGGAGGAGATGGAGGAGGAGGA AGAGGTAGCGGAGGAGGAGGTAGTGGAGGAGGAGGTGGAAGAGGAGGAGG GTGGTGGCTGAGATAGTGGAGGAGGAGGAGGTAGTAGGAGAGGAGG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0021 a0001c0005t0021	a0001c0005t0021g0109 a0001c0005t0021g0109	1	349	0.0029	195	c.153 others(212): Show c.1534+743_1534+744insCATAGTGGAGGAGGAGGAGGTGGAAGAG GAGGAGGTGGTGGCTGAGATAATGGAGGAGGAGGAGGAGGTAATGGTGGA GGAGGAGATGGAGGAGGAGGAAGAGGTAGCGGAGGAGGAGGTAGTGGAGG AGGAGGTGGAAGAGGAGGAGGGTGGTGGCTGAGATAGTGGAGGAGGAGGA GGTAGTAGGAGAGGAGG	TRIM67	ENSG00000119283.16	transcript	ENST00000366653.6	protein_coding	5/9			chr1	TogoVar
TRIML1_chr4_188134441_188152743	188152162	G G	GGGGGTGA others(188): Show GGGGGTGAGAAGGGGTGTGAGAGTGGGGGTTGAGAAGGGGGAGTGAGAGA GAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGG GGGGTGAGAAGGGGAGTGAGAGTGGGGGAGAGAAGGGGAGTGAGAGAGGG GTTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0090 a0001c0004t0001g0090	1	226	0.0044	195	c.47 others(206): Show c.4790_*4791insGGGGTGAGAAGGGGTGTGAGAGTGGGGGTTGAGA AGGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGTGGGGGAGAGAAG GGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGG GGAGTGAGAGA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4420		chr4	TogoVar
TRPM5_chr11_2399515_2449514	2430710	T T	TTGGTGGT others(188): Show TTGGTGGTGGTTTTGGTGGCGGTGATGGTGTTGATGGTGGTGGTGGTTTT GGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTTTTGGTGGCGGTGA TGGTGATGGTGTTGATGGTGATGGTGGTTTTGGTGGTGGTGATGGTGGTG TTGATGGTGGTGGTGGTTTTGGTGGTGGTGATGGTGGTGTTGATGG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0004 a0003c0009t0004	a0003c0009t0004g0392 a0003c0009t0004g0392	1	388	0.0026	195	c.-40 others(214): Show c.-407+1477_-407+1478insCCATCAACACCACCATCACCACCACC AAAACCACCACCACCATCAACACCACCATCACCACCACCAAAACCACCAT CACCATCAACACCATCACCATCACCGCCACCAAAACCACCACCACCATCA ACACCACCATCACCACCACCAAAACCACCACCACCATCAACACCATCACC GCCACCAAAACCACCACCA	TRPM5	ENSG00000070985.14	transcript	ENST00000696290.1	protein_coding	3/28			chr11	TogoVar
TTLL10_chr1_1168880_1202936	1192800	G G	GAGTGTAG others(188): Show GAGTGTAGACACTCCAGTTGATATCAGTGTAGACACTCCAGTTGGTATGA GTGTAGACACTCCAGTTGGTATGAGTGTAGACACTCCAGTTCGTATCAGT GTAAACACTCCAGTTGGTATGAGTGTAGACACTCCAGTTGATATCAGTGT AGACACTCCAGTTGGTATGAGTGTAGACACTCCAGTTGTTCATATC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0110 a0002c0001t0002g0110	1	253	0.0040	195	c.140 others(214): Show c.1402-3781_1402-3780insATATCAGTGTAGACACTCCAGTTGGT ATGAGTGTAGACACTCCAGTTGGTATGAGTGTAGACACTCCAGTTCGTAT CAGTGTAAACACTCCAGTTGGTATGAGTGTAGACACTCCAGTTGATATCA GTGTAGACACTCCAGTTGGTATGAGTGTAGACACTCCAGTTGTTCATATC AGTGTAGACACTCCAGTTG	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
TWIST2_chr2_238843085_238915534	238870313	A A	ACACCCCA others(188): Show ACACCCCACACCCCACACCCCACACCCCACCCACCCCACACACACCACAC CCCCACACACACCCCACACACCCACACACACCACACACCCCCCACACACC ACACCCCATACACACCACACCCCCACACACCACACACCCCCACACACCAC CACCCCACACACACCACACCCCACACACACCACACCCCACACACAC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	328	0.0030	195	c.35 others(214): Show c.35+21586_*35+21587insACACCCCACACCCCACACCCCACCCA CCCCACACACACCACACCCCCACACACACCCCACACACCCACACACACCA CACACCCCCCACACACCACACCCCATACACACCACACCCCCACACACCAC ACACCCCCACACACCACCACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACCCC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870452	C C	CACCCCAC others(188): Show CACCCCACACACACCACACCCCATACACACCACACACACCACACACACCA CACCCCACACACACCACACACCCCACACACACATCACATACCACACACAC ACCACACCCCATACACACCACACACACCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01109.hp2 HG01952.hp2 others(5): Show HG00408.hp1 HG01109.hp2 HG01952.hp2 HG01981.hp1 NA18941.hp1 NA18962.hp2 NA18970.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0071 others(5): Show a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0300 a0001c0001t0002g0020 a0001c0001t0002g0079	8	331	0.0242	195	c.35 others(214): Show c.35+21721_*35+21722insCCCACACACACCACACCCCATACACA CCACACACACCACACACACCACACCCCACACACACCACACACCCCACACA CACATCACATACCACACACACACCACACCCCATACACACCACACACACCA CACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCA CACACACCACACCCCATAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870452	C C	CACCCCAC others(188): Show CACCCCACACACACCACACCCCATACACACCACACACACCACACACACCA CACCCCACACACACCCCACACCCCACACACACATCACATACCACACACAC ACCACACCCCATACACACCACACACACCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	324	0.0031	195	c.35 others(214): Show c.35+21721_*35+21722insCCCACACACACCACACCCCATACACA CCACACACACCACACACACCACACCCCACACACACCCCACACCCCACACA CACATCACATACCACACACACACCACACCCCATACACACCACACACACCA CACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCA CACACACCACACCCCATAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870555	C C	CACCCCAC others(188): Show CACCCCACACACACCACACCCCATACACACCACACACACCACACACACCA CACCCCACACACACCACACACCCCACACACACATCACATACCACACACAC ACCACACCCCATACACACCACACACACCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	332	0.0030	195	c.35 others(214): Show c.35+21824_*35+21825insCCCACACACACCACACCCCATACACA CCACACACACCACACACACCACACCCCACACACACCACACACCCCACACA CACATCACATACCACACACACACCACACCCCATACACACCACACACACCA CACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCA CACACACCACACCCCATAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(188): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATACGTATATATATGTATATATATACGTA TATATACGTATATATATGTATATATATATGTATATATACGTATATATATA CGTATATATATATGTATATATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	95	0.0105	195	c.114 others(216): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATATATA TATACATATATATACGTATATATACGTATATATATACATATATATACGTA TATATATACGTATATATATATACATATATATACGTATATAATATATACGT ATATATATATACATATATATA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UGT1A10_chr2_233631448_233778300	233725219	G G	GGGAGAGG others(188): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	261	0.0038	195	c.856 others(214): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAG	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233725219	G G	GGGAGAGG others(188): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG02280.hp2 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0005 a0002c0002t0004 a0002c0002t0005	a0002c0002t0004g0117 a0002c0002t0005g0003 a0002c0002t0004g0117 a0002c0002t0005g0003	2	308	0.0065	195	c.-39 others(206): Show c.-3908_-3907insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGA	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding		3822		chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233725219	G G	GGGAGAGG others(188): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp1 HG02280.hp1 HG02622.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0003 a0001c0001t0002 a0003c0004t0003	a0001c0001t0002g0049 a0003c0004t0003g0003 a0001c0001t0002g0049 a0003c0004t0003g0003	2	288	0.0069	195	c.867 others(212): Show c.867+5533_867+5534insGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAG	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233725219	G G	GGGAGAGG others(188): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02280.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0104 a0001c0001t0003g0002 a0001c0001t0002g0104 a0001c0001t0003g0002	2	286	0.0070	195	c.867 others(214): Show c.867+11362_867+11363insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAG	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233725219	G G	GGGAGAGG others(188): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG02280.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0253 a0001c0001t0003g0002 a0001c0001t0002g0253 a0001c0001t0003g0002	2	287	0.0070	195	c.861 others(214): Show c.861+31355_861+31356insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAG	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233725219	G G	GGGAGAGG others(188): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02280.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0275 a0001c0001t0003g0001 a0001c0001t0002g0275 a0001c0001t0003g0001	2	276	0.0072	195	c.856 others(214): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAG	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233725219	G G	GGGAGAGG others(188): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	251	0.0040	195	c.856 others(214): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAG	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233725219	G G	GGGAGAGG others(188): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp1 HG02280.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0157 a0001c0001t0003g0001 a0001c0001t0002g0157 a0001c0001t0003g0001	2	276	0.0072	195	c.856 others(214): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAG	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
USP7_chr16_8887097_8968906	8953704	G G	GTGCGGCG others(188): Show GTGCGGCGCCACCGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCA CCGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCACCGGAGGCAGA GGGAAGACACGTGCCCCCTGCGGCGCCACCGGAGGCAGAGGGAAGACACG TGCCCCCTGCGGCGCCACCGGAGGCAGAGGGAAGACACGTGCCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01106.hp1 others(3): Show HG00280.hp1 HG00642.hp2 HG01106.hp1 HG01109.hp1 HG03710.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0035 a0001c0001t0001g0051 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0053 a0002c0007t0001g0036	6	312	0.0192	195	c.79+ others(210): Show c.79+9502_79+9503insGGGGGCACGTGTCTTCCCTCTGCCTCCGGT GGCGCCGCAGGGGGCACGTGTCTTCCCTCTGCCTCCGGTGGCGCCGCAGG GGGCACGTGTCTTCCCTCTGCCTCCGGTGGCGCCGCAGGGGGCACGTGTC TTCCCTCTGCCTCCGGTGGCGCCGCAGGGGGCACGTGTCTTCCCTCTGCC TCCGGTGGCGCCGCA	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8953813	C C	CGTGCCCC others(188): Show CGTGCCCCGTGCGGCGCCACTGGAGGCAGAGGGAAGACACGTGCCCCCTG CGGCGCCACTGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCACTG GAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCACTGGAGGCAGAGGG AAGACACGTGCCCCATGCGGCGCCACTGGAGGCAGAGGGAAGACAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG03225.hp1 HG02145.hp1 HG02486.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0112 a0001c0001t0001g0178 a0001c0005t0001g0176 a0001c0001t0001g0112 a0001c0001t0001g0178 a0001c0005t0001g0176	3	288	0.0104	195	c.79+ others(210): Show c.79+9393_79+9394insCTGTCTTCCCTCTGCCTCCAGTGGCGCCGC ATGGGGCACGTGTCTTCCCTCTGCCTCCAGTGGCGCCGCAGGGGGCACGT GTCTTCCCTCTGCCTCCAGTGGCGCCGCAGGGGGCACGTGTCTTCCCTCT GCCTCCAGTGGCGCCGCAGGGGGCACGTGTCTTCCCTCTGCCTCCAGTGG CGCCGCACGGGGCAC	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
VPS53_chr17_503668_719839	505896	A A	AAGATCAG others(188): Show AAGATCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTAGAAGA GCATTGGTGACCTTCGAGAGCAGGGTCAGGACAGCGGTTGAGATGGAAGC TGACTTTCTAGAAGAGCATTGGTGACCTTCGAGAGCAGGGTCAGGACAGT GGTTGAGATGGAAGCTGACTTTCTAGAAGAGCATTGGTGACCTTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 NA20129.hp2 NA20300.hp1 HG01891.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0127 a0001c0001t0034 a0001c0001t0127	a0001c0001t0034g0153 a0001c0001t0034g0155 a0001c0001t0127g0154 a0001c0001t0034g0153 a0001c0001t0034g0155 a0001c0001t0127g0154	3	148	0.0203	195	c.13 others(208): Show c.13231_*13232insCGAAGGTCACCAATGCTCTTCTAGAAAGTCAG CTTCCATCTCAACCACTGTCCTGACCCTGCTCTCGAAGGTCACCAATGCT CTTCTAGAAAGTCAGCTTCCATCTCAACCGCTGTCCTGACCCTGCTCTCG AAGGTCACCAATGCTCTTCTAGAAAGTCAGCTTCCATCTCAACCGCTGTC CTGACCCTGATCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		2771		chr17	TogoVar
VPS53_chr17_503668_719839	548432	A A	AATCATCC others(188): Show AATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGA AATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAA ATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAT CATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0012 a0001c0001t0070g0012	1	230	0.0043	195	c.186 others(214): Show c.1866+3439_1866+3440insCCAGAAGGACTGTTGGCTGGCCAAAG TGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGT GGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTG GAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGG AGTGTAGTCATTGGATGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(188): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0023 a0003c0005t0001g0023	1	211	0.0047	195	c.200 others(212): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCC CCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(188): Show ATCATATATGATACATATATCATATATATCATATATGATACATATATCAT ATATGATACATATATATCATATATATGATACATGTATCATATATGATACA TATATATCATATATATGATACATATATATCATATATATGATACATATATA TCATATATATGATACATATATATCTCATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	135	0.0074	195	c.856 others(212): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATGATACATATATATCATATATATGATACATGTATCATATATGATA CATATATATCATATATATGATACATATATATCATATATATGATACATATA TATCATATATATGATACATATATATCTCATATATGATACATATATATCTC ATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATG others(188): Show CATATATGATACATATATCATATATATCATATATGATACATATATCATAT ATATGATACATATATCATATATATGATACATGTATCATATATGATACATA TATATCATATATATGATACATATGTATCATATATATGATACATATGTATC ATATATATGATACATATGTATCATATATATGATACATATGTATCAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0253 a0002c0002t0001g0253	1	236	0.0042	195	c.856 others(212): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATGATACATATATCATATATATGATACATGTATCATATATGATA CATATATATCATATATATGATACATATGTATCATATATATGATACATATG TATCATATATATGATACATATGTATCATATATATGATACATATGTATCAT ATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137198	A A	ATCATATA others(188): Show ATCATATATATCATATATGATACATATATCATATATATGATACATATATC ATATATATGATACATGTATCATATATGATACATATATATCATATATATGA TACATATGTATCATATATATGATACATATGTATCATATATATGATACATA TGTATCATATATATGATACATATGTATCATATATATGATACATATG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0254 a0002c0002t0002g0254	1	326	0.0031	195	c.856 others(212): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATGATACATATATCATATATATGATACATGTATCATATATGATA CATATATATCATATATATGATACATATGTATCATATATATGATACATATG TATCATATATATGATACATATGTATCATATATATGATACATATGTATCAT ATATATGATACATATGT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR64_chr1_241647281_241807777	241674903	C C	CTTTCCTC others(188): Show CTTTCCTCCCTTTCTCCCTCCCTCTCTTCCTTCCTTTCTTCTTCCTTCCC TCCCTCCTTCTTCTTTCCTTCCTTTTCTCCCTTCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19009.hp1 NA18980.hp2 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0043 a0001c0002t0002g0045	2	322	0.0062	195	c.483 others(210): Show c.483+156_483+157insTTTCCTCCCTTTCTCCCTCCCTCTCTTCCT TCCTTTCTTCTTCCTTCCCTCCCTCCTTCTTCTTTCCTTCCTTTTCTCCC TTCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
XKR6_chr8_10891045_11206833	11033265	A A	ATGATGGC others(188): Show ATGATGGCGATGATGACGATAGTGATGGTGATGGTGGTGGTGATGATGAT GATGACGATAGTGATGGTGATGGTGGTGGTGATGATGATGATGACGATAG TGATGGTGATGGTGGTGGTGATGGCGATGATGACGATAGTGATGGTGATG GTGGTGGTGATGATGATGATGACGATAGTGATGGTGATGGTGGTGG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0178 a0001c0001t0017g0178	1	175	0.0057	195	c.765 others(216): Show c.765-108436_765-108435insCCACCACCATCACCATCACTATCG TCATCATCATCATCACCACCACCATCACCATCACTATCGTCATCATCGCC ATCACCACCACCATCACCATCACTATCGTCATCATCATCATCACCACCAC CATCACCATCACTATCGTCATCATCATCATCACCACCACCATCACCATCA CTATCGTCATCATCGCCATCA	XKR6	ENSG00000171044.11	transcript	ENST00000416569.3	protein_coding	1/2			chr8	TogoVar
ZBTB20_chr3_114309500_115152288	114753324	C C	CATTATAT others(188): Show CATTATATATAATGTATATATAATGTATATATGTATACATTATATATAAT GTATATATAATGTATATATGTATACATTATATATAATGTATATATAATGT ATATATGTATACATTATATATAATGTATATATAATGTATATATGTATACA TTATATATAATGTATATATAATGTATATATGTATACATTATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03540.hp2 NA19030.hp1 HG03130.hp1 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0028 a0001c0001t0038 a0001c0001t0005 a0001c0001t0028 a0001c0001t0038	a0001c0001t0005g0030 a0001c0001t0028g0023 a0001c0001t0038g0019 a0001c0001t0005g0030 a0001c0001t0028g0023 a0001c0001t0038g0019	3	29	0.1034	195	c.-34 others(216): Show c.-343+47776_-343+47777insTATATATAATGTATACATATATAC ATTATATATACATTATATATAATGTATACATATATACATTATATATACAT TATATATAATGTATACATATATACATTATATATACATTATATATAATGTA TACATATATACATTATATATACATTATATATAATGTATACATATATACAT TATATATACATTATATATAAT	ZBTB20	ENSG00000181722.18	transcript	ENST00000675478.1	protein_coding	5/11			chr3	TogoVar
ZFP42_chr4_187990771_188010046	187992046	G G	GGGGAGAG others(188): Show GGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGG AGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGA CCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18962.hp2 NA18968.hp1 others(1): Show NA18952.hp2 NA18962.hp2 NA18968.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0014 a0001c0001t0001g0036	4	128	0.0313	195	c.-41 others(206): Show c.-4133_-4132insGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAG ACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTG GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGG AGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGG GGAGAGGGAGA	ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding		3724		chr4	TogoVar
ZFPM1_chr16_88448280_88542031	88461152	A A	AGGGGCGG others(188): Show AGGGGCGGGAGGCCTGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTG AGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTG GTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGT CTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0103 a0003c0003t0006g0103	1	182	0.0055	195	c.40+ others(210): Show c.40+7484_40+7485insGCCTGGTGATGACCGAGGGGTGGGGCGGGA GGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCA GAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGG GCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCA GGGATGGGGCGGGAG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFPM1_chr16_88448280_88542031	88501580	G G	GCGGGGCC others(188): Show GCGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGT GCGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGT GCGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGT GCATGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0080 a0001c0080	a0001c0080t0004 a0001c0080t0004	a0001c0080t0004g0199 a0001c0080t0004g0199	1	248	0.0040	195	c.268 others(214): Show c.268+12427_268+12428insCGGGGCCCTCCCGCAGGTGCTGGTGA TGATGGAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGA TGATGGAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGA TGATGGAGATAGCGGGTGTGGGTGCATGGGCTCTCCCGCAGGTGCTGGTG ATGATGGAGATAGCAGACA	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9			chr16	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(188): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGG GGAGGGGAGGGAAGGAGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAGG GGAGGGCAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02523.hp1 HG02165.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0133 a0001c0001t0006g0192 a0001c0001t0002g0133 a0001c0001t0006g0192	2	5	0.4000	195	c.103 others(214): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCTGCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTAC CCTCTCCTTCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCC CCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTCCCCTCCCCTCCCCTCT CCTCCCCTCCCCTCCCCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(188): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGG GGAGGGGAGGGAAGGAGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAGG GGAGGGGAGGAAAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0014	1	4	0.2500	195	c.103 others(214): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTTTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTAC CCTCTCCTTCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCC CCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTCCCCTCCCCTCCCCTCT CCTCCCCTCCCCTCCCCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(188): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGG GGAGGGGAGGGAAGGAGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(40): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00597.hp2 HG00673.hp2 HG01074.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp2 HG02165.hp2 HG02280.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG03688.hp2 HG03831.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18977.hp2 NA18979.hp2 NA18998.hp2 NA19060.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0002t0013	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 others(40): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0142 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0002g0040 a0001c0001t0002g0049 a0001c0001t0002g0109 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0137 a0001c0001t0002g0227 a0001c0001t0003g0077 a0001c0001t0003g0124 a0001c0001t0003g0139 a0001c0001t0003g0206 a0001c0001t0004g0048 a0001c0001t0004g0054 a0001c0001t0005g0086 a0002c0002t0013g0076	43	46	0.9348	195	c.103 others(214): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTAC CCTCTCCTTCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCC CCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTCCCCTCCCCTCCCCTCT CCTCCCCTCCCCTCCCCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZNF512B_chr20_63951704_63974930	63970941	T T	TCCTTCCT others(188): Show TCCTTCCTTCCTTTTCTCTTTCCTTCTCTTCTCTTCCCTCCCTCCCTACC TCCCTCCCTTCTCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCTTCCTTCC TTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCC CTCCCTCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0003	1	299	0.0033	195	c.-11 others(206): Show c.-1131_-1130insGAGGAAGGTAAGGGAAGGAAGAGAAGGAAGGGAG GAAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAA GAAGGAAGGAAAGGAAGGAAGAAGGGAGGGAGGGAGGGAAGGGAAGGAAG AGAAGGGAGGGAGGTAGGGAGGGAGGGAAGAGAAGAGAAGGAAAGAGAAA AGGAAGGAAGG	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding		1012		chr20	TogoVar
ZNF512B_chr20_63951704_63974930	63970941	T T	TCCTTCCT others(188): Show TCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCC TCCCTTCCTTCTCTTCCTTCCCTTCCCTTCCTCCCTCCCTTCTTCCTTCC TTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCC CTCCCTCCCTACCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01099.hp2 others(4): Show HG00280.hp2 HG00738.hp1 HG01099.hp2 HG01169.hp2 HG01346.hp1 HG02723.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0003t0018 a0001c0001t0001 a0001c0003t0002 a0001c0003t0018	a0001c0001t0001g0001 a0001c0003t0002g0007 a0001c0003t0018g0059 a0001c0001t0001g0001 a0001c0003t0002g0007 a0001c0003t0018g0059	7	305	0.0230	195	c.-11 others(206): Show c.-1131_-1130insGAGGAAGGTAAGGGAAGGAAGAGAAGGAAGGGAG GTAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAA GAAGGAAGGAAAGGAAGGAAGAAGGGAGGGAGGAAGGGAAGGGAAGGAAG AGAAGGAAGGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGA GAAAAGGAAGG	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding		1012		chr20	TogoVar
ZNF512B_chr20_63951704_63974930	63970945	T T	TCCTTCCT others(188): Show TCCTTCCTTTTCTCTTTCCTTCTCTTCTCTTCCCTCCCTCCCTACCTCCC TTCCTTCTCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCTTCCTTCCTTTC CTTCCTTCTTCCTTCCTTCCTTTTCTCTTTCCTTCTCTTCTCTTCCCTCC CTCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0024 a0001c0002t0003g0024	1	342	0.0029	195	c.-11 others(206): Show c.-1135_-1134insGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAAG GGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAAGAGAAAAGGAAGGAA GGAAGAAGGAAGGAAAGGAAGGAAGAAGGGAGGGAGGGAGGGAAGGGAAG GAAGAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAAGAGAAGGAAAGA GAAAAGGAAGG	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding		1016		chr20	TogoVar
ZNF618_chr9_113871309_114061593	113900985	C C	CCGCAAAC others(188): Show CCGCAAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCCCGCAAACCCG ACCTCCTGTCTCCTAGCACCGTCCTCTCGCGCTAACCCGACCTCCTGTCT CCTAGCACCGTCCTCTCCCGCAAACCCGACCTCCTGTCTCCTAGCACCGT CCTCTCGCGCAAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0105 a0001c0024t0105	a0001c0024t0105g0004 a0001c0024t0105g0004	1	224	0.0045	195	c.33+ others(212): Show c.33+24610_33+24611insCCGCAAACCCGACCTCCTGTCTCCTAGC ACCGTCCTCTCGCGCTAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTC CCGCAAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCGCGCAAACCCG ACCTCCTGTCTCCTAGCACCGTCCTCTCGCGCAAACCCGACCTCCTGTCT CCTAGCACCGTCCTCTC	ZNF618	ENSG00000157657.15	transcript	ENST00000374126.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ACAP3_chr1_1287391_1312930	1288569	C C	CCGTGTCT others(189): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTGC TCCATTCCCTGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGA GTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	268	0.0037	196	c.49 others(207): Show c.4994_*4995insACGGAGCAGGGACACGGGACGGAGCAGACACGGG ACGGAGCAGAGACTCGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACAGGGAATGGAGCAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3821		chr1	TogoVar
ACTN2_chr1_236681499_236769631	236755771	A A	AATAGAGT others(189): Show AATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTA ATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTTA TAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAAT AGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0026 a0001c0028t0026	a0001c0028t0026g0107 a0001c0028t0026g0107	1	148	0.0068	196	c.215 others(213): Show c.2154+606_2154+607insCGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATATAC TGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACT GCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTG CAGAGTGCCCGCTGCCAC	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756442	C C	CGTTAGAA others(189): Show CGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACT GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTG TTAGAACGCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGT TAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCTGCTGCCACT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	271	0.0037	196	c.215 others(215): Show c.2155-1044_2155-1043insGTTAGAACCCTGGTAATAGAGTATAT ACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGTGCCCGCTGCCACTGTTAGAACGCTGGTAATAGAGTATATAC TGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACT GCAGAGTGCCTGCTGCCACT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20			chr1	TogoVar
ADAMTS19_chr5_129455298_129743683	129549914	G G	GTATCTAG others(189): Show GTATCTAGATATACATATACATGTATATGTATATCTAGATATACATATAC ATGTATATGTATATCTAGATATACATATACATGTATATGTATATCTAGAT ATACATATACATGTATCTGTATATGTATGTATCTAGATATACATATACAT GTATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGTA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01496.hp1 others(1): Show HG01167.hp1 HG01169.hp1 HG01496.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0224 others(1): Show a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0224 a0001c0001t0002g0225	4	129	0.0310	196	c.132 others(215): Show c.1329-1947_1329-1946insCTAGATATACATATACATGTATATGT ATATCTAGATATACATATACATGTATATGTATATCTAGATATACATATAC ATGTATATGTATATCTAGATATACATATACATGTATCTGTATATGTATGT ATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATATAC ATATACATGTATCTGTATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCK5_chr8_144369047_144398242	144398167	A A	AGGGCCCA others(189): Show AGGGCCCAACCACCTCCCCGCCACCGTCCCCACCCACCTACCTCCTTCCA GCAGGCGGATGCCCAGGGCCCAACCACCTCCCCCCCACCGTCCCCACCCA CCTACCTCCTTCCAGCAGGCGGATGCCCAGGGCCCAACCACCTCCCCACC ACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATGCCCAGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	200	0.0050	196	c.50 others(207): Show c.5093_*5094insGGGCCCAACCACCTCCCCGCCACCGTCCCCACCC ACCTACCTCCTTCCAGCAGGCGGATGCCCAGGGCCCAACCACCTCCCCCC CACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATGCCCAGGGCCC AACCACCTCCCCACCACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCG GATGCCCAGGGC	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding		4926		chr8	TogoVar
ADGRE3_chr19_14614117_14679844	14620388	A A	ACATGTAT others(189): Show ACATGTATATATGAATATATATGTATATTCATGTATATATGAATATATAT GTATATTCATGTATATATGAATATATATGTATATTCATGTATATATGAAT ATATATGTATATTCATGTATATATGAATATATATGTATATTCATGTATAT ATGAATATATATGTATATTCATGTATATATGAATATATATGTATATT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03041.hp1 HG03471.hp2 others(2): Show HG01074.hp1 HG03041.hp1 HG03471.hp2 HG03688.hp2 HG03927.hp1	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0001 a0001c0006 a0002c0003 others(1): Show a0001c0001 a0001c0006 a0002c0003 a0019c0029	a0001c0001t0001 a0001c0006t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0002c0003t0001 a0019c0029t0001	a0001c0001t0001g0091 a0001c0001t0001g0125 a0001c0006t0001g0065 others(2): Show a0001c0001t0001g0091 a0001c0001t0001g0125 a0001c0006t0001g0065 a0002c0003t0001g0369 a0019c0029t0001g0017	5	112	0.0446	196	c.192 others(213): Show c.1921-918_1921-917insAATATACATATATATTCATATATACATG AATATACATATATATTCATATATACATGAATATACATATATATTCATATA TACATGAATATACATATATATTCATATATACATGAATATACATATATATT CATATATACATGAATATACATATATATTCATATATACATGAATATACATA TATATTCATATATACATG	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
AHRR_chr5_316714_443285	376503	G G	GTGAGAAC others(189): Show GTGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA TGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAAT GAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATG AGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp1 HG01167.hp2 others(17): Show HG00099.hp2 HG01106.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01358.hp2 HG02015.hp2 HG02074.hp2 HG02602.hp2 HG02698.hp1 HG04204.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18970.hp2 NA18982.hp2 NA19012.hp2 NA19083.hp1 NA19085.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0016	a0001c0001 a0002c0002 a0008c0016 others(1): Show a0001c0001 a0002c0002 a0008c0016 a0016c0022	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(5): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0006 a0002c0002t0011 a0002c0002t0048 a0008c0016t0014 a0016c0022t0001	a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0178 others(17): Show a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0178 a0001c0001t0002g0184 a0001c0001t0003g0199 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0003g0215 a0002c0002t0001g0010 a0002c0002t0001g0121 a0002c0002t0001g0167 a0002c0002t0001g0200 a0002c0002t0006g0007 a0002c0002t0006g0020 a0002c0002t0006g0047 a0002c0002t0006g0120 a0002c0002t0011g0214 a0002c0002t0048g0160 a0008c0016t0014g0189 a0016c0022t0001g0023	20	83	0.2410	196	c.245 others(209): Show c.245-58_245-57insTGAGAACCGTGGGGTGAACGCGGGGAAACACA GGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAG GAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGG AAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGA AAGATGTGAATGAA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	376527	G G	GGAAACAC others(189): Show GGAAACACAGGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGG GAAACACAGGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGG AAACACAGGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGAGA AACACAGGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0261 a0001c0001t0060g0261	1	261	0.0038	196	c.245 others(209): Show c.245-58_245-57insTGAGAACCGTGGGGTGAACGCGGGGAAACACA GGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAG GAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAGG AAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAGGA AAGATGTGAATGAA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391336	G G	GAGGAGGG others(189): Show GAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCG ATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGA GGCGGGTGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAG GAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03195.hp2 HG03130.hp1 HG03195.hp2	a0004 a0007 a0004 a0007	a0004c0003 a0007c0007 a0004c0003 a0007c0007	a0004c0003t0007 a0007c0007t0007 a0004c0003t0007 a0007c0007t0007	a0004c0003t0007g0237 a0007c0007t0007g0238 a0004c0003t0007g0237 a0007c0007t0007g0238	2	266	0.0075	196	c.351 others(215): Show c.351+14623_351+14624insAGGGCGCAGGGCGAGGCAGGGCCAGA GCGTGCACGGACACAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAG CGTGCACGGGCGCAGGGCGAGGCGGGTGCAGGGCGAGGCAGGGCCAGAGC GTGCACGGACACAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCG TGCACGGGCGCAGGGCAAGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar

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