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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MGMT_chr10_129462241_129775983	129646754	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	194	0.0052	32	c.126 others(51): Show c.126-61140_126-61139insATATATATATATATATATATATATAT ATTTTT		MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr10	TogoVar
MGST2_chr4_139660819_139709243	139702844	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01106.hp1 HG02165.hp1 others(2): Show HG00544.hp1 HG01106.hp1 HG02165.hp1 NA19003.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0097 a0001c0001t0001g0319 a0001c0001t0001g0326 others(2): Show a0001c0001t0001g0097 a0001c0001t0001g0319 a0001c0001t0001g0326 a0001c0001t0002g0217 a0001c0001t0002g0220	5	440	0.0114	32	c.230 others(47): Show c.230-585_230-584insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		MGST2	ENSG00000085871.9	transcript	ENST00000265498.6	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr4	TogoVar
MGST3_chr1_165626234_165661136	165634770	T T	TCTCCCTC others(25): Show TCTCCCTCCCTCTCCCTCCCTCCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02922.hp1 others(7): Show HG02055.hp2 HG02145.hp1 HG02922.hp1 HG02965.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0076 a0001c0001t0002g0078 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0147	10	346	0.0289	32	c.-8+ others(47): Show c.-8+3502_-8+3503insTCCCTCCCTCCCTCCCTCTCCCTCCCTCCC TC		MGST3	ENSG00000143198.13	transcript	ENST00000367889.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
MIA2_chr14_39228915_39355694	39277694	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0282 a0004c0006t0001g0282	1	368	0.0027	32	c.201 others(49): Show c.2019+650_2019+651insATATATGTGTGTATATATATATATATAT ATAT		MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr14	TogoVar
MIA2_chr14_39228915_39355694	39298413	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0238 a0006c0005t0002g0238	1	368	0.0027	32	c.249 others(51): Show c.2497-1421_2497-1420insTATATATATATATATATATATATATA TATATA		MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	13/28					INFO_REALIGN_3_PRIME	chr14	TogoVar
MIA2_chr14_39228915_39355694	39298413	T T	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA21309.hp2 NA19043.hp1 NA21309.hp2	a0003 a0021 a0003 a0021	a0003c0049 a0021c0036 a0003c0049 a0021c0036	a0003c0049t0002 a0021c0036t0001 a0003c0049t0002 a0021c0036t0001	a0003c0049t0002g0102 a0021c0036t0001g0257 a0003c0049t0002g0102 a0021c0036t0001g0257	2	368	0.0054	32	c.249 others(51): Show c.2497-1450_2497-1449insTTATATATATATATATATATATATAT ATATAT		MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	13/28					INFO_REALIGN_3_PRIME	chr14	TogoVar
MIA2_chr14_39228915_39355694	39298442	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0196 a0001c0034t0001g0196	1	368	0.0027	32	c.249 others(51): Show c.2497-1421_2497-1420insTATATATATATATATATATATATATA TAAAAA		MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	13/28					INFO_REALIGN_3_PRIME	chr14	TogoVar
MIA2_chr14_39228915_39355694	39298442	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp1 HG01993.hp1 others(8): Show HG00621.hp2 HG00733.hp1 HG01993.hp1 HG02074.hp2 HG02647.hp2 HG03688.hp2 NA18944.hp2 NA19002.hp1 NA19009.hp1 NA19062.hp1 NA19077.hp1	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0014	a0001c0002 a0005c0007 a0008c0008 others(1): Show a0001c0002 a0005c0007 a0008c0008 a0014c0016	a0001c0002t0001 a0005c0007t0001 a0005c0007t0002 others(2): Show a0001c0002t0001 a0005c0007t0001 a0005c0007t0002 a0008c0008t0001 a0014c0016t0002	a0001c0002t0001g0161 a0001c0002t0001g0179 a0001c0002t0001g0181 others(8): Show a0001c0002t0001g0161 a0001c0002t0001g0179 a0001c0002t0001g0181 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0225 a0005c0007t0001g0171 a0005c0007t0001g0191 a0005c0007t0002g0218 a0008c0008t0001g0312 a0014c0016t0002g0253	11	368	0.0299	32	c.249 others(51): Show c.2497-1421_2497-1420insTATATATATATATATATATATATATA TATAAA		MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	13/28					INFO_REALIGN_3_PRIME	chr14	TogoVar
MIA2_chr14_39228915_39355694	39298442	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATGTAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG01975.hp1 others(10): Show HG01123.hp2 HG01167.hp1 HG01975.hp1 HG02129.hp2 NA18972.hp2 NA18978.hp2 NA18979.hp2 NA18986.hp1 NA18989.hp2 NA18998.hp2 NA19062.hp2 NA19065.hp2 NA19088.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0003 a0003c0004 a0005c0017 a0001c0003 a0003c0004 a0005c0017	a0001c0003t0001 a0003c0004t0001 a0005c0017t0001 a0001c0003t0001 a0003c0004t0001 a0005c0017t0001	a0001c0003t0001g0118 a0001c0003t0001g0274 a0001c0003t0001g0276 others(10): Show a0001c0003t0001g0118 a0001c0003t0001g0274 a0001c0003t0001g0276 a0001c0003t0001g0285 a0001c0003t0001g0291 a0001c0003t0001g0316 a0001c0003t0001g0319 a0001c0003t0001g0326 a0003c0004t0001g0258 a0003c0004t0001g0260 a0003c0004t0001g0295 a0003c0004t0001g0306 a0005c0017t0001g0313	13	368	0.0353	32	c.249 others(51): Show c.2497-1421_2497-1420insTATATATATATATATATATATATATA TGTAAA		MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	13/28					INFO_REALIGN_3_PRIME	chr14	TogoVar
MIB1_chr18_21735792_21875953	21860098	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0095 a0001c0001t0009g0095	1	308	0.0033	32	c.288 others(51): Show c.2880+1479_2880+1480insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		MIB1	ENSG00000101752.13	transcript	ENST00000261537.7	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr18	TogoVar
MICAL1_chr6_109439062_109460772	109448097	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02074.hp1 HG02280.hp2 others(4): Show HG01928.hp1 HG02074.hp1 HG02280.hp2 HG02717.hp1 HG02965.hp2 HG02976.hp2 NA19007.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0026 a0002c0002t0001g0088 a0004c0004t0001g0032 a0002c0002t0001g0026 a0002c0002t0001g0088 a0004c0004t0001g0032	7	434	0.0161	32	c.185 others(49): Show c.1855+105_1855+106insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		MICAL1	ENSG00000135596.18	transcript	ENST00000358807.8	protein_coding	13/24						chr6	TogoVar
MICALL2_chr7_1429359_1464470	1437342	A A	AAGGTTAA others(25): Show AAGGTTAAGTACCTTGGCTGAGGACACACAGCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp2 HG01884.hp1 others(1): Show HG00642.hp2 HG01123.hp2 HG01884.hp1 HG03669.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0012 a0001c0007t0001g0096 a0001c0007t0001g0222 a0001c0007t0001g0012 a0001c0007t0001g0096 a0001c0007t0001g0222	4	280	0.0143	32	c.247 others(49): Show c.2476+161_2476+192dupGGCTGTGTGTCCTCAGCCAAGGTACTTA ACCT		MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	14/16						chr7	TogoVar
MID1_chrX_10440556_10625585	10465214	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03139.hp1 HG02809.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0125 a0001c0002t0006g0135 a0001c0002t0006g0125 a0001c0002t0006g0135	2	165	0.0121	32	c.128 others(51): Show c.1285+4482_1285+4483insGTATATATATATATATATATATATAT ATATAT		MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding	7/9						chrX	TogoVar
MID2_chrX_107820866_107936637	107845525	A A	ACACACAC others(25): Show ACACACACTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	181	0.0055	32	c.720 others(49): Show c.720+4141_720+4142insACACACTCTCTCTCTCTCTCTCTCTCTC TCTC		MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	2/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
MID2_chrX_107820866_107936637	107845525	A A	ACACTCTC others(25): Show ACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03139.hp1 HG02145.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0004 a0001c0001t0001g0005	2	181	0.0111	32	c.720 others(49): Show c.720+4141_720+4142insACTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC		MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	2/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
MINAR1_chr15_79427336_79477304	79437936	T T	TGGATAGT others(25): Show TGGATAGTGAGTGTGTGGGGTGTGGATGGGGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0257 a0001c0004t0004g0257	1	390	0.0026	32	c.-51 others(49): Show c.-51+5398_-51+5399insATAGTGAGTGTGTGGGGTGTGGATGGGG TGGG		MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr15	TogoVar
MINDY2_chr15_58766302_58866900	58852287	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0250 a0001c0001t0020g0250	1	384	0.0026	32	c.173 others(49): Show c.1737+340_1737+341insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
MIS12_chr17_5481566_5495811	5486363	C C	CCCCACCG others(25): Show CCCCACCGGGGCCCCCCCCCCCTCCGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0003 a0002c0003t0002g0003	1	438	0.0023	32	c.-75 others(41): Show c.-756_-755insCCCACCGGGGCCCCCCCCCCCTCCGCCCCCCA		MIS12	ENSG00000167842.16	transcript	ENST00000611091.5	protein_coding					202		chr17	TogoVar
MITF_chr3_69931592_69973332	69950513	T T	TATATGCA others(25): Show TATATGCATATATACATGGATGTATGCATATAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03710.hp1 HG02683.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0186 a0001c0001t0002g0146 a0001c0001t0002g0186	2	386	0.0052	32	c.560 others(49): Show c.560-1250_560-1219dupGGATGTATGCATATAGATATGCATATAT ACAT		MITF	ENSG00000187098.18	transcript	ENST00000394351.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr3	TogoVar
MIX23_chr3_122354591_122388231	122356134	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02080.hp2 HG03492.hp1 others(2): Show HG02040.hp2 HG02080.hp2 HG03492.hp1 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0022 a0001c0001t0004 a0001c0001t0010 a0001c0001t0022	a0001c0001t0004g0042 a0001c0001t0004g0159 a0001c0001t0010g0007 others(1): Show a0001c0001t0004g0042 a0001c0001t0004g0159 a0001c0001t0010g0007 a0001c0001t0022g0040	5	420	0.0119	32	c.37 others(43): Show c.3734_*3735insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		MIX23	ENSG00000160124.9	transcript	ENST00000291458.9	protein_coding					3456		chr3	TogoVar
MKI67_chr10_128091659_128131423	128129525	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0002	a0003c0001t0002g0070 a0003c0001t0002g0070	1	408	0.0025	32	c.-35 others(43): Show c.-3517_-3516insTATATATATATATATATATATATATATATATA		MKI67	ENSG00000148773.14	transcript	ENST00000368654.8	protein_coding					3103		chr10	TogoVar
MKLN1_chr7_131322876_131501632	131411906	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18966.hp2 NA18960.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0256 a0001c0001t0013g0231 a0001c0001t0002g0256 a0001c0001t0013g0231	2	320	0.0063	32	c.781 others(47): Show c.781+554_781+555insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
MKLN1_chr7_131322876_131501632	131499780	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	320	0.0031	32	c.12 others(45): Show c.12052_*12053insATATATATATATATATATATATATATATATAT		MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding					3149		chr7	TogoVar
MKX_chr10_27667874_27750819	27711494	T T	TTTCTCTC others(25): Show TTTCTCTCTCTCTCTCTCTCTCTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0226 a0001c0001t0006g0226	1	354	0.0028	32	c.838 others(51): Show c.838+22961_838+22962insGAAGGAAGGGAGAGAGAGAGAGAGAG AGAGAA		MKX	ENSG00000150051.14	transcript	ENST00000419761.6	protein_coding	5/6						chr10	TogoVar
MLC1_chr22_50054391_50090426	50064040	A A	AGCACCCC others(25): Show AGCACCCCACCCCACAGGCCACTCACCTCCCCG	frameshift_variant frameshift_variant	HIGH	HG03831.hp1 HG03831.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0007 a0006c0008t0007	a0006c0008t0007g0119 a0006c0008t0007g0119	1	212	0.0047	32	c.105 others(41): Show c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGTGC	p.Ala others(5): Show p.Ala355fs	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	11/12	1183/3457	1052/1134	351/377			chr22	TogoVar
MLC1_chr22_50054391_50090426	50081009	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02451.hp1 HG02886.hp2 others(5): Show HG01255.hp2 HG02451.hp1 HG02886.hp2 HG03927.hp1 NA18967.hp1 NA19070.hp1 NA19087.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0004c0004t0004	a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0188 others(4): Show a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0188 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0009g0011 a0004c0004t0004g0164	8	212	0.0377	32	c.268 others(47): Show c.268-644_268-613dupCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT		MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	3/11						chr22	TogoVar
MLF1_chr3_158566194_158611456	158607230	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03942.hp2 HG04204.hp2 HG03704.hp2 HG03942.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0212 a0002c0002t0002g0233 a0002c0002t0002g0005 a0002c0002t0002g0212 a0002c0002t0002g0233	3	380	0.0079	32	c.20 others(43): Show c.2028_*2029insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		MLF1	ENSG00000178053.21	transcript	ENST00000466246.7	protein_coding					775		chr3	TogoVar
MLH3_chr14_75008775_75056467	75035985	A A	ACTTGATT others(25): Show ACTTGATTACTTTTTTTTACATGCTTCTAACAG	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	262	0.0038	32	c.364 others(51): Show c.3643+2354_3643+2355insCTGTTAGAAGCATGTAAAAAAAAGTA ATCAAG		MLH3	ENSG00000119684.16	transcript	ENST00000355774.7	protein_coding	6/12						chr14	TogoVar
MLIP_chr6_54106443_54271280	54109920	T T	TCTTCCTT others(25): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	248	0.0040	32	c.-15 others(43): Show c.-1560_-1559insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC		MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding					1522		chr6	TogoVar
MLIP_chr6_54106443_54271280	54109924	T T	TCTTCCTT others(25): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01192.hp1 HG01257.hp1 others(4): Show HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG02683.hp1 HG02738.hp1 NA18970.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0003c0002t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0002g0043 others(4): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0002g0043 a0002c0003t0001g0106 a0002c0003t0001g0135 a0003c0002t0001g0013 a0003c0002t0001g0203	7	248	0.0282	32	c.-15 others(43): Show c.-1556_-1555insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC		MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding					1518		chr6	TogoVar
MLIP_chr6_54106443_54271280	54109924	T T	TCTTTCTT others(25): Show TCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0164 a0008c0007t0001g0164	1	248	0.0040	32	c.-15 others(43): Show c.-1556_-1555insCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTC		MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding					1518		chr6	TogoVar
MLIP_chr6_54106443_54271280	54251828	T T	TATATATA others(25): Show TATATATATTATAACATATAATATATAATATAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01069.hp1 HG02165.hp2 others(1): Show HG00621.hp2 HG01069.hp1 HG02165.hp2 HG02451.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0083 a0001c0001t0001g0193 a0001c0001t0001g0202 others(1): Show a0001c0001t0001g0083 a0001c0001t0001g0193 a0001c0001t0001g0202 a0002c0003t0001g0131	4	248	0.0161	32	c.292 others(51): Show c.2923-5375_2923-5344dupTATAACATATAATATATAATATAAAT ATATAT		MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
MLLT10_chr10_21529232_21748630	21689565	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	192	0.0052	32	c.169 others(51): Show c.1699+7332_1699+7333insTATGTATATATATATATATATATATA TATATA		MLLT10	ENSG00000078403.17	transcript	ENST00000307729.12	protein_coding	13/22					INFO_REALIGN_3_PRIME	chr10	TogoVar
MLLT10_chr10_21529232_21748630	21712203	C C	CATTTATT others(25): Show CATTTATTTATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03139.hp2 NA19043.hp1 HG02486.hp1 HG03139.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0033	3	192	0.0156	32	c.170 others(51): Show c.1700-1549_1700-1548insATTTATTTATTTATTTATTTATTTAT TTATTT		MLLT10	ENSG00000078403.17	transcript	ENST00000307729.12	protein_coding	13/22					INFO_REALIGN_3_PRIME	chr10	TogoVar
MLPH_chr2_237482251_237560322	237524302	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02300.hp1 HG02559.hp1 others(1): Show HG00642.hp2 HG02300.hp1 HG02559.hp1 HG03453.hp1	a0006 a0009 a0017 a0006 a0009 a0017	a0006c0006 a0009c0011 a0017c0020 a0006c0006 a0009c0011 a0017c0020	a0006c0006t0001 a0006c0006t0003 a0009c0011t0015 others(1): Show a0006c0006t0001 a0006c0006t0003 a0009c0011t0015 a0017c0020t0002	a0006c0006t0001g0115 a0006c0006t0003g0120 a0009c0011t0015g0254 others(1): Show a0006c0006t0001g0115 a0006c0006t0003g0120 a0009c0011t0015g0254 a0017c0020t0002g0173	4	286	0.0140	32	c.676 others(49): Show c.676-1280_676-1279insTATATATATATATATATATATATATATA TATA		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543197	G G	GGGGGACA others(25): Show GGGGGACAGTGGCAAGTGGGGACATTGGTGAGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0097 a0002c0002t0018g0097	1	286	0.0035	32	c.153 others(49): Show c.1539+541_1539+542insGACAGTGGCAAGTGGGGACATTGGTGAG TGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543318	G G	GGCACGGT others(25): Show GGCACGGTAGTGAGTGGGGGGACAGTGGTGAAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0026 a0026	a0026c0040 a0026c0040	a0026c0040t0001 a0026c0040t0001	a0026c0040t0001g0269 a0026c0040t0001g0269	1	286	0.0035	32	c.153 others(49): Show c.1539+660_1539+661insCACGGTAGTGAGTGGGGGGACAGTGGTG AATG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543405	G G	GGGGGGAC others(25): Show GGGGGGACAGTGGTGAGGGGACAGTAGTGAGTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG02896.hp2 others(2): Show HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02970.hp1 HG03486.hp1	a0002 a0003 a0002 a0003	a0002c0008 a0003c0003 a0002c0008 a0003c0003	a0002c0008t0002 a0002c0008t0003 a0003c0003t0001 others(1): Show a0002c0008t0002 a0002c0008t0003 a0003c0003t0001 a0003c0003t0002	a0002c0008t0002g0093 a0002c0008t0003g0024 a0003c0003t0001g0091 others(2): Show a0002c0008t0002g0093 a0002c0008t0003g0024 a0003c0003t0001g0091 a0003c0003t0002g0110 a0003c0003t0002g0257	5	286	0.0175	32	c.153 others(49): Show c.1539+750_1539+751insGACAGTGGTGAGGGGACAGTAGTGAGTA GGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543510	G G	GGCACAGT others(25): Show GGCACAGTAGTGAGTGGGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0059	1	286	0.0035	32	c.153 others(49): Show c.1539+852_1539+853insCACAGTAGTGAGTGGGGGGACAGTGGTG AGTG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543778	G G	GGTGAGTG others(25): Show GGTGAGTGGGGACAGTGGTGAGTGGGCACGGTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0035 a0035	a0035c0030 a0035c0030	a0035c0030t0001 a0035c0030t0001	a0035c0030t0001g0035 a0035c0030t0001g0035	1	286	0.0035	32	c.153 others(51): Show c.1539+1128_1539+1129insGACAGTGGTGAGTGGGCACGGTAGTG AGTGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543786	G G	GGGGGACA others(25): Show GGGGGACAGTGGCAAGTGGGGACATTGGTGAGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	286	0.0035	32	c.153 others(51): Show c.1539+1128_1539+1129insGGGACAGTGGCAAGTGGGGACATTGG TGAGTG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543820	G G	GGCACGGT others(25): Show GGCACGGTAGTGAGTGGGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0187 a0004c0005t0004g0187	1	286	0.0035	32	c.153 others(51): Show c.1539+1162_1539+1163insCACGGTAGTGAGTGGGGGGACAGTGG TGAGTG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543820	G G	GGGACAGT others(25): Show GGGACAGTGGTGAGTGGGGGGACAGTGGCAAGT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0182 a0004c0005t0002g0182	1	286	0.0035	32	c.153 others(51): Show c.1539+1163_1539+1164insACAGTGGTGAGTGGGGGGACAGTGGC AAGTGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544163	G G	GGGACAGT others(25): Show GGGACAGTGGTGAGTGGAGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	286	0.0035	32	c.153 others(51): Show c.1539+1506_1539+1507insACAGTGGTGAGTGGAGGGACAGTGGT GAGTGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544384	G G	GGGGGACA others(25): Show GGGGGACAGTGGCAAGTGGGCACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	286	0.0035	32	c.153 others(51): Show c.1539+1728_1539+1729insGACAGTGGCAAGTGGGCACAGTGGTG AGTGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544485	G G	GGGGGACA others(25): Show GGGGGACAGTGGTGAGTGGGCACGGTAGTGAGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18906.hp2 HG02809.hp1 NA18906.hp2	a0002 a0004 a0002 a0004	a0002c0045 a0004c0005 a0002c0045 a0004c0005	a0002c0045t0001 a0004c0005t0001 a0002c0045t0001 a0004c0005t0001	a0002c0045t0001g0028 a0004c0005t0001g0137 a0002c0045t0001g0028 a0004c0005t0001g0137	2	286	0.0070	32	c.153 others(51): Show c.1539+1830_1539+1831insACAGTGGTGAGTGGGCACGGTAGTGA GTGGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLXIPL_chr7_73588202_73629522	73602126	G G	GCCTTCCT others(25): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	276	0.0036	32	c.902 others(49): Show c.902-2432_902-2431insAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGG		MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	7/16						chr7	TogoVar
MLXIPL_chr7_73588202_73629522	73602130	G G	GCCTGCCT others(25): Show GCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0185 a0001c0008t0001g0185	1	276	0.0036	32	c.902 others(49): Show c.902-2436_902-2435insAAGGAAGGAAGGCAGGCAGGCAGGCAGG CAGG		MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	7/16						chr7	TogoVar
MLXIPL_chr7_73588202_73629522	73602130	G G	GCCTGCCT others(25): Show GCCTGCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01975.hp2 HG02602.hp1 others(5): Show HG01167.hp2 HG01975.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG03195.hp2 NA19000.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0048 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0127 a0001c0001t0001g0164 a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0007t0001g0053	8	276	0.0290	32	c.902 others(49): Show c.902-2436_902-2435insAAGGAAGGAAGGAAGGAAGGAAGGAAGG CAGG		MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	7/16						chr7	TogoVar
MLXIPL_chr7_73588202_73629522	73602130	G G	GCCTTCCT others(25): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00738.hp1 others(19): Show HG00408.hp2 HG00558.hp2 HG00738.hp1 HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01993.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG03209.hp2 HG03491.hp1 HG03710.hp2 NA18939.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp2 NA18998.hp1 NA19060.hp2 NA19088.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0037 others(19): Show a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0102 a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0252 a0001c0001t0001g0269 a0001c0014t0001g0103	22	276	0.0797	32	c.902 others(49): Show c.902-2467_902-2436dupAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGG		MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	7/16						chr7	TogoVar

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Search Results (Total: 10000 hits)