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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MLPH_chr2_237482251_237560322	237543544	G G	GGGGGGAT others(23): Show GGGGGGATGGTGAGTGGGCACGGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0271 a0008c0011t0002g0271	1	286	0.0035	30	c.153 others(47): Show c.1539+889_1539+890insGATGGTGAGTGGGCACGGTGGTGAGTGG GG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544094	G G	GGGACAGT others(23): Show GGGACAGTGGTGAGTGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0056 a0002c0002t0002g0056	1	286	0.0035	30	c.153 others(49): Show c.1539+1437_1539+1438insACAGTGGTGAGTGGGGACAGTGGTGA GTGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLXIP_chr12_122073756_122152344	122121010	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01433.hp2 HG03490.hp1 others(2): Show HG01074.hp2 HG01433.hp2 HG03490.hp1 NA18969.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0002t0016 a0002c0004t0005 a0002c0002t0002 a0002c0002t0016 a0002c0004t0005	a0002c0002t0002g0224 a0002c0002t0002g0229 a0002c0002t0002g0250 others(2): Show a0002c0002t0002g0224 a0002c0002t0002g0229 a0002c0002t0002g0250 a0002c0002t0016g0186 a0002c0004t0005g0015	5	354	0.0141	30	c.414 others(47): Show c.414-6228_414-6227insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
MMAA_chr4_145614385_145665033	145614692	T T	TTGGCACA others(23): Show TTGGCACATGTTCAGTATGCATAAATATGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	352	0.0028	30	c.-47 others(41): Show c.-4781_-4780insTGGCACATGTTCAGTATGCATAAATATGGC		MMAA	ENSG00000151611.17	transcript	ENST00000649156.2	protein_coding					4692		chr4	TogoVar
MMD2_chr7_4900998_4964187	4945184	C C	CCTTCTTC others(23): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0163 a0001c0002t0007g0163	1	382	0.0026	30	c.47+ others(47): Show c.47+13786_47+13787insAAGAAGAAGAAGAAGAAGAAGAAGAAGA AG		MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6						chr7	TogoVar
MMD2_chr7_4900998_4964187	4945185	T T	TTTCTTCT others(23): Show TTTCTTCTTCTTCCTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0322 a0001c0001t0030g0322	1	382	0.0026	30	c.47+ others(47): Show c.47+13785_47+13786insGAAGAAGAAGAAGAAGAGGAAGAAGAAG AA		MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6						chr7	TogoVar
MMD2_chr7_4900998_4964187	4945185	T T	TTTCTTCT others(23): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02486.hp2 HG02523.hp2 others(7): Show HG01978.hp2 HG02486.hp2 HG02523.hp2 HG02735.hp1 HG02970.hp1 HG03017.hp1 HG03195.hp2 HG04115.hp2 NA19068.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0003t0004	a0001c0001t0002g0095 a0001c0001t0002g0278 a0001c0001t0003g0018 others(7): Show a0001c0001t0002g0095 a0001c0001t0002g0278 a0001c0001t0003g0018 a0001c0001t0004g0263 a0001c0001t0004g0272 a0001c0001t0010g0335 a0001c0002t0001g0008 a0001c0002t0001g0197 a0001c0002t0003g0178 a0001c0003t0004g0302	10	382	0.0262	30	c.47+ others(47): Show c.47+13756_47+13785dupGAAGAAGAAGAAGAAGAAGAAGAAGAAG AA		MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6						chr7	TogoVar
MME_chr3_155075319_155188704	155133060	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18906.hp2 HG01891.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0202 a0001c0001t0001g0204	2	336	0.0060	30	c.721 others(47): Show c.721-5041_721-5040insTATATATATATATATATATATATATATA TA		MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding	8/22					INFO_REALIGN_3_PRIME	chr3	TogoVar
MMP15_chr16_58020754_58051901	58022896	C C	CGCTCCCG others(23): Show CGCTCCCGCTGACAGTGCAGAAGCAGCCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG01081.hp1 others(23): Show HG00621.hp2 HG00642.hp2 HG01081.hp1 HG01106.hp1 HG02074.hp1 HG02132.hp2 HG02735.hp1 HG03491.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 NA18747.hp1 NA18945.hp2 NA18959.hp2 NA18964.hp1 NA18967.hp2 NA18984.hp2 NA18987.hp1 NA19057.hp2 NA19060.hp2 NA19091.hp1 NA20300.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0010 a0016	a0001c0001 a0001c0010 a0001c0023 others(5): Show a0001c0001 a0001c0010 a0001c0023 a0001c0029 a0002c0002 a0007c0020 a0010c0026 a0016c0027	a0001c0001t0001 a0001c0001t0011 a0001c0010t0001 others(6): Show a0001c0001t0001 a0001c0001t0011 a0001c0010t0001 a0001c0023t0001 a0001c0029t0001 a0002c0002t0006 a0007c0020t0011 a0010c0026t0001 a0016c0027t0014	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0096 a0001c0001t0011g0026 a0001c0010t0001g0016 a0001c0023t0001g0003 a0001c0029t0001g0016 a0002c0002t0006g0055 a0007c0020t0011g0026 a0010c0026t0001g0016 a0016c0027t0014g0015	26	374	0.0695	30	c.-34 others(41): Show c.-3455_-3454insGCTCCCGCTGACAGTGCAGAAGCAGCCGGG		MMP15	ENSG00000102996.5	transcript	ENST00000219271.4	protein_coding					2857		chr16	TogoVar
MMP17_chr12_131823393_131856771	131827365	G G	GGGGGGGG others(23): Show GGGGGGGGGGGGGGGAGGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0243 a0001c0013t0002g0243	1	398	0.0025	30	c.-11 others(41): Show c.-1130_-1129insGGGGGGGGGGGGGGAGGGGGGGGGTGGGGT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1027		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827365	G G	GGGGGGGG others(23): Show GGGGGGGGGGGGGGGGGAGGGGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	398	0.0025	30	c.-11 others(41): Show c.-1130_-1129insGGGGGGGGGGGGGGGGAGGGGGGGGGGGGT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1027		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827366	G G	GGGGGGGG others(23): Show GGGGGGGGGGGGGGGAGGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0250 a0001c0003t0003g0250	1	398	0.0025	30	c.-11 others(41): Show c.-1129_-1128insGGGGGGGGGGGGGGAGGGGGGGGGTGGGGT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1026		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827366	G G	GGGGGGGG others(23): Show GGGGGGGGGGGGGGGGAGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0224 a0001c0002t0001g0224	1	398	0.0025	30	c.-11 others(41): Show c.-1129_-1128insGGGGGGGGGGGGGGGAGGGGGGGGTGGGGT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1026		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827366	G G	GGGGGGGG others(23): Show GGGGGGGGGGGGGGGGGGAGGGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0225 a0001c0002t0001g0225	1	398	0.0025	30	c.-11 others(41): Show c.-1129_-1128insGGGGGGGGGGGGGGGGGAGGGGGGGGGGGT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1026		chr12	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0076 a0002c0003t0001g0076	1	414	0.0024	30	c.-36 others(41): Show c.-3640_-3639insTATATATATATATATATATATATATACACA		MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding					3534		chr12	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTGTGT others(23): Show GTGTGTGTGTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03704.hp2 NA19240.hp2 HG02976.hp1 HG03704.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0077 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0077	3	414	0.0073	30	c.-36 others(41): Show c.-3640_-3639insTATATATATATATATATATATACACACACA		MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding					3534		chr12	TogoVar
MMP20_chr11_102571832_102630332	102629485	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0148 a0003c0003t0001g0148	1	446	0.0022	30	c.-41 others(41): Show c.-4167_-4166insGTGTATATATATATATATATATATATATAT		MMP20	ENSG00000137674.4	transcript	ENST00000260228.3	protein_coding					4154		chr11	TogoVar
MMP20_chr11_102571832_102630332	102629485	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG04184.hp1 NA18953.hp2 others(1): Show HG00639.hp1 HG04184.hp1 NA18953.hp2 NA18966.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0228 a0001c0001t0001g0265 a0001c0001t0001g0267 others(1): Show a0001c0001t0001g0228 a0001c0001t0001g0265 a0001c0001t0001g0267 a0003c0003t0001g0011	4	446	0.0090	30	c.-41 others(41): Show c.-4167_-4166insGTATATATATATATATATATATATATATAT		MMP20	ENSG00000137674.4	transcript	ENST00000260228.3	protein_coding					4154		chr11	TogoVar
MMP24OS_chr20_35271352_35283122	35277779	C C	CGGGCTCG others(23): Show CGGGCTCGGGCTGGGGCTGGGGCTGGGGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0017 a0002c0007t0004g0017	2	374	0.0054	30	c.150 others(37): Show c.150_151insCAGCCCCAGCCCCAGCCCCAGCCCGAGCCC	p.Pro others(41): Show p.Pro50_Glu51insGlnProGlnProGlnProGlnProGluPro	MMP24OS	ENSG00000126005.17	transcript	ENST00000456790.2	protein_coding	2/2	267/1695	150/216	50/71			chr20	TogoVar
MMP24_chr20_35221690_35281998	35277779	C C	CGGGCTCG others(23): Show CGGGCTCGGGCTGGGGCTGGGGCTGGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0003 a0001c0001t0022g0003	1	320	0.0031	30	c.31 others(41): Show c.3170_*3171insGGGCTCGGGCTGGGGCTGGGGCTGGGGCTG		MMP24	ENSG00000125966.10	transcript	ENST00000246186.8	protein_coding					782		chr20	TogoVar
MMP26_chr11_4699784_4997429	4986936	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	206	0.0049	30	c.-14 others(49): Show c.-144-1109_-144-1108insTCTCTCCCTCTCTCTCTCTCTCTCTC TCTC		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP28_chr17_35760865_35800641	35786699	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG04228.hp1 NA18522.hp2 HG02965.hp1 HG04228.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0040 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0001t0001g0040 a0001c0003t0001g0252 a0001c0003t0001g0253	3	309	0.0097	30	c.112 others(47): Show c.112-7377_112-7376insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		MMP28	ENSG00000271447.6	transcript	ENST00000605424.6	protein_coding	1/7						chr17	TogoVar
MMP2_chr16_55474198_55511691	55500494	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	452	0.0022	30	c.176 others(49): Show c.1769+2062_1769+2091dupCACACACACACACACACACACACACA CACA		MMP2	ENSG00000087245.13	transcript	ENST00000219070.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(23): Show CACACACACACACACACATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02897.hp1 others(2): Show HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03209.hp2 NA19043.hp2	a0006 a0018 a0006 a0018	a0006c0006 a0018c0015 a0006c0006 a0018c0015	a0006c0006t0001 a0018c0015t0001 a0006c0006t0001 a0018c0015t0001	a0006c0006t0001g0017 a0006c0006t0001g0208 a0006c0006t0001g0209 others(1): Show a0006c0006t0001g0017 a0006c0006t0001g0208 a0006c0006t0001g0209 a0018c0015t0001g0115	5	382	0.0131	30	c.54 others(41): Show c.5444_*5445insATATATATATATATGTGTGTGTGTGTGTGT		MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding					4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(23): Show CACACACACACATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0248 a0003c0004t0001g0248	1	382	0.0026	30	c.54 others(41): Show c.5444_*5445insATATATATATATATATATATGTGTGTGTGT		MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding					4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(23): Show CACACACATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 NA19057.hp1 HG00609.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0262 a0002c0001t0001g0096 a0001c0002t0001g0262 a0002c0001t0001g0096	2	382	0.0052	30	c.54 others(41): Show c.5444_*5445insATATATATATATATATATATATATGTGTGT		MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding					4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACATATA others(23): Show CACATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0229 a0003c0004t0001g0229	1	382	0.0026	30	c.54 others(41): Show c.5444_*5445insATATATATATATATATATATATATATATGT		MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding					4241		chr10	TogoVar
MMS19_chr10_97453324_97503422	97486862	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	372	0.0027	30	c.113 others(47): Show c.113-2741_113-2712dupATATATATATATATATATATATATATAT AT		MMS19	ENSG00000155229.21	transcript	ENST00000438925.7	protein_coding	1/30						chr10	TogoVar
MMS19_chr10_97453324_97503422	97502848	C C	CATATATA others(23): Show CATATATACGTATATATACGTATATATGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG03579.hp1 others(1): Show HG02109.hp1 HG02572.hp2 HG03579.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0008t0001 a0002c0002t0001 a0001c0001t0001 a0001c0008t0001 a0002c0002t0001	a0001c0001t0001g0087 a0001c0001t0001g0139 a0001c0008t0001g0029 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0139 a0001c0008t0001g0029 a0002c0002t0001g0213	4	372	0.0108	30	c.-44 others(41): Show c.-4494_-4465dupATACATATATACGTATATATACGTATATAT		MMS19	ENSG00000155229.21	transcript	ENST00000438925.7	protein_coding					4427		chr10	TogoVar
MMS22L_chr6_97137161_97288216	97268875	C C	CTATATAG others(23): Show CTATATAGACATATATATGTAAGTATATACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18983.hp2 NA19006.hp1 HG02055.hp1 NA18983.hp2 NA19006.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0030 a0001c0001t0002 a0002c0002t0030	a0001c0001t0002g0159 a0002c0002t0030g0037 a0002c0002t0030g0145 a0001c0001t0002g0159 a0002c0002t0030g0037 a0002c0002t0030g0145	3	292	0.0103	30	c.698 others(45): Show c.698-903_698-874dupTGTATATACTTACATATATATGTCTATATA		MMS22L	ENSG00000146263.12	transcript	ENST00000683635.1	protein_coding	7/24						chr6	TogoVar
MND1_chr4_153339688_153420118	153391727	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	342	0.0029	30	c.277 others(47): Show c.277-2512_277-2511insCACACACACACACACACACACACACACA CA		MND1	ENSG00000121211.8	transcript	ENST00000240488.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	414	0.0024	30	c.226 others(47): Show c.226-3489_226-3488insATATATATATATATATATATTTTTTTTT TT		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9						chr15	TogoVar
MOB2_chr11_1464457_1491779	1466268	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01071.hp1 HG02109.hp2 others(8): Show HG00423.hp2 HG01071.hp1 HG02109.hp2 HG02572.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03927.hp2 NA18522.hp1 NA18959.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0031 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0085	11	426	0.0258	30	c.39 others(41): Show c.3903_*3904insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT		MOB2	ENSG00000182208.15	transcript	ENST00000329957.7	protein_coding					3188		chr11	TogoVar
MOBP_chr3_39462680_39508027	39469054	G G	GTATATAT others(23): Show GTATATATACATATATACATATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01361.hp2 HG01433.hp2 others(4): Show HG00621.hp2 HG01361.hp2 HG01433.hp2 HG01934.hp1 HG02293.hp2 HG04115.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0108 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111	7	400	0.0175	30	c.-89 others(47): Show c.-89+1320_-89+1321insTACATATATACATATGTGTGTGTATATA TA		MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
MOCOS_chr18_36182497_36277157	36262250	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp2 HG02015.hp1 others(34): Show HG00438.hp1 HG00733.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02258.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG03225.hp1 HG03540.hp2 HG03669.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp2 NA18942.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp2 NA18965.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18985.hp2 NA18999.hp1 NA19054.hp2 NA19055.hp1 NA19062.hp1 NA19076.hp1 NA19085.hp2 NA19086.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0007 a0010 a0011 a0016 a0018 a0028	a0001c0001 a0002c0002 a0003c0003 others(7): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0007c0007 a0010c0014 a0011c0011 a0016c0020 a0018c0018 a0028c0038	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(23): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0029 a0001c0001t0031 a0001c0001t0034 a0001c0001t0044 a0002c0002t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0015 a0005c0005t0018 a0005c0005t0024 a0007c0007t0001 a0007c0007t0017 a0010c0014t0035 a0011c0011t0073 a0016c0020t0002 a0018c0018t0039 a0028c0038t0003	a0001c0001t0002g0232 a0001c0001t0002g0259 a0001c0001t0003g0002 others(34): Show a0001c0001t0002g0232 a0001c0001t0002g0259 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0175 a0001c0001t0003g0249 a0001c0001t0005g0084 a0001c0001t0008g0148 a0001c0001t0008g0207 a0001c0001t0010g0145 a0001c0001t0013g0170 a0001c0001t0017g0224 a0001c0001t0019g0116 a0001c0001t0019g0123 a0001c0001t0021g0271 a0001c0001t0029g0272 a0001c0001t0031g0124 a0001c0001t0031g0125 a0001c0001t0034g0011 a0001c0001t0044g0005 a0002c0002t0001g0060 a0003c0003t0002g0318 a0003c0003t0003g0327 a0003c0003t0015g0332 a0005c0005t0018g0100 a0005c0005t0024g0093 a0007c0007t0001g0326 a0007c0007t0017g0354 a0007c0007t0017g0355 a0010c0014t0035g0014 a0010c0014t0035g0087 a0011c0011t0073g0305 a0016c0020t0002g0256 a0018c0018t0039g0199 a0028c0038t0003g0235	37	358	0.1034	30	c.240 others(49): Show c.2409+2101_2409+2102insACACACACACACACACACACACACAC ACAC		MOCOS	ENSG00000075643.6	transcript	ENST00000261326.6	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr18	TogoVar
MON1B_chr16_77186190_77207398	77200291	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0011 a0001c0001t0076g0011	1	440	0.0023	30	c.19 others(41): Show c.1984_*1985insTATATATATATATATATATATATATACACA		MON1B	ENSG00000103111.15	transcript	ENST00000248248.8	protein_coding	6/6				1985	INFO_REALIGN_3_PRIME	chr16	TogoVar
MON1B_chr16_77186190_77207398	77200291	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG00741.hp1 others(6): Show HG00408.hp1 HG00639.hp1 HG00741.hp1 HG01081.hp2 HG01346.hp2 HG01993.hp1 HG03540.hp1 NA18959.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0051 a0001c0002t0105 a0001c0002t0011 a0001c0002t0051 a0001c0002t0105	a0001c0002t0011g0002 a0001c0002t0011g0039 a0001c0002t0051g0002 others(1): Show a0001c0002t0011g0002 a0001c0002t0011g0039 a0001c0002t0051g0002 a0001c0002t0105g0041	9	440	0.0205	30	c.19 others(41): Show c.1984_*1985insTATATATATATATATATATATATATATACA		MON1B	ENSG00000103111.15	transcript	ENST00000248248.8	protein_coding	6/6				1985	INFO_REALIGN_3_PRIME	chr16	TogoVar
MON2_chr12_62461826_62605476	62534542	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0298 a0001c0002t0013g0298	1	368	0.0027	30	c.163 others(47): Show c.1634-302_1634-301insAAAATATATATATATATATATATATATA TA		MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	12/34					INFO_REALIGN_3_PRIME	chr12	TogoVar
MORC1_chr3_108953248_109123134	108996286	G G	GCGCGCGC others(23): Show GCGCGCGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	294	0.0034	30	c.218 others(49): Show c.2187+4270_2187+4271insTGTGTGTGTGTGTGTGTGTGTGTGCG CGCG		MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	21/27						chr3	TogoVar
MORC1_chr3_108953248_109123134	108996286	G G	GCGCGCGC others(23): Show GCGCGCGCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp1 HG02698.hp2 others(2): Show HG00642.hp1 HG01346.hp1 HG02698.hp2 HG02818.hp1 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0002 a0002c0006t0001 a0002c0002t0002 a0002c0006t0001	a0002c0002t0002g0153 a0002c0002t0002g0168 a0002c0002t0002g0176 others(2): Show a0002c0002t0002g0153 a0002c0002t0002g0168 a0002c0002t0002g0176 a0002c0002t0002g0178 a0002c0006t0001g0164	5	294	0.0170	30	c.218 others(49): Show c.2187+4270_2187+4271insTGTGTGTGTGTGTGTGTGTGTGCGCG CGCG		MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	21/27						chr3	TogoVar
MORC1_chr3_108953248_109123134	108996286	G G	GCGCGCGC others(23): Show GCGCGCGCGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0170 a0002c0002t0002g0170	1	294	0.0034	30	c.218 others(49): Show c.2187+4270_2187+4271insTGTGTGTGTGTGTGTGTGTGCGCGCG CGCG		MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	21/27						chr3	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(23): Show AAAGAAAGAAAGAAAGAAGAGAAGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	294	0.0034	30	c.133 others(49): Show c.1331-4936_1331-4935insCTTCCTTCTTCTCTTCTTTCTTTCTT TCTT		MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27						chr3	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(23): Show AAAGAAAGAAAGAAGAAGAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0211 a0005c0005t0002g0211	1	294	0.0034	30	c.133 others(49): Show c.1331-4936_1331-4935insCTTCCTTCCTTCTCTTCTTCTTTCTT TCTT		MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27						chr3	TogoVar
MORF4L2_chrX_103670498_103691699	103690601	C C	CATATCTC others(23): Show CATATCTCATGGCAGATGCCCGAGAAAAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	312	0.0032	30	c.-42 others(41): Show c.-4239_-4238insCACTTTTCTCGGGCATCTGCCATGAGATAT		MORF4L2	ENSG00000123562.18	transcript	ENST00000441076.7	protein_coding					3903		chrX	TogoVar
MORN1_chr1_2316253_2396554	2342867	A A	ATTTTATT others(23): Show ATTTTATTTTATTTTATTTTATTTATTTTAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	80	0.0125	30	c.103 others(49): Show c.1037-6018_1037-6017insATAAAATAAATAAAATAAAATAAAAT AAAA		MORN1	ENSG00000116151.14	transcript	ENST00000378531.8	protein_coding	10/13						chr1	TogoVar
MOSMO_chr16_22003111_22089654	22023997	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG01243.hp1 others(7): Show HG00735.hp2 HG01106.hp1 HG01243.hp1 HG01346.hp1 HG02145.hp2 HG03453.hp2 NA18979.hp2 NA19004.hp2 NA19030.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0216 a0001c0001t0001g0228 a0001c0001t0001g0238 others(7): Show a0001c0001t0001g0216 a0001c0001t0001g0228 a0001c0001t0001g0238 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0080 a0001c0001t0007g0198 a0001c0001t0007g0236 a0001c0001t0007g0278 a0001c0001t0008g0072	10	306	0.0327	30	c.106 others(49): Show c.106+15609_106+15610insATATATATATATATATATATATATAT ATAT		MOSMO	ENSG00000185716.12	transcript	ENST00000542527.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr16	TogoVar
MOV10L1_chr22_50085006_50166687	50137829	A A	ATTTTATA others(23): Show ATTTTATATATACATATATAAATATACATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp2 HG02258.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0059 a0001c0001t0001g0060	2	400	0.0050	30	c.207 others(49): Show c.2070+3213_2070+3242dupTATATAAATATACATATTTTTATATA TACA		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	15/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MOV10_chr1_112669659_112705739	112685653	C C	CAATAAAA others(23): Show CAATAAAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG01433.hp2 others(9): Show HG00438.hp1 HG00673.hp1 HG01433.hp2 HG02080.hp1 HG03209.hp1 NA18943.hp2 NA18949.hp2 NA18950.hp1 NA18977.hp2 NA18978.hp2 NA19055.hp2 NA19058.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0049 others(7): Show a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0049 a0001c0003t0001g0052 a0001c0003t0001g0055 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0142 a0001c0003t0001g0144	12	400	0.0300	30	c.138 others(47): Show c.138-3277_138-3248dupAAATAAAATAAAATAAAATAAAATAAAA TA		MOV10	ENSG00000155363.19	transcript	ENST00000369645.6	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
MOXD1_chr6_132291055_132406475	132349412	T T	TATATATA others(23): Show TATATATACATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0231 a0001c0001t0014g0231	1	318	0.0031	30	c.664 others(49): Show c.664-20819_664-20818insGTATATATATATGTATATATATGTAT ATAT		MOXD1	ENSG00000079931.15	transcript	ENST00000367963.8	protein_coding	4/11						chr6	TogoVar
MOXD1_chr6_132291055_132406475	132349484	T T	TATATATA others(23): Show TATATATATATATACATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	318	0.0031	30	c.664 others(49): Show c.664-20891_664-20890insGTATATATATATATATGTATATATAT ATAT		MOXD1	ENSG00000079931.15	transcript	ENST00000367963.8	protein_coding	4/11						chr6	TogoVar

Search by Variant

Search

Search Results