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
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(19): Show ACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02976.hp1 NA18906.hp1 others(6): Show HG01261.hp2 HG02976.hp1 NA18906.hp1 NA18969.hp1 NA18993.hp1 NA19007.hp1 NA19010.hp1 NA19076.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0099 a0001c0001t0001g0156 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0099 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0194 a0001c0001t0001g0241 a0001c0001t0002g0342	9	211	0.0427	26	c.194 others(43): Show c.194-2298_194-2297insACACACACACACACACACACACACCC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS1_chr20_53938541_54075594	53954294	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0009 a0013c0016t0009	a0013c0016t0009g0259 a0013c0016t0009g0259	1	27	0.0370	26	c.155 others(43): Show c.1552-625_1552-600dupTCTCTCTCTCTCTCTCTCTCTCTCTC	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	11/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54041908	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03704.hp1 NA18955.hp1 others(2): Show HG03491.hp1 HG03704.hp1 NA18955.hp1 NA18983.hp1 NA19086.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0017 a0006c0006t0023 others(1): Show a0001c0001t0001 a0006c0006t0017 a0006c0006t0023 a0006c0006t0024	a0001c0001t0001g0151 a0006c0006t0017g0141 a0006c0006t0023g0174 others(2): Show a0001c0001t0001g0151 a0006c0006t0017g0141 a0006c0006t0023g0174 a0006c0006t0024g0043 a0006c0006t0024g0058	5	241	0.0207	26	c.143 others(45): Show c.143-12937_143-12936insTTTTTTTTTTTTTTTTTTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	61045823	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0024 a0003c0001t0001g0024	1	41	0.0244	26	c.202 others(45): Show c.2029+4933_2029+4958dupCTCTCTCTCTCTCTCTCTCTCTCTCT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045884	T T	TATATAAA others(19): Show TATATAAATATATATTTATATATATTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0074 a0002c0005t0002g0074	1	61	0.0164	26	c.202 others(45): Show c.2029+4992_2029+4993insATATAAATATATATTTATATATATTA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	61375246	G G	GTGTGCGC others(19): Show GTGTGCGCGCGCGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0051 a0002c0005t0001g0051	1	51	0.0196	26	c.259 others(45): Show c.2593+6756_2593+6757insCGCGCGCGCGCGCGCGCGCACATGTG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61375246	G G	GTGTGTGC others(19): Show GTGTGTGCGCGCGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	51	0.0196	26	c.259 others(45): Show c.2593+6758_2593+6759insCGCGCGCGCGCGCGCGCACATGTGTG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61375246	G G	GTGTGTGT others(19): Show GTGTGTGTGCGCGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19240.hp2 HG02486.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0002	a0001c0002t0001g0060 a0002c0003t0002g0039 a0001c0002t0001g0060 a0002c0003t0002g0039	2	52	0.0385	26	c.259 others(45): Show c.2593+6760_2593+6761insCGCGCGCGCGCGCGCACATGTGTGTG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61375246	G G	GTGTGTGT others(19): Show GTGTGTGTGTGCGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0004 a0002c0007t0001g0004	1	51	0.0196	26	c.259 others(45): Show c.2593+6761_2593+6762insGCGCGCGCGCGCGCACATGTGTGTGT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0149 a0001c0001t0010g0149	1	169	0.0059	26	c.280 others(43): Show c.280-5670_280-5669insATATATATATATTTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24936712	A A	ATCTCTCT others(19): Show ATCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG06807.hp2 HG02074.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0002g0259 a0001c0001t0001g0091 a0001c0001t0002g0259	2	124	0.0161	26	c.6+1 others(41): Show c.6+12214_6+12215insGAGAGAGAGAGAGAGAGAGAGAGAGA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/10			chr12	TogoVar
BCL11B_chr14_99164287_99277197	99199683	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	246	0.0041	26	c.641 others(45): Show c.641-23489_641-23488insGCGCGCGCGCGCACACACACACACAC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99217385	G G	GACACACA others(19): Show GACACACACACACATACAGACACACAC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19012.hp1 NA19004.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0271 a0001c0001t0001g0237 a0001c0001t0001g0271	2	181	0.0110	26	c.640 others(45): Show c.640+13959_640+13960insGTGTGTGTCTGTATGTGTGTGTGTGT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99217385	G G	GACACACA others(19): Show GACACACACACACATACAGACACAGAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0176 a0001c0002t0060g0176	1	180	0.0056	26	c.640 others(45): Show c.640+13959_640+13960insGTCTGTGTCTGTATGTGTGTGTGTGT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL2L10_chr15_52104263_52117775	52111173	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03041.hp2 NA19043.hp1 HG02717.hp2 HG03041.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0003 a0002c0002t0006	a0002c0002t0003g0045 a0002c0002t0006g0087 a0002c0002t0003g0045 a0002c0002t0006g0087	3	69	0.0435	26	c.489 others(43): Show c.489+1039_489+1064dupGTGTGTGTGTGTGTGTGTGTGTGTGT	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding	1/1			chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111169212	A A	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG03195.hp1 HG01167.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0188 a0001c0001t0016g0189 a0001c0001t0016g0188 a0001c0001t0016g0189	2	159	0.0126	26	c.49 others(37): Show c.4981_*4982insGTGTGTGTGTGTGTGTGTGTGTGTGT	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding		769		chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17715122	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0268	1	265	0.0038	26	c.601 others(45): Show c.601-11531_601-11506dupATATATATATATATATATATATATAT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17717380	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02922.hp1 others(6): Show HG02572.hp2 HG02630.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0013 a0001c0001 a0007c0013	a0001c0001t0003 a0007c0013t0003 a0001c0001t0003 a0007c0013t0003	a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0003g0031 others(6): Show a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0250 a0007c0013t0003g0028	9	219	0.0411	26	c.601 others(43): Show c.601-9291_601-9290insAAAAAAAAAAAAAAAAAAAAAAAAAA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L1_chr20_31659458_31727868	31667484	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03453.hp1 HG02015.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0087 a0001c0001t0001g0051 a0001c0001t0001g0087	2	42	0.0476	26	c.565 others(43): Show c.565-1424_565-1399dupACACACACACACACACACACACACAC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(19): Show GTTTTTTTTTTGTTTGTTTGTTTGTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 NA21309.hp1 HG02559.hp2 HG02622.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0063	3	69	0.0435	26	c.564 others(45): Show c.564+23762_564+23763insAAACAAACAAACAAACAAAAAAAAAA	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTGTTTGTTTGTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	67	0.0149	26	c.564 others(45): Show c.564+23762_564+23763insAAAACAAACAAACAAAAAAAAAAAAA	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTGTTTGTTTGTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01361.hp2 others(22): Show HG00741.hp1 HG01109.hp2 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02723.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0038 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0004g0041 a0001c0001t0004g0042	25	91	0.2747	26	c.564 others(45): Show c.564+23762_564+23763insAAACAAACAAACAAAAAAAAAAAAAA	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 NA19043.hp2 others(1): Show HG02145.hp1 HG02622.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0150 a0001c0001t0001g0151 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0159	4	70	0.0571	26	c.564 others(45): Show c.564+23762_564+23763insAAAAAAAAAAAAAAAAAAAAAAAAAA	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCO1_chr16_81233689_81296142	81235193	T T	TAAATAAA others(19): Show TAAATAAATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	386	0.0026	26	c.-37 others(37): Show c.-3716_-3715insAAATAAATATATATATATATATATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3495		chr16	TogoVar
BCO2_chr11_112170512_112223946	112192925	G G	GTTTTTTT others(19): Show GTTTTTTTTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	15	0.0667	26	c.294 others(41): Show c.294-540_294-539insGTTTTTTTTTTTTTTTTTTTTTTTTT	BCO2	ENSG00000197580.13	transcript	ENST00000357685.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
BCOR_chrX_40046251_40102958	40046524	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	251	0.0040	26	c.55 others(37): Show c.5584_*5585insCATATATATATATATATATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4726		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046528	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	247	0.0040	26	c.55 others(37): Show c.5580_*5581insCATATATATATATATATATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4722		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046544	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	251	0.0040	26	c.55 others(37): Show c.5564_*5565insCATATATATATATATATATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4706		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046552	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	238	0.0042	26	c.55 others(37): Show c.5556_*5557insCATATATATATATATATATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4698		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046554	A A	ATATGTAT others(19): Show ATATGTATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	235	0.0043	26	c.55 others(37): Show c.5554_*5555insCATATATATATATATATATATACATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4696		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046554	A A	ATGTATAT others(19): Show ATGTATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	235	0.0043	26	c.55 others(37): Show c.5554_*5555insCATATATATATATATATATATATACA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4696		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046594	A A	ATGTATAT others(19): Show ATGTATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0101 a0001c0004t0001g0101	1	242	0.0041	26	c.55 others(37): Show c.5514_*5515insCATATATATATATATATATATATACA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4656		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046600	G G	GTATATAT others(19): Show GTATATATATATATATATATGTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	150	0.0067	26	c.55 others(37): Show c.5508_*5509insTATATACATATATATATATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4650		chrX	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	181	0.0055	26	c.12 others(37): Show c.1270_*1295dupACACACACACACACACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH1_chr3_197504783_197560968	197549975	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0206 a0001c0001t0039g0206	1	178	0.0056	26	c.-43 others(43): Show c.-43-3490_-43-3489insTATATATATATATATATATATATATA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	2/7			chr3	TogoVar
BDP1_chr5_71450651_71572820	71506758	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0021 a0021	a0021c0035 a0021c0035	a0021c0035t0001 a0021c0035t0001	a0021c0035t0001g0124 a0021c0035t0001g0124	1	66	0.0152	26	c.237 others(45): Show c.2372+2030_2372+2031insATATATATATATATATATATATATAT	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	16/38		INFO_REALIGN_3_PRIME	chr5	TogoVar
BEAN1_chr16_66422295_66487833	66474622	G G	GAGGAGGA others(19): Show GAGGAGGAGGAAGGGAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	261	0.0038	26	c.290 others(43): Show c.290-2935_290-2934insAGGAGGAAGGGAGGAAGGGAGGAAGG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BFSP2_chr3_133395056_133480208	133424214	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp2 HG01081.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0266 a0001c0001t0001g0036 a0001c0001t0001g0266	2	270	0.0074	26	c.490 others(45): Show c.490-23102_490-23101insGTGTGTGTGTGTGTGTGTGTGTGTGT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BHLHA9_chr17_1265444_1276815	1272641	A A	AGGCTCAC others(19): Show AGGCTCACCTCTACAGTTAAAAGTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	440	0.0023	26	c.13 others(37): Show c.1370_*1371insGGCTCACCTCTACAGTTAAAAGTGCC	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		827		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1275531	G G	GGTGAGTG others(19): Show GGTGAGTGTGTGGGTGAGTGTGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01884.hp1 others(10): Show HG01109.hp2 HG01243.hp2 HG01884.hp1 HG02257.hp1 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02896.hp2 HG03139.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	13	271	0.0480	26	c.42 others(37): Show c.4260_*4261insGTGAGTGTGTGGGTGAGTGTGTGAGT	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		3717		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1275531	G G	GGTGAGTG others(19): Show GGTGAGTGTGTGTGGGTGAGTGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG03098.hp2 HG03130.hp1 others(2): Show HG01433.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0000 a0001c0002t0002g0000 a0001c0002t0001g0000 a0001c0002t0002g0000	5	263	0.0190	26	c.42 others(37): Show c.4260_*4261insGTGAGTGTGTGTGGGTGAGTGTGAGT	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		3717		chr17	TogoVar
BHMT_chr5_79106809_79137288	79136983	T T	TATATATA others(19): Show TATATATATATATATGAATATATATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02896.hp1 NA20300.hp1 HG02615.hp1 HG02896.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	3	430	0.0070	26	c.58 others(37): Show c.5867_*5868insATATATATATATATGAATATATATTC	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		4696		chr5	TogoVar
BHMT_chr5_79106809_79137288	79136989	T T	TATATGAA others(19): Show TATATGAATATATATTCATATATATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00733.hp2 others(39): Show HG00408.hp1 HG00609.hp1 HG00733.hp2 HG01168.hp1 HG02015.hp2 HG02071.hp2 HG02572.hp2 HG02630.hp2 HG02723.hp2 HG02895.hp1 HG03041.hp1 HG03225.hp1 HG03540.hp1 HG03579.hp2 HG03927.hp2 NA18942.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18965.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18987.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19009.hp2 NA19054.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp2 NA19081.hp2 NA19083.hp2 NA19086.hp2 NA19091.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0001c0001t0001 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0034 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0092 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0155 a0001c0001t0006g0146 a0002c0002t0001g0111 a0002c0002t0001g0139	42	380	0.1105	26	c.58 others(37): Show c.5873_*5874insATATGAATATATATTCATATATATGA	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		4702		chr5	TogoVar
BHMT_chr5_79106809_79137288	79137035	C C	CATATGAA others(19): Show CATATGAATATATATATGAATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00639.hp1 others(54): Show HG00099.hp1 HG00323.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02083.hp2 HG02486.hp2 HG02572.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03486.hp1 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18939.hp2 NA18963.hp1 NA18980.hp2 NA18993.hp1 NA19082.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0007 a0001c0001 a0002c0003 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0002c0003t0001 a0005c0007t0001	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 others(45): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0291 a0001c0001t0002g0171 a0001c0001t0007g0238 a0002c0003t0001g0004 a0002c0003t0001g0226 a0005c0007t0001g0050	57	320	0.1781	26	c.59 others(37): Show c.5919_*5920insATATGAATATATATATGAATATACAT	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		4748		chr5	TogoVar
BHMT_chr5_79106809_79137288	79137152	C C	CACGAATA others(19): Show CACGAATACATATACGAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02615.hp1 HG02630.hp1 others(12): Show HG01884.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02818.hp2 HG02896.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp2 NA19043.hp2 NA19056.hp2 NA19091.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0048 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0048 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0283 a0002c0002t0001g0085 a0002c0002t0001g0138 a0002c0002t0001g0140	15	429	0.0350	26	c.60 others(37): Show c.6036_*6037insACGAATACATATACGAATATATATAT	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		4865		chr5	TogoVar
BICC1_chr10_58507872_58836435	58525898	G G	GAATTCTA others(19): Show GAATTCTAAGCAGAATTTCTAAGCAGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	130	0.0077	26	c.190 others(45): Show c.190+12565_190+12566insAATTCTAAGCAGAATTTCTAAGCAGA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20			chr10	TogoVar
BICC1_chr10_58507872_58836435	58769402	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0086 a0001c0001t0047g0086	1	83	0.0120	26	c.308 others(45): Show c.308-15598_308-15597insATATATATATATATATATATATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32117705	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0105 a0001c0001t0006g0105	1	232	0.0043	26	c.213 others(45): Show c.213+10162_213+10163insCACACACACACACACACACACACACA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32198323	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	125	0.0080	26	c.214 others(45): Show c.214-17922_214-17921insATATATATATATATATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346558	A A	ATATATAT others(19): Show ATATATATATATATATATATACGTGTG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	271	0.0037	26	c.276 others(45): Show c.2764+7599_2764+7600insCGTGTGTATATATATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar

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