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
BORCS8_chr19_19171906_19197152	19177696	G G	GGAAGGAA others(16): Show GGAAGGAAGAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA19089.hp1 HG01952.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0207 a0001c0001t0005g0016 a0001c0001t0001g0207 a0001c0001t0005g0016	2	229	0.0087	23	c.43 others(38): Show c.43-237_*43-236insTTTCTTTTCTTTTCTCTTCCTTC	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177696	G G	GGAAGGAA others(16): Show GGAAGGAAGGGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0102 a0001c0001t0005g0102	1	228	0.0044	23	c.43 others(38): Show c.43-237_*43-236insTTTCTTTTCTTTTCCCTTCCTTC	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177760	A A	AAAGAAAA others(16): Show AAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	426	0.0023	23	c.43 others(38): Show c.43-301_*43-300insCTTTTCTTTTCTTTTCTTTTCTT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPIFC_chr22_32408845_32469446	32424648	T T	TCCTCCTC others(16): Show TCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0381 a0001c0001t0001g0381	1	274	0.0036	23	c.121 others(42): Show c.1218-5245_1218-5244insGGAGGAGGAGGAGGAGGAGGAGG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPI_chr20_38299156_38342505	38339638	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02698.hp2 NA19076.hp2 others(1): Show HG02015.hp1 HG02698.hp2 NA19076.hp2 NA19081.hp2	a0004 a0030 a0004 a0030	a0004c0004 a0004c0032 a0030c0033 a0004c0004 a0004c0032 a0030c0033	a0004c0004t0003 a0004c0032t0003 a0030c0033t0003 a0004c0004t0003 a0004c0032t0003 a0030c0033t0003	a0004c0004t0003g0015 a0004c0004t0003g0047 a0004c0032t0003g0305 others(1): Show a0004c0004t0003g0015 a0004c0004t0003g0047 a0004c0032t0003g0305 a0030c0033t0003g0192	4	50	0.0800	23	c.24 others(34): Show c.2454_*2455insAAAAAAAAAAAAAAAAAAAAAAA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding		2134		chr20	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01981.hp2 others(5): Show HG00673.hp1 HG00673.hp2 HG01981.hp2 NA18953.hp2 NA18969.hp2 NA18972.hp1 NA19012.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0181 a0002c0002t0002g0183 a0002c0002t0002g0195 others(5): Show a0002c0002t0002g0181 a0002c0002t0002g0183 a0002c0002t0002g0195 a0002c0002t0002g0211 a0002c0002t0002g0221 a0002c0002t0002g0228 a0002c0002t0002g0243 a0002c0002t0002g0245	8	106	0.0755	23	c.530 others(42): Show c.5304-1564_5304-1563insTTTTTTTTTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAP_chr12_111637146_111690956	111667698	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02886.hp1 HG03239.hp1 others(2): Show HG02129.hp2 HG02886.hp1 HG03239.hp1 NA18968.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0139 others(2): Show a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0139 a0001c0001t0001g0180 a0001c0001t0008g0183	5	71	0.0704	23	c.748 others(40): Show c.748-1934_748-1912dupTTTTTTTTTTTTTTTTTTTTTTT	BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	5/11			chr12	TogoVar
BRAT1_chr7_2532810_2560524	2552081	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	333	0.0030	23	c.127 others(40): Show c.127+2223_127+2224insATATATATATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18942.hp1 NA19002.hp2 HG00609.hp2 NA18942.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0145 a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0145	3	243	0.0123	23	c.127 others(40): Show c.127+2198_127+2199insATATATATATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02015.hp2 HG03490.hp2 others(2): Show HG00741.hp1 HG02015.hp2 HG03490.hp2 NA18951.hp2 NA20129.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0016 a0001c0001 a0001c0002 a0007c0016	a0001c0001t0001 a0001c0002t0001 a0007c0016t0001 a0001c0001t0001 a0001c0002t0001 a0007c0016t0001	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0043 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0002t0001g0004 a0007c0016t0001g0233	5	245	0.0204	23	c.127 others(40): Show c.127+2198_127+2199insAAATATATATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19074.hp2 HG01884.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0142 a0001c0003t0001g0156 a0001c0001t0001g0142 a0001c0003t0001g0156	2	242	0.0083	23	c.127 others(40): Show c.127+2198_127+2199insAAAAATATATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552107	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01257.hp1 HG02132.hp1 others(4): Show HG00621.hp1 HG01257.hp1 HG02132.hp1 HG02148.hp2 HG02615.hp2 NA18945.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0002t0001g0034 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0002t0001g0034 a0001c0003t0001g0006 a0001c0003t0001g0187 a0001c0003t0001g0221	7	345	0.0203	23	c.127 others(40): Show c.127+2197_127+2198insTATATATATATATATATATATAT	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRD4_chr19_15230519_15337539	15271909	T T	TACACACC others(16): Show TACACACCAGTGGCTCTGGTGTGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01934.hp2 HG02004.hp2 others(6): Show HG00741.hp2 HG01934.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02155.hp1 HG02258.hp1 HG02572.hp2 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0007 a0001c0001t0010 a0001c0001t0047 others(6): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0047 a0001c0001t0072 a0001c0002t0014 a0001c0002t0016 a0001c0002t0026 a0002c0003t0001 a0002c0003t0003	a0001c0001t0007g0148 a0001c0001t0010g0120 a0001c0001t0047g0078 others(6): Show a0001c0001t0007g0148 a0001c0001t0010g0120 a0001c0001t0047g0078 a0001c0001t0072g0144 a0001c0002t0014g0187 a0001c0002t0016g0195 a0001c0002t0026g0188 a0002c0003t0001g0048 a0002c0003t0003g0193	9	191	0.0471	23	c.285 others(38): Show c.285+883_285+905dupGCACACCAGAGCCACTGGTGTGT	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	2/19			chr19	TogoVar
BRF1_chr14_105204286_105306001	105214548	T T	TGCGTGGC others(16): Show TGCGTGGCTCAGCTGCCCACACCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	70	0.0143	23	c.177 others(42): Show c.1773-2385_1773-2384insGGGTGTGGGCAGCTGAGCCACGC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	15/17			chr14	TogoVar
BRI3BP_chr12_124988645_125036231	124997214	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp2 HG01257.hp1 others(15): Show HG00099.hp2 HG01099.hp2 HG01257.hp1 HG01258.hp1 HG02083.hp2 HG02132.hp2 HG03491.hp2 HG03492.hp2 HG04204.hp1 NA18940.hp1 NA18946.hp2 NA18954.hp2 NA18983.hp2 NA19062.hp1 NA19077.hp2 NA19088.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0027 a0001c0001t0040 a0001c0001t0041 a0001c0001t0059 a0001c0001t0090 a0001c0001t0096 a0001c0001t0098 a0002c0002t0001	a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0114 others(15): Show a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0012g0172 a0001c0001t0027g0113 a0001c0001t0040g0106 a0001c0001t0040g0115 a0001c0001t0041g0005 a0001c0001t0059g0105 a0001c0001t0090g0107 a0001c0001t0096g0005 a0001c0001t0098g0108 a0002c0002t0001g0278	18	37	0.4865	23	c.213 others(40): Show c.213+3230_213+3231insTTTTTTTTTTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125016825	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0158 a0002c0002t0004g0158	1	28	0.0357	23	c.316 others(40): Show c.316+4194_316+4216dupTTTTTTTTTTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125019634	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0237 a0002c0002t0004g0237	1	325	0.0031	23	c.317 others(40): Show c.317-5357_317-5356insTTTTTTTTTTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2			chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125022541	A A	ATTTATTT others(16): Show ATTTATTTATTTATTTATTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19062.hp1 HG02280.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0280 a0001c0001t0002g0110 a0001c0001t0002g0280	2	202	0.0099	23	c.317 others(40): Show c.317-2447_317-2446insATTTATTTATTTATTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125022541	A A	ATTTATTT others(16): Show ATTTATTTATTTATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03225.hp1 HG03130.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0036 a0001c0001t0031g0037 a0001c0001t0031g0036 a0001c0001t0031g0037	2	202	0.0099	23	c.317 others(40): Show c.317-2447_317-2446insATTTATTTATTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01256.hp1 HG01346.hp2 HG00323.hp1 HG01256.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	3	133	0.0226	23	c.-15 others(34): Show c.-1551_-1550insAAAAAATATATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1440		chr7	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01192.hp2 HG01496.hp1 others(1): Show HG00140.hp1 HG01192.hp2 HG01496.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0007g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0007g0003	4	134	0.0299	23	c.-15 others(34): Show c.-1551_-1550insAAAATATATATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1440		chr7	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AGATATAT others(16): Show AGATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG02622.hp2 HG02683.hp1 others(8): Show HG00738.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG02886.hp2 HG03834.hp2 NA18950.hp2 NA18998.hp1 NA19011.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0094	11	141	0.0780	23	c.-15 others(34): Show c.-1551_-1550insGATATATATATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1440		chr7	TogoVar
BRINP1_chr9_119161629_119374435	119302401	T T	TAGCCACT others(16): Show TAGCCACTAAATTTGTCACAACAG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0215 a0001c0001t0005g0215	1	234	0.0043	23	c.218 others(42): Show c.218+10714_218+10736dupCTGTTGTGACAAATTTAGTGGCT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	2/7			chr9	TogoVar
BRINP2_chr1_177165958_177287422	177182111	C C	CCCTCCCT others(16): Show CCCTCCCTGCCCCACCCCTCCCAT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	250	0.0040	23	c.-77 others(42): Show c.-77+10410_-77+10432dupGCCCCACCCCTCCCATCCTCCCT	BRINP2	ENSG00000198797.7	transcript	ENST00000361539.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
BRINP2_chr1_177165958_177287422	177200293	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03669.hp1 HG01106.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0160 a0001c0001t0003g0159 a0001c0001t0001g0160 a0001c0001t0003g0159	2	41	0.0488	23	c.-77 others(42): Show c.-77+28568_-77+28590dupAAAAAAAAAAAAAAAAAAAAAAA	BRINP2	ENSG00000198797.7	transcript	ENST00000361539.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
BRINP3_chr1_190092658_190482864	190277087	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03688.hp2 HG02257.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0050 a0001c0001t0002g0220 a0001c0001t0001g0050 a0001c0001t0002g0220	2	76	0.0263	23	c.427 others(40): Show c.427+4472_427+4473insTATATATATATATATATATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190453203	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp1 HG02257.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0191 a0001c0001t0001g0192	2	20	0.1000	23	c.236 others(40): Show c.236+1429_236+1451dupAAAAAAAAAAAAAAAAAAAAAAA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRIP1_chr17_61674139_61868528	61770795	A A	AGAAAAAT others(16): Show AGAAAAATTTAAATGGCACACTAG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	2	264	0.0076	23	c.209 others(42): Show c.2097+5583_2097+5605dupCTAGTGTGCCATTTAAATTTTTC	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BRK1_chr3_10110675_10132190	10123732	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	27	0.0370	23	c.119 others(40): Show c.119-1873_119-1872insTTTTTTTTTTTTTTTTTTTTTTT	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRWD1_chr21_39180482_39318632	39185295	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0129 a0003c0004t0005g0129	1	56	0.0179	23	c.10 others(36): Show c.10941_*10963dupTTTTTTTTTTTTTTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding		186		chr21	TogoVar
BRWD1_chr21_39180482_39318632	39267198	T T	TAATCAAA others(16): Show TAATCAAAGGTCTAAGAACCTGAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0139 a0001c0001t0041g0139	1	330	0.0030	23	c.153 others(42): Show c.1531-2202_1531-2180dupCTCAGGTTCTTAGACCTTTGATT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	15/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39313645	C C	CCGCGGGG others(16): Show CCGCGGGGGAGGAAGTAGTCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG03540.hp1 HG02818.hp1 HG03540.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0025 a0004c0003t0026 a0004c0003t0025 a0004c0003t0026	a0004c0003t0025g0002 a0004c0003t0026g0001 a0004c0003t0025g0002 a0004c0003t0026g0001	2	336	0.0060	23	c.-15 others(32): Show c.-155_-154insAAGGGACTACTTCCTCCCCCGCG	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding		14		chr21	TogoVar
BRWD1_chr21_39180482_39318632	39313672	G G	GGGGGAGG others(16): Show GGGGGAGGAAGTAGTCCCTCCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01123.hp1 HG01169.hp2 others(6): Show HG01099.hp2 HG01123.hp1 HG01169.hp2 HG01192.hp2 HG01515.hp1 HG01952.hp1 HG02257.hp2 HG03704.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0034 a0003c0004t0010 a0001c0001t0034 a0003c0004t0010	a0001c0001t0034g0062 a0003c0004t0010g0087 a0003c0004t0010g0088 others(6): Show a0001c0001t0034g0062 a0003c0004t0010g0087 a0003c0004t0010g0088 a0003c0004t0010g0089 a0003c0004t0010g0090 a0003c0004t0010g0092 a0003c0004t0010g0093 a0003c0004t0010g0094 a0003c0004t0010g0095	9	81	0.1111	23	c.-18 others(32): Show c.-182_-181insTGCGGAGGGACTACTTCCTCCCC	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding		41		chr21	TogoVar
BRWD3_chrX_80664503_80814877	80730389	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0242 a0001c0001t0005g0242	1	50	0.0200	23	c.112 others(40): Show c.1128-370_1128-369insCTTTCTTTCTTTCTTTCTTTCTT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	12/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80809759	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0109 a0001c0001t0006g0109	1	49	0.0204	23	c.-28 others(32): Show c.-289_-288insCTCTCTCTCTCTCTCTCTCTCTC	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	1/41	289		chrX	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02145.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0157 a0001c0001t0139 a0001c0001t0157	a0001c0001t0139g0129 a0001c0001t0157g0032 a0001c0001t0139g0129 a0001c0001t0157g0032	2	279	0.0072	23	c.-23 others(34): Show c.-2350_-2349insTTTTTTTTTTTTTTTTTTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSN_chr3_49549477_49676549	49606289	T T	TATATATA others(16): Show TATATATATTAAAATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(19): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01516.hp2 HG02055.hp2 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02895.hp1 HG03130.hp2 HG03654.hp2 HG03942.hp2 NA18991.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0015 a0019	a0001c0001 a0002c0002 a0002c0019 others(5): Show a0001c0001 a0002c0002 a0002c0019 a0005c0007 a0005c0032 a0005c0034 a0015c0036 a0019c0038	a0001c0001t0012 a0002c0002t0001 a0002c0002t0019 others(8): Show a0001c0001t0012 a0002c0002t0001 a0002c0002t0019 a0002c0019t0001 a0005c0007t0007 a0005c0007t0031 a0005c0007t0032 a0005c0032t0007 a0005c0034t0017 a0015c0036t0001 a0019c0038t0027	a0001c0001t0012g0056 a0002c0002t0001g0052 a0002c0002t0001g0053 others(19): Show a0001c0001t0012g0056 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0060 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0086 a0002c0002t0001g0162 a0002c0002t0019g0057 a0002c0019t0001g0055 a0005c0007t0007g0003 a0005c0007t0031g0006 a0005c0007t0032g0005 a0005c0032t0007g0079 a0005c0034t0017g0002 a0015c0036t0001g0059 a0019c0038t0027g0004	22	35	0.6286	23	c.225 others(42): Show c.225-18673_225-18672insTATATATATAATATATATTAAAA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49613349	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0024 a0024	a0024c0035 a0024c0035	a0024c0035t0002 a0024c0035t0002	a0024c0035t0002g0133 a0024c0035t0002g0133	1	182	0.0055	23	c.225 others(42): Show c.225-11626_225-11625insGAGAGAGAGAGAGAGAGAGAGAG	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11			chr3	TogoVar
BSPH1_chr19_47963046_47997170	47969684	G G	GAGAGAGA others(16): Show GAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	65	0.0154	23	c.3- others(38): Show c.3-1476_*3-1475insTCTCTCTCTCTCTCTCTCTCTCT	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BSX_chr11_122972570_122986834	122983523	G G	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAAGAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01891.hp1 HG02055.hp1 others(4): Show HG01123.hp1 HG01891.hp1 HG02055.hp1 HG02572.hp2 HG02717.hp1 HG02886.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0016 a0002c0002t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 a0002c0002t0001g0009	7	32	0.2188	23	c.-18 others(34): Show c.-1853_-1852insTCTTTTCTTTTCTTTCTTTCTTT	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding		1690		chr11	TogoVar
BTAF1_chr10_91918770_92036437	92032009	C C	CTTCTTTT others(16): Show CTTCTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 NA18968.hp1 HG02074.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0182 a0001c0001t0003g0184	2	17	0.1176	23	c.30 others(34): Show c.3076_*3077insTTCTTTTTTTTTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding		573		chr10	TogoVar
BTBD9_chr6_38163451_38644929	38417801	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01255.hp1 HG02257.hp1 others(6): Show HG00140.hp1 HG01255.hp1 HG02257.hp1 HG02630.hp2 HG02970.hp1 HG03486.hp1 NA18998.hp1 NA19063.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0020 others(6): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0029 a0001c0001t0064 a0001c0001t0080 a0001c0001t0089 a0001c0001t0124	a0001c0001t0002g0212 a0001c0001t0015g0208 a0001c0001t0020g0113 others(6): Show a0001c0001t0002g0212 a0001c0001t0015g0208 a0001c0001t0020g0113 a0001c0001t0021g0136 a0001c0001t0029g0182 a0001c0001t0064g0133 a0001c0001t0080g0137 a0001c0001t0089g0114 a0001c0001t0124g0134	9	108	0.0833	23	c.115 others(44): Show c.1155-72709_1155-72708insCTCTCTCTCTCTCTCTCTCTCTC	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTLA_chr3_112458966_112504472	112469629	A A	ATAGTACA others(16): Show ATAGTACATAGAATATGTATATAC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	338	0.0030	23	c.594 others(38): Show c.594+128_594+129insGTATATACATATTCTATGTACTA	BTLA	ENSG00000186265.10	transcript	ENST00000334529.10	protein_coding	4/4			chr3	TogoVar
BTLA_chr3_112458966_112504472	112469631	A A	ATAGTACA others(16): Show ATAGTACATAGAATATGTATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp2 HG02683.hp2 others(7): Show HG00140.hp1 HG01069.hp2 HG02683.hp2 HG03669.hp2 HG03710.hp1 NA18747.hp2 NA18955.hp2 NA18970.hp1 NA19002.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0122 a0001c0001t0001g0142 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0122 a0001c0001t0001g0142 a0001c0001t0002g0112 a0001c0001t0013g0019 a0002c0002t0003g0121	10	158	0.0633	23	c.594 others(38): Show c.594+126_594+127insGTATATACATATTCTATGTACTA	BTLA	ENSG00000186265.10	transcript	ENST00000334529.10	protein_coding	4/4			chr3	TogoVar
BTRC_chr10_101349165_101562313	101387528	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01975.hp1 HG01993.hp2 others(24): Show HG00609.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02129.hp1 HG02135.hp2 HG02273.hp2 HG02451.hp1 HG02735.hp2 HG03139.hp1 HG03540.hp2 HG03704.hp2 HG03710.hp2 NA18948.hp1 NA18954.hp1 NA18959.hp2 NA18962.hp1 NA18969.hp2 NA18971.hp2 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19043.hp1 NA19058.hp2 NA19068.hp2 NA19074.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0113 a0001c0001t0003g0164 a0001c0001t0003g0179 others(24): Show a0001c0001t0001g0113 a0001c0001t0003g0164 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0195 a0001c0001t0003g0200 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0227 a0001c0001t0003g0259 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0238 a0001c0001t0004g0254 a0001c0001t0004g0260 a0001c0001t0005g0176 a0001c0001t0005g0203 a0001c0001t0005g0228 a0001c0001t0007g0011 a0001c0001t0007g0013 a0001c0001t0007g0194	27	28	0.9643	23	c.48+ others(40): Show c.48+33318_48+33319insTTTTTTTTTTTTTTTTTTTTTTT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101455981	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0205 a0001c0001t0004g0205	1	262	0.0038	23	c.157 others(40): Show c.157-6000_157-5999insCACACACACACACACACACACAC	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	2/14			chr10	TogoVar
BTRC_chr10_101349165_101562313	101455983	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18952.hp2 NA18966.hp2 HG01975.hp1 NA18952.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0070 a0001c0001t0003g0186 a0001c0001t0003g0193 a0001c0001t0002g0070 a0001c0001t0003g0186 a0001c0001t0003g0193	3	10	0.3000	23	c.157 others(40): Show c.157-5998_157-5997insCACACACACACACACACACACAC	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	2/14			chr10	TogoVar
BTRC_chr10_101349165_101562313	101522409	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0184 a0001c0001t0004g0184	1	6	0.1667	23	c.556 others(38): Show c.556+545_556+567dupTTTTTTTTTTTTTTTTTTTTTTT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101549713	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0249 a0001c0001t0007g0249	1	49	0.0204	23	c.165 others(40): Show c.1657-985_1657-963dupAAAAAAAAAAAAAAAAAAAAAAA	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BVES_chr6_105091822_105142157	105109763	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG02145.hp1 others(6): Show HG01192.hp1 HG01192.hp2 HG02145.hp1 HG02486.hp2 HG02738.hp1 HG04184.hp2 NA19063.hp1 NA19088.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0063 a0001c0001t0070 a0001c0001t0074	a0001c0001t0001g0091 a0001c0001t0001g0125 a0001c0001t0001g0152 others(6): Show a0001c0001t0001g0091 a0001c0001t0001g0125 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0004g0149 a0001c0001t0005g0122 a0001c0001t0063g0123 a0001c0001t0070g0124 a0001c0001t0074g0121	9	54	0.1667	23	c.958 others(40): Show c.958+5922_958+5923insTTTTTTTTTTTTTTTTTTTTTTT	BVES	ENSG00000112276.14	transcript	ENST00000314641.10	protein_coding	7/7			chr6	TogoVar

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