Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
BRINP3_chr1_190092658_190482864	190457460	A A	AAAAACAA others(3): Show AAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00609.hp1 others(57): Show HG00323.hp1 HG00408.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01167.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01517.hp2 HG01934.hp1 HG02027.hp2 HG02055.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02523.hp2 HG02602.hp1 HG02738.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03927.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18957.hp2 NA18970.hp1 NA18971.hp2 NA18981.hp2 NA18987.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19054.hp2 NA19062.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp2 NA19083.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0001 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 others(57): Show a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0006g0012 a0001c0001t0009g0201	60	240	0.2500	10	c.-50 others(27): Show c.-50-2530_-50-2521dupGTTTTGTTTT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	1/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190472812	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02572.hp1 HG03704.hp1 HG01081.hp2 HG02572.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0202 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0002g0202 a0001c0001t0003g0006 a0001c0001t0003g0007	3	240	0.0125	10	c.-51 others(27): Show c.-51+4626_-51+4635dupGTGTGTGTGT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	1/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190482433	C C	CATATATA others(3): Show CATATATACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02886.hp2 HG03471.hp1 HG02723.hp1 HG02886.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0007g0198 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0007g0198	3	240	0.0125	10	c.-50 others(21): Show c.-5037_-5036insACGTATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding		4570		chr1	TogoVar
BRIP1_chr17_61674139_61868528	61689026	C C	CTGTTATG others(3): Show CTGTTATGTTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19009.hp2 HG02559.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0007 a0002c0003t0064 a0002c0002t0007 a0002c0003t0064	a0002c0002t0007g0225 a0002c0003t0064g0248 a0002c0002t0007g0225 a0002c0003t0064g0248	2	266	0.0075	10	c.257 others(29): Show c.2576-2871_2576-2862dupTAACATAACA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	18/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61765829	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG01167.hp1 others(15): Show HG00642.hp2 HG01081.hp2 HG01167.hp1 HG01175.hp2 HG01433.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02258.hp2 HG02293.hp2 HG02572.hp2 HG02602.hp2 HG02683.hp2 HG03225.hp1 HG03490.hp1 HG03704.hp2 NA18965.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0024 a0001c0001t0027 a0002c0002t0003 a0002c0002t0026 a0002c0002t0041 a0002c0003t0060	a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0063 others(15): Show a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0118 a0001c0001t0004g0173 a0001c0001t0004g0176 a0001c0001t0004g0180 a0001c0001t0004g0211 a0001c0001t0008g0247 a0001c0001t0011g0095 a0001c0001t0011g0103 a0001c0001t0024g0066 a0001c0001t0027g0194 a0002c0002t0003g0186 a0002c0002t0026g0112 a0002c0002t0041g0091 a0002c0003t0060g0178	18	266	0.0677	10	c.209 others(31): Show c.2097+10562_2097+10571dupTGTGTGTGTG	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61772208	T T	TATATATA others(3): Show TATATATATAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0064 a0002c0003t0064	a0002c0003t0064g0248 a0002c0003t0064g0248	1	266	0.0038	10	c.209 others(29): Show c.2097+4192_2097+4193insTTATATATAT	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61823763	C C	CACACACA others(3): Show CACACACACAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02738.hp1 HG02615.hp1 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0037 a0002c0003t0039 a0001c0001t0037 a0002c0003t0039	a0001c0001t0037g0033 a0002c0003t0039g0030 a0001c0001t0037g0033 a0002c0003t0039g0030	2	266	0.0075	10	c.628 others(29): Show c.628-15007_628-15006insATGTGTGTGT	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	6/19			chr17	TogoVar
BRK1_chr3_10110675_10132190	10111390	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01981.hp2 HG02055.hp1 others(6): Show HG01255.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02818.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0116 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0116 a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0063 a0001c0001t0002g0078 a0001c0001t0002g0089 a0001c0001t0002g0092	9	356	0.0253	10	c.-43 others(21): Show c.-4312_-4311insAAAAAAAAAA	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding		4284		chr3	TogoVar
BRK1_chr3_10110675_10132190	10112493	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01975.hp1 HG02630.hp1 others(9): Show HG01928.hp2 HG01975.hp1 HG02630.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG03239.hp1 HG04115.hp2 NA18522.hp2 NA18971.hp1 NA18988.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0070 others(8): Show a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0075 a0001c0001t0002g0090 a0001c0001t0002g0096 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0087 a0001c0001t0004g0098 a0001c0001t0005g0074	12	356	0.0337	10	c.-32 others(21): Show c.-3209_-3208insTTTTTTTTTT	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding		3181		chr3	TogoVar
BRK1_chr3_10110675_10132190	10131208	T T	TCCTCCTC others(3): Show TCCTCCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	356	0.0028	10	c.49 others(21): Show c.4913_*4914insCCTCCTCCTC	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding		4019		chr3	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTATATAT others(3): Show GTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG02056.hp1 HG02145.hp2 others(5): Show HG01175.hp2 HG02056.hp1 HG02145.hp2 HG03471.hp1 NA19002.hp1 NA19012.hp2 NA19058.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0207 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0247 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0275	8	374	0.0214	10	c.27 others(21): Show c.2712_*2713insTATATATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTGTGTAT others(3): Show GTGTGTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 NA19043.hp2 HG02970.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0115 a0001c0001t0001g0051 a0001c0001t0001g0115	2	374	0.0054	10	c.27 others(21): Show c.2712_*2713insTGTGTATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35873784	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01175.hp1 HG02015.hp1 others(26): Show HG00621.hp2 HG01175.hp1 HG02015.hp1 HG02071.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02886.hp1 HG03017.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 NA18945.hp2 NA18952.hp1 NA18952.hp2 NA18964.hp1 NA18967.hp2 NA18970.hp2 NA18984.hp1 NA18986.hp2 NA19003.hp1 NA19057.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0033 others(22): Show a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0276	29	374	0.0775	10	c.33 others(21): Show c.3307_*3308insAAAAAAAAAA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1822		chr14	TogoVar
BRMS1_chr11_66332339_66350104	66342056	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	424	0.0024	10	c.139 others(23): Show c.139+30_139+39dupCACACACACA	BRMS1	ENSG00000174744.14	transcript	ENST00000359957.8	protein_coding	2/9			chr11	TogoVar
BROX_chr1_222707564_222740187	222738564	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00735.hp2 HG01109.hp2 others(10): Show HG00438.hp1 HG00735.hp2 HG01109.hp2 HG01891.hp1 HG02257.hp1 HG02615.hp1 HG02647.hp1 HG02970.hp1 HG03453.hp2 HG06807.hp1 NA18522.hp1 NA19010.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 others(3): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 a0001c0001t0026 a0001c0002t0020 a0001c0004t0013	a0001c0001t0003g0016 a0001c0001t0003g0045 a0001c0001t0003g0123 others(9): Show a0001c0001t0003g0016 a0001c0001t0003g0045 a0001c0001t0003g0123 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0010g0120 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0014g0016 a0001c0001t0026g0023 a0001c0002t0020g0013 a0001c0004t0013g0133	13	386	0.0337	10	c.58 others(21): Show c.5850_*5851insAAAAAAAAAA	BROX	ENSG00000162819.12	transcript	ENST00000340934.10	protein_coding		3378		chr1	TogoVar
BRS3_chrX_136482947_136498780	136491913	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA19084.hp2 NA18991.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	2	280	0.0071	10	c.787 others(23): Show c.787-32_787-23dupTTTTTTTTTT	BRS3	ENSG00000102239.5	transcript	ENST00000370648.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
BRSK1_chr19_55278997_55317562	55307747	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02970.hp2 NA18906.hp1 others(1): Show HG02071.hp2 HG02970.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0137 a0001c0001t0003g0032 a0001c0001t0003g0081 others(1): Show a0001c0001t0001g0137 a0001c0001t0003g0032 a0001c0001t0003g0081 a0001c0001t0006g0190	4	338	0.0118	10	c.209 others(27): Show c.2090-860_2090-851dupCACACACACA	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK2_chr11_1384934_1467689	1444355	G G	GCAACCCA others(3): Show GCAACCCAAGT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	360	0.0028	10	c.781 others(25): Show c.781-616_781-615insCAACCCAAGT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	8/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1446359	A A	AGGGCTGG others(3): Show AGGGCTGGGCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	360	0.0028	10	c.122 others(27): Show c.1226+454_1226+463dupGGCTGGGCTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1466268	T T	TACACACA others(3): Show TACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	360	0.0028	10	c.55 others(21): Show c.5545_*5546insACACACACAC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding		3580		chr11	TogoVar
BRWD1_chr21_39180482_39318632	39185295	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01074.hp1 HG01256.hp2 others(5): Show HG00280.hp2 HG01074.hp1 HG01256.hp2 HG02896.hp2 HG03130.hp1 HG03239.hp1 NA18994.hp1 homoSapiens_chm13v2.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0003 a0003c0004 a0004c0003	a0003c0004t0005 a0003c0004t0014 a0003c0004t0019 others(1): Show a0003c0004t0005 a0003c0004t0014 a0003c0004t0019 a0004c0003t0008	a0003c0004t0005g0119 a0003c0004t0005g0124 a0003c0004t0005g0126 others(5): Show a0003c0004t0005g0119 a0003c0004t0005g0124 a0003c0004t0005g0126 a0003c0004t0005g0128 a0003c0004t0005g0129 a0003c0004t0014g0331 a0003c0004t0019g0077 a0004c0003t0008g0026	8	338	0.0237	10	c.10 others(23): Show c.10954_*10963dupTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding		186		chr21	TogoVar
BRWD1_chr21_39180482_39318632	39203438	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02717.hp2 NA18946.hp2 others(1): Show HG01433.hp1 HG02717.hp2 NA18946.hp2 NA19054.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0091 a0003c0004t0005g0122 a0003c0004t0005g0134 others(1): Show a0003c0004t0005g0091 a0003c0004t0005g0122 a0003c0004t0005g0134 a0003c0004t0005g0136	4	338	0.0118	10	c.436 others(27): Show c.4365-903_4365-894dupAAAAAAAAAA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	37/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39207451	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG01943.hp2 others(26): Show HG00544.hp1 HG00673.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02109.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02735.hp2 HG02738.hp1 HG02970.hp1 HG02976.hp2 HG03579.hp1 HG03831.hp2 HG04228.hp1 NA18522.hp2 NA18943.hp2 NA18963.hp2 NA18990.hp1 NA18992.hp1 NA19056.hp1 NA19056.hp2 NA19081.hp2 NA19086.hp1 NA19087.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0017	a0001c0001 a0001c0008 a0001c0026 others(3): Show a0001c0001 a0001c0008 a0001c0026 a0003c0005 a0005c0007 a0017c0023	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0015 a0001c0001t0041 a0001c0001t0061 a0001c0001t0064 a0001c0001t0073 a0001c0001t0074 a0001c0008t0003 a0001c0026t0067 a0003c0005t0043 a0005c0007t0021 a0005c0007t0038 a0017c0023t0009	a0001c0001t0002g0036 a0001c0001t0002g0053 a0001c0001t0002g0054 others(26): Show a0001c0001t0002g0036 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0003g0291 a0001c0001t0003g0298 a0001c0001t0003g0304 a0001c0001t0003g0317 a0001c0001t0003g0322 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0282 a0001c0001t0004g0284 a0001c0001t0009g0007 a0001c0001t0015g0254 a0001c0001t0015g0255 a0001c0001t0041g0139 a0001c0001t0061g0265 a0001c0001t0064g0258 a0001c0001t0073g0323 a0001c0001t0074g0338 a0001c0008t0003g0319 a0001c0026t0067g0302 a0003c0005t0043g0179 a0005c0007t0021g0173 a0005c0007t0038g0138 a0017c0023t0009g0014	29	338	0.0858	10	c.419 others(29): Show c.4198-1187_4198-1178dupGTGTGTGTGT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	36/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39217010	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0194 a0002c0002t0001g0194	1	338	0.0030	10	c.365 others(29): Show c.3659+1132_3659+1141dupATATATATAT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39241473	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA19011.hp1 HG02148.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0313 a0001c0001t0003g0315 a0001c0001t0003g0313 a0001c0001t0003g0315	2	338	0.0059	10	c.248 others(29): Show c.2482-2910_2482-2901dupTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	21/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39244921	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG02818.hp1 others(4): Show HG00280.hp1 HG00673.hp1 HG02818.hp1 HG03540.hp1 NA18994.hp2 NA19012.hp2 NA19067.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0004c0003 a0001c0001 a0001c0008 a0004c0003	a0001c0001t0004 a0001c0001t0062 a0001c0008t0003 others(2): Show a0001c0001t0004 a0001c0001t0062 a0001c0008t0003 a0004c0003t0025 a0004c0003t0026	a0001c0001t0004g0266 a0001c0001t0004g0276 a0001c0001t0004g0283 others(4): Show a0001c0001t0004g0266 a0001c0001t0004g0276 a0001c0001t0004g0283 a0001c0001t0062g0280 a0001c0008t0003g0319 a0004c0003t0025g0002 a0004c0003t0026g0001	7	338	0.0207	10	c.248 others(29): Show c.2481+2770_2481+2779dupATATATATAT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	21/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39286016	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(111): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00544.hp1 HG00597.hp1 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18950.hp2 NA18953.hp2 NA18956.hp2 NA18963.hp2 NA18967.hp2 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19011.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19077.hp1 NA19081.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp2 NA20300.hp2 NA21309.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0006 a0008 a0010 a0013 a0014 a0017	a0001c0001 a0001c0008 a0001c0022 others(9): Show a0001c0001 a0001c0008 a0001c0022 a0001c0026 a0003c0005 a0004c0003 a0006c0009 a0008c0027 a0010c0025 a0013c0024 a0014c0029 a0017c0023	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0034 a0001c0001t0037 a0001c0001t0045 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0008t0003 a0001c0022t0003 a0001c0026t0067 a0003c0005t0007 a0003c0005t0031 a0004c0003t0008 a0006c0009t0012 a0008c0027t0002 a0010c0025t0035 a0013c0024t0004 a0014c0029t0004 a0017c0023t0009	a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 others(111): Show a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0003g0270 a0001c0001t0003g0291 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0318 a0001c0001t0003g0322 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0277 a0001c0001t0004g0279 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0292 a0001c0001t0009g0003 a0001c0001t0009g0006 a0001c0001t0009g0007 a0001c0001t0009g0008 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0013 a0001c0001t0013g0172 a0001c0001t0013g0175 a0001c0001t0016g0335 a0001c0001t0016g0336 a0001c0001t0016g0337 a0001c0001t0018g0044 a0001c0001t0018g0052 a0001c0001t0034g0061 a0001c0001t0037g0068 a0001c0001t0045g0188 a0001c0001t0063g0290 a0001c0001t0064g0258 a0001c0001t0065g0259 a0001c0001t0066g0310 a0001c0001t0068g0309 a0001c0001t0071g0321 a0001c0001t0073g0323 a0001c0001t0074g0338 a0001c0001t0075g0271 a0001c0008t0003g0316 a0001c0022t0003g0326 a0001c0026t0067g0302 a0003c0005t0007g0100 a0003c0005t0007g0107 a0003c0005t0007g0109 a0003c0005t0031g0114 a0004c0003t0008g0029 a0006c0009t0012g0084 a0008c0027t0002g0059 a0010c0025t0035g0069 a0013c0024t0004g0256 a0014c0029t0004g0288 a0017c0023t0009g0014	114	338	0.3373	10	c.832 others(27): Show c.832-5778_832-5769dupAAAAAAAAAA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	8/40			chr21	TogoVar
BRWD3_chrX_80664503_80814877	80730389	A A	AAGAAAGA others(3): Show AAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0074 a0001c0001t0078g0074	1	265	0.0038	10	c.112 others(27): Show c.1128-370_1128-369insCTTTCTTTCT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	12/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80750857	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01981.hp2 HG03710.hp1 others(2): Show HG00639.hp1 HG01981.hp2 HG03710.hp1 HG03927.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0030 others(2): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0030 a0001c0001t0101 a0001c0001t0112	a0001c0001t0007g0066 a0001c0001t0010g0083 a0001c0001t0030g0052 others(2): Show a0001c0001t0007g0066 a0001c0001t0010g0083 a0001c0001t0030g0052 a0001c0001t0101g0157 a0001c0001t0112g0170	5	265	0.0189	10	c.431 others(27): Show c.431-5138_431-5129dupGTGTGTGTGT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	6/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80809759	A A	AAGAGAGA others(3): Show AAGAGAGAGAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0055 a0001c0001t0072g0055	1	265	0.0038	10	c.-29 others(19): Show c.-298_-289dupCTCTCTCTCT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	1/41	289		chrX	TogoVar
BRWD3_chrX_80664503_80814877	80809784	A A	AGAGAGAG others(3): Show AGAGAGAGACC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0006 a0001c0001t0047g0006	1	265	0.0038	10	c.-31 others(19): Show c.-314_-313insGGTCTCTCTC	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	1/41	314		chrX	TogoVar
BSCL2_chr11_62685275_62712424	62696276	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02970.hp2 HG02717.hp1 HG02970.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0027 a0002c0003t0002g0035 a0002c0003t0002g0027 a0002c0003t0002g0035	2	330	0.0061	10	c.487 others(27): Show c.487-1566_487-1565insCACACACACA	BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding	3/10			chr11	TogoVar
BSCL2_chr11_62685275_62712424	62696278	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG00639.hp2 others(39): Show HG00099.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG01109.hp1 HG01346.hp2 HG01928.hp2 HG02083.hp2 HG02155.hp2 HG02258.hp2 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03486.hp1 HG03516.hp2 HG03834.hp1 HG03942.hp1 NA18612.hp1 NA18939.hp1 NA18954.hp1 NA18973.hp2 NA18974.hp2 NA18983.hp1 NA18987.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19010.hp2 NA19055.hp1 NA19062.hp1 NA19066.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0023 others(30): Show a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0254 a0001c0001t0001g0269 a0002c0003t0002g0018 a0002c0003t0002g0032	42	330	0.1273	10	c.487 others(27): Show c.487-1577_487-1568dupCACACACACA	BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding	3/10			chr11	TogoVar
BSCL2_chr11_62685275_62712424	62696278	T T	TTTTGTGT others(3): Show TTTTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	330	0.0030	10	c.487 others(27): Show c.487-1568_487-1567insCACACACAAA	BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding	3/10			chr11	TogoVar
BSG_chr19_567596_588493	570682	G G	GGAGGGGC others(3): Show GGAGGGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03209.hp1 HG02055.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0165 a0001c0001t0003g0161 a0001c0001t0003g0165	2	306	0.0065	10	c.-19 others(21): Show c.-1953_-1952insGAGGGGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1913		chr19	TogoVar
BSG_chr19_567596_588493	576961	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02015.hp2 HG02698.hp2 others(2): Show HG01517.hp2 HG02015.hp2 HG02698.hp2 HG03942.hp2 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0020 a0001c0003t0004g0059 a0001c0003t0004g0071 others(1): Show a0001c0003t0004g0020 a0001c0003t0004g0059 a0001c0003t0004g0071 a0001c0003t0004g0159	5	306	0.0163	10	c.68- others(23): Show c.68-813_68-812insGTGTGTGTGT	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	1/8			chr19	TogoVar
BSG_chr19_567596_588493	586285	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00544.hp2 others(52): Show HG00099.hp2 HG00408.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG01099.hp2 HG01106.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02300.hp2 HG02630.hp1 HG02698.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03579.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18939.hp1 NA18952.hp2 NA18964.hp1 NA18970.hp2 NA18982.hp1 NA18994.hp2 NA18995.hp2 NA19007.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19091.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0021 a0016c0017	a0001c0001t0007 a0001c0001t0023 a0001c0002t0001 others(9): Show a0001c0001t0007 a0001c0001t0023 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0003t0006 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0021t0004 a0016c0017t0016	a0001c0001t0007g0112 a0001c0001t0023g0068 a0001c0002t0001g0001 others(37): Show a0001c0001t0007g0112 a0001c0001t0023g0068 a0001c0002t0001g0001 a0001c0002t0001g0012 a0001c0002t0001g0104 a0001c0002t0001g0110 a0001c0002t0001g0135 a0001c0002t0001g0143 a0001c0002t0001g0153 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0003t0001g0058 a0001c0003t0001g0082 a0001c0003t0004g0003 a0001c0003t0004g0008 a0001c0003t0004g0017 a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0033 a0001c0003t0004g0039 a0001c0003t0004g0052 a0001c0003t0004g0054 a0001c0003t0004g0056 a0001c0003t0004g0057 a0001c0003t0004g0059 a0001c0003t0004g0063 a0001c0003t0004g0067 a0001c0003t0004g0071 a0001c0003t0004g0159 a0001c0003t0004g0160 a0001c0003t0006g0003 a0001c0003t0008g0003 a0001c0003t0008g0064 a0001c0003t0009g0003 a0001c0003t0009g0037 a0001c0003t0010g0003 a0001c0003t0010g0053 a0001c0003t0014g0055 a0001c0021t0004g0065 a0016c0017t0016g0122	55	306	0.1797	10	c.35 others(21): Show c.3541_*3542insTTTTTTTTTT	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		2793		chr19	TogoVar
BSG_chr19_567596_588493	586828	A A	AAGGCACT others(3): Show AAGGCACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	306	0.0033	10	c.40 others(21): Show c.4084_*4085insAGGCACTGGG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		3336		chr19	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTCTTT others(3): Show CTTTCTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02630.hp2 HG02809.hp2 others(1): Show HG01243.hp2 HG02630.hp2 HG02809.hp2 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0086 a0002c0002t0093 a0002c0002t0034 a0002c0002t0086 a0002c0002t0093	a0002c0002t0034g0049 a0002c0002t0086g0087 a0002c0002t0093g0109 a0002c0002t0034g0049 a0002c0002t0086g0087 a0002c0002t0093g0109	4	448	0.0089	10	c.-23 others(21): Show c.-2350_-2349insTTTCTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSND_chr1_54993933_55022172	55001201	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0189 a0001c0001t0189	a0001c0001t0189g0119 a0001c0001t0189g0119	1	448	0.0022	10	c.177 others(27): Show c.177+1873_177+1882dupGTGTGTGTGT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
BSN_chr3_49549477_49676549	49587887	T T	TTTTTCTT others(3): Show TTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp2 others(30): Show HG00099.hp1 HG00140.hp1 HG00544.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG03834.hp1 NA18973.hp1 NA18973.hp2 NA18991.hp1 NA19003.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0009 a0010 a0019	a0001c0001 a0002c0002 a0002c0008 others(8): Show a0001c0001 a0002c0002 a0002c0008 a0003c0003 a0003c0004 a0004c0006 a0004c0022 a0007c0011 a0009c0012 a0010c0015 a0019c0038	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(11): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0005 a0002c0002t0016 a0002c0008t0001 a0003c0003t0004 a0003c0004t0023 a0004c0006t0002 a0004c0022t0002 a0007c0011t0001 a0009c0012t0005 a0010c0015t0002 a0019c0038t0027	a0001c0001t0002g0113 a0001c0001t0002g0151 a0001c0001t0002g0177 others(30): Show a0001c0001t0002g0113 a0001c0001t0002g0151 a0001c0001t0002g0177 a0001c0001t0003g0119 a0002c0002t0001g0053 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0005g0039 a0002c0002t0016g0040 a0002c0008t0001g0169 a0002c0008t0001g0173 a0003c0003t0004g0013 a0003c0003t0004g0014 a0003c0003t0004g0022 a0003c0004t0023g0045 a0004c0006t0002g0035 a0004c0006t0002g0037 a0004c0022t0002g0034 a0007c0011t0001g0067 a0009c0012t0005g0084 a0009c0012t0005g0085 a0010c0015t0002g0108 a0019c0038t0027g0003	33	186	0.1774	10	c.224 others(29): Show c.224+33096_224+33105dupCTTTTCTTTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49613303	C C	CGAGAGAG others(3): Show CGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01106.hp1 others(14): Show HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01167.hp1 HG01192.hp2 HG01981.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02922.hp1 HG03195.hp1 HG03834.hp2 NA18612.hp1 NA18991.hp1 NA19000.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0001 a0002c0002 a0003c0004 others(3): Show a0001c0001 a0002c0002 a0003c0004 a0005c0007 a0005c0032 a0011c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0030 a0002c0002t0001 a0003c0004t0004 a0003c0004t0006 a0005c0007t0034 a0005c0032t0007 a0011c0013t0013	a0001c0001t0002g0151 a0001c0001t0002g0178 a0001c0001t0003g0120 others(14): Show a0001c0001t0002g0151 a0001c0001t0002g0178 a0001c0001t0003g0120 a0001c0001t0007g0007 a0001c0001t0030g0121 a0002c0002t0001g0054 a0002c0002t0001g0070 a0002c0002t0001g0081 a0002c0002t0001g0083 a0003c0004t0004g0026 a0003c0004t0004g0038 a0003c0004t0006g0030 a0003c0004t0006g0031 a0003c0004t0006g0117 a0005c0007t0034g0004 a0005c0032t0007g0080 a0011c0013t0013g0050	17	186	0.0914	10	c.225 others(29): Show c.225-11635_225-11626dupGAGAGAGAGA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49617283	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA19043.hp1 HG01517.hp2 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0006 a0003c0004t0004 a0003c0004t0006	a0003c0004t0004g0028 a0003c0004t0006g0032 a0003c0004t0004g0028 a0003c0004t0006g0032	2	186	0.0108	10	c.225 others(27): Show c.225-7665_225-7656dupTATATATATA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49666899	G G	GGGCTTCC others(3): Show GGGCTTCCTGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02683.hp1 others(3): Show HG02451.hp2 HG02486.hp1 HG02683.hp1 HG02895.hp1 HG03130.hp2 NA20300.hp2	a0005 a0019 a0005 a0019	a0005c0007 a0005c0032 a0005c0034 others(1): Show a0005c0007 a0005c0032 a0005c0034 a0019c0038	a0005c0007t0007 a0005c0007t0033 a0005c0007t0034 others(3): Show a0005c0007t0007 a0005c0007t0033 a0005c0007t0034 a0005c0032t0007 a0005c0034t0015 a0019c0038t0027	a0005c0007t0007g0002 a0005c0007t0033g0005 a0005c0007t0034g0004 others(3): Show a0005c0007t0007g0002 a0005c0007t0033g0005 a0005c0007t0034g0004 a0005c0032t0007g0080 a0005c0034t0015g0001 a0019c0038t0027g0003	6	186	0.0323	10	c.10 others(27): Show c.105-683_*105-674dupTGCGGCTTCC	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49673087	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG02698.hp2 others(1): Show HG01074.hp1 HG01074.hp2 HG02698.hp2 HG03516.hp1	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0001 a0003c0003 a0016c0026 a0001c0001 a0003c0003 a0016c0026	a0001c0001t0002 a0003c0003t0004 a0016c0026t0002 a0001c0001t0002 a0003c0003t0004 a0016c0026t0002	a0001c0001t0002g0104 a0003c0003t0004g0017 a0003c0003t0004g0019 others(1): Show a0001c0001t0002g0104 a0003c0003t0004g0017 a0003c0003t0004g0019 a0016c0026t0002g0100	4	186	0.0215	10	c.56 others(21): Show c.5602_*5603insTTTTTTTTTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding		1539		chr3	TogoVar
BSPH1_chr19_47963046_47997170	47963893	C C	CTTTCTTT others(3): Show CTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG02615.hp2 HG03491.hp2 others(5): Show HG00621.hp1 HG02615.hp2 HG03491.hp2 HG03688.hp1 NA18944.hp2 NA18987.hp1 NA18987.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0007 a0001c0001t0001g0093 a0001c0001t0001g0135 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0093 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0242 a0001c0001t0001g0252 a0001c0001t0001g0262 a0002c0002t0002g0070	8	444	0.0180	10	c.43 others(21): Show c.4318_*4319insAGAAAAGAAA	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding		4152		chr19	TogoVar
BSPH1_chr19_47963046_47997170	47969684	G G	GGAGAGAG others(3): Show GGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp1 HG01175.hp2 others(10): Show HG00544.hp1 HG00735.hp1 HG01175.hp2 HG02293.hp1 HG02738.hp2 HG02896.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03516.hp1 NA18983.hp1 NA19043.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0003c0005t0001	a0001c0001t0001g0136 a0001c0001t0001g0190 a0001c0001t0001g0250 others(10): Show a0001c0001t0001g0136 a0001c0001t0001g0190 a0001c0001t0001g0250 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0363 a0001c0001t0001g0391 a0002c0002t0001g0053 a0002c0003t0001g0411 a0003c0005t0001g0426 a0003c0005t0001g0427	13	444	0.0293	10	c.3- others(25): Show c.3-1485_*3-1476dupTCTCTCTCTC	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BSPH1_chr19_47963046_47997170	47969725	G G	GAGAGAGA others(3): Show GAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0393 a0001c0001t0001g0393	1	444	0.0023	10	c.3- others(25): Show c.3-1517_*3-1516insGTCTCTCTCT	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BSPH1_chr19_47963046_47997170	47978001	G G	GATATATA others(3): Show GATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG00741.hp2 others(21): Show HG00099.hp2 HG00741.hp1 HG00741.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01261.hp2 HG01515.hp2 HG01517.hp1 HG01975.hp2 HG02109.hp1 HG02109.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02922.hp1 HG03831.hp2 NA18948.hp1 NA19010.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0079 a0001c0001t0001g0080 others(20): Show a0001c0001t0001g0008 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0118 a0001c0001t0001g0261 a0001c0001t0001g0299 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0347 a0001c0001t0002g0104 a0001c0001t0002g0205 a0001c0001t0002g0217 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0353 a0002c0002t0001g0072 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0003t0001g0410	24	444	0.0541	10	c.125 others(25): Show c.125-507_125-498dupATATATATAT	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	3/5			chr19	TogoVar
BSPRY_chr9_113344541_113376222	113352480	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG03130.hp2 others(3): Show HG02559.hp1 HG02572.hp1 HG03130.hp2 HG03654.hp2 HG03942.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0005g0223 others(2): Show a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0005g0223 a0001c0002t0001g0206 a0001c0002t0002g0044	6	448	0.0134	10	c.202 others(27): Show c.202-1746_202-1737dupCACACACACA	BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar

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