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
AURKB_chr17_8199734_8215575	8214607	T T	TATATACA others(7): Show TATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	213	0.0047	14	c.-41 others(25): Show c.-4104_-4103insGTGTGTGTGTATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(7): Show TATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0073 a0005c0007t0001g0073	1	213	0.0047	14	c.-41 others(25): Show c.-4104_-4103insGTGTGTGTATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(7): Show TATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	213	0.0047	14	c.-41 others(25): Show c.-4104_-4103insGTGTATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKC_chr19_57226023_57240548	57239587	T T	TAGAGAGA others(7): Show TAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03225.hp2 NA18998.hp1 HG03098.hp1 HG03225.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0001t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0003g0037 a0001c0004t0001g0015 a0001c0001t0001g0001 a0001c0001t0003g0037 a0001c0004t0001g0015	3	89	0.0337	14	c.41 others(25): Show c.4170_*4171insAGAGAGAGAGAGAG	AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding		4040		chr19	TogoVar
AUTS2_chr7_69593475_70798506	69870447	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG02647.hp2 others(6): Show HG01081.hp2 HG02055.hp2 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03139.hp2 HG03540.hp2 HG04199.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 others(4): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0001t0032 a0001c0001t0035 a0001c0003t0027 a0002c0002t0031	a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0009g0006 others(6): Show a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0028g0021 a0001c0001t0032g0016 a0001c0001t0035g0019 a0001c0003t0027g0009 a0002c0002t0031g0007	9	67	0.1343	14	c.310 others(33): Show c.310-28839_310-28838insTATATATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18			chr7	TogoVar
AUTS2_chr7_69593475_70798506	69870448	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG02165.hp2 others(1): Show HG00280.hp1 HG00597.hp1 HG02165.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 a0001c0001t0001 a0001c0001t0003 a0001c0001t0022	a0001c0001t0001g0034 a0001c0001t0001g0071 a0001c0001t0003g0068 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0071 a0001c0001t0003g0068 a0001c0001t0022g0031	4	22	0.1818	14	c.310 others(33): Show c.310-28833_310-28820dupATATATATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69872834	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp2 HG02717.hp2 others(1): Show HG01081.hp2 HG01175.hp2 HG02717.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0029 a0001c0001t0032 others(1): Show a0001c0001t0005 a0001c0001t0029 a0001c0001t0032 a0001c0003t0027	a0001c0001t0005g0015 a0001c0001t0029g0022 a0001c0001t0032g0016 others(1): Show a0001c0001t0005g0015 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0003t0027g0009	4	27	0.1481	14	c.310 others(33): Show c.310-26439_310-26426dupTTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69876349	A A	AAAAAAAA others(7): Show AAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	40	0.0250	14	c.310 others(33): Show c.310-22936_310-22935insAAAAAATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69876349	A A	AAAATATA others(7): Show AAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	40	0.0250	14	c.310 others(33): Show c.310-22936_310-22935insAATATATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69888540	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01952.hp2 others(5): Show HG00099.hp2 HG01081.hp2 HG01952.hp2 HG02647.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0005 a0001c0001t0009 a0001c0001t0034 others(3): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0034 a0001c0001t0035 a0001c0003t0027 a0001c0005t0030	a0001c0001t0005g0005 a0001c0001t0005g0015 a0001c0001t0005g0020 others(5): Show a0001c0001t0005g0005 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0009g0023 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0027g0009 a0001c0005t0030g0013	8	18	0.4444	14	c.310 others(33): Show c.310-10727_310-10714dupATATATATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69914356	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0019 a0001c0001t0035g0019	1	10	0.1000	14	c.522 others(33): Show c.522+14884_522+14897dupCACACACACACACA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69978859	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01934.hp1 NA20752.hp2 HG00280.hp2 HG01934.hp1 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0004 a0001c0001t0021 a0005c0009t0001 a0001c0001t0004 a0001c0001t0021 a0005c0009t0001	a0001c0001t0004g0042 a0001c0001t0021g0060 a0005c0009t0001g0043 a0001c0001t0004g0042 a0001c0001t0021g0060 a0005c0009t0001g0043	3	9	0.3333	14	c.522 others(33): Show c.522+79390_522+79403dupACACACACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69996946	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG03579.hp1 HG02622.hp1 HG02647.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0034 a0001c0001t0035 a0002c0010t0033 a0001c0001t0034 a0001c0001t0035 a0002c0010t0033	a0001c0001t0034g0018 a0001c0001t0035g0019 a0002c0010t0033g0014 a0001c0001t0034g0018 a0001c0001t0035g0019 a0002c0010t0033g0014	3	29	0.1034	14	c.522 others(33): Show c.522+97453_522+97466dupAAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70053544	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp1 HG03225.hp1 others(1): Show HG02258.hp1 HG03041.hp1 HG03225.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002	a0001c0001t0018 a0001c0003t0008 a0001c0005t0030 others(1): Show a0001c0001t0018 a0001c0003t0008 a0001c0005t0030 a0002c0002t0036	a0001c0001t0018g0001 a0001c0003t0008g0039 a0001c0005t0030g0013 others(1): Show a0001c0001t0018g0001 a0001c0003t0008g0039 a0001c0005t0030g0013 a0002c0002t0036g0017	4	31	0.1290	14	c.523 others(33): Show c.523-64576_523-64575insTTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70245169	T T	TATATATA others(7): Show TATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0027 a0001c0007t0006g0027	1	50	0.0200	14	c.660 others(35): Show c.660+110599_660+110600insTATATATATATAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70303434	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	36	0.0278	14	c.661 others(35): Show c.661-132314_661-132313insCACACACACACACA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70303434	G G	GCGCACAC others(7): Show GCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03579.hp1 HG02622.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0034 a0002c0010t0033 a0001c0001t0034 a0002c0010t0033	a0001c0001t0034g0018 a0002c0010t0033g0014 a0001c0001t0034g0018 a0002c0010t0033g0014	2	37	0.0541	14	c.661 others(35): Show c.661-132317_661-132316insGCACACACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70303434	G G	GCGCGCGC others(7): Show GCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	36	0.0278	14	c.661 others(35): Show c.661-132317_661-132316insGCGCGCACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70340163	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02165.hp2 HG02258.hp2 others(12): Show HG01175.hp2 HG02165.hp2 HG02258.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG03017.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG04199.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0002c0002t0024 a0002c0002t0036 a0002c0010t0033	a0001c0001t0001g0073 a0001c0001t0003g0072 a0001c0001t0005g0020 others(12): Show a0001c0001t0001g0073 a0001c0001t0003g0072 a0001c0001t0005g0020 a0001c0001t0015g0002 a0001c0001t0016g0003 a0001c0001t0019g0076 a0001c0001t0022g0031 a0001c0001t0023g0075 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0002c0002t0024g0059 a0002c0002t0036g0017 a0002c0010t0033g0014	15	49	0.3061	14	c.661 others(33): Show c.661-95570_661-95557dupACACACACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70377325	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp2 HG02615.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0014 a0001c0003t0008 a0001c0001t0014 a0001c0003t0008	a0001c0001t0014g0070 a0001c0003t0008g0069 a0001c0001t0014g0070 a0001c0003t0008g0069	2	13	0.1538	14	c.661 others(33): Show c.661-58391_661-58378dupTATATATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70444373	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0050 a0001c0001t0025g0050	1	44	0.0227	14	c.690 others(31): Show c.690+8593_690+8594insTGTGTGTGTGAGAG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01884.hp1 others(5): Show HG00099.hp2 HG00280.hp1 HG01884.hp1 HG01934.hp1 HG02647.hp2 HG03239.hp1 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0035	a0001c0001t0003g0035 a0001c0001t0003g0068 a0001c0001t0004g0042 others(5): Show a0001c0001t0003g0035 a0001c0001t0003g0068 a0001c0001t0004g0042 a0001c0001t0006g0038 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0035g0019	8	15	0.5333	14	c.691 others(35): Show c.691-119320_691-119307dupAAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70721279	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01884.hp1 others(4): Show HG00280.hp1 HG00597.hp1 HG01884.hp1 HG01934.hp2 HG02630.hp2 HG03041.hp1 NA18612.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0003c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0003t0008 a0001c0005t0030 a0003c0011t0007	a0001c0001t0001g0034 a0001c0001t0001g0071 a0001c0001t0003g0068 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0071 a0001c0001t0003g0068 a0001c0001t0006g0038 a0001c0003t0008g0069 a0001c0005t0030g0013 a0003c0011t0007g0004	7	24	0.2917	14	c.742 others(33): Show c.742+22680_742+22693dupGTGTGTGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33871774	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19056.hp2 HG02572.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0102 a0001c0001t0002g0248 a0001c0001t0001g0102 a0001c0001t0002g0248	2	167	0.0120	14	c.517 others(29): Show c.517-758_517-745dupTTTTTTTTTTTTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	3/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	6	0.1667	14	c.446 others(33): Show c.446-23479_446-23466dupAAAAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33904706	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	259	0.0039	14	c.446 others(33): Show c.446-28712_446-28711insGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33904708	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG00741.hp1 others(16): Show HG00099.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01433.hp2 HG02056.hp1 HG02109.hp2 HG02300.hp1 HG02602.hp2 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 NA18969.hp1 NA19060.hp1 NA19064.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0012 a0003c0003 a0001c0001 a0001c0012 a0003c0003	a0001c0001t0001 a0001c0012t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0012t0001 a0003c0003t0001 a0003c0003t0003	a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0155 others(16): Show a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0251 a0001c0012t0001g0064 a0003c0003t0001g0262 a0003c0003t0003g0007	19	134	0.1418	14	c.446 others(33): Show c.446-28714_446-28713insGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33904710	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02015.hp1 HG02132.hp1 others(14): Show HG00597.hp1 HG02015.hp1 HG02132.hp1 HG02280.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 NA18612.hp2 NA18980.hp1 NA18981.hp2 NA19007.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0055 a0001c0001t0001g0086 a0001c0001t0001g0088 others(14): Show a0001c0001t0001g0055 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0235 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0182 a0001c0001t0002g0229 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0093	17	79	0.2152	14	c.446 others(33): Show c.446-28716_446-28715insGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933491	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01346.hp1 HG01433.hp1 others(3): Show HG01169.hp1 HG01346.hp1 HG01433.hp1 HG02647.hp1 HG02723.hp2 NA18960.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0003c0003t0003	a0001c0001t0001g0062 a0001c0001t0001g0179 a0001c0001t0004g0043 others(3): Show a0001c0001t0001g0062 a0001c0001t0001g0179 a0001c0001t0004g0043 a0001c0001t0004g0050 a0002c0002t0001g0232 a0003c0003t0003g0006	6	225	0.0267	14	c.446 others(33): Show c.446-57510_446-57497dupTGTGTGTGTGTGTG	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(7): Show CACACACACACAGAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	188	0.0053	14	c.446 others(33): Show c.446-57530_446-57529insCTCTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(7): Show CACACACAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0245 a0002c0002t0001g0245	1	188	0.0053	14	c.446 others(33): Show c.446-57530_446-57529insCTCTCTCTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33983140	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	261	0.0038	14	c.445 others(33): Show c.445+19891_445+19892insTACACACACACACA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33983164	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0021 a0007c0010t0001g0021	1	263	0.0038	14	c.445 others(33): Show c.445+19867_445+19868insTACACACACACACA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVIL_chr12_57792380_57823734	57818182	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19083.hp1 NA19078.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0074 a0001c0001t0001g0075	2	23	0.0870	14	c.-20 others(29): Show c.-20+433_-20+446dupAAAAAAAAAAAAAA	AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	1/19			chr12	TogoVar
AVL9_chr7_32490489_32593726	32503319	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0065 a0001c0004t0065	a0001c0004t0065g0121 a0001c0004t0065g0121	1	312	0.0032	14	c.93+ others(29): Show c.93+7518_93+7531dupATATATATATATAT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32503365	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG04184.hp1 HG01433.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0088 a0001c0001t0023 a0001c0001t0088	a0001c0001t0023g0110 a0001c0001t0088g0279 a0001c0001t0023g0110 a0001c0001t0088g0279	2	223	0.0090	14	c.93+ others(29): Show c.93+7564_93+7565insCACACACACACACA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32503367	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02258.hp1 NA19075.hp2 HG00099.hp2 HG02258.hp1 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0040 a0001c0001t0071 a0002c0005t0021 a0001c0001t0040 a0001c0001t0071 a0002c0005t0021	a0001c0001t0040g0253 a0001c0001t0071g0252 a0002c0005t0021g0314 a0001c0001t0040g0253 a0001c0001t0071g0252 a0002c0005t0021g0314	3	97	0.0309	14	c.93+ others(29): Show c.93+7566_93+7567insCACACACACACACA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32551605	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02895.hp1 HG03540.hp2 HG01106.hp2 HG02895.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0022 a0001c0008t0094 a0001c0008t0095 a0001c0001t0022 a0001c0008t0094 a0001c0008t0095	a0001c0001t0022g0290 a0001c0008t0094g0054 a0001c0008t0095g0055 a0001c0001t0022g0290 a0001c0008t0094g0054 a0001c0008t0095g0055	3	58	0.0517	14	c.462 others(29): Show c.462+188_462+201dupTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32572801	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01074.hp2 HG01192.hp2 others(15): Show HG00621.hp2 HG01074.hp2 HG01192.hp2 HG01433.hp2 HG02080.hp2 HG02145.hp2 HG02257.hp2 HG02738.hp2 HG03516.hp1 HG04115.hp1 HG04228.hp2 NA18984.hp2 NA19005.hp2 NA19057.hp1 NA19063.hp2 NA19077.hp1 NA19082.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0015 a0001c0004t0025 a0001c0004t0065 others(11): Show a0001c0004t0015 a0001c0004t0025 a0001c0004t0065 a0001c0004t0092 a0002c0003t0005 a0002c0003t0009 a0002c0003t0012 a0002c0003t0024 a0002c0003t0027 a0002c0003t0061 a0002c0003t0064 a0002c0003t0083 a0002c0003t0091 a0002c0003t0106	a0001c0004t0015g0118 a0001c0004t0015g0122 a0001c0004t0025g0166 others(15): Show a0001c0004t0015g0118 a0001c0004t0015g0122 a0001c0004t0025g0166 a0001c0004t0065g0121 a0001c0004t0092g0153 a0002c0003t0005g0135 a0002c0003t0005g0138 a0002c0003t0005g0147 a0002c0003t0005g0151 a0002c0003t0009g0169 a0002c0003t0012g0130 a0002c0003t0024g0164 a0002c0003t0027g0117 a0002c0003t0061g0163 a0002c0003t0064g0136 a0002c0003t0083g0131 a0002c0003t0091g0165 a0002c0003t0106g0021	18	72	0.2500	14	c.135 others(31): Show c.1351-395_1351-382dupAAAAAAAAAAAAAA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579583	A A	ATGTATAT others(7): Show ATGTATATAATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0137 a0002c0003t0009g0137	1	322	0.0031	14	c.168 others(31): Show c.1689-635_1689-634insGTATATAATATATT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03654.hp1 NA18522.hp1 others(2): Show HG02559.hp1 HG03654.hp1 NA18522.hp1 NA18963.hp2 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0102 a0002c0002t0001g0017 a0002c0002t0002g0001 others(2): Show a0001c0001t0001g0102 a0002c0002t0001g0017 a0002c0002t0002g0001 a0002c0002t0002g0074 a0002c0002t0002g0076	5	175	0.0286	14	c.287 others(29): Show c.287+725_287+738dupACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPI1_chr10_97672424_97692241	97678940	T T	TGGCGGGG others(7): Show TGGCGGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	399	0.0025	14	c.287 others(29): Show c.287+678_287+679insCCCCTCCCCCCGCC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPR1A_chr12_63137759_63156201	63151507	C C	CCGGCGTC others(7): Show CCGGCGTCCACGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02970.hp2 others(1): Show HG02647.hp1 HG02895.hp1 HG02970.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0019 a0001c0002t0012g0019	4	446	0.0090	14	c.-67 others(23): Show c.-672_-671insATGCGTGGACGCCG	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		307		chr12	TogoVar
AXDND1_chr1_179360971_179559735	179488643	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01515.hp1 HG02109.hp1 others(3): Show HG01433.hp1 HG01515.hp1 HG02109.hp1 HG02132.hp2 HG02630.hp2 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0001 a0001c0015t0001 a0001c0003t0001 a0001c0015t0001	a0001c0003t0001g0268 a0001c0003t0001g0276 a0001c0003t0001g0284 others(3): Show a0001c0003t0001g0268 a0001c0003t0001g0276 a0001c0003t0001g0284 a0001c0015t0001g0274 a0001c0015t0001g0275 a0001c0015t0001g0285	6	349	0.0172	14	c.209 others(33): Show c.2092-2893_2092-2880dupTTCTTTCTTTCTTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	320743	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0222 a0001c0003t0012g0222	1	108	0.0093	14	c.879 others(31): Show c.879-6061_879-6060insAATATATATATATA	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AXIN1_chr16_282440_357723	323776	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0048 a0001c0017t0048	a0001c0017t0048g0228 a0001c0017t0048g0228	1	221	0.0045	14	c.879 others(31): Show c.879-9107_879-9094dupTGTGTGTGTGTGTG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AXIN2_chr17_65523563_65566648	65538667	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02132.hp1 HG02486.hp2 others(1): Show HG01517.hp1 HG02132.hp1 HG02486.hp2 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0007 a0001c0002 a0001c0005 a0002c0007	a0001c0002t0001 a0001c0002t0007 a0001c0005t0001 others(1): Show a0001c0002t0001 a0001c0002t0007 a0001c0005t0001 a0002c0007t0001	a0001c0002t0001g0093 a0001c0002t0007g0194 a0001c0005t0001g0187 others(1): Show a0001c0002t0001g0093 a0001c0002t0007g0194 a0001c0005t0001g0187 a0002c0007t0001g0164	4	20	0.2000	14	c.106 others(31): Show c.1060-338_1060-325dupTTTTTTTTTTTTTT	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	4/10			chr17	TogoVar
AXL_chr19_41214223_41266766	41218778	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02809.hp2 HG02922.hp2 others(2): Show HG02258.hp2 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0034 a0001c0001t0008 a0001c0001t0034	a0001c0001t0008g0004 a0001c0001t0008g0008 a0001c0001t0034g0034 a0001c0001t0008g0004 a0001c0001t0008g0008 a0001c0001t0034g0034	5	296	0.0169	14	c.-61 others(23): Show c.-615_-614insGTGTGTGTGTGTGT	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding		444		chr19	TogoVar
AXL_chr19_41214223_41266766	41218782	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03516.hp1 HG02055.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0023 a0001c0002t0009 a0001c0002t0023	a0001c0002t0009g0277 a0001c0002t0023g0278 a0001c0002t0009g0277 a0001c0002t0023g0278	2	187	0.0107	14	c.-61 others(23): Show c.-611_-610insGTGTGTGTGTGTGT	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding		440		chr19	TogoVar
AXL_chr19_41214223_41266766	41260298	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0006 a0001c0001t0053g0006	1	48	0.0208	14	c.41 others(23): Show c.412_*425dupTTTTTTTTTTTTTT	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	20/20	426	INFO_REALIGN_3_PRIME	chr19	TogoVar

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