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
BMPER_chr7_33900539_34161427	34024384	A A	AAAAAAAA others(7): Show AAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0007 a0001c0011t0007	a0001c0011t0007g0015 a0001c0011t0007g0015	1	24	0.0417	14	c.577 others(33): Show c.577-21921_577-21920insAAAAAATATATATA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34024384	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18982.hp1 NA19011.hp2 HG02698.hp1 NA18982.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0006 a0001c0001t0001 a0001c0001t0002 a0001c0004t0006	a0001c0001t0001g0122 a0001c0001t0002g0047 a0001c0004t0006g0006 a0001c0001t0001g0122 a0001c0001t0002g0047 a0001c0004t0006g0006	3	26	0.1154	14	c.577 others(33): Show c.577-21885_577-21872dupATATATATATATAT	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34028601	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	42	0.0238	14	c.577 others(33): Show c.577-17686_577-17673dupTTTTTTTTTTTTTT	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34065199	A A	ACTCTCTC others(7): Show ACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19030.hp2 HG03195.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0004 a0002c0006t0001 a0001c0004t0004 a0002c0006t0001	a0001c0004t0004g0112 a0002c0006t0001g0132 a0001c0004t0004g0112 a0002c0006t0001g0132	2	169	0.0118	14	c.107 others(33): Show c.1078+3155_1078+3156insTCTCTCTCTCTCTC	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34119014	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00597.hp1 others(13): Show HG00140.hp1 HG00140.hp2 HG00597.hp1 HG00639.hp1 HG00741.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG02300.hp1 HG02300.hp2 HG02647.hp1 HG03017.hp2 HG03239.hp1 HG03688.hp1 HG04184.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0017 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0004t0004 a0001c0005t0001 a0001c0005t0005 a0001c0005t0015	a0001c0001t0001g0053 a0001c0001t0001g0138 a0001c0001t0005g0044 others(13): Show a0001c0001t0001g0053 a0001c0001t0001g0138 a0001c0001t0005g0044 a0001c0001t0010g0223 a0001c0001t0017g0101 a0001c0002t0001g0159 a0001c0002t0001g0182 a0001c0002t0004g0177 a0001c0002t0004g0178 a0001c0003t0001g0149 a0001c0004t0004g0176 a0001c0005t0001g0050 a0001c0005t0001g0083 a0001c0005t0001g0121 a0001c0005t0005g0020 a0001c0005t0015g0119	16	59	0.2712	14	c.174 others(35): Show c.1746-24206_1746-24193dupACACACACACACAC	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34119014	T T	TCTCACAC others(7): Show TCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA19043.hp2 HG03017.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0139 a0001c0003t0001g0152 a0001c0001t0003g0139 a0001c0003t0001g0152	2	45	0.0444	14	c.174 others(35): Show c.1746-24215_1746-24214insTCACACACACACAC	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34119014	T T	TCTCTCTC others(7): Show TCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	44	0.0227	14	c.174 others(35): Show c.1746-24215_1746-24214insTCTCTCTCACACAC	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34119014	T T	TCTCTCTC others(7): Show TCTCTCTCTCTCACA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0103 a0001c0003t0003g0103	1	44	0.0227	14	c.174 others(35): Show c.1746-24215_1746-24214insTCTCTCTCTCACAC	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129577	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0190 a0001c0001t0005g0190	1	155	0.0065	14	c.174 others(35): Show c.1746-13634_1746-13621dupGAGAGAGAGAGAGA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129590	G G	GAGAGAGA others(7): Show GAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02735.hp1 HG00741.hp1 HG02735.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0014 a0001c0001 a0005c0014	a0001c0001t0026 a0005c0014t0007 a0001c0001t0026 a0005c0014t0007	a0001c0001t0026g0125 a0005c0014t0007g0033 a0001c0001t0026g0125 a0005c0014t0007g0033	2	230	0.0087	14	c.174 others(35): Show c.1746-13627_1746-13626insAAGAGAGAGAGAGA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129594	G G	GAGAGAGA others(7): Show GAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0229 a0001c0001t0031g0229	1	223	0.0045	14	c.174 others(35): Show c.1746-13623_1746-13622insAAGAGAGAGAGAGA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129606	G G	GAAAGAGA others(7): Show GAAAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0193 a0001c0002t0025g0193	1	199	0.0050	14	c.174 others(35): Show c.1746-13623_1746-13622insAAGAGAGAAAGAAA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86790188	A A	AAAAAAAA others(7): Show AAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0245 a0002c0001t0001g0245	1	189	0.0053	14	c.-26 others(35): Show c.-268+33270_-268+33271insAAAAAAAAAATATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86797247	T T	TTTTTTTT others(7): Show TTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp2 HG01361.hp2 others(19): Show HG00735.hp2 HG01071.hp2 HG01361.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02027.hp2 HG02145.hp1 HG02148.hp1 HG02300.hp1 HG02602.hp1 HG04115.hp2 HG04184.hp1 NA18949.hp1 NA18969.hp2 NA18972.hp2 NA18975.hp1 NA18988.hp2 NA19007.hp1 NA19060.hp1 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0001c0002t0004 a0001c0002t0017 others(11): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0017 a0001c0002t0021 a0001c0002t0028 a0001c0002t0030 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0002c0001t0008 a0002c0001t0013 a0002c0001t0019 a0002c0001t0041 a0002c0001t0042	a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0115 others(19): Show a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0142 a0001c0002t0004g0102 a0001c0002t0017g0087 a0001c0002t0017g0118 a0001c0002t0021g0156 a0001c0002t0028g0080 a0001c0002t0030g0140 a0001c0002t0030g0141 a0001c0002t0045g0063 a0001c0002t0046g0099 a0001c0002t0047g0111 a0002c0001t0008g0057 a0002c0001t0013g0083 a0002c0001t0013g0107 a0002c0001t0013g0112 a0002c0001t0019g0076 a0002c0001t0041g0059 a0002c0001t0042g0060	22	201	0.1095	14	c.-26 others(35): Show c.-268+40329_-268+40330insTTTTTTTTTTTTGT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86805377	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp1 HG00673.hp2 others(29): Show HG00099.hp2 HG00673.hp1 HG00673.hp2 HG01071.hp2 HG01433.hp1 HG01928.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02293.hp1 HG02615.hp2 HG02965.hp1 HG03017.hp2 HG03834.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18947.hp1 NA18949.hp1 NA18951.hp2 NA18955.hp2 NA18965.hp2 NA18972.hp2 NA18975.hp1 NA18986.hp1 NA19001.hp2 NA19007.hp1 NA19030.hp2 NA19068.hp2 NA19089.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 others(11): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0017 a0001c0002t0045 a0001c0002t0046 a0001c0002t0049 a0001c0002t0051 a0001c0002t0061 a0001c0002t0062 a0001c0003t0020 a0002c0001t0008 a0002c0001t0019	a0001c0002t0003g0062 a0001c0002t0003g0066 a0001c0002t0003g0085 others(29): Show a0001c0002t0003g0062 a0001c0002t0003g0066 a0001c0002t0003g0085 a0001c0002t0003g0089 a0001c0002t0003g0090 a0001c0002t0003g0091 a0001c0002t0003g0093 a0001c0002t0003g0095 a0001c0002t0003g0098 a0001c0002t0003g0113 a0001c0002t0003g0116 a0001c0002t0003g0120 a0001c0002t0003g0276 a0001c0002t0004g0078 a0001c0002t0004g0092 a0001c0002t0004g0102 a0001c0002t0004g0278 a0001c0002t0006g0169 a0001c0002t0010g0032 a0001c0002t0017g0038 a0001c0002t0017g0087 a0001c0002t0017g0109 a0001c0002t0045g0063 a0001c0002t0046g0099 a0001c0002t0049g0086 a0001c0002t0051g0136 a0001c0002t0061g0165 a0001c0002t0062g0138 a0001c0003t0020g0159 a0002c0001t0008g0057 a0002c0001t0008g0058 a0002c0001t0019g0121	32	149	0.2148	14	c.-26 others(35): Show c.-267-33473_-267-33460dupACACACACACACAC	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86824081	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 NA19240.hp2 HG02055.hp2 HG02486.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0039 a0001c0002t0081 a0001c0003t0057 a0001c0002t0039 a0001c0002t0081 a0001c0003t0057	a0001c0002t0039g0012 a0001c0002t0081g0168 a0001c0003t0057g0003 a0001c0002t0039g0012 a0001c0002t0081g0168 a0001c0003t0057g0003	3	197	0.0152	14	c.-26 others(35): Show c.-267-14766_-267-14753dupGTGTGTGTGTGTGT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86824105	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0079 a0001c0006t0079	a0001c0006t0079g0162 a0001c0006t0079g0162	1	177	0.0056	14	c.-26 others(35): Show c.-267-14753_-267-14752insGTGTGTTTGTGTGT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86826411	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG03239.hp2 others(2): Show HG02145.hp1 HG02486.hp1 HG03239.hp2 HG03654.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0021 a0001c0002t0063 others(1): Show a0001c0002t0003 a0001c0002t0021 a0001c0002t0063 a0001c0002t0072	a0001c0002t0003g0066 a0001c0002t0021g0155 a0001c0002t0021g0156 others(2): Show a0001c0002t0003g0066 a0001c0002t0021g0155 a0001c0002t0021g0156 a0001c0002t0063g0209 a0001c0002t0072g0163	5	115	0.0435	14	c.-26 others(35): Show c.-267-12437_-267-12424dupACACACACACACAC	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86826411	A A	AACACACA others(7): Show AACACACATACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01175.hp1 HG00323.hp2 HG00738.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0266 a0001c0002t0022g0267 a0001c0002t0022g0268 a0001c0002t0022g0266 a0001c0002t0022g0267 a0001c0002t0022g0268	3	113	0.0265	14	c.-26 others(35): Show c.-267-12447_-267-12446insTACACACACACACA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86835549	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0178 a0002c0001t0002g0178	1	14	0.0714	14	c.-26 others(33): Show c.-267-3290_-267-3277dupAAAAAAAAAAAAAA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86837237	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0034 a0001c0002t0007g0034	1	276	0.0036	14	c.-26 others(33): Show c.-267-1619_-267-1618insGTGTCTGTGTGTGT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86866399	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0208 a0001c0002t0006g0208	1	251	0.0040	14	c.-15 others(33): Show c.-152-9456_-152-9455insCTTTTTTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86868778	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01175.hp1 others(3): Show HG00323.hp2 HG00738.hp1 HG01175.hp1 NA18963.hp1 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0022 a0001c0002t0069 a0001c0003t0020 others(1): Show a0001c0002t0022 a0001c0002t0069 a0001c0003t0020 a0001c0006t0079	a0001c0002t0022g0266 a0001c0002t0022g0267 a0001c0002t0022g0268 others(3): Show a0001c0002t0022g0266 a0001c0002t0022g0267 a0001c0002t0022g0268 a0001c0002t0069g0207 a0001c0003t0020g0159 a0001c0006t0079g0162	6	179	0.0335	14	c.-15 others(33): Show c.-152-7076_-152-7075insTTTTTTTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86906723	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0257 a0002c0001t0002g0257	1	182	0.0055	14	c.531 others(31): Show c.531-5491_531-5478dupAAAAAAAAAAAAAA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86925721	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG01071.hp2 HG01891.hp2 others(10): Show HG00099.hp2 HG01071.hp2 HG01891.hp2 HG02572.hp2 HG02698.hp2 HG02976.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp1 NA18612.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0025 a0001c0002t0065 a0001c0002t0066 others(2): Show a0001c0002t0025 a0001c0002t0065 a0001c0002t0066 a0002c0001t0008 a0002c0001t0073	a0001c0002t0025g0029 a0001c0002t0025g0030 a0001c0002t0025g0035 others(10): Show a0001c0002t0025g0029 a0001c0002t0025g0030 a0001c0002t0025g0035 a0001c0002t0065g0203 a0001c0002t0066g0206 a0002c0001t0008g0045 a0002c0001t0008g0050 a0002c0001t0008g0053 a0002c0001t0008g0055 a0002c0001t0008g0057 a0002c0001t0008g0058 a0002c0001t0008g0061 a0002c0001t0073g0269	13	109	0.1193	14	c.20 others(25): Show c.2006_*2019dupTTTTTTTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	13/13	2020	INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(7): Show CACACACACATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0188 a0002c0001t0005g0188	1	121	0.0083	14	c.75 others(25): Show c.7579_*7580insACACACACATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94770180	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0012 a0001c0001t0007g0012	1	99	0.0101	14	c.-18 others(35): Show c.-183+12113_-183+12114insTTTTTTTTTTTTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94849793	G G	GGGGTGTG others(7): Show GGGGTGTGTGTGTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	67	0.0149	14	c.-18 others(35): Show c.-182-26037_-182-26036insGGTGTGTGTGTTTG	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94908093	A A	AAAAAAAA others(7): Show AAAAAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01255.hp1 HG01346.hp1 others(4): Show HG00280.hp2 HG01255.hp1 HG01346.hp1 HG02056.hp2 HG02132.hp1 HG02738.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0047	a0001c0001t0002g0067 a0001c0001t0003g0033 a0001c0001t0003g0036 others(4): Show a0001c0001t0002g0067 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0099 a0001c0001t0003g0164 a0001c0001t0006g0185 a0001c0001t0047g0104	7	169	0.0414	14	c.-11 others(35): Show c.-113+32197_-113+32198insAAAGAAAAAGAAAA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94937717	C C	CACACACA others(7): Show CACACACACACACAG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0162	1	149	0.0067	14	c.-11 others(35): Show c.-112-58322_-112-58321insCACACACACACAGA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94965777	A A	AGAGAGTG others(7): Show AGAGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG06807.hp1 NA18522.hp2 others(1): Show HG03041.hp1 HG06807.hp1 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0016 a0001c0001t0052 others(1): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0052 a0001c0002t0020	a0001c0001t0005g0022 a0001c0001t0016g0039 a0001c0001t0052g0134 others(1): Show a0001c0001t0005g0022 a0001c0001t0016g0039 a0001c0001t0052g0134 a0001c0002t0020g0014	4	194	0.0206	14	c.-11 others(35): Show c.-112-30262_-112-30261insAGAGTGTGTGTGTG	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95026126	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02897.hp2 HG02630.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0050 a0001c0001t0023 a0001c0001t0050	a0001c0001t0023g0133 a0001c0001t0050g0135 a0001c0001t0023g0133 a0001c0001t0050g0135	2	221	0.0090	14	c.-18 others(33): Show c.-18+29994_-18+30007dupTTCTTTCTTTCTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95053281	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01106.hp1 others(4): Show HG00642.hp2 HG00738.hp2 HG01106.hp1 HG02698.hp1 HG03017.hp2 HG03834.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0048 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0048 a0001c0001t0054	a0001c0001t0002g0037 a0001c0001t0002g0117 a0001c0001t0003g0031 others(4): Show a0001c0001t0002g0037 a0001c0001t0002g0117 a0001c0001t0003g0031 a0001c0001t0003g0035 a0001c0001t0003g0145 a0001c0001t0048g0085 a0001c0001t0054g0137	7	33	0.2121	14	c.-17 others(33): Show c.-17-51098_-17-51085dupTGTGTGTGTGTGTG	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95071646	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03579.hp1 HG01243.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0044 a0001c0001t0005 a0001c0001t0044	a0001c0001t0005g0013 a0001c0001t0044g0103 a0001c0001t0005g0013 a0001c0001t0044g0103	2	214	0.0093	14	c.-17 others(33): Show c.-17-32761_-17-32760insATATATATATATAT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95071650	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02965.hp1 NA18612.hp2 HG01361.hp2 HG02965.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0001t0001 a0001c0001t0002 a0001c0001t0021	a0001c0001t0001g0097 a0001c0001t0002g0210 a0001c0001t0021g0052 a0001c0001t0001g0097 a0001c0001t0002g0210 a0001c0001t0021g0052	3	167	0.0180	14	c.-17 others(33): Show c.-17-32757_-17-32756insATATATATATATAT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95085989	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0016 a0004c0003t0016	a0004c0003t0016g0131 a0004c0003t0016g0131	1	94	0.0106	14	c.-17 others(33): Show c.-17-18409_-17-18396dupGTGTGTGTGTGTGT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95116421	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18612.hp2 HG03139.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0097 a0001c0001t0019g0011 a0001c0001t0001g0097 a0001c0001t0019g0011	2	32	0.0625	14	c.349 others(29): Show c.349+664_349+677dupACACACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95127044	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG01261.hp2 others(5): Show HG00323.hp2 HG00735.hp1 HG01261.hp2 HG01978.hp2 HG02109.hp1 HG04115.hp2 NA19000.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0002g0037 a0001c0001t0002g0144 a0001c0001t0004g0045 others(5): Show a0001c0001t0002g0037 a0001c0001t0002g0144 a0001c0001t0004g0045 a0001c0001t0004g0089 a0001c0001t0004g0102 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0008g0114	8	116	0.0690	14	c.585 others(31): Show c.585+1937_585+1950dupGTGTGTGTGTGTGT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR2_chr2_202371327_202572749	202384528	T T	TCTCTTCT others(7): Show TCTCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0013 a0001c0001t0048g0013	1	218	0.0046	14	c.76+ others(29): Show c.76+6978_76+6979insCTCTTCTTTCTTTC	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12			chr2	TogoVar
BMPR2_chr2_202371327_202572749	202393874	T T	TGAGAGAG others(7): Show TGAGAGAGCGAGAGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	220	0.0045	14	c.76+ others(31): Show c.76+16337_76+16338insCGAGAGAGCGAGAG	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202393882	C C	CGAGAGAG others(7): Show CGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01257.hp2 HG02071.hp2 others(6): Show HG00741.hp2 HG01257.hp2 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG03225.hp1 HG03834.hp1 NA18983.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0102 a0001c0001t0001g0125 others(6): Show a0001c0001t0001g0074 a0001c0001t0001g0102 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0198 a0001c0001t0001g0199	9	19	0.4737	14	c.76+ others(31): Show c.76+16371_76+16384dupGAGAGAGAGAGAGA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202393882	C C	CGAGAGCG others(7): Show CGAGAGCGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0016 a0001c0001t0049g0016	1	11	0.0909	14	c.76+ others(31): Show c.76+16337_76+16338insCGAGAGAGAGAGAG	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAAAAAAA others(7): Show AAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0058 a0001c0002t0002g0060	2	137	0.0146	14	c.77- others(31): Show c.77-29900_77-29899insAAAAAATATATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAAAAATA others(7): Show AAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0106 a0001c0002t0046g0106	1	136	0.0074	14	c.77- others(31): Show c.77-29900_77-29899insAAAATATATATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAAATATA others(7): Show AAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0077 a0001c0001t0024g0077	1	136	0.0074	14	c.77- others(31): Show c.77-29900_77-29899insAATATATATATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202435376	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0224 a0001c0001t0005g0224	1	58	0.0172	14	c.77- others(31): Show c.77-29414_77-29401dupATATATATATATAT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202485545	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02572.hp2 HG02615.hp2 others(7): Show HG00423.hp1 HG02572.hp2 HG02615.hp2 HG02809.hp2 HG03098.hp1 HG03471.hp2 HG03579.hp1 HG04115.hp2 NA18942.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 others(3): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0002t0002 a0001c0002t0012	a0001c0001t0005g0015 a0001c0001t0005g0131 a0001c0001t0005g0152 others(7): Show a0001c0001t0005g0015 a0001c0001t0005g0131 a0001c0001t0005g0152 a0001c0001t0005g0158 a0001c0001t0008g0202 a0001c0001t0011g0159 a0001c0001t0013g0149 a0001c0002t0002g0068 a0001c0002t0012g0050 a0001c0002t0012g0056	10	19	0.5263	14	c.418 others(33): Show c.418+17862_418+17875dupTTTTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMX_chrX_15495807_15561519	15527283	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	25	0.0400	14	c.884 others(31): Show c.884+1189_884+1190insTATATATATATACA	BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding	9/18		INFO_REALIGN_3_PRIME	chrX	TogoVar
BNC1_chr15_83250884_83289664	83285253	G G	GCACACAC others(7): Show GCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02809.hp1 HG02572.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0071 a0001c0001t0003g0045 a0001c0001t0003g0071	2	74	0.0270	14	c.-62 others(23): Show c.-626_-625insTGTGTGTGTGTGTG	BNC1	ENSG00000169594.14	transcript	ENST00000345382.7	protein_coding		590		chr15	TogoVar
BNC2_chr9_16404503_16875670	16412720	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0157 a0001c0001t0041g0157	1	10	0.1000	14	c.62 others(25): Show c.6255_*6268dupTCTCTCTCTCTCTC	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	7/7	6268		chr9	TogoVar

Search by Variant

Search

Search Results