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
MCC_chr5_113017106_113493453	113327561	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0003 a0003	a0003c0038 a0003c0038	a0003c0038t0005 a0003c0038t0005	a0003c0038t0005g0014 a0003c0038t0005g0014	1	160	0.0063	36	c.627 others(55): Show c.627+12957_627+12958insATATATATATATATATATATATATAT ATATATTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113333838	T T	TATATGTA others(29): Show TATATGTATATATGTACATATATGTACATATATGTAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19083.hp1 HG00621.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0140 a0002c0002t0001g0143 a0002c0002t0001g0140 a0002c0002t0001g0143	2	160	0.0125	36	c.627 others(53): Show c.627+6680_627+6681insGTACATATATGTACATATATGTACATAT ATACATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(29): Show GCGCGCGCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0021 a0004c0004t0021	a0004c0004t0021g0149 a0004c0004t0021g0149	1	176	0.0057	36	c.130 others(55): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGCGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113033035	G G	GCGTGAGT others(29): Show GCGTGAGTGGCCCCCGTGATGTGAGTGGCCCCCGTGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03471.hp1 HG02145.hp2 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0001 a0001c0012t0031 a0001c0004t0001 a0001c0012t0031	a0001c0004t0001g0103 a0001c0012t0031g0021 a0001c0004t0001g0103 a0001c0012t0031g0021	2	116	0.0172	36	c.278 others(53): Show c.278+8291_278+8292insGTGATGTGAGTGGCCCCCGTGACGTGAG TGGCCCCC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113033306	C C	CGTGAGTG others(29): Show CGTGAGTGGCCCCCATGACGTGAGTGGCCCCCGTGAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03471.hp1 HG02145.hp2 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0001 a0001c0012t0031 a0001c0004t0001 a0001c0012t0031	a0001c0004t0001g0103 a0001c0012t0031g0021 a0001c0004t0001g0103 a0001c0012t0031g0021	2	116	0.0172	36	c.278 others(53): Show c.278+8560_278+8561insCATGACGTGAGTGGCCCCCGTGATGTGA GTGGCCCC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113033399	G G	GAGTGGCC others(29): Show GAGTGGCCCCTGTGGCGTGAGTGGCCCCTGTGACATT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03471.hp1 HG02145.hp2 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0001 a0001c0012t0031 a0001c0004t0001 a0001c0012t0031	a0001c0004t0001g0103 a0001c0012t0031g0021 a0001c0004t0001g0103 a0001c0012t0031g0021	2	116	0.0172	36	c.278 others(53): Show c.278+8646_278+8647insCCCCTGTGGCGTGAGTGGCCCCTGTGAC ATTAGTGG	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTAT others(29): Show GTGTGTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 NA18964.hp1 NA19001.hp1 others(1): Show HG03579.hp2 NA18964.hp1 NA19001.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0002g0193 a0001c0001t0002g0328 a0001c0001t0001g0006 a0001c0001t0002g0193 a0001c0001t0002g0328	4	350	0.0114	36	c.42 others(47): Show c.4246_*4247insTATATATATATATATATATATATATATATATACA CA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(29): Show GTGTGTGTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0037 a0001c0001t0013g0037	1	350	0.0029	36	c.42 others(47): Show c.4246_*4247insTATATATATATATATATATATATATATATACACA CA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0272 a0001c0001t0006g0272	1	350	0.0029	36	c.42 others(47): Show c.4246_*4247insTATATATATATATATACACACACACACACACACA CA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0028 a0003c0003t0005g0028	1	350	0.0029	36	c.42 others(47): Show c.4222_*4223insAAAATATATATATATATATATATATATATATATA TA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3120		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0002 a0003c0003t0005g0002	1	350	0.0029	36	c.42 others(47): Show c.4222_*4223insAAAAAATATATATATATATATATATATATATATA TA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3120		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0042 a0005c0005t0001g0042	1	350	0.0029	36	c.42 others(47): Show c.4222_*4223insAAAAAAAATATATATATATATATATATATATATA TA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3120		chr1	TogoVar
MCRIP2_chr16_636828_653474	637257	T T	TGCGGCAG others(29): Show TGCGGCAGGGGCGGCAGGGGCGGCAGGGGCGGCAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03471.hp2 HG01884.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	2	420	0.0048	36	c.-47 others(47): Show c.-4735_-4734insGCGGCAGGGGCGGCAGGGGCGGCAGGGGCGGCAG GG	MCRIP2	ENSG00000172366.20	transcript	ENST00000307650.9	protein_coding		4570		chr16	TogoVar
MCTP1_chr5_94698690_95290094	94947577	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02071.hp1 HG00140.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0024 a0001c0001t0010g0057 a0001c0001t0005g0024 a0001c0001t0010g0057	2	98	0.0204	36	c.982 others(53): Show c.982-5151_982-5150insCTCTCTCTATATATATATATATATATAT ATATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	3/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94947577	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	98	0.0102	36	c.982 others(53): Show c.982-5151_982-5150insCTATATATATATATATATATATATATAT ATATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	3/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95078022	T T	TCATCCAT others(29): Show TCATCCATCCATCCATCCATGTATCTGTCTATCCATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp2 HG02071.hp2 others(22): Show HG00099.hp2 HG01243.hp2 HG02071.hp2 HG02083.hp2 HG02165.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03139.hp2 HG03492.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18948.hp2 NA18952.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0012 a0002c0005 a0002c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0039 a0001c0002t0001 a0001c0002t0006 a0001c0003t0003 a0001c0003t0005 a0001c0003t0011 a0001c0003t0029 a0001c0004t0006 a0001c0004t0008 a0001c0004t0031 a0001c0006t0014 a0001c0009t0004 a0001c0012t0038 a0002c0005t0003 a0002c0005t0005 a0002c0008t0002	a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0003g0021 others(22): Show a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0003g0021 a0001c0001t0003g0078 a0001c0001t0013g0050 a0001c0001t0015g0028 a0001c0001t0015g0030 a0001c0001t0016g0040 a0001c0001t0039g0029 a0001c0002t0001g0047 a0001c0002t0006g0023 a0001c0002t0006g0079 a0001c0003t0003g0069 a0001c0003t0005g0026 a0001c0003t0011g0086 a0001c0003t0029g0043 a0001c0004t0006g0041 a0001c0004t0008g0080 a0001c0004t0031g0058 a0001c0006t0014g0054 a0001c0009t0004g0014 a0001c0012t0038g0033 a0002c0005t0003g0059 a0002c0005t0005g0060 a0002c0008t0002g0039	25	98	0.2551	36	c.721 others(55): Show c.721-60539_721-60538insGATGGATAGACAGATACATGGATGGA TGGATGGATG	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94243654	C C	CACATATG others(29): Show CACATATGCGTATATATACACATATATGTATACACAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	276	0.0036	36	c.-66 others(55): Show c.-66+12006_-66+12041dupTACACATATATGTATACACATACATA TGCGTATATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCUR1_chr6_13781557_13819557	13814641	T T	TGCGGGGA others(29): Show TGCGGGGACGAGACGGGATGGCTAGTCTCGGGGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02015.hp1 HG02258.hp2 others(11): Show HG01884.hp2 HG02015.hp1 HG02258.hp2 HG02280.hp2 HG02647.hp1 HG02896.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 NA18961.hp2 NA19074.hp2 NA19076.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0021 others(6): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0021 a0001c0001t0023 a0001c0001t0027 a0001c0001t0037 a0001c0001t0063 a0001c0001t0084 a0001c0001t0088	a0001c0001t0004g0137 a0001c0001t0011g0138 a0001c0001t0011g0140 others(10): Show a0001c0001t0004g0137 a0001c0001t0011g0138 a0001c0001t0011g0140 a0001c0001t0011g0141 a0001c0001t0011g0143 a0001c0001t0021g0133 a0001c0001t0023g0029 a0001c0001t0027g0139 a0001c0001t0027g0142 a0001c0001t0037g0136 a0001c0001t0063g0135 a0001c0001t0084g0134 a0001c0001t0088g0144	14	424	0.0330	36	c.-21 others(45): Show c.-213_-212insGGCACCCCGAGACTAGCCATCCCGTCTCGTCCCCGC	MCUR1	ENSG00000050393.12	transcript	ENST00000379170.9	protein_coding		85		chr6	TogoVar
MCU_chr10_72687143_72892694	72805101	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	210	0.0048	36	c.151 others(55): Show c.151-29234_151-29199dupTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDFIC_chr7_114917094_115024917	115007630	G G	GTGTGTAT others(29): Show GTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0055 a0001c0001t0022g0055	1	334	0.0030	36	c.494 others(53): Show c.494-8057_494-8056insGTGTATATATATATATATATATATATAT ATATATAT	MDFIC	ENSG00000135272.13	transcript	ENST00000393486.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
MDFI_chr6_41633468_41659244	41643548	G G	GGGAAGGA others(29): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	462	0.0022	36	c.77- others(51): Show c.77-2547_77-2546insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGA	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MDFI_chr6_41633468_41659244	41643572	A A	AGGAAGGA others(29): Show AGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0190 a0001c0001t0007g0190	1	462	0.0022	36	c.77- others(51): Show c.77-2547_77-2546insAGGAAGGAGGGAGGGAGGGAGGGAGGGAGG GAAGGA	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MDFI_chr6_41633468_41659244	41643572	A A	AGGAGGGA others(29): Show AGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	462	0.0022	36	c.77- others(51): Show c.77-2551_77-2550insGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGA	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MDFI_chr6_41633468_41659244	41643576	A A	AGGAAGGA others(29): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG02723.hp2 others(3): Show HG00099.hp2 HG00733.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0181 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0181 a0001c0001t0001g0257 a0001c0001t0001g0258	6	462	0.0130	36	c.77- others(51): Show c.77-2547_77-2546insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAGGGA	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MDFI_chr6_41633468_41659244	41643576	A A	AGGAAGGA others(29): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	462	0.0022	36	c.77- others(51): Show c.77-2547_77-2546insAGGAAGGAAGGAAGGAAGGAAGGAAGGAGG GAGGGA	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MDGA2_chr14_46835092_47680605	46960874	C C	CATAAGTT others(29): Show CATAAGTTTTATATATACATATATGTATATATATTTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0025 a0002c0002t0019g0025	1	120	0.0083	36	c.182 others(55): Show c.1820-3232_1820-3231insTAAATATATATACATATATGTATATA TAAAACTTAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47000400	A A	AATATATA others(29): Show AATATATATATTTATATATATATATTTATATATAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01192.hp2 HG01358.hp1 others(13): Show HG00323.hp2 HG01192.hp2 HG01358.hp1 HG01891.hp2 HG01978.hp2 HG02135.hp2 HG02451.hp1 HG02559.hp1 HG02965.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA18966.hp2 NA18993.hp2 NA19043.hp2 NA20129.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0003 others(1): Show a0001c0001 a0002c0002 a0004c0003 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0025 a0001c0001t0027 a0002c0002t0013 a0004c0003t0002 a0004c0003t0003 a0005c0007t0004	a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0062 others(13): Show a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0003g0038 a0001c0001t0006g0041 a0001c0001t0007g0023 a0001c0001t0016g0002 a0001c0001t0025g0087 a0001c0001t0027g0054 a0002c0002t0013g0084 a0004c0003t0002g0036 a0004c0003t0003g0035 a0005c0007t0004g0009	16	120	0.1333	36	c.181 others(57): Show c.1819+34610_1819+34611insATTTATATATAAATATATATATAT AAATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47000400	A A	AATATATA others(29): Show AATATATATATTTATATATATATATTTATATATACAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0005	1	120	0.0083	36	c.181 others(57): Show c.1819+34610_1819+34611insATGTATATATAAATATATATATAT AAATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47013772	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0087 a0001c0001t0025g0087	1	120	0.0083	36	c.181 others(57): Show c.1819+21238_1819+21239insTATATATATATATATATATATATA TATATATATATA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47224283	T T	TGATATAG others(29): Show TGATATAGATATAGATATAGATATAGATATAGATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	120	0.0083	36	c.421 others(53): Show c.421-6124_421-6089dupTATATCTATATCTATATCTATATCTATA TCTATATC	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	2/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(29): Show TATATATATATATATATATATATATATACATACATAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0013	1	120	0.0083	36	c.281 others(55): Show c.281-34196_281-34195insGTATGTATGTATATATATATATATAT ATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	120	0.0083	36	c.281 others(55): Show c.281-34196_281-34195insGTATGTGTATATATATATATATATAT ATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335747	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02451.hp1 HG02896.hp1 others(1): Show HG01517.hp2 HG02451.hp1 HG02896.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0023 others(1): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0023 a0001c0001t0025	a0001c0001t0003g0079 a0001c0001t0015g0046 a0001c0001t0023g0033 others(1): Show a0001c0001t0003g0079 a0001c0001t0015g0046 a0001c0001t0023g0033 a0001c0001t0025g0087	4	120	0.0333	36	c.281 others(55): Show c.281-34198_281-34197insGTGTATATATATATATATATATATAT ATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47609428	C C	CATATATA others(29): Show CATATATATATATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0022 a0001c0001t0018g0022	1	120	0.0083	36	c.280 others(55): Show c.280+65088_280+65089insATATATATATATATATATATGTATAT ATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDM2_chr12_68803177_68850544	68847196	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA18943.hp2 HG02922.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0314 a0001c0001t0022g0276 a0001c0001t0001g0314 a0001c0001t0022g0276	2	388	0.0052	36	c.73 others(47): Show c.7347_*7348insTATATATATATATATATATATATATATATATATA TA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1653		chr12	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(29): Show ATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0213 a0001c0048t0001g0213	1	290	0.0035	36	c.139 others(55): Show c.13956+748_13956+749insAAAAAAAAAAAAAAAATATATATATA TATATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
ME1_chr6_83205402_83436051	83283227	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0011	1	272	0.0037	36	c.705 others(55): Show c.705-29490_705-29489insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	272	0.0037	36	c.363 others(53): Show c.363-5797_363-5796insTATATATATATATATATAGAGAGAGAGA GAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	272	0.0037	36	c.363 others(53): Show c.363-5797_363-5796insTATATATAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	272	0.0037	36	c.363 others(53): Show c.363-5797_363-5796insTAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME3_chr11_86436108_86677616	86475874	T T	TATATATA others(29): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	320	0.0031	36	c.810 others(55): Show c.810-10675_810-10674insCTCTCTCTCTCTCTCTCTCTCTATAT ATATATATAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	7/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTGTATGT others(29): Show GTGTATGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02056.hp2 HG02071.hp2 others(4): Show HG01943.hp1 HG02056.hp2 HG02071.hp2 HG02523.hp2 HG03831.hp2 NA18949.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0002c0008 a0001c0002 a0002c0005 a0002c0008	a0001c0002t0001 a0001c0002t0002 a0002c0005t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0002c0005t0001 a0002c0008t0002	a0001c0002t0001g0020 a0001c0002t0001g0035 a0001c0002t0002g0222 others(4): Show a0001c0002t0001g0020 a0001c0002t0001g0035 a0001c0002t0002g0222 a0001c0002t0002g0256 a0002c0005t0001g0062 a0002c0005t0001g0157 a0002c0008t0002g0265	7	320	0.0219	36	c.184 others(51): Show c.184-926_184-925insTATATATATATATATATATATATATATACA CATACA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTGTATGT others(29): Show GTGTATGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19000.hp1 NA18991.hp2 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0036 a0001c0002t0002g0247 a0001c0002t0001g0036 a0001c0002t0002g0247	2	320	0.0063	36	c.184 others(51): Show c.184-926_184-925insTATATATATATATATATATATATATACACA CATACA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MECOM_chr3_169078507_169668712	169180793	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18966.hp2 HG06807.hp1 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0011 a0001c0003 a0002c0011	a0001c0003t0006 a0002c0011t0011 a0001c0003t0006 a0002c0011t0011	a0001c0003t0006g0122 a0002c0011t0011g0021 a0001c0003t0006g0122 a0002c0011t0011g0021	2	160	0.0125	36	c.376 others(55): Show c.376-36962_376-36961insTATATATATATATATATATATATATA TATATATATA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169180794	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02132.hp1 HG02922.hp2 others(1): Show HG02056.hp1 HG02132.hp1 HG02922.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007	a0001c0001t0004g0063 a0001c0001t0005g0101 a0001c0001t0006g0121 others(1): Show a0001c0001t0004g0063 a0001c0001t0005g0101 a0001c0001t0006g0121 a0001c0001t0007g0134	4	160	0.0250	36	c.376 others(55): Show c.376-36963_376-36962insATATATATATATATATATATATATAT ATATATATAT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169507650	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0029 a0001c0001t0012g0029	1	160	0.0063	36	c.38- others(55): Show c.38-126127_38-126126insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MED13L_chr12_115953576_116282693	116096354	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	254	0.0039	36	c.479 others(51): Show c.479+314_479+315insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13_chr17_61937605_62070278	62008016	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0121 a0002c0005t0001g0121	1	326	0.0031	36	c.196 others(55): Show c.1967+2533_1967+2534insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	9/29			chr17	TogoVar
MED16_chr19_862963_898187	872969	C C	CAGGGCTC others(29): Show CAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGTGGGGG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	56	0.0179	36	c.190 others(53): Show c.1905+444_1905+479dupCCCCCACCTCGGAGCCCTCCCCCACCTC GGAGCCCT	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15			chr19	TogoVar
MED16_chr19_862963_898187	873276	T T	TGGGACTC others(29): Show TGGGACTCCAAGCAGGGGCGGGACTCCAAGTAGGGGC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	56	0.0179	36	c.190 others(53): Show c.1905+137_1905+172dupGCCCCTACTTGGAGTCCCGCCCCTGCTT GGAGTCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15			chr19	TogoVar

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Search Results (Total: 8848 hits)