Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
BRME1_chr19_13877348_13911117	13891135	T T	TTTTTTAT others(11): Show TTTTTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01257.hp2 HG02027.hp2 others(14): Show HG00140.hp2 HG01257.hp2 HG02027.hp2 HG02145.hp2 HG02486.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02897.hp1 HG02976.hp1 HG03041.hp2 HG03453.hp1 HG03471.hp2 NA18950.hp2 NA18977.hp1 NA19030.hp2 NA19066.hp2	a0002 a0004 a0007 others(1): Show a0002 a0004 a0007 a0010	a0002c0002 a0002c0003 a0004c0005 others(2): Show a0002c0002 a0002c0003 a0004c0005 a0007c0012 a0010c0008	a0002c0002t0002 a0002c0003t0002 a0004c0005t0005 others(2): Show a0002c0002t0002 a0002c0003t0002 a0004c0005t0005 a0007c0012t0008 a0010c0008t0002	a0002c0002t0002g0013 a0002c0002t0002g0058 a0002c0002t0002g0080 others(12): Show a0002c0002t0002g0013 a0002c0002t0002g0058 a0002c0002t0002g0080 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0106 a0002c0003t0002g0056 a0002c0003t0002g0066 a0002c0003t0002g0067 a0004c0005t0005g0049 a0007c0012t0008g0061 a0007c0012t0008g0102 a0010c0008t0002g0098	17	195	0.0872	18	c.394 others(33): Show c.394-674_394-673insTAATAATAATAATAAAAA	BRME1	ENSG00000132016.12	transcript	ENST00000586783.6	protein_coding	5/8			chr19	TogoVar
BRME1_chr19_13877348_13911117	13891135	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTATTATTA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0193 a0002c0002t0004g0193	1	179	0.0056	18	c.394 others(33): Show c.394-674_394-673insTAATAATAAAAAAAAAAA	BRME1	ENSG00000132016.12	transcript	ENST00000586783.6	protein_coding	5/8			chr19	TogoVar
BRME1_chr19_13877348_13911117	13896609	T T	TATACATA others(11): Show TATACATATGTATTTATAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp2 NA20129.hp2 HG02559.hp2 HG03209.hp2 NA20129.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0033 a0005c0007t0002g0034 a0005c0007t0002g0035 a0005c0007t0002g0033 a0005c0007t0002g0034 a0005c0007t0002g0035	3	320	0.0094	18	c.32- others(33): Show c.32-1081_32-1064dupGTATAAATACATATGTAT	BRME1	ENSG00000132016.12	transcript	ENST00000586783.6	protein_coding	2/8			chr19	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTATATAT others(11): Show GTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	25	0.0400	18	c.27 others(29): Show c.2712_*2713insTATATATATATATATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0026 a0001c0001t0006g0026	1	25	0.0400	18	c.27 others(29): Show c.2712_*2713insTGTATATATATATATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTGTATGT others(11): Show GTGTATGTGTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	25	0.0400	18	c.27 others(29): Show c.2712_*2713insTGTATGTGTATATATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA18995.hp2 HG02257.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0124 a0001c0001t0001g0131	2	26	0.0769	18	c.27 others(29): Show c.2712_*2713insTGTGTGTATATATATATA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1227		chr14	TogoVar
BRSK2_chr11_1384934_1467689	1466268	T T	TACACACA others(11): Show TACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00741.hp1 others(10): Show HG00280.hp1 HG00323.hp2 HG00741.hp1 HG01081.hp2 HG01261.hp2 HG02145.hp2 HG02602.hp1 HG03130.hp1 HG03942.hp1 HG04228.hp2 NA19054.hp1 NA19079.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0021 a0001c0001t0036 a0001c0001t0067 a0001c0001t0077	a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0191 others(10): Show a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0191 a0001c0001t0003g0235 a0001c0001t0003g0263 a0001c0001t0018g0140 a0001c0001t0018g0331 a0001c0001t0021g0205 a0001c0001t0021g0225 a0001c0001t0021g0240 a0001c0001t0036g0303 a0001c0001t0067g0247 a0001c0001t0077g0321	13	158	0.0823	18	c.55 others(29): Show c.5545_*5546insACACACACACACACACAC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding		3580		chr11	TogoVar
BRWD1_chr21_39180482_39318632	39185295	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0017 a0004c0003t0017	a0004c0003t0017g0014 a0004c0003t0017g0014	1	56	0.0179	18	c.10 others(31): Show c.10946_*10963dupTTTTTTTTTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding		186		chr21	TogoVar
BRWD1_chr21_39180482_39318632	39203438	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0019 a0003c0004t0019	a0003c0004t0019g0077 a0003c0004t0019g0077	1	167	0.0060	18	c.436 others(35): Show c.4365-911_4365-894dupAAAAAAAAAAAAAAAAAA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	37/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39207451	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp2 HG01192.hp1 others(5): Show HG01070.hp2 HG01081.hp2 HG01192.hp1 HG01884.hp1 HG02132.hp2 HG02148.hp1 NA18994.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0001c0001t0065 a0003c0004t0005 others(2): Show a0001c0001t0003 a0001c0001t0065 a0003c0004t0005 a0003c0004t0014 a0003c0004t0030	a0001c0001t0003g0292 a0001c0001t0003g0313 a0001c0001t0065g0255 others(5): Show a0001c0001t0003g0292 a0001c0001t0003g0313 a0001c0001t0065g0255 a0003c0004t0005g0135 a0003c0004t0005g0137 a0003c0004t0014g0330 a0003c0004t0014g0331 a0003c0004t0030g0136	8	83	0.0964	18	c.419 others(37): Show c.4198-1195_4198-1178dupGTGTGTGTGTGTGTGTGT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	36/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39244921	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01123.hp2 HG02040.hp2 others(18): Show HG00741.hp1 HG01123.hp2 HG02040.hp2 HG02735.hp2 HG02809.hp1 HG03195.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03669.hp2 HG04199.hp1 NA18747.hp2 NA18943.hp1 NA18950.hp1 NA18952.hp1 NA18974.hp1 NA18982.hp2 NA19006.hp1 NA19007.hp1 NA19060.hp1 NA20300.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0001c0020 a0004c0003 others(2): Show a0001c0001 a0001c0020 a0004c0003 a0004c0006 a0010c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015 a0001c0001t0064 a0001c0001t0071 a0001c0020t0003 a0004c0003t0006 a0004c0003t0055 a0004c0003t0058 a0004c0006t0006 a0004c0006t0060 a0010c0012t0059	a0001c0001t0002g0064 a0001c0001t0003g0303 a0001c0001t0003g0306 others(18): Show a0001c0001t0002g0064 a0001c0001t0003g0303 a0001c0001t0003g0306 a0001c0001t0003g0326 a0001c0001t0011g0071 a0001c0001t0015g0263 a0001c0001t0064g0254 a0001c0001t0071g0323 a0001c0020t0003g0327 a0004c0003t0006g0143 a0004c0003t0006g0148 a0004c0003t0006g0153 a0004c0003t0006g0155 a0004c0003t0006g0161 a0004c0003t0006g0163 a0004c0003t0006g0168 a0004c0003t0055g0140 a0004c0003t0058g0146 a0004c0006t0006g0166 a0004c0006t0060g0149 a0010c0012t0059g0160	21	92	0.2283	18	c.248 others(37): Show c.2481+2762_2481+2779dupATATATATATATATATAT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	21/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39248641	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0209 a0002c0002t0022g0209	1	12	0.0833	18	c.235 others(35): Show c.2350-827_2350-810dupTTTTTTTTTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	20/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39313354	G G	GGCCCGGG others(11): Show GGCCCGGGGAGCCGGGGGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0012 a0006c0009t0012	a0006c0009t0012g0083 a0006c0009t0012g0083	1	304	0.0033	18	c.50- others(29): Show c.50-56_50-55insTCCCCCGGCTCCCCGGGC	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	1/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39313589	G G	GCGCCGCC others(11): Show GCGCCGCCGCCGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0338 a0001c0001t0074g0338	1	109	0.0092	18	c.-11 others(26): Show c.-116_-99dupGCGGCGGCGGCGGCGGCG	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	1/41	99		chr21	TogoVar
BRWD3_chrX_80664503_80814877	80700433	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp1 HG01099.hp1 others(52): Show HG00597.hp1 HG01081.hp1 HG01099.hp1 HG01192.hp1 HG01515.hp1 HG01517.hp2 HG02071.hp1 HG02080.hp1 HG02165.hp2 HG02257.hp2 HG02683.hp1 HG02735.hp1 HG02809.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18975.hp2 NA18980.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp2 NA19043.hp1 NA19055.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19078.hp1 NA19084.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(18): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0020 a0001c0001t0025 a0001c0001t0030 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0001t0052 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0001c0001t0061 a0001c0001t0064 a0001c0001t0071 a0001c0001t0075 a0001c0001t0090 a0001c0001t0095 a0001c0001t0096	a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 others(51): Show a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0034 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0006g0115 a0001c0001t0006g0123 a0001c0001t0006g0124 a0001c0001t0007g0148 a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0011g0073 a0001c0001t0011g0074 a0001c0001t0011g0075 a0001c0001t0011g0076 a0001c0001t0011g0077 a0001c0001t0020g0001 a0001c0001t0020g0057 a0001c0001t0025g0174 a0001c0001t0025g0175 a0001c0001t0025g0176 a0001c0001t0030g0040 a0001c0001t0030g0041 a0001c0001t0042g0004 a0001c0001t0046g0031 a0001c0001t0047g0023 a0001c0001t0052g0037 a0001c0001t0054g0047 a0001c0001t0057g0059 a0001c0001t0058g0065 a0001c0001t0061g0141 a0001c0001t0064g0142 a0001c0001t0071g0168 a0001c0001t0075g0172 a0001c0001t0090g0224 a0001c0001t0095g0238 a0001c0001t0096g0244	55	57	0.9649	18	c.283 others(35): Show c.2836-370_2836-369insATATATATATATATATAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	24/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80730389	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	50	0.0200	18	c.112 others(35): Show c.1128-370_1128-369insCTTTCTTTCTTTCTTTCT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	12/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80809754	G G	GAGAGAGA others(11): Show GAGAGAGAAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0031 a0001c0001t0046g0031	1	147	0.0068	18	c.-28 others(27): Show c.-284_-283insTCTCTCTCTCTTCTCTCT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	1/41	284		chrX	TogoVar
BSG_chr19_567596_588493	570772	G G	GGGGTGAG others(11): Show GGGGTGAGTGGGGGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 NA19082.hp1 HG03209.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0006 a0001c0001t0002 a0001c0003t0006	a0001c0001t0002g0011 a0001c0003t0006g0003 a0001c0001t0002g0011 a0001c0003t0006g0003	2	148	0.0135	18	c.-18 others(29): Show c.-1863_-1862insGGGTGAGTGGGGGGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1823		chr19	TogoVar
BSG_chr19_567596_588493	573068	T T	TTTCCCGG others(11): Show TTTCCCGGCGGAGGTTGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00621.hp2 others(47): Show HG00099.hp2 HG00544.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01243.hp2 HG01256.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02129.hp2 HG02145.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18939.hp1 NA18970.hp2 NA18998.hp2 NA19007.hp1 NA19066.hp2 NA19074.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 others(1): Show a0001c0001 a0001c0003 a0001c0010 a0001c0015	a0001c0001t0003 a0001c0001t0023 a0001c0003t0001 others(8): Show a0001c0001t0003 a0001c0001t0023 a0001c0003t0001 a0001c0003t0004 a0001c0003t0006 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0010t0001 a0001c0015t0004	a0001c0001t0003g0051 a0001c0001t0003g0069 a0001c0001t0023g0068 others(29): Show a0001c0001t0003g0051 a0001c0001t0003g0069 a0001c0001t0023g0068 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0004g0003 a0001c0003t0004g0008 a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0040 a0001c0003t0004g0052 a0001c0003t0004g0053 a0001c0003t0004g0056 a0001c0003t0004g0057 a0001c0003t0004g0058 a0001c0003t0004g0060 a0001c0003t0004g0062 a0001c0003t0004g0067 a0001c0003t0004g0071 a0001c0003t0006g0003 a0001c0003t0006g0039 a0001c0003t0006g0059 a0001c0003t0006g0061 a0001c0003t0008g0003 a0001c0003t0008g0063 a0001c0003t0009g0003 a0001c0003t0009g0038 a0001c0003t0010g0003 a0001c0003t0010g0055 a0001c0003t0014g0054 a0001c0010t0001g0070 a0001c0015t0004g0064	50	304	0.1645	18	c.67+ others(31): Show c.67+367_67+368insTTCCCGGCGGAGGTTGAG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	1/8			chr19	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03453.hp1 HG03540.hp1 others(2): Show HG02055.hp1 HG03453.hp1 HG03540.hp1 HG03831.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0063 a0001c0001t0103 others(2): Show a0001c0001t0038 a0001c0001t0063 a0001c0001t0103 a0001c0001t0168 a0001c0001t0245	a0001c0001t0038g0014 a0001c0001t0063g0043 a0001c0001t0103g0014 others(2): Show a0001c0001t0038g0014 a0001c0001t0063g0043 a0001c0001t0103g0014 a0001c0001t0168g0037 a0001c0001t0245g0069	5	282	0.0177	18	c.-23 others(29): Show c.-2350_-2349insTTTTTTTTTTTTTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSN_chr3_49549477_49676549	49613303	C C	CGAGAGAG others(11): Show CGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01071.hp2 others(8): Show HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01515.hp1 HG01517.hp1 HG01981.hp2 HG02615.hp1 HG02922.hp2 HG03225.hp2 HG03834.hp1	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0001 a0002c0002 a0002c0008 others(2): Show a0001c0001 a0002c0002 a0002c0008 a0002c0018 a0016c0026	a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0002c0002t0001 a0002c0008t0001 a0002c0018t0001 a0016c0026t0002	a0001c0001t0002g0111 a0001c0001t0003g0121 a0001c0001t0020g0108 others(8): Show a0001c0001t0002g0111 a0001c0001t0003g0121 a0001c0001t0020g0108 a0002c0002t0001g0070 a0002c0002t0001g0169 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0008t0001g0168 a0002c0008t0001g0172 a0002c0018t0001g0010 a0016c0026t0002g0099	11	26	0.4231	18	c.225 others(37): Show c.225-11643_225-11626dupGAGAGAGAGAGAGAGAGA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49673087	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01167.hp2 HG02004.hp1 others(1): Show HG01081.hp2 HG01167.hp2 HG02004.hp1 NA19012.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0027 a0008c0014 a0001c0001 a0001c0027 a0008c0014	a0001c0001t0002 a0001c0001t0003 a0001c0027t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0027t0003 a0008c0014t0009	a0001c0001t0002g0176 a0001c0001t0003g0131 a0001c0027t0003g0185 others(1): Show a0001c0001t0002g0176 a0001c0001t0003g0131 a0001c0027t0003g0185 a0008c0014t0009g0041	4	26	0.1538	18	c.56 others(29): Show c.5602_*5603insTTTTTTTTTTTTTTTTTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding		1539		chr3	TogoVar
BSN_chr3_49549477_49676549	49673801	C C	CCTCACGC others(11): Show CCTCACGCTCACGCTCACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01168.hp2 HG01257.hp1 others(2): Show HG01081.hp1 HG01168.hp2 HG01257.hp1 HG01258.hp1 NA18612.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0012 a0002c0002 a0009c0012	a0002c0002t0001 a0002c0002t0005 a0009c0012t0005 a0002c0002t0001 a0002c0002t0005 a0009c0012t0005	a0002c0002t0001g0087 a0002c0002t0005g0061 a0002c0002t0005g0073 others(2): Show a0002c0002t0001g0087 a0002c0002t0005g0061 a0002c0002t0005g0073 a0009c0012t0005g0083 a0009c0012t0005g0084	5	92	0.0543	18	c.63 others(29): Show c.6316_*6317insCTCACGCTCACGCTCACG	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding		2253		chr3	TogoVar
BSPH1_chr19_47963046_47997170	47969684	G G	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02132.hp1 HG02132.hp2 others(14): Show HG02004.hp2 HG02132.hp1 HG02132.hp2 HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG03453.hp1 HG03579.hp1 NA18612.hp2 NA18961.hp1 NA18992.hp1 NA19003.hp1 NA19030.hp1 NA19030.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0002c0003t0001	a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0126 others(14): Show a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0196 a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0001g0290 a0001c0001t0001g0329 a0001c0001t0003g0147 a0001c0001t0003g0152 a0001c0001t0003g0154 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0064 a0002c0002t0001g0080 a0002c0002t0003g0084 a0002c0003t0001g0401	17	81	0.2099	18	c.3- others(33): Show c.3-1493_*3-1476dupTCTCTCTCTCTCTCTCTC	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BSPH1_chr19_47963046_47997170	47969684	G G	GGGGAGAG others(11): Show GGGGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	65	0.0154	18	c.3- others(33): Show c.3-1476_*3-1475insTCTCTCTCTCTCTCTCCC	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BSPRY_chr9_113344541_113376222	113352480	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02723.hp1 NA18987.hp2 others(2): Show HG01433.hp1 HG02723.hp1 NA18987.hp2 NA19065.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0005t0030	a0001c0001t0001g0211 a0001c0001t0005g0046 a0001c0001t0009g0198 others(1): Show a0001c0001t0001g0211 a0001c0001t0005g0046 a0001c0001t0009g0198 a0001c0005t0030g0212	5	230	0.0217	18	c.202 others(35): Show c.202-1754_202-1737dupCACACACACACACACACA	BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
BST1_chr4_15698065_15737787	15698713	G G	GTATATAT others(11): Show GTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 NA18952.hp2 NA18965.hp2 others(2): Show HG02083.hp2 NA18952.hp2 NA18965.hp2 NA18990.hp2 NA19010.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0007 a0003c0003t0002 a0001c0001t0001 a0002c0002t0007 a0003c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0059 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0059 a0002c0002t0007g0167 a0003c0003t0002g0088	5	41	0.1220	18	c.-44 others(29): Show c.-4432_-4431insTATATATATATATATATA	BST1	ENSG00000109743.11	transcript	ENST00000265016.9	protein_coding		4351		chr4	TogoVar
BST2_chr19_17397939_17410630	17410496	T T	TTATATAT others(11): Show TTATATATGTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02717.hp2 HG02723.hp2 others(2): Show HG02257.hp1 HG02717.hp2 HG02723.hp2 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0005g0008 a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0005g0008	5	387	0.0129	18	c.-49 others(29): Show c.-4922_-4921insTATATATATACATATATA	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4867		chr19	TogoVar
BST2_chr19_17397939_17410630	17410497	C C	CATATATA others(11): Show CATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18975.hp1 NA18971.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	103	0.0194	18	c.-49 others(29): Show c.-4940_-4923dupATATATATATATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4868		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(11): Show TATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	260	0.0038	18	c.-49 others(29): Show c.-4955_-4954insGTATATATATATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410593	C C	CATATATA others(11): Show CATATATATATACACGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02451.hp1 others(7): Show HG01884.hp2 HG01891.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02630.hp2 HG03209.hp2 NA19030.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0001 a0001c0001t0004 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0004g0005 a0001c0001t0004g0012 others(2): Show a0001c0001t0001g0001 a0001c0001t0004g0005 a0001c0001t0004g0012 a0001c0001t0004g0017 a0001c0001t0013g0027	10	383	0.0261	18	c.-50 others(29): Show c.-5019_-5018insATACGTGTATATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4964		chr19	TogoVar
BSX_chr11_122972570_122986834	122983523	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	26	0.0385	18	c.-18 others(29): Show c.-1853_-1852insTCTTTTCTTTCTTTCTTT	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding		1690		chr11	TogoVar
BTAF1_chr10_91918770_92036437	91925516	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20905.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0312 a0001c0001t0003g0231 a0001c0001t0003g0312	2	152	0.0132	18	c.14+ others(33): Show c.14+1439_14+1440insTTTTTTTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91991265	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02132.hp2 HG00735.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0290 a0001c0001t0002g0176 a0001c0001t0002g0290	2	194	0.0103	18	c.285 others(35): Show c.2855-849_2855-848insTATATATATATATATATA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91991832	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0142 a0001c0001t0005g0142	1	15	0.0667	18	c.285 others(35): Show c.2855-286_2855-285insTATATATATATATATACA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92032009	C C	CTTCTTTT others(11): Show CTTCTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01255.hp2 HG01261.hp2 others(10): Show HG01175.hp2 HG01255.hp2 HG01261.hp2 HG02040.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG04199.hp2 NA18974.hp1 NA18981.hp2 NA19003.hp2 NA20805.hp1 NA20805.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0015 a0008c0009 a0001c0001 a0005c0015 a0008c0009	a0001c0001t0003 a0005c0015t0003 a0008c0009t0003 a0001c0001t0003 a0005c0015t0003 a0008c0009t0003	a0001c0001t0003g0153 a0001c0001t0003g0161 a0001c0001t0003g0177 others(10): Show a0001c0001t0003g0153 a0001c0001t0003g0161 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0185 a0001c0001t0003g0195 a0001c0001t0003g0215 a0001c0001t0003g0219 a0001c0001t0003g0223 a0001c0001t0003g0226 a0001c0001t0003g0312 a0005c0015t0003g0227 a0008c0009t0003g0211	13	28	0.4643	18	c.30 others(29): Show c.3076_*3077insTTCTTTTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding		573		chr10	TogoVar
BTBD16_chr10_122266296_122343159	122272678	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0320 a0004c0005t0001g0320	1	167	0.0060	18	c.-43 others(35): Show c.-43+1176_-43+1193dupCACACACACACACACACA	BTBD16	ENSG00000138152.10	transcript	ENST00000260723.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD16_chr10_122266296_122343159	122273221	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG01192.hp1 others(20): Show HG01081.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01934.hp2 HG02055.hp1 HG02056.hp2 HG02132.hp2 HG02135.hp2 HG02723.hp1 HG03669.hp2 HG03831.hp1 HG03927.hp2 NA18906.hp2 NA18946.hp2 NA18963.hp1 NA19003.hp1 NA19056.hp2 NA19079.hp2 NA19085.hp2 NA19091.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0002c0002 a0002c0025 others(6): Show a0001c0001 a0002c0002 a0002c0025 a0004c0005 a0004c0012 a0005c0004 a0006c0037 a0007c0006 a0007c0026	a0001c0001t0001 a0002c0002t0001 a0002c0025t0001 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0025t0001 a0004c0005t0001 a0004c0012t0001 a0005c0004t0001 a0006c0037t0001 a0007c0006t0001 a0007c0026t0001	a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0133 others(18): Show a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0140 a0002c0002t0001g0014 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0025t0001g0128 a0004c0005t0001g0015 a0004c0005t0001g0138 a0004c0005t0001g0139 a0004c0012t0001g0078 a0005c0004t0001g0132 a0005c0004t0001g0136 a0006c0037t0001g0141 a0007c0006t0001g0129 a0007c0006t0001g0131 a0007c0006t0001g0134 a0007c0006t0001g0135 a0007c0006t0001g0137 a0007c0026t0001g0126	23	86	0.2674	18	c.-43 others(35): Show c.-43+1715_-43+1732dupTATATATATATATATATA	BTBD16	ENSG00000138152.10	transcript	ENST00000260723.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD16_chr10_122266296_122343159	122279511	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG01081.hp2 others(9): Show HG00544.hp1 HG00735.hp2 HG01081.hp2 HG02129.hp1 HG02683.hp1 HG03041.hp2 HG03654.hp1 HG04228.hp2 NA18974.hp2 NA18978.hp2 NA18995.hp1 NA19087.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0005c0004	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0005c0004t0001	a0001c0001t0001g0017 a0001c0001t0001g0172 a0001c0001t0001g0173 others(8): Show a0001c0001t0001g0017 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0304 a0004c0005t0001g0158 a0005c0004t0001g0159 a0005c0004t0001g0176	12	17	0.7059	18	c.167 others(35): Show c.167+2590_167+2607dupCACACACACACACACACA	BTBD16	ENSG00000138152.10	transcript	ENST00000260723.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD17_chr17_74351416_74366868	74364473	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00544.hp1 others(62): Show HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG01123.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01515.hp1 HG01934.hp2 HG02015.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02148.hp2 HG02451.hp1 HG02683.hp1 HG02922.hp2 HG02965.hp1 HG03471.hp1 HG03491.hp1 HG03669.hp2 HG03834.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18941.hp1 NA18945.hp2 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18973.hp1 NA18974.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp1 NA19010.hp1 NA19012.hp2 NA19057.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19079.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0012 a0002c0002 others(1): Show a0001c0001 a0001c0012 a0002c0002 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0012t0001 a0002c0002t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0087 a0001c0001t0002g0028 a0001c0001t0003g0009 a0001c0012t0001g0054 a0002c0002t0001g0004 a0002c0002t0001g0057 a0007c0010t0001g0052	65	135	0.4815	18	c.-26 others(29): Show c.-2655_-2654insACACACACACACACACAC	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		2606		chr17	TogoVar
BTBD17_chr17_74351416_74366868	74364474	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG03098.hp1 HG03098.hp2 others(2): Show HG01106.hp1 HG03098.hp1 HG03098.hp2 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0007 a0001c0001t0001g0021	5	442	0.0113	18	c.-26 others(29): Show c.-2656_-2655insTACACACACACACACACA	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		2607		chr17	TogoVar
BTBD17_chr17_74351416_74366868	74365044	C C	CATATATA others(11): Show CATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00558.hp1 others(50): Show HG00099.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01257.hp1 HG01516.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02074.hp2 HG02135.hp2 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02602.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03239.hp1 HG03491.hp2 HG03669.hp1 HG03669.hp2 HG03927.hp1 HG03942.hp2 HG04228.hp2 HG06807.hp1 NA18956.hp1 NA18961.hp2 NA18972.hp1 NA18980.hp2 NA18981.hp1 NA18985.hp1 NA18985.hp2 NA18995.hp2 NA19002.hp2 NA19030.hp2 NA19054.hp1 NA19066.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0002g0002 a0001c0001t0002g0032 a0001c0001t0003g0010 a0001c0001t0003g0030 a0001c0001t0003g0086 a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0039 a0002c0002t0001g0057	53	140	0.3786	18	c.-32 others(29): Show c.-3226_-3225insATATATATATATATATAT	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		3177		chr17	TogoVar
BTBD17_chr17_74351416_74366868	74365044	C C	CATATATG others(11): Show CATATATGTATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	88	0.0114	18	c.-32 others(29): Show c.-3226_-3225insATATATATATACATATAT	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		3177		chr17	TogoVar
BTBD19_chr1_44803523_44820585	44814190	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02135.hp2 HG03688.hp1 NA20752.hp2 HG02135.hp2 HG03688.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0112 a0001c0001t0040 a0001c0001t0112	a0001c0001t0040g0008 a0001c0001t0112g0065 a0001c0001t0040g0008 a0001c0001t0112g0065	3	427	0.0070	18	c.42 others(27): Show c.420_*437dupTTCTTTCTTTCTTTCTTT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8	438	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816855	A A	ATATACAC others(11): Show ATATACACATAGATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0126 a0001c0001t0126	a0001c0001t0126g0006 a0001c0001t0126g0006	1	434	0.0023	18	c.30 others(29): Show c.3083_*3084insTATACACATAGATGTGTG	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		1271		chr1	TogoVar
BTBD1_chr15_83011423_83072252	83021742	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01978.hp2 HG02056.hp2 others(3): Show HG01884.hp1 HG01978.hp2 HG02056.hp2 HG02451.hp1 HG03041.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0106 a0001c0001t0003g0104 a0001c0001t0004g0005 others(3): Show a0001c0001t0002g0106 a0001c0001t0003g0104 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0009 a0001c0001t0005g0068	6	201	0.0299	18	c.105 others(35): Show c.1056-998_1056-981dupATTATTATTATTATTATT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	5/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83021742	A A	AAATAATA others(11): Show AAATAATAGTAATAATAAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	196	0.0051	18	c.105 others(35): Show c.1056-981_1056-980insATTATTATTACTATTATT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	5/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051875	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG02965.hp2 others(3): Show HG01884.hp1 HG02622.hp2 HG02965.hp2 HG03098.hp1 HG03471.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0285 a0001c0001t0002g0018 a0001c0001t0002g0019 others(3): Show a0001c0001t0001g0285 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0106 a0001c0001t0002g0107	6	274	0.0219	18	c.559 others(35): Show c.559-1698_559-1697insGTGTGTGTGTGTGTGTGT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051877	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02015.hp1 HG02080.hp1 others(20): Show HG01109.hp1 HG02015.hp1 HG02080.hp1 HG02698.hp1 HG02738.hp1 HG03239.hp1 HG03491.hp2 HG03516.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 NA18940.hp2 NA18945.hp1 NA18952.hp2 NA18978.hp2 NA18985.hp2 NA19000.hp2 NA19009.hp1 NA19057.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0020	a0001c0001t0001g0131 a0001c0001t0001g0219 a0001c0001t0001g0251 others(20): Show a0001c0001t0001g0131 a0001c0001t0001g0219 a0001c0001t0001g0251 a0001c0001t0001g0286 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0005g0072 a0001c0001t0007g0252 a0001c0001t0007g0296 a0001c0001t0011g0139 a0001c0001t0020g0303	23	31	0.7419	18	c.559 others(35): Show c.559-1717_559-1700dupGTGTGTGTGTGTGTGTGT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar

Search by Variant

Search

Search Results