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
MEIS1_chr2_66430125_66578869	66473397	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02293.hp1 HG01243.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0216 a0001c0001t0004g0151 a0001c0001t0001g0216 a0001c0001t0004g0151	2	246	0.0081	27	c.742 others(44): Show c.742+9178_742+9179insAAAAAAAAAAAAAAATATATATATATA	MEIS1	ENSG00000143995.20	transcript	ENST00000272369.14	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
MEIS1_chr2_66430125_66578869	66473397	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	246	0.0041	27	c.742 others(44): Show c.742+9178_742+9179insAAAAAAAAAAATATATATATATATATA	MEIS1	ENSG00000143995.20	transcript	ENST00000272369.14	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
MEOX1_chr17_43635389_43666922	43657047	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	380	0.0026	27	c.469 others(44): Show c.469+4018_469+4019insGAAAGAAAGAAAGAAAGAAAGAAAGAA	MEOX1	ENSG00000005102.14	transcript	ENST00000318579.9	protein_coding	1/2			chr17	TogoVar
MERTK_chr2_111893607_112034561	111925292	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02895.hp1 HG02109.hp1 HG02895.hp1	a0005 a0006 a0005 a0006	a0005c0005 a0006c0007 a0005c0005 a0006c0007	a0005c0005t0003 a0006c0007t0003 a0005c0005t0003 a0006c0007t0003	a0005c0005t0003g0002 a0006c0007t0003g0064 a0005c0005t0003g0002 a0006c0007t0003g0064	2	288	0.0069	27	c.62- others(42): Show c.62-3827_62-3826insATATATATATATATATATATATTTTTT	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MERTK_chr2_111893607_112034561	111925293	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18957.hp2 HG04115.hp2 NA18957.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0038 a0003c0003t0001g0055 a0003c0003t0001g0038 a0003c0003t0001g0055	2	288	0.0069	27	c.62- others(42): Show c.62-3827_62-3826insATATATATATATATATATATATATATA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	1/18			chr2	TogoVar
METRNL_chr17_83074609_83100122	83090409	C C	CCCCGCCC others(20): Show CCCCGCCCCAGGGTGGGAGCCACACACA	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA18955.hp1 NA18956.hp1 others(6): Show HG02683.hp2 NA18955.hp1 NA18956.hp1 NA18961.hp2 NA18982.hp2 NA18984.hp1 NA18990.hp2 NA19064.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0318 a0001c0001t0001g0319 others(6): Show a0001c0001t0001g0289 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0360 a0001c0001t0001g0361	9	399	0.0226	27	c.557 others(44): Show c.557-2757_557-2756insCCGCCCCAGGGTGGGAGCCACACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090451	C C	CCCCGCCC others(20): Show CCCCGCCCCAGGGTGGGAGCCACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG00673.hp2 others(26): Show HG00408.hp1 HG00673.hp1 HG00673.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp2 HG02129.hp1 HG02293.hp1 HG02486.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG03492.hp2 NA18747.hp2 NA18939.hp1 NA18944.hp2 NA18954.hp1 NA18959.hp2 NA18967.hp1 NA18970.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA19004.hp2 NA19012.hp1 NA19067.hp1 NA19081.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(25): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0341 a0001c0001t0001g0377 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0374 a0001c0001t0003g0378 a0001c0001t0003g0379 a0001c0002t0001g0182 a0001c0002t0001g0357 a0001c0003t0002g0242 a0001c0003t0002g0376	29	399	0.0727	27	c.557 others(44): Show c.557-2715_557-2714insCCGCCCCAGGGTGGGAGCCACACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METTL14_chr4_118680392_118720430	118696117	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	392	0.0026	27	c.504 others(44): Show c.504-1063_504-1037dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL14	ENSG00000145388.15	transcript	ENST00000388822.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
METTL16_chr17_2411049_2516888	2417058	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0148 a0001c0001t0039g0148	1	298	0.0034	27	c.28 others(38): Show c.2885_*2911dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	10/10	2911		chr17	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAACA others(20): Show AACAAACAAAAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0210 a0001c0001t0041g0210	1	488	0.0021	27	c.67 others(36): Show c.671_*672insATATATTTTTTTTTTTTTTTTGTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAACA others(20): Show AACAAACAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03579.hp2 HG02615.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0019 a0001c0001t0009 a0001c0001t0019	a0001c0001t0009g0215 a0001c0001t0019g0390 a0001c0001t0009g0215 a0001c0001t0019g0390	2	488	0.0041	27	c.67 others(36): Show c.671_*672insATATATATTTTTTTTTTTTTTGTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAACA others(20): Show AACAAACAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02886.hp2 HG03491.hp2 others(3): Show HG02698.hp2 HG02886.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 NA19072.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0004c0006	a0001c0001t0009 a0002c0003t0004 a0002c0003t0100 others(2): Show a0001c0001t0009 a0002c0003t0004 a0002c0003t0100 a0002c0004t0004 a0004c0006t0015	a0001c0001t0009g0213 a0002c0003t0004g0053 a0002c0003t0100g0357 others(2): Show a0001c0001t0009g0213 a0002c0003t0004g0053 a0002c0003t0100g0357 a0002c0004t0004g0299 a0004c0006t0015g0240	6	488	0.0123	27	c.67 others(36): Show c.671_*672insATATATATATTTTTTTTTTTTGTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAACA others(20): Show AACAAACAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02895.hp1 HG01070.hp1 HG01071.hp1 HG02895.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0004 a0001c0001t0001 a0002c0004t0004	a0001c0001t0001g0023 a0002c0004t0004g0314 a0001c0001t0001g0023 a0002c0004t0004g0314	3	488	0.0062	27	c.67 others(36): Show c.671_*672insATATATATATATTTTTTTTTTGTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAACA others(20): Show AACAAACAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA19072.hp2 NA18970.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0058 a0001c0001t0003g0003 a0001c0001t0003g0058	2	488	0.0041	27	c.67 others(36): Show c.671_*672insATATATATATATATATTTTTTGTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAACA others(20): Show AACAAACAAACAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02155.hp2 HG03225.hp2 others(1): Show HG00642.hp2 HG02155.hp2 HG03225.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0011 a0001c0001t0043 others(1): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0043 a0002c0003t0005	a0001c0001t0003g0056 a0001c0001t0011g0035 a0001c0001t0043g0278 others(1): Show a0001c0001t0003g0056 a0001c0001t0011g0035 a0001c0001t0043g0278 a0002c0003t0005g0246	4	488	0.0082	27	c.67 others(36): Show c.671_*672insATATATATTTTTTTTTTGTTTGTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAACA others(20): Show AACAAACAAACAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA19057.hp2 NA19081.hp1 NA18977.hp1 NA19057.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0005 a0001c0001t0003 a0002c0004t0005	a0001c0001t0003g0014 a0002c0004t0005g0047 a0001c0001t0003g0014 a0002c0004t0005g0047	3	488	0.0062	27	c.67 others(36): Show c.671_*672insATATATATATTTTTTTTGTTTGTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAACA others(20): Show AACAAACAAACAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00597.hp1 others(55): Show HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG01981.hp1 HG02027.hp1 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02559.hp1 HG02602.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18963.hp2 NA18968.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18978.hp1 NA18981.hp2 NA18983.hp1 NA18991.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0052 a0001c0001t0070 a0001c0001t0075 a0001c0001t0082 a0001c0001t0101 a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0002c0004t0008 a0002c0004t0013 a0004c0010t0068	a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0117 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0002g0004 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0060 a0001c0001t0003g0324 a0001c0001t0003g0331 a0001c0001t0003g0342 a0001c0001t0003g0344 a0001c0001t0006g0085 a0001c0001t0007g0383 a0001c0001t0007g0389 a0001c0001t0010g0011 a0001c0001t0010g0266 a0001c0001t0011g0203 a0001c0001t0012g0054 a0001c0001t0015g0046 a0001c0001t0015g0241 a0001c0001t0034g0368 a0001c0001t0035g0063 a0001c0001t0038g0101 a0001c0001t0038g0102 a0001c0001t0052g0069 a0001c0001t0070g0152 a0001c0001t0075g0190 a0001c0001t0082g0207 a0001c0001t0101g0358 a0001c0002t0001g0027 a0001c0002t0002g0010 a0001c0002t0011g0036 a0001c0002t0011g0198 a0001c0002t0011g0200 a0002c0004t0008g0233 a0002c0004t0013g0268 a0002c0004t0013g0269 a0004c0010t0068g0100	58	488	0.1189	27	c.67 others(36): Show c.671_*672insATATATATATATTTTTTGTTTGTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAACA others(20): Show AACAAACAAACAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 NA19010.hp2 NA19057.hp1 others(1): Show HG03669.hp1 NA19010.hp2 NA19057.hp1 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0096 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0096 a0002c0004t0033	a0001c0001t0003g0060 a0001c0001t0006g0082 a0001c0001t0096g0292 others(1): Show a0001c0001t0003g0060 a0001c0001t0006g0082 a0001c0001t0096g0292 a0002c0004t0033g0352	4	488	0.0082	27	c.67 others(36): Show c.671_*672insATATATATATATATTTTGTTTGTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAACA others(20): Show AACAAACAAACAAACAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0337 a0001c0001t0003g0337	1	488	0.0021	27	c.67 others(36): Show c.671_*672insATATATATATTTTGTTTGTTTGTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL23_chr17_76721839_76738880	76728412	A A	ATTTGTTT others(20): Show ATTTGTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp1 HG02717.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	2	412	0.0049	27	c.-22 others(44): Show c.-22+1237_-22+1238insGTTTTTTTTTTTTTTTTTTTTTTTTTT	METTL23	ENSG00000181038.14	transcript	ENST00000341249.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
METTL26_chr16_629430_641305	637257	T T	TGCGGCAG others(20): Show TGCGGCAGGGGCGGCAGGGGCGGCAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02258.hp1 HG03654.hp2 others(2): Show HG01433.hp2 HG02258.hp1 HG03654.hp2 HG03927.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0003 a0001c0001t0001g0004	5	404	0.0124	27	c.-99 others(36): Show c.-994_-968dupCCCTGCCGCCCCTGCCGCCCCTGCCGC	METTL26	ENSG00000130731.16	transcript	ENST00000301686.13	protein_coding		953		chr16	TogoVar
METTL9_chr16_21594577_21662471	21605257	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19063.hp1 NA18944.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0303 a0001c0001t0010g0302 a0001c0001t0001g0303 a0001c0001t0010g0302	2	364	0.0055	27	c.165 others(44): Show c.165+5372_165+5398dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	METTL9	ENSG00000197006.15	transcript	ENST00000358154.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
METTL9_chr16_21594577_21662471	21622141	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA18957.hp2 HG01952.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0114 a0001c0001t0001g0048 a0001c0001t0001g0114	2	364	0.0055	27	c.567 others(44): Show c.567-2769_567-2768insTTTTTTTTTTTTTTTTTTTTTTTTTTT	METTL9	ENSG00000197006.15	transcript	ENST00000358154.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
MFGE8_chr15_88893683_88918379	88913993	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0118 a0001c0003t0006g0118	1	436	0.0023	27	c.-67 others(36): Show c.-675_-674insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding		615		chr15	TogoVar
MFSD11_chr17_76733119_76784341	76755812	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	348	0.0029	27	c.682 others(44): Show c.682+1726_682+1727insATATATATATATATATATATATATTTT	MFSD11	ENSG00000092931.12	transcript	ENST00000685175.1	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MFSD14B_chr9_94369569_94466042	94373681	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG02055.hp2 others(5): Show HG00099.hp1 HG00741.hp1 HG02055.hp2 HG02698.hp2 NA18948.hp2 NA18991.hp2 NA18995.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0144 others(5): Show a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0224 a0001c0001t0003g0169	8	350	0.0229	27	c.-11 others(38): Show c.-1139_-1138insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MFSD14B	ENSG00000148110.17	transcript	ENST00000375344.8	protein_coding		887		chr9	TogoVar
MGAM2_chr7_142106718_142227324	142114191	A A	AAGGAAGG others(20): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0019 a0002c0003t0001g0019	1	329	0.0030	27	c.-1+ others(42): Show c.-1+2385_-1+2386insGGAAGGAAGGAAGGAAGGAAGGAAGGA	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM2_chr7_142106718_142227324	142114195	A A	AAGGAAGG others(20): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02717.hp1 HG02015.hp2 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0039 a0002c0003t0001g0006 a0002c0002t0001g0039 a0002c0003t0001g0006	2	329	0.0061	27	c.-1+ others(42): Show c.-1+2389_-1+2390insGGAAGGAAGGAAGGAAGGAAGGAAGGA	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM2_chr7_142106718_142227324	142114199	A A	AAGGAAGG others(20): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18974.hp2 HG01891.hp1 NA18974.hp2	a0002 a0025 a0002 a0025	a0002c0003 a0025c0027 a0002c0003 a0025c0027	a0002c0003t0001 a0025c0027t0001 a0002c0003t0001 a0025c0027t0001	a0002c0003t0001g0324 a0025c0027t0001g0037 a0002c0003t0001g0324 a0025c0027t0001g0037	2	329	0.0061	27	c.-1+ others(42): Show c.-1+2393_-1+2394insGGAAGGAAGGAAGGAAGGAAGGAAGGA	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM2_chr7_142106718_142227324	142114203	A A	AAGGAAGG others(20): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0058 a0058	a0058c0059 a0058c0059	a0058c0059t0001 a0058c0059t0001	a0058c0059t0001g0015 a0058c0059t0001g0015	1	329	0.0030	27	c.-1+ others(42): Show c.-1+2397_-1+2398insGGAAGGAAGGAAGGAAGGAAGGAAGGA	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM2_chr7_142106718_142227324	142114207	A A	AAGGAAGG others(20): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01168.hp1 HG02004.hp2 HG01123.hp2 HG01168.hp1 HG02004.hp2	a0002 a0007 a0012 a0002 a0007 a0012	a0002c0003 a0007c0008 a0012c0012 a0002c0003 a0007c0008 a0012c0012	a0002c0003t0001 a0007c0008t0001 a0012c0012t0001 a0002c0003t0001 a0007c0008t0001 a0012c0012t0001	a0002c0003t0001g0002 a0007c0008t0001g0319 a0012c0012t0001g0320 a0002c0003t0001g0002 a0007c0008t0001g0319 a0012c0012t0001g0320	3	329	0.0091	27	c.-1+ others(42): Show c.-1+2401_-1+2402insGGAAGGAAGGAAGGAAGGAAGGAAGGA	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM2_chr7_142106718_142227324	142174715	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02015.hp1 others(1): Show HG01516.hp2 HG01517.hp1 HG02015.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0181 a0002c0003t0001g0003 a0002c0003t0001g0004 others(1): Show a0001c0001t0001g0181 a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0306	4	329	0.0122	27	c.368 others(44): Show c.3688-919_3688-918insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142045914	T T	TATATATT others(20): Show TATATATTATATATACATATAATATGTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0038 a0038	a0038c0063 a0038c0063	a0038c0063t0001 a0038c0063t0001	a0038c0063t0001g0063 a0038c0063t0001g0063	1	316	0.0032	27	c.249 others(46): Show c.2499-1865_2499-1864insTATATATACATATAATATGTAATATA T	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT4C_chr12_85950667_86261391	86004035	G G	GCCTCGCG others(20): Show GCCTCGCGTTTTAGAGTTTCCAGTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	186	0.0054	27	c.-6- others(44): Show c.-6-14484_-6-14483insAAAAACTGGAAACTCTAAAACGCGAGG	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	2/4			chr12	TogoVar
MGAT4C_chr12_85950667_86261391	86203971	A A	AGAAATAT others(20): Show AGAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0108 a0001c0001t0092g0108	1	186	0.0054	27	c.-57 others(46): Show c.-57+52267_-57+52268insATATATATATATATATATATATATTT C	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MGAT5_chr2_134249072_134459621	134334496	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0177 a0001c0001t0076g0177	1	282	0.0036	27	c.574 others(44): Show c.574-1698_574-1697insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT5_chr2_134249072_134459621	134381369	A A	AGATAGAT others(20): Show AGATAGATAAGATAAGATAAGATAAGAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0109 a0001c0002t0009g0109	1	282	0.0036	27	c.138 others(48): Show c.1380+18961_1380+18962insGATAGATAAGATAAGATAAGATAA GAT	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15			chr2	TogoVar
MGAT5_chr2_134249072_134459621	134387332	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	282	0.0036	27	c.138 others(48): Show c.1381-15655_1381-15654insATATATATATATATATATATATTT TTT	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT5_chr2_134249072_134459621	134387332	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0224 a0001c0001t0027g0224	1	282	0.0036	27	c.138 others(48): Show c.1381-15655_1381-15654insATATATATATATATATATATTTTT TTT	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT5_chr2_134249072_134459621	134387332	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0056 a0001c0001t0070g0056	1	282	0.0036	27	c.138 others(48): Show c.1381-15655_1381-15654insATATATATATATATATATTTTTTT TTT	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGA_chr15_41655405_41774940	41656344	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG04115.hp1 HG00544.hp2 HG04115.hp1	a0001 a0024 a0001 a0024	a0001c0001 a0024c0030 a0001c0001 a0024c0030	a0001c0001t0002 a0024c0030t0017 a0001c0001t0002 a0024c0030t0017	a0001c0001t0002g0148 a0024c0030t0017g0104 a0001c0001t0002g0148 a0024c0030t0017g0104	2	292	0.0069	27	c.-42 others(38): Show c.-4249_-4248insCTCTCTCTCTCTCTCTCTCTCTCTCTC	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding		4060		chr15	TogoVar
MGLL_chr3_127684066_127827515	127737630	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	314	0.0032	27	c.263 others(46): Show c.263-15091_263-15065dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	MGLL	ENSG00000074416.16	transcript	ENST00000265052.10	protein_coding	3/7			chr3	TogoVar
MGMT_chr10_129462241_129775983	129731486	A A	ATACACCC others(20): Show ATACACCCTGCATATGCAGGCTGCCTCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	194	0.0052	27	c.274 others(46): Show c.274+23459_274+23460insAGGCTGCCTCCTACACCCTGCATATG C	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MGRN1_chr16_4619826_4695972	4674626	C C	CTTTTTTT others(20): Show CTTTTTTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19011.hp2 HG00621.hp1 NA19011.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0331 a0004c0005t0001g0162 a0001c0001t0001g0331 a0004c0005t0001g0162	2	334	0.0060	27	c.955 others(42): Show c.955+978_955+979insCTTTTCTTTTCTTTTCTTTTTTTTTTT	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MGST2_chr4_139660819_139709243	139702844	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01099.hp2 HG01123.hp1 others(5): Show HG00438.hp2 HG01099.hp2 HG01123.hp1 HG03516.hp2 HG04228.hp2 NA18955.hp1 NA18980.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0029 a0001c0001t0001g0127 a0001c0001t0001g0160 others(5): Show a0001c0001t0001g0029 a0001c0001t0001g0127 a0001c0001t0001g0160 a0001c0001t0001g0185 a0001c0001t0001g0297 a0001c0001t0001g0362 a0001c0001t0001g0385 a0001c0001t0004g0317	8	440	0.0182	27	c.230 others(42): Show c.230-585_230-584insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MGST2	ENSG00000085871.9	transcript	ENST00000265498.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
MIA2_chr14_39228915_39355694	39238793	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0008 a0002c0001t0002g0008	1	368	0.0027	27	c.250 others(44): Show c.250-1750_250-1749insAAAAAAAAAAAAAAAAAAAAAAAAAAA	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MIA2_chr14_39228915_39355694	39298442	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0235 a0006c0005t0002g0235	1	368	0.0027	27	c.249 others(46): Show c.2497-1421_2497-1420insTATATATATATATATATATATATATA A	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MICAL1_chr6_109439062_109460772	109446428	T T	TGTGGTCT others(20): Show TGTGGTCTGGTCAGTGACCTGCCCAGGG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0108 a0002c0002t0001g0108	1	434	0.0023	27	c.230 others(42): Show c.2305-17_2305-16insCCCTGGGCAGGTCACTGACCAGACCAC	MICAL1	ENSG00000135596.18	transcript	ENST00000358807.8	protein_coding	18/24			chr6	TogoVar
MICAL3_chr22_17782649_18029561	17876797	A A	AGTTATGG others(20): Show AGTTATGGAGGTTAGGGAGGTTAGGGAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	274	0.0037	27	c.224 others(46): Show c.2242-4801_2242-4775dupCTCCCTAACCTCCCTAACCTCCATAA C	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876802	T T	TGGAGGTT others(20): Show TGGAGGTTAGGGAGGTTATGGAGGTTAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG00738.hp2 others(2): Show HG00639.hp2 HG00733.hp1 HG00738.hp2 HG02055.hp2 HG03654.hp2	a0001 a0002 a0029 a0001 a0002 a0029	a0001c0001 a0002c0003 a0029c0052 a0001c0001 a0002c0003 a0029c0052	a0001c0001t0001 a0002c0003t0001 a0002c0003t0004 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0004 a0029c0052t0001	a0001c0001t0001g0147 a0002c0003t0001g0112 a0002c0003t0004g0257 others(2): Show a0001c0001t0001g0147 a0002c0003t0001g0112 a0002c0003t0004g0257 a0002c0003t0004g0259 a0029c0052t0001g0230	5	274	0.0183	27	c.224 others(46): Show c.2242-4780_2242-4779insCTAACCTCCATAACCTCCCTAACCTC C	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar

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Search Results (Total: 7463 hits)