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
BLTP1_chr4_122147331_122367752	122321979	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0223 a0001c0003t0001g0223	1	11	0.0909	27	c.109 others(48): Show c.10996-2438_10996-2412dupTTTTTTTTTTTTTTTTTTTTTTTT TTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3A_chr6_34787083_34882514	34792126	T T	TGGCGGCG others(20): Show TGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0031 a0004c0004t0031	a0004c0004t0031g0028 a0004c0004t0031g0028	1	142	0.0070	27	c.-11 others(36): Show c.-110_-109insGGCGGCGGCGGCGGCGGCGGCGGCGGC	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/21	109	INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0040 a0001c0004t0001g0040	1	102	0.0098	27	c.44+ others(42): Show c.44+1862_44+1863insATATATATATATATATATTTTTTTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BMAL1_chr11_13272790_13392266	13288394	T T	TTTTCTTT others(20): Show TTTTCTTTCTTTCTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01891.hp1 HG01081.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0184 a0001c0001t0001g0151 a0001c0001t0001g0184	2	129	0.0155	27	c.-26 others(48): Show c.-263+10485_-263+10486insCTTTCTTTCTTTCTTTCTTTCTTT CTT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02074.hp1 HG02896.hp1 others(1): Show HG01109.hp2 HG02074.hp1 HG02896.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0048 a0001c0001t0002g0076 a0001c0001t0003g0085 others(1): Show a0001c0001t0001g0048 a0001c0001t0002g0076 a0001c0001t0003g0085 a0001c0001t0003g0142	4	18	0.2222	27	c.106 others(44): Show c.106+9365_106+9391dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMP2K_chr4_78771350_78921365	78829787	T T	TTTCTTTT others(20): Show TTTCTTTTCTCTTTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	115	0.0087	27	c.297 others(44): Show c.297+3636_297+3637insTTTCTCTTTTCTCTTCTCTTCTCTTCT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78829787	T T	TTTCTTTT others(20): Show TTTCTTTTCTTTTCTCTTTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03579.hp1 HG02886.hp2 HG03579.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0001 a0001c0001t0001 a0007c0008t0001	a0001c0001t0001g0056 a0007c0008t0001g0055 a0001c0001t0001g0056 a0007c0008t0001g0055	2	116	0.0172	27	c.297 others(44): Show c.297+3636_297+3637insTTTCTTTTCTCTTTTCTCTTCTCTTCT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	97	0.0103	27	c.665 others(46): Show c.665-32031_665-32030insAAAAAAAAAAATATATATATATATAT A	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7856595	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0032 a0001c0001t0020g0032	1	41	0.0244	27	c.858 others(44): Show c.858-4837_858-4836insTTTTTTTTTTTTTTTTTTTTTTTTTTT	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMPR1A_chr10_86751619_86932969	86790188	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0250 a0002c0001t0001g0250	1	189	0.0053	27	c.-26 others(48): Show c.-268+33270_-268+33271insAAAAAAAAAAATATATATATATAT ATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790188	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0275 a0002c0001t0001g0275	1	189	0.0053	27	c.-26 others(48): Show c.-268+33270_-268+33271insAAAAAAAAATATATATATATATAT ATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790188	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0199 a0002c0001t0001g0199	1	189	0.0053	27	c.-26 others(48): Show c.-268+33270_-268+33271insAAATATATATATATATATATATAT ATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86799507	T T	TTCCTTCC others(20): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0208 a0001c0002t0006g0208	1	268	0.0037	27	c.-26 others(48): Show c.-267-39357_-267-39356insCCTTCCTTCCTTCCTTCCTTCCTT CCT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86824105	G G	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0209 a0001c0002t0063g0209	1	177	0.0056	27	c.-26 others(48): Show c.-267-14753_-267-14752insGTGTGTGTGTGTGTGTGTGTTGTG TGT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94770182	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01192.hp2 HG03688.hp1 HG00280.hp2 HG01192.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0047 a0001c0001t0002 a0001c0001t0047	a0001c0001t0002g0083 a0001c0001t0002g0187 a0001c0001t0047g0104 a0001c0001t0002g0083 a0001c0001t0002g0187 a0001c0001t0047g0104	3	167	0.0180	27	c.-18 others(48): Show c.-183+12117_-183+12118insTTTTTTTTTTTTTTTTTTTTTTTT TTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR2_chr2_202371327_202572749	202384569	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03704.hp1 HG04199.hp2 HG03017.hp1 HG03704.hp1 HG04199.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0002 a0001c0002t0046 a0005c0006t0002 a0001c0002t0002 a0001c0002t0046 a0005c0006t0002	a0001c0002t0002g0108 a0001c0002t0046g0106 a0005c0006t0002g0110 a0001c0002t0002g0108 a0001c0002t0046g0106 a0005c0006t0002g0110	3	14	0.2143	27	c.76+ others(42): Show c.76+7021_76+7022insCTTTCTTTCTTTCTTTTTTTCTTTCTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	136	0.0074	27	c.77- others(44): Show c.77-29900_77-29899insAAAAAAATATATATATATATATATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	136	0.0074	27	c.77- others(44): Show c.77-29900_77-29899insAAAAATATATATATATATATATATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	136	0.0074	27	c.77- others(44): Show c.77-29901_77-29900insTATATATATATATATATATATATATAT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12			chr2	TogoVar
BORCS8_chr19_19171906_19197152	19174385	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0055	3	107	0.0280	27	c.31 others(38): Show c.3117_*3118insAAAAAAAAAAAAAAAAAAAAAAAAAAA	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding		2520		chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177696	G G	GGAAGGAA others(20): Show GGAAGGAAGGAAGAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	228	0.0044	27	c.43 others(42): Show c.43-237_*43-236insTTTCTTTTCTTTTCTCTTCCTTCCTTC	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177696	G G	GGAAGGAA others(20): Show GGAAGGAAGGAAGGGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19043.hp1 HG02257.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0163 a0001c0001t0004g0164	2	229	0.0087	27	c.43 others(42): Show c.43-237_*43-236insTTTCTTTTCTTTTCCCTTCCTTCCTTC	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPIFC_chr22_32408845_32469446	32424684	T T	TTCCTCCT others(20): Show TTCCTCCTCTTCTTCCTCCTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0048 a0003c0003t0003g0048	1	409	0.0024	27	c.121 others(46): Show c.1218-5281_1218-5280insGGAAGAAGAGGAGGAAGAAGAGGAGG A	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPTF_chr17_67820503_67989378	67917130	C C	CATTGTCC others(20): Show CATTGTCCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0004 a0006c0010t0002g0004	1	255	0.0039	27	c.530 others(46): Show c.5304-1584_5304-1583insATTGTCCTTTTTTTTTTTTTTTTTTT T	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27			chr17	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0220	1	99	0.0101	27	c.530 others(46): Show c.5304-1564_5304-1563insTTTTTTTTTTTTTTTTTTTTTTTTTT T	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAF_chr7_140714337_140929929	140915432	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	166	0.0060	27	c.138 others(44): Show c.138+9133_138+9134insAAAAAAAAAAAAAAAAAAAAAAAAAAA	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140725665_140929929	140915432	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0041 a0001c0002t0010g0041	1	171	0.0058	27	c.138 others(44): Show c.138+9133_138+9134insAAAAAAAAAAAAAAAAAAAAAAAAAAA	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/17			chr7	TogoVar
BRAP_chr12_111637146_111690956	111667698	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG06807.hp1 HG06807.hp2 others(2): Show HG02965.hp2 HG06807.hp1 HG06807.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0125 a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0125	5	71	0.0704	27	c.748 others(44): Show c.748-1912_748-1911insTTTTTTTTTTTTTTTTTTTTTTTTTTT	BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	5/11			chr12	TogoVar
BRAT1_chr7_2532810_2560524	2552081	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	333	0.0030	27	c.127 others(44): Show c.127+2223_127+2224insATATATATATATATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	241	0.0041	27	c.127 others(44): Show c.127+2198_127+2199insATATATATATATATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18983.hp1 HG00741.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0150 a0001c0001t0001g0151	2	242	0.0083	27	c.127 others(44): Show c.127+2198_127+2199insAAATATATATATATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0232 a0007c0016t0001g0232	1	241	0.0041	27	c.127 others(44): Show c.127+2198_127+2199insAAAAATATATATATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552107	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG03654.hp1 others(2): Show HG01070.hp2 HG01071.hp1 HG03654.hp1 NA18979.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0003t0001g0019 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0003t0001g0019 a0001c0003t0001g0191	5	343	0.0146	27	c.127 others(44): Show c.127+2197_127+2198insTATATATATATATATATATATATATAT	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRCA1_chr17_43039295_43130364	43100669	T T	TTATATAT others(20): Show TTATATATATATATAACATATATATAAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02109.hp1 others(12): Show HG01884.hp1 HG01891.hp1 HG02109.hp1 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG03130.hp1 HG03209.hp1 HG03579.hp1 HG06807.hp1 NA19240.hp2	a0003 a0014 a0003 a0014	a0003c0003 a0014c0021 a0003c0003 a0014c0021	a0003c0003t0002 a0003c0003t0004 a0014c0021t0004 a0003c0003t0002 a0003c0003t0004 a0014c0021t0004	a0003c0003t0002g0113 a0003c0003t0002g0121 a0003c0003t0002g0138 others(12): Show a0003c0003t0002g0113 a0003c0003t0002g0121 a0003c0003t0002g0138 a0003c0003t0002g0143 a0003c0003t0002g0146 a0003c0003t0002g0147 a0003c0003t0002g0150 a0003c0003t0004g0136 a0003c0003t0004g0137 a0003c0003t0004g0149 a0003c0003t0004g0152 a0003c0003t0004g0153 a0003c0003t0004g0154 a0003c0003t0004g0155 a0014c0021t0004g0148	15	270	0.0556	27	c.442 others(42): Show c.442-790_442-789insGTTATATATATGTTATATATATATATA	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRD4_chr19_15230519_15337539	15292812	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0073 a0003c0026t0073	a0003c0026t0073g0181 a0003c0026t0073g0181	1	205	0.0049	27	c.-34 others(46): Show c.-34-19680_-34-19679insCTTTTTTTTTTTTTTTTTTTTTTTTT T	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	1/19			chr19	TogoVar
BRI3BP_chr12_124988645_125036231	124997214	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	20	0.0500	27	c.213 others(44): Show c.213+3230_213+3231insTTTTTTTTTTTTTTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125019634	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0209 a0002c0002t0003g0209	1	325	0.0031	27	c.317 others(44): Show c.317-5357_317-5356insTTTTTTTTTTTTTTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2			chr12	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	131	0.0076	27	c.-15 others(38): Show c.-1551_-1550insAAAAAAAAAATATATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1440		chr7	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	131	0.0076	27	c.-15 others(38): Show c.-1551_-1550insAAAAAAAATATATATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1440		chr7	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 NA19068.hp1 HG01169.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0003 a0001c0001t0001g0007	2	132	0.0152	27	c.-15 others(38): Show c.-1551_-1550insAAAAAATATATATATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1440		chr7	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	131	0.0076	27	c.-15 others(38): Show c.-1551_-1550insAATATATATATATATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1440		chr7	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AGATATAT others(20): Show AGATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01123.hp2 HG02965.hp1 others(6): Show HG00673.hp1 HG01123.hp2 HG02965.hp1 NA18747.hp2 NA18954.hp1 NA18956.hp1 NA18971.hp2 NA18977.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0058 a0001c0001t0002g0002	9	139	0.0647	27	c.-15 others(38): Show c.-1551_-1550insGATATATATATATATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1440		chr7	TogoVar
BRK1_chr3_10110675_10132190	10123732	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03486.hp1 NA20300.hp2 HG03209.hp1 HG03486.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0107 a0001c0001t0001g0029 a0001c0001t0001g0107	3	29	0.1034	27	c.119 others(44): Show c.119-1873_119-1872insTTTTTTTTTTTTTTTTTTTTTTTTTTT	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRMS1_chr11_66332339_66350104	66338342	C C	CCCATCCC others(20): Show CCCATCCCCCACCTCTGTGGCTTGTGGG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	422	0.0024	27	c.694 others(40): Show c.694-61_694-60insCCCACAAGCCACAGAGGTGGGGGATGG	BRMS1	ENSG00000174744.14	transcript	ENST00000359957.8	protein_coding	8/9			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1439869	T T	TCTTCCCC others(20): Show TCTTCCCCTGCCCTGGGGGCTTCACCGC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02717.hp1 HG03041.hp2 others(1): Show HG01346.hp2 HG02717.hp1 HG03041.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0003 a0002c0005t0005 a0002c0005t0034 a0001c0003t0003 a0002c0005t0005 a0002c0005t0034	a0001c0003t0003g0288 a0002c0005t0005g0286 a0002c0005t0034g0057 others(1): Show a0001c0003t0003g0288 a0002c0005t0005g0286 a0002c0005t0034g0057 a0002c0005t0034g0058	4	358	0.0112	27	c.273 others(42): Show c.273-895_273-894insCGCCTTCCCCTGCCCTGGGGGCTTCAC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1466284	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0184 a0001c0001t0057g0184	1	358	0.0028	27	c.55 others(38): Show c.5561_*5562insACACACACACACACACACACACACACA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding		3596		chr11	TogoVar
BSG_chr19_567596_588493	570744	G G	GGGCGGAG others(20): Show GGGCGGAGGGGTGGGTGGGGGAGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	304	0.0033	27	c.-18 others(38): Show c.-1891_-1890insGGCGGAGGGGTGGGTGGGGGAGGGGGC	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1851		chr19	TogoVar
BSG_chr19_567596_588493	570801	G G	GGGGGAGG others(20): Show GGGGGAGGGGCGGGTGGGGGTGGAGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	304	0.0033	27	c.-18 others(38): Show c.-1834_-1833insGGGGAGGGGCGGGTGGGGGTGGAGGGT	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1794		chr19	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0012 a0001c0001t0060g0012	1	278	0.0036	27	c.-23 others(38): Show c.-2350_-2349insTTTTTTTTTTTTTTTTTTTTTTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSPH1_chr19_47963046_47997170	47969684	G G	GAGAGAGA others(20): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	65	0.0154	27	c.3- others(42): Show c.3-1476_*3-1475insTCTCTCTCTCTCTCTCTCTCTCTCTCT	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar

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