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
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(15): Show CACACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	174	0.0057	22	c.393 others(39): Show c.393-6060_393-6059insATATATATGTGTGTGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(15): Show CACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0109 a0001c0002t0002g0109	1	174	0.0057	22	c.393 others(39): Show c.393-6060_393-6059insATATATATATATGTGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(15): Show CACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0367 a0001c0002t0004g0367	1	174	0.0057	22	c.393 others(39): Show c.393-6060_393-6059insATATATATATATATATGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACATATA others(15): Show CACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 NA21309.hp1 HG03491.hp1 HG03492.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0005 a0002c0006t0002 a0001c0003t0005 a0002c0006t0002	a0001c0003t0005g0195 a0002c0006t0002g0052 a0002c0006t0002g0055 a0001c0003t0005g0195 a0002c0006t0002g0052 a0002c0006t0002g0055	3	176	0.0170	22	c.393 others(39): Show c.393-6060_393-6059insATATATATATATATATATATGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0051 a0002c0006t0002g0051	1	174	0.0057	22	c.393 others(39): Show c.393-6060_393-6059insATATATATATATATATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ2A_chr12_56590596_56635326	56597637	G G	GACACACA others(15): Show GACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02572.hp2 HG01884.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0003 a0001c0001t0010 a0001c0002t0003	a0001c0001t0010g0214 a0001c0002t0003g0187 a0001c0001t0010g0214 a0001c0002t0003g0187	2	96	0.0208	22	c.95 others(31): Show c.959_*980dupGTGTGTGTGTGTGTGTGTGTGT	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	980		chr12	TogoVar
BBOX1_chr11_27035815_27132809	27054234	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0061 a0001c0006t0001g0113 a0001c0001t0001g0061 a0001c0006t0001g0113	2	248	0.0081	22	c.-38 others(39): Show c.-38-1158_-38-1157insTGTGTGTGTGTGTGTGTGTGCG	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18945.hp2 NA18952.hp2 others(3): Show NA18941.hp2 NA18945.hp2 NA18952.hp2 NA18960.hp1 NA18983.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0197 a0001c0001t0001g0201 others(3): Show a0001c0001t0001g0118 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224	6	201	0.0299	22	c.220 others(37): Show c.220-138_220-137insAAAAAAAAAAAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBS2_chr16_56479385_56525024	56480350	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0128 a0001c0007t0001g0128	1	378	0.0026	22	c.44 others(33): Show c.4410_*4411insTTTTTTTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4034		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACAAAAA others(15): Show CACAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG01109.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0150 a0001c0001t0001g0021 a0001c0001t0001g0150	2	270	0.0074	22	c.44 others(33): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTTTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480366	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	260	0.0038	22	c.43 others(33): Show c.4394_*4395insTTTTTTTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4018		chr16	TogoVar
BBS4_chr15_72681207_72743473	72687124	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0346 a0001c0001t0002g0346	1	14	0.0714	22	c.24+ others(35): Show c.24+883_24+884insTTTTTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72702802	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	19	0.0526	22	c.77- others(37): Show c.77-6896_77-6875dupTTTTTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS9_chr7_33124564_33611069	33188080	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02132.hp1 HG03704.hp1 others(1): Show HG01109.hp1 HG02132.hp1 HG03704.hp1 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0002c0002t0014 a0001c0001t0001 a0002c0002t0004 a0002c0002t0014	a0001c0001t0001g0231 a0002c0002t0004g0002 a0002c0002t0004g0006 others(1): Show a0001c0001t0001g0231 a0002c0002t0004g0002 a0002c0002t0004g0006 a0002c0002t0014g0005	4	81	0.0494	22	c.442 others(41): Show c.442+10500_442+10521dupTGTGTGTGTGTGTGTGTGTGTG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33231428	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	53	0.0189	22	c.443 others(41): Show c.443-25791_443-25790insTTTTTTTTTTTTTTTTTTTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107778994	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01978.hp2 HG02486.hp1 others(5): Show HG01975.hp1 HG01978.hp2 HG02486.hp1 HG02886.hp2 HG02895.hp2 HG03041.hp2 NA18906.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0011 a0001c0001 a0003c0003 a0003c0011	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0052 a0001c0001t0053 a0003c0003t0008 a0003c0011t0009	a0001c0001t0002g0048 a0001c0001t0002g0102 a0001c0001t0005g0144 others(5): Show a0001c0001t0002g0048 a0001c0001t0002g0102 a0001c0001t0005g0144 a0001c0001t0006g0049 a0001c0001t0052g0032 a0001c0001t0053g0022 a0003c0003t0008g0044 a0003c0011t0009g0160	8	96	0.0833	22	c.220 others(39): Show c.2203+481_2203+502dupTATATATATATATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797335	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	200	0.0050	22	c.235 others(41): Show c.2354-1187_2354-1186insTATATATATATATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797337	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02083.hp1 HG02896.hp1 others(10): Show HG02071.hp2 HG02083.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 NA18952.hp2 NA18986.hp1 NA18994.hp1 NA19043.hp1 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0023 a0001c0001t0026 a0001c0001t0037 a0003c0003t0008	a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0062 others(10): Show a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0002g0116 a0001c0001t0002g0162 a0001c0001t0014g0208 a0001c0001t0023g0175 a0001c0001t0026g0146 a0001c0001t0037g0151 a0003c0003t0008g0045 a0003c0003t0008g0119	13	93	0.1398	22	c.235 others(41): Show c.2354-1180_2354-1159dupTATATATATATATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797364	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01993.hp1 HG02486.hp1 others(1): Show HG00733.hp2 HG01993.hp1 HG02486.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0043 a0001c0001t0052 others(1): Show a0001c0001t0005 a0001c0001t0043 a0001c0001t0052 a0001c0001t0057	a0001c0001t0005g0028 a0001c0001t0043g0034 a0001c0001t0052g0032 others(1): Show a0001c0001t0005g0028 a0001c0001t0043g0034 a0001c0001t0052g0032 a0001c0001t0057g0197	4	161	0.0248	22	c.235 others(41): Show c.2354-1159_2354-1158insTATATATATATATATATATATG	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17			chr3	TogoVar
BCAN_chr1_156637117_156664528	156643633	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02717.hp2 HG04199.hp1 others(1): Show HG01099.hp1 HG02717.hp2 HG04199.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0006 a0001c0001 a0002c0003 a0002c0006	a0001c0001t0001 a0002c0003t0001 a0002c0006t0001 a0001c0001t0001 a0002c0003t0001 a0002c0006t0001	a0001c0001t0001g0238 a0002c0003t0001g0139 a0002c0003t0001g0140 others(1): Show a0001c0001t0001g0238 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0006t0001g0141	4	61	0.0656	22	c.-9+ others(37): Show c.-9+1359_-9+1360insGAGAGAGAGAGAGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAN_chr1_156637117_156664528	156643635	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0281 a0004c0008t0001g0281	1	11	0.0909	22	c.-9+ others(37): Show c.-9+1372_-9+1393dupGAGAGAGAGAGAGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAP29_chr7_107575246_107625478	107591641	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp2 HG06807.hp1 HG02055.hp1 HG02965.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0007g0322 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0007g0322	3	300	0.0100	22	c.194 others(39): Show c.194-2298_194-2297insACACACACACACACACACACAC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(15): Show ACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18747.hp2 HG02132.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0159 a0001c0001t0003g0223 a0001c0001t0001g0159 a0001c0001t0003g0223	2	204	0.0098	22	c.194 others(39): Show c.194-2298_194-2297insACACACACACACACACACACCC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS1_chr20_53938541_54075594	54041908	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02922.hp2 HG02683.hp2 HG02922.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0020 a0007c0008t0008 a0001c0001t0020 a0007c0008t0008	a0001c0001t0020g0164 a0007c0008t0008g0196 a0001c0001t0020g0164 a0007c0008t0008g0196	2	238	0.0084	22	c.143 others(41): Show c.143-12937_143-12936insTTTTTTTTTTTTTTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	61045823	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0034 a0001c0004t0001g0034	1	41	0.0244	22	c.202 others(41): Show c.2029+4937_2029+4958dupCTCTCTCTCTCTCTCTCTCTCT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045849	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03139.hp2 HG02809.hp2 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0001 a0001c0004 a0003c0001	a0001c0004t0002 a0003c0001t0001 a0001c0004t0002 a0003c0001t0001	a0001c0004t0002g0050 a0003c0001t0001g0021 a0001c0004t0002g0050 a0003c0001t0001g0021	2	66	0.0303	22	c.202 others(41): Show c.2029+4958_2029+4959insCTCTCTCTCTCTCTCTCTCTAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61067273	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0052 a0002c0003t0001g0052	1	19	0.0526	22	c.203 others(41): Show c.2030-7625_2030-7604dupATATATATATATATATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61067273	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	19	0.0526	22	c.203 others(41): Show c.2030-7646_2030-7645insGTGTGTATATATATATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61285231	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0018 a0002c0005t0001g0018	1	36	0.0278	22	c.242 others(43): Show c.2426-83090_2426-83069dupGTGTGTGTGTGTGTGTGTGTGT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61375246	G G	GTGTGTGT others(15): Show GTGTGTGTGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0023 a0003c0010t0002g0023	1	51	0.0196	22	c.259 others(41): Show c.2593+6760_2593+6761insCGCGCGCGCGCACATGTGTGTG	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(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18990.hp1 NA18959.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0221 a0001c0001t0001g0019 a0001c0001t0001g0221	2	170	0.0118	22	c.280 others(39): Show c.280-5670_280-5669insATATATATATATTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24936712	A A	ATCTCTCT others(15): Show ATCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0269 a0001c0001t0081g0269	1	123	0.0081	22	c.6+1 others(37): Show c.6+12214_6+12215insGAGAGAGAGAGAGAGAGAGAGA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24951590	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	2	0.5000	22	c.-26 others(33): Show c.-2659_-2658insTTTTTTTTTTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding		2490		chr12	TogoVar
BCAT2_chr19_48790064_48816029	48811494	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	104	0.0096	22	c.-48 others(31): Show c.-488_-487insTTTTTTTTTTTTTTTTTTTTTT	BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding		466		chr19	TogoVar
BCKDHA_chr19_41392818_41430002	41412380	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03831.hp1 HG03834.hp1 others(5): Show HG03516.hp2 HG03831.hp1 HG03834.hp1 HG04184.hp1 HG06807.hp1 NA18945.hp2 NA18977.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0161 others(5): Show a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0161 a0001c0001t0001g0176 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0225 a0001c0001t0001g0237	8	137	0.0584	22	c.375 others(39): Show c.375+1389_375+1390insTTTTTTTTTTTTTTTTTTTTTT	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BCL11A_chr2_60452194_60558654	60490821	G G	GACAAATA others(15): Show GACAAATACCATTACTAAAAGGA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0207 a0001c0001t0057g0207	1	260	0.0038	22	c.386 others(41): Show c.386-21989_386-21988insTCCTTTTAGTAATGGTATTTGT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL11B_chr14_99164287_99277197	99217385	G G	GACACACA others(15): Show GACACACACACACATACAGACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00621.hp2 others(62): Show HG00423.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG01109.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02027.hp1 HG02056.hp2 HG02083.hp1 HG02165.hp1 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02622.hp2 HG02818.hp1 HG02970.hp2 HG03491.hp1 NA18942.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp2 NA19065.hp1 NA19079.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0003c0009 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0034 a0001c0001t0051 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0074 a0001c0001t0081 a0001c0001t0082 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0043 a0001c0002t0058 a0001c0002t0059 a0001c0003t0004 a0001c0008t0044 a0003c0009t0003 a0004c0010t0007	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(62): Show a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0058 a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0002g0119 a0001c0001t0002g0129 a0001c0001t0005g0308 a0001c0001t0005g0331 a0001c0001t0006g0017 a0001c0001t0006g0103 a0001c0001t0006g0106 a0001c0001t0007g0196 a0001c0001t0010g0060 a0001c0001t0011g0323 a0001c0001t0012g0149 a0001c0001t0034g0007 a0001c0001t0051g0128 a0001c0001t0055g0195 a0001c0001t0056g0273 a0001c0001t0057g0152 a0001c0001t0074g0340 a0001c0001t0081g0346 a0001c0001t0082g0347 a0001c0002t0003g0159 a0001c0002t0003g0193 a0001c0002t0003g0201 a0001c0002t0003g0205 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0003g0213 a0001c0002t0003g0286 a0001c0002t0004g0023 a0001c0002t0004g0031 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0081 a0001c0002t0004g0095 a0001c0002t0004g0130 a0001c0002t0008g0312 a0001c0002t0043g0111 a0001c0002t0058g0269 a0001c0002t0059g0244 a0001c0003t0004g0114 a0001c0008t0044g0089 a0003c0009t0003g0263 a0004c0010t0007g0287	65	244	0.2664	22	c.640 others(41): Show c.640+13959_640+13960insGTGTCTGTATGTGTGTGTGTGT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL2L10_chr15_52104263_52117775	52111173	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18984.hp2 HG00558.hp1 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0100 a0002c0002t0002g0073 a0002c0002t0001g0100 a0002c0002t0002g0073	2	68	0.0294	22	c.489 others(39): Show c.489+1043_489+1064dupGTGTGTGTGTGTGTGTGTGTGT	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding	1/1			chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(15): Show ATATATATATATATATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	219	0.0046	22	c.-43 others(33): Show c.-4377_-4376insATTATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	219	0.0046	22	c.-43 others(33): Show c.-4377_-4376insAAAAAAAATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0030 a0002c0002t0003g0030	1	219	0.0046	22	c.-43 others(33): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAAA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111169212	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0286 a0001c0001t0028g0286	1	158	0.0063	22	c.49 others(33): Show c.4981_*4982insGTGTGTGTGTGTGTGTGTGTGT	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding		769		chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17715170	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	251	0.0040	22	c.601 others(41): Show c.601-11506_601-11505insATATATATATATATATTTTTTT	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(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01168.hp1 HG01192.hp2 others(5): Show HG00323.hp1 HG01168.hp1 HG01192.hp2 HG01346.hp2 HG01496.hp1 HG01934.hp1 HG02300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0029 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0086	8	48	0.1667	22	c.565 others(39): Show c.565-1420_565-1399dupACACACACACACACACACACAC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31697890	C C	CTGTTTTT others(15): Show CTGTTTTTTTTTTTTTGTTTGTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	184	0.0054	22	c.564 others(41): Show c.564+23764_564+23765insAACAAACAAAAAAAAAAAAACA	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTGTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG01069.hp1 others(13): Show HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01169.hp2 HG01358.hp2 HG01884.hp2 HG02109.hp2 HG02738.hp2 HG02809.hp1 HG03041.hp2 HG03130.hp1 HG03516.hp1 HG03710.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181	16	82	0.1951	22	c.564 others(41): Show c.564+23762_564+23763insAAAACAAACAAAAAAAAAAAAA	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2_chr18_63118346_63324769	63169327	C C	CTTCCTTC others(15): Show CTTCCTTCCTCCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0231 a0001c0001t0007g0231	1	244	0.0041	22	c.586 others(41): Show c.586-40569_586-40568insAAAGAAAGGAAGGAGGAAGGAA	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63169369	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	183	0.0055	22	c.586 others(41): Show c.586-40611_586-40610insAAGAAAGAAAGAAAGAAAGAAA	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63266637	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCACACACACA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	227	0.0044	22	c.585 others(41): Show c.585+51444_585+51445insTGTGTGTGTGAGAGAGAGAGAG	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL7A_chr12_122016884_122067044	122023525	A A	AAAGTCCA others(15): Show AAAGTCCACGTGCTCCCCGGCGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0328 a0001c0002t0024g0328	1	360	0.0028	22	c.92+ others(37): Show c.92+1362_92+1363insGGAAGTCCACGTGCTCCCCGGC	BCL7A	ENSG00000110987.9	transcript	ENST00000261822.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar

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