Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MDGA2_chr14_46835092_47680605	47286824	T T	TATATATA others(37): Show TATATATATACACATATATATATGTATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02451.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0105 a0002c0002t0005g0107 a0002c0002t0005g0105 a0002c0002t0005g0107	2	120	0.0167	44	c.420 others(63): Show c.420+14586_420+14587insGTATATATATATATATATATACATAT ATATATGTGTATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	2/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATACATACATAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	120	0.0083	44	c.281 others(63): Show c.281-34196_281-34195insGTATGTATGTATATATATATATATAT ATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	120	0.0083	44	c.281 others(63): Show c.281-34196_281-34195insGTATGTGTATATATATATATATATAT ATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0025 a0002c0002t0019g0025	1	120	0.0083	44	c.281 others(63): Show c.281-34196_281-34195insGTATGTATATATATATATATATATAT ATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDH2_chr7_76043106_76072508	76056022	T T	TCCCCCCC others(37): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	398	0.0025	44	c.235 others(61): Show c.235+1024_235+1025insCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding	2/8			chr7	TogoVar
MDM2_chr12_68803177_68850544	68810424	C C	CTCCTGCC others(37): Show CTCCTGCCAATACTGAATATCACCAATCTTTAATTATTAACAGTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	388	0.0026	44	c.99+ others(59): Show c.99+1170_99+1171insACAGTTTCCTGCCAATACTGAATATCACCA ATCTTTAATTATTA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
MDM2_chr12_68803177_68850544	68847196	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02258.hp2 NA19062.hp2 others(1): Show HG01081.hp1 HG02258.hp2 NA19062.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0037 a0001c0001t0072 a0001c0002t0008 others(1): Show a0001c0001t0037 a0001c0001t0072 a0001c0002t0008 a0001c0002t0013	a0001c0001t0037g0002 a0001c0001t0072g0154 a0001c0002t0008g0184 others(1): Show a0001c0001t0037g0002 a0001c0001t0072g0154 a0001c0002t0008g0184 a0001c0002t0013g0183	4	388	0.0103	44	c.73 others(55): Show c.7347_*7348insTATATATATATATATATATATATATATATATATA TATATATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1653		chr12	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	290	0.0035	44	c.139 others(63): Show c.13956+748_13956+749insAAAAAAAAAAAAAAAATATATATATA TATATATATATATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
ME1_chr6_83205402_83436051	83283227	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0099 a0001c0002t0007g0099	1	272	0.0037	44	c.705 others(63): Show c.705-29490_705-29489insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0223 a0002c0004t0005g0223	1	272	0.0037	44	c.363 others(61): Show c.363-5797_363-5796insTATATATATATATATATATATATAGAGA GAGAGAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18979.hp1 HG02074.hp1 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0004 a0002c0004t0005 a0001c0002t0004 a0002c0004t0005	a0001c0002t0004g0183 a0002c0004t0005g0222 a0001c0002t0004g0183 a0002c0004t0005g0222	2	272	0.0074	44	c.363 others(61): Show c.363-5797_363-5796insTATATATATATATATATATAGAGAGAGA GAGAGAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0220 a0002c0004t0005g0220	1	272	0.0037	44	c.363 others(61): Show c.363-5797_363-5796insTATATATATATATATAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTGTATGT others(37): Show GTGTATGTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02523.hp1 NA18946.hp1 others(3): Show HG02040.hp1 HG02523.hp1 NA18946.hp1 NA18989.hp1 NA19010.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0021 a0002c0005 a0001c0002 a0001c0021 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0001c0021t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0021t0001 a0002c0005t0002	a0001c0002t0001g0005 a0001c0002t0001g0023 a0001c0002t0001g0028 others(3): Show a0001c0002t0001g0005 a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0002g0317 a0001c0021t0001g0026 a0002c0005t0002g0259	6	320	0.0188	44	c.184 others(59): Show c.184-926_184-925insTATATATATATATATATATATATATATATA TATATACACATACA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MECOM_chr3_169078507_169668712	169180794	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02080.hp2 HG02451.hp2 others(3): Show HG01175.hp1 HG02080.hp2 HG02451.hp2 HG02572.hp1 NA18962.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0021 a0001c0001t0023 a0001c0009t0007	a0001c0001t0005g0096 a0001c0001t0007g0130 a0001c0001t0015g0014 others(3): Show a0001c0001t0005g0096 a0001c0001t0007g0130 a0001c0001t0015g0014 a0001c0001t0021g0150 a0001c0001t0023g0002 a0001c0009t0007g0133	6	160	0.0375	44	c.376 others(63): Show c.376-36963_376-36962insATATATATATATATATATATATATAT ATATATATATATATATAT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MED16_chr19_862963_898187	877576	C C	CAGGGGCT others(37): Show CAGGGGCTGGCGAGGGGCTGGCGAGGGGCTGGCGAGGGGCTGGCG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02809.hp1 HG02818.hp1 others(1): Show HG01099.hp2 HG02809.hp1 HG02818.hp1 HG03486.hp2	a0002 a0007 a0008 a0002 a0007 a0008	a0002c0003 a0002c0007 a0007c0019 others(1): Show a0002c0003 a0002c0007 a0007c0019 a0008c0018	a0002c0003t0001 a0002c0007t0001 a0007c0019t0001 others(1): Show a0002c0003t0001 a0002c0007t0001 a0007c0019t0001 a0008c0018t0006	a0002c0003t0001g0013 a0002c0007t0001g0015 a0007c0019t0001g0017 others(1): Show a0002c0003t0001g0013 a0002c0007t0001g0015 a0007c0019t0001g0017 a0008c0018t0006g0014	4	56	0.0714	44	c.135 others(61): Show c.1354-397_1354-396insCGCCAGCCCCTCGCCAGCCCCTCGCCAG CCCCTCGCCAGCCCCT	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	8/15			chr19	TogoVar
MED27_chr9_131855112_132084867	131966383	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19000.hp2 HG03453.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0214 a0001c0001t0001g0034 a0001c0001t0001g0214	2	274	0.0073	44	c.480 others(63): Show c.480-26910_480-26909insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MEGF10_chr5_127285796_127466222	127309994	T T	TTTCTTTC others(37): Show TTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02886.hp2 HG01255.hp2 HG02886.hp2	a0001 a0003 a0001 a0003	a0001c0014 a0003c0009 a0001c0014 a0003c0009	a0001c0014t0005 a0003c0009t0010 a0001c0014t0005 a0003c0009t0010	a0001c0014t0005g0039 a0003c0009t0010g0089 a0001c0014t0005g0039 a0003c0009t0010g0089	2	268	0.0075	44	c.-19 others(63): Show c.-19+18941_-19+18942insTTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTC	MEGF10	ENSG00000145794.17	transcript	ENST00000503335.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
MEGF6_chr1_3482951_3616508	3596464	A A	ATCTCCAC others(37): Show ATCTCCACCCCAGGGCACCCCGCGCCATCCCCTGCCCAGCCCCCG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02895.hp1 HG02965.hp2 HG02080.hp2 HG02895.hp1 HG02965.hp2	a0018 a0027 a0047 a0018 a0027 a0047	a0018c0013 a0027c0036 a0047c0127 a0018c0013 a0027c0036 a0047c0127	a0018c0013t0046 a0027c0036t0026 a0047c0127t0022 a0018c0013t0046 a0027c0036t0026 a0047c0127t0022	a0018c0013t0046g0189 a0027c0036t0026g0245 a0047c0127t0022g0071 a0018c0013t0046g0189 a0027c0036t0026g0245 a0047c0127t0022g0071	3	292	0.0103	44	c.267 others(61): Show c.267-1061_267-1018dupCGGGGGCTGGGCAGGGGATGGCGCGGGG TGCCCTGGGGTGGAGA	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	2/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3596616	T T	TGCGCCAT others(37): Show TGCGCCATCCCCTGCCCAGCCCCCGTCTCCACCCCAGGGCACCCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0040 a0040	a0040c0065 a0040c0065	a0040c0065t0043 a0040c0065t0043	a0040c0065t0043g0108 a0040c0065t0043g0108	1	292	0.0034	44	c.267 others(61): Show c.267-1170_267-1169insGGGGTGCCCTGGGGTGGAGACGGGGGCT GGGCAGGGGATGGCGC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	2/36			chr1	TogoVar
METAP1D_chr2_171994953_172087430	172042353	A A	ACATGTGT others(37): Show ACATGTGTACGTGTGTACATATGTACGTGTACATGTGTACGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0353 a0001c0001t0002g0353	1	356	0.0028	44	c.41- others(61): Show c.41-19145_41-19144insCATGTGTACGTGTGTACATATGTACGTG TACATGTGTACGTGTG	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9			chr2	TogoVar
METTL8_chr2_171310746_171438990	171363796	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01978.hp2 HG01496.hp2 HG01978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0056 a0001c0003t0005 a0001c0003t0056	a0001c0003t0005g0029 a0001c0003t0056g0253 a0001c0003t0005g0029 a0001c0003t0056g0253	2	332	0.0060	44	c.144 others(61): Show c.144-3284_144-3283insCATATATATATATATATATATATATATA TATATATATATATATA	METTL8	ENSG00000123600.21	transcript	ENST00000375258.9	protein_coding	2/9			chr2	TogoVar
MFGE8_chr15_88893683_88918379	88913993	T T	TAAAAAAA others(37): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0058 a0001c0003t0002g0058	1	436	0.0023	44	c.-67 others(53): Show c.-675_-674insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding		615		chr15	TogoVar
MGAM_chr7_141990879_142111747	142067986	A A	ATATATAT others(37): Show ATATATATATAAATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0103 a0001c0103	a0001c0103t0001 a0001c0103t0001	a0001c0103t0001g0156 a0001c0103t0001g0156	1	316	0.0032	44	c.500 others(61): Show c.5004+562_5004+563insATATATATAAATATATATATATATATAT ATATTTTTTTTTTTTT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142105795	T T	TTTCCTTT others(37): Show TTTCCTTTGGTTCCTAACAGGTATTAAGCATCGCCAGTCTTGCCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0247	1	316	0.0032	44	c.818 others(59): Show c.8185-18_8185-17insTCCTTTGGTTCCTAACAGGTATTAAGCATC GCCAGTCTTGCCAT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	70/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT4C_chr12_85950667_86261391	86110306	A A	AGTCTATA others(37): Show AGTCTATATATATAGTCTATATATATATAGTCTATATATATAGAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0059 a0001c0001t0080g0059	1	186	0.0054	44	c.-56 others(63): Show c.-56-60584_-56-60583insGTCTATATATATAGACTATATATATA TAGACTATATATATAGAC	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MIA2_chr14_39228915_39355694	39298442	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATGTAA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18984.hp2 NA18962.hp2 NA18984.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0017 a0001c0003 a0005c0017	a0001c0003t0001 a0005c0017t0001 a0001c0003t0001 a0005c0017t0001	a0001c0003t0001g0293 a0005c0017t0001g0315 a0001c0003t0001g0293 a0005c0017t0001g0315	2	368	0.0054	44	c.249 others(63): Show c.2497-1421_2497-1420insTATATATATATATATATATATATATA TATATATATATATGTAAA	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MICALL2_chr7_1429359_1464470	1434452	T T	TCCCGAGT others(37): Show TCCCGAGTCCAAGTCCGAATGCCGGGTCCGGGCCGAGCCCACGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0225 a0001c0001t0005g0225	1	280	0.0036	44	c.10 others(53): Show c.100_*143dupGCCGTGGGCTCGGCCCGGACCCGGCATTCGGACTTG GACTCGGG	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	17/17	143		chr7	TogoVar
MINAR1_chr15_79427336_79477304	79439154	G G	GTGTGGGG others(37): Show GTGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGTGTGTGTAGGT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19086.hp1 NA19001.hp2 NA19086.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0028 a0001c0004t0026 a0001c0004t0028	a0001c0004t0026g0163 a0001c0004t0028g0160 a0001c0004t0026g0163 a0001c0004t0028g0160	2	390	0.0051	44	c.-51 others(61): Show c.-51+6623_-51+6624insGGTAGTGAGTGTGTGGGGTGTGGGTGTG TGTAGGTTGTGGGGTG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINDY2_chr15_58766302_58866900	58831041	G G	GTGTATAT others(37): Show GTGTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0100 a0001c0002t0019g0100	1	384	0.0026	44	c.122 others(61): Show c.1226-732_1226-731insGTATATATATATATATATATATATATAT ATATATATATATATAT	MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
MIX23_chr3_122354591_122388231	122356134	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 NA19056.hp1 HG00741.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0023 a0001c0001t0004 a0001c0001t0023	a0001c0001t0004g0163 a0001c0001t0023g0170 a0001c0001t0004g0163 a0001c0001t0023g0170	2	420	0.0048	44	c.37 others(55): Show c.3734_*3735insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	MIX23	ENSG00000160124.9	transcript	ENST00000291458.9	protein_coding		3456		chr3	TogoVar
MKX_chr10_27667874_27750819	27711494	T T	TTTCTTTC others(37): Show TTTCTTTCTCTCTCTCTCTCTCTCTCTCCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0028 a0001c0001t0006g0028	1	354	0.0028	44	c.838 others(63): Show c.838+22961_838+22962insGAAGGAAGGAAGGAAGGGAGAGAGAG AGAGAGAGAGAGAAAGAA	MKX	ENSG00000150051.14	transcript	ENST00000419761.6	protein_coding	5/6			chr10	TogoVar
MLIP_chr6_54106443_54271280	54109924	T T	TCTTCCTT others(37): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0117 a0002c0003t0002g0117	1	248	0.0040	44	c.-15 others(55): Show c.-1556_-1555insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding		1518		chr6	TogoVar
MLXIPL_chr7_73588202_73629522	73602130	G G	GCCTTCCT others(37): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	276	0.0036	44	c.902 others(61): Show c.902-2436_902-2435insAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGG	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	7/16			chr7	TogoVar
MMAB_chr12_109548715_109578504	109556648	T T	TCTCTCTC others(37): Show TCTCTCTCTCACACACACACACACACACACACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0064 a0003c0002t0064	a0003c0002t0064g0048 a0003c0002t0064g0048	1	368	0.0027	44	c.37 others(53): Show c.379_*380insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG AGAGAGAG	MMAB	ENSG00000139428.12	transcript	ENST00000545712.7	protein_coding	9/9	379		chr12	TogoVar
MMD2_chr7_4900998_4964187	4945185	T T	TTCTTCTT others(37): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0196 a0001c0003t0004g0196	1	382	0.0026	44	c.47+ others(61): Show c.47+13785_47+13786insGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03688.hp1 HG03654.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0081 a0001c0001t0001g0001 a0001c0001t0001g0081	2	414	0.0048	44	c.-36 others(55): Show c.-3640_-3639insTATATATATATATATATATATATATATATATATA CACACACACA	MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding		3534		chr12	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	414	0.0024	44	c.-36 others(55): Show c.-3640_-3639insTATATATATATATATATATATATATATATACACA CACACACACA	MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding		3534		chr12	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(37): Show CACACACACACACACACATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0145 a0007c0007t0001g0145	1	382	0.0026	44	c.54 others(55): Show c.5444_*5445insATATATATATATATATATATATATATATGTGTGT GTGTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(37): Show CACACACACACATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 NA18977.hp2 HG02083.hp1 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0258 a0001c0002t0001g0043 a0001c0002t0001g0258	2	382	0.0052	44	c.54 others(55): Show c.5444_*5445insATATATATATATATATATATATATATATATATAT GTGTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(37): Show CACACACACATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0260	1	382	0.0026	44	c.54 others(55): Show c.5444_*5445insATATATATATATATATATATATATATATATATAT ATGTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(37): Show CACACACATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 NA19074.hp1 HG02074.hp2 NA19074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0021 a0002c0001t0001g0001 a0002c0001t0001g0021	2	382	0.0052	44	c.54 others(55): Show c.5444_*5445insATATATATATATATATATATATATATATATATAT ATATGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACATATA others(37): Show CACATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	382	0.0026	44	c.54 others(55): Show c.5444_*5445insATATATATATATATATATATATATATATATATAT ATATATATGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MNAT1_chr14_60729761_60974965	60918735	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	272	0.0037	44	c.809 others(63): Show c.809+38922_809+38923insATATATATATATATATATATATATAT ATATATATATATATATAT	MNAT1	ENSG00000020426.11	transcript	ENST00000261245.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	414	0.0024	44	c.226 others(61): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	414	0.0024	44	c.226 others(61): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	414	0.0024	44	c.226 others(61): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MOB3B_chr9_27320209_27534814	27444224	A A	AAAGGAGG others(37): Show AAAGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00639.hp1 others(19): Show HG00099.hp2 HG00140.hp1 HG00639.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp1 HG01517.hp2 HG01934.hp1 HG01981.hp2 HG02257.hp2 HG03139.hp2 HG03486.hp1 HG03540.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0009 a0001c0001t0039 a0001c0001t0067 others(14): Show a0001c0001t0009 a0001c0001t0039 a0001c0001t0067 a0001c0001t0083 a0001c0001t0205 a0001c0002t0010 a0001c0002t0016 a0001c0002t0024 a0001c0002t0051 a0001c0002t0090 a0001c0002t0091 a0001c0002t0092 a0001c0002t0094 a0001c0002t0155 a0001c0002t0156 a0001c0002t0157 a0003c0005t0030	a0001c0001t0009g0032 a0001c0001t0039g0319 a0001c0001t0039g0320 others(19): Show a0001c0001t0009g0032 a0001c0001t0039g0319 a0001c0001t0039g0320 a0001c0001t0067g0022 a0001c0001t0083g0083 a0001c0001t0205g0310 a0001c0002t0010g0180 a0001c0002t0010g0199 a0001c0002t0010g0213 a0001c0002t0016g0029 a0001c0002t0016g0030 a0001c0002t0024g0207 a0001c0002t0024g0214 a0001c0002t0051g0003 a0001c0002t0090g0057 a0001c0002t0091g0080 a0001c0002t0092g0086 a0001c0002t0094g0056 a0001c0002t0155g0177 a0001c0002t0156g0181 a0001c0002t0157g0147 a0003c0005t0030g0096	22	320	0.0688	44	c.418 others(63): Show c.418+10908_418+10909insCCTTCCTTCCTTCCTTCCTTCCCTCC CTCCCTCCCTCCCTCCTT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	2/3			chr9	TogoVar
MON2_chr12_62461826_62605476	62534542	A A	AAAAAAAA others(37): Show AAAAAAAAATATATATATATATATATATATATATATATATTTTAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0027 a0001c0002t0010g0027	1	368	0.0027	44	c.163 others(61): Show c.1634-302_1634-301insAAAAAAATATATATATATATATATATAT ATATATATATTTTATA	MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	12/34		INFO_REALIGN_3_PRIME	chr12	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0205 a0004c0004t0001g0205	1	294	0.0034	44	c.133 others(63): Show c.1331-4936_1331-4935insCTTCCTTCCTTCCTTCCTTCTCTTTC TTTCTTTCTTTCTTTCTT	MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27			chr3	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0148 a0002c0002t0002g0148	1	294	0.0034	44	c.133 others(63): Show c.1331-4936_1331-4935insCTTCCTTCCTTCCTTCCTTCCTTCCT TCTCTTTCTTTCTTTCTT	MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27			chr3	TogoVar

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Search Results (Total: 4475 hits)