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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(103): Show GTATATATATATATATATATATATATATATATATACACACACACTATATA TATACACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGT GTGTATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0259 a0001c0007t0009g0259	1	340	0.0029	110	c.120 others(129): Show c.1201-5491_1201-5490insCACACACACTATATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATATATA TATATATATATATATATATATATATATATATATA	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(103): Show GTATATATATATATATATATATATATATATATATACACACACTATATATA CACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGT GTATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19087.hp2 HG00609.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0166 a0001c0001t0005g0040 a0001c0001t0005g0166	2	340	0.0059	110	c.120 others(129): Show c.1201-5491_1201-5490insCACACACTATATATACACACACACAT GCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATATATA TATATATATATATATATATATATATATATATATA	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(103): Show GTATATATATATATATATATATATATATATATATACACACACTATATATA CACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGT GTGTATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0313 a0001c0001t0007g0313	1	340	0.0029	110	c.120 others(129): Show c.1201-5491_1201-5490insCACACACTATATATACACACACACAT GCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTGTATATATA TATATATATATATATATATATATATATATATATA	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(103): Show GTATATATATATATATATATATATATATATATATATACACACACTATATA TACACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGT GTGTATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18941.hp1 NA18945.hp2 others(3): Show HG00438.hp2 NA18941.hp1 NA18945.hp2 NA18950.hp2 NA18951.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0002 a0001c0001t0005g0093 a0001c0001t0005g0094 others(3): Show a0001c0001t0002g0002 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0096 a0001c0001t0005g0098	6	340	0.0177	110	c.120 others(129): Show c.1201-5490_1201-5489insACACACACTATATATACACACACACA TGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATATAT ATATATATATATATATATATATATATATATATAT	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(103): Show GTATATATATATATATATATATATATATATATATATATACACACACTATA TATACACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGT GTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0188 a0001c0001t0008g0188	1	340	0.0029	110	c.120 others(129): Show c.1201-5490_1201-5489insATACACACACTATATATACACACACA CATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATAT ATATATATATATATATATATATATATATATATAT	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATGTAT others(103): Show GTATGTATATATATATATATATATATATATATACACACACACACTATATA TACACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGT GTATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	340	0.0029	110	c.120 others(129): Show c.1201-5522_1201-5521insGTATATATATATATATATATATATAT ATACACACACACACTATATATACACACACACATGCATATACATATGTGTT GTGTGTGTGTGTTTGTGTGTGTATATATATATAT	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATGTAT others(103): Show GTATGTATATATATATATATATATATATATATATACACACACACACTATA TATACACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGT GTGTATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0145 a0001c0004t0002g0145	1	340	0.0029	110	c.120 others(129): Show c.1201-5522_1201-5521insGTATATATATATATATATATATATAT ATATACACACACACACTATATATACACACACACATGCATATACATATGTG TTGTGTGTGTGTGTTTGTGTGTGTATATATATAT	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142067986	A A	ATTTATAT others(103): Show ATTTATATATATATATATATATATATAAATATATATATATATATATATAA ATATATATATATATATATATATATATAAATATATATATATATATATATAT ATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0001 a0004c0018t0001	a0004c0018t0001g0019 a0004c0018t0001g0019	1	316	0.0032	110	c.500 others(127): Show c.5004+564_5004+565insATATATATATATATATATATATAAATAT ATATATATATATATATAAATATATATATATATATATATATATATAAATAT ATATATATATATATATATATATATTTTTTTTT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT4C_chr12_85950667_86261391	86110296	C C	CTATATAT others(103): Show CTATATATATAGTCTATATATATAGTCTATATATATATAGTCTATATATA TAGTCTATATATATATAGTCTATATATATAGACTATATATATATAGTCTA TATATAGTCTA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0029 a0001c0001t0028 a0001c0001t0029	a0001c0001t0028g0001 a0001c0001t0029g0003 a0001c0001t0028g0001 a0001c0001t0029g0003	2	186	0.0108	110	c.-56 others(129): Show c.-56-60574_-56-60573insTAGACTATATATAGACTATATATATA TAGTCTATATATATAGACTATATATATATAGACTATATATATAGACTATA TATATATAGACTATATATATAGACTATATATATA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MLC1_chr22_50054391_50090426	50057640	T T	TGGGGTCA others(103): Show TGGGGTCAGGTCTGGGTTGGGGGGTCAGGTCTGGGTTGAGCGGAAGGTCT GGGTTGGGGGTCAGGTCTGGGTTGGGGGATCAGGTCTGGGTTGGGGGTCA GGTCTGGGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03471.hp2 HG02257.hp1 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0025 a0004c0004t0022 a0001c0001t0025 a0004c0004t0022	a0001c0001t0025g0190 a0004c0004t0022g0163 a0001c0001t0025g0190 a0004c0004t0022g0163	2	212	0.0094	110	c.39 others(121): Show c.3942_*3943insCAACCCAGACCTGACCCCCAACCCAGACCTGATC CCCCAACCCAGACCTGACCCCCAACCCAGACCTTCCGCTCAACCCAGACC TGACCCCCCAACCCAGACCTGACCCC	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding		1750		chr22	TogoVar
MLPH_chr2_237482251_237560322	237543999	T T	TGGTGAGT others(103): Show TGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGCACAG TGGTGAGTGGGCACAGTGGTGAGTGGGGACAGTGTGTGGGGGGACAGTGG TGAGTGGGGAC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0001 a0002c0043t0001	a0002c0043t0001g0061 a0002c0043t0001g0061	1	286	0.0035	110	c.153 others(129): Show c.1539+1340_1539+1341insGGTGAGTGGGGGGACAGTGGCAAGTG GGCACAGTGGTGAGTGGGCACAGTGGTGAGTGGGCACAGTGGTGAGTGGG GACAGTGTGTGGGGGGACAGTGGTGAGTGGGGAC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237544923	T T	TGGGGGGA others(103): Show TGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGGGACAG TGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02258.hp1 HG01346.hp1 HG02258.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0003 a0014c0023t0016 a0014c0023t0003 a0014c0023t0016	a0014c0023t0003g0259 a0014c0023t0016g0104 a0014c0023t0003g0259 a0014c0023t0016g0104	2	286	0.0070	110	c.154 others(129): Show c.1540-1680_1540-1679insGGGACAGTGGTGAGTGGAGGGGACAG TGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGG ACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLXIPL_chr7_73588202_73629522	73588490	T T	TATATATT others(103): Show TATATATTATAATATATAATTATATATTATATATATTATAATATATAATT ATATATTATATTATATATTATAATATATAATTATATATTATAATATATAT AATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0204 a0001c0006t0002g0204	1	276	0.0036	110	c.53 others(121): Show c.5374_*5375insTATATATTATTATATATATTATAATATATAATTA TATATTATAATATATAATATAATATATAATTATATATTATAATATATATA ATATATAATTATATATTATAATATAT	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding		4711		chr7	TogoVar
MN1_chr22_27743277_27806756	27805701	G G	GCACACAC others(103): Show GCACACACACACACACACACACATATACACCTCCATAGCGTGTGGCTATG TCAGCACACACACACACACACACACATATACACCTCCATAGCGTGTGGCT ATGTCAGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02055.hp1 HG02055.hp2 others(3): Show HG02015.hp2 HG02055.hp1 HG02055.hp2 HG03195.hp1 NA19077.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0069 a0002c0002t0002 a0003c0004t0001	a0001c0001t0001g0134 a0001c0001t0002g0116 a0001c0001t0004g0281 others(3): Show a0001c0001t0001g0134 a0001c0001t0002g0116 a0001c0001t0004g0281 a0001c0001t0069g0373 a0002c0002t0002g0255 a0003c0004t0001g0247	6	394	0.0152	110	c.-51 others(121): Show c.-5159_-5158insTGTGCTGACATAGCCACACGCTATGGAGGTGTAT ATGTGTGTGTGTGTGTGTGTGTGCTGACATAGCCACACGCTATGGAGGTG TATATGTGTGTGTGTGTGTGTGTGTG	MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding		3946		chr22	TogoVar
MN1_chr22_27743277_27806756	27805701	G G	GCACACAC others(103): Show GCACACACACACACACACACATATACACCTCCATAGCGTGTGGCTATGTC AGCACACACACACACACACACACACATATACACCTCCATAGCGTGTGGCT ATGTCAGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(130): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18967.hp2 NA18971.hp2 NA18994.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19065.hp2 NA19066.hp1 NA19087.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0012	a0001c0001 a0001c0005 a0001c0009 others(7): Show a0001c0001 a0001c0005 a0001c0009 a0001c0012 a0001c0013 a0002c0002 a0002c0003 a0003c0004 a0006c0026 a0012c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0037 a0001c0001t0055 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0005t0002 a0001c0005t0006 a0001c0009t0002 a0001c0009t0021 a0001c0012t0001 a0001c0012t0020 a0001c0013t0001 a0001c0013t0048 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0030 a0002c0003t0009 a0002c0003t0014 a0002c0003t0015 a0002c0003t0019 a0002c0003t0039 a0002c0003t0041 a0003c0004t0001 a0003c0004t0002 a0003c0004t0005 a0003c0004t0016 a0006c0026t0001 a0012c0018t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(125): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0002g0002 a0001c0001t0002g0066 a0001c0001t0002g0075 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0114 a0001c0001t0002g0125 a0001c0001t0002g0147 a0001c0001t0002g0156 a0001c0001t0002g0163 a0001c0001t0002g0172 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0223 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0005g0077 a0001c0001t0005g0084 a0001c0001t0005g0145 a0001c0001t0005g0153 a0001c0001t0005g0162 a0001c0001t0005g0165 a0001c0001t0005g0170 a0001c0001t0006g0186 a0001c0001t0007g0173 a0001c0001t0008g0056 a0001c0001t0008g0067 a0001c0001t0008g0096 a0001c0001t0008g0200 a0001c0001t0008g0228 a0001c0001t0016g0110 a0001c0001t0020g0143 a0001c0001t0027g0154 a0001c0001t0029g0164 a0001c0001t0030g0169 a0001c0001t0037g0009 a0001c0001t0055g0198 a0001c0001t0059g0231 a0001c0001t0060g0171 a0001c0001t0061g0222 a0001c0001t0062g0063 a0001c0005t0002g0048 a0001c0005t0006g0049 a0001c0009t0002g0269 a0001c0009t0021g0006 a0001c0012t0001g0277 a0001c0012t0001g0278 a0001c0012t0020g0276 a0001c0013t0001g0047 a0001c0013t0048g0046 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0259 a0002c0002t0001g0264 a0002c0002t0002g0257 a0002c0002t0005g0253 a0002c0002t0005g0267 a0002c0002t0006g0266 a0002c0002t0007g0256 a0002c0002t0007g0261 a0002c0002t0030g0260 a0002c0003t0009g0022 a0002c0003t0009g0031 a0002c0003t0014g0029 a0002c0003t0014g0034 a0002c0003t0015g0023 a0002c0003t0015g0024 a0002c0003t0015g0025 a0002c0003t0015g0026 a0002c0003t0019g0032 a0002c0003t0019g0033 a0002c0003t0039g0028 a0002c0003t0041g0027 a0003c0004t0001g0239 a0003c0004t0001g0241 a0003c0004t0001g0245 a0003c0004t0002g0240 a0003c0004t0002g0242 a0003c0004t0002g0243 a0003c0004t0002g0246 a0003c0004t0005g0005 a0003c0004t0005g0244 a0003c0004t0016g0248 a0006c0026t0001g0275 a0012c0018t0002g0238	133	394	0.3376	110	c.-51 others(121): Show c.-5159_-5158insTGTGCTGACATAGCCACACGCTATGGAGGTGTAT ATGTGTGTGTGTGTGTGTGTGTGTGCTGACATAGCCACACGCTATGGAGG TGTATATGTGTGTGTGTGTGTGTGTG	MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding		3946		chr22	TogoVar
MN1_chr22_27743277_27806756	27805701	G G	GCACACAC others(103): Show GCACACACACACACACACACATATACACCTCCATAGTGTGTGGCTATGTC AGCACACACACACACACACACACACACATATACACCTCCATAGCGTGTGG CTATGTCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG03139.hp1 HG02622.hp1 HG02970.hp1 HG03139.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0014 a0001c0010t0024 a0001c0010t0040 a0001c0010t0014 a0001c0010t0024 a0001c0010t0040	a0001c0010t0014g0011 a0001c0010t0024g0013 a0001c0010t0040g0012 a0001c0010t0014g0011 a0001c0010t0024g0013 a0001c0010t0040g0012	3	394	0.0076	110	c.-51 others(121): Show c.-5159_-5158insTGCTGACATAGCCACACGCTATGGAGGTGTATAT GTGTGTGTGTGTGTGTGTGTGTGTGCTGACATAGCCACACACTATGGAGG TGTATATGTGTGTGTGTGTGTGTGTG	MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding		3946		chr22	TogoVar
MN1_chr22_27743277_27806756	27805752	G G	GCACACAC others(103): Show GCACACACACACACACACACACATATACACCTCCATAGCGTGTGGCTATG TCAGCACACACACACACACACACACACATATACACCTCCATAGCGTGTGG CTATGTCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02630.hp2 NA18906.hp1 HG01099.hp1 HG02630.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0002 a0001c0001t0058 a0001c0021t0007 a0001c0001t0002 a0001c0001t0058 a0001c0021t0007	a0001c0001t0002g0175 a0001c0001t0058g0233 a0001c0021t0007g0250 a0001c0001t0002g0175 a0001c0001t0058g0233 a0001c0021t0007g0250	3	394	0.0076	110	c.-52 others(121): Show c.-5210_-5209insTGCTGACATAGCCACACGCTATGGAGGTGTATAT GTGTGTGTGTGTGTGTGTGTGTGCTGACATAGCCACACGCTATGGAGGTG TATATGTGTGTGTGTGTGTGTGTGTG	MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding		3997		chr22	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(103): Show AATATATATATATATATATATATATGTATATATATATATATATATATATA TATATATATATATATATGTGTATATATATATATATATATATATGTATATA TATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0051 a0001c0001t0018g0051	1	320	0.0031	110	c.621 others(127): Show c.621+1912_621+1913insATATATATATATATATACATATATATAT ATATATATATATACACATATATATATATATATATATATATATATATATAT ATATATACATATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOBP_chr3_39462680_39508027	39469154	A A	ATGTGTGT others(103): Show ATGTGTGTGTATATATACATATATACATATGTGTGTGTATATATACATAT ATACATATGTGTGTGTATATACATATATACATATGTGTGTGTATATACAT ATATACATATG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	400	0.0025	110	c.-89 others(127): Show c.-89+1423_-89+1424insATATATACATATATACATATGTGTGTGT ATATATACATATATACATATGTGTGTGTATATACATATATACATATGTGT GTGTATATACATATATACATATGTGTGTGTGT	MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
MPPED1_chr22_43407014_43512848	43432754	A A	AGAGAGAG others(103): Show AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAA GAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0026 a0001c0001t0006g0026	1	250	0.0040	110	c.225 others(127): Show c.225-2277_225-2276insAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AAAGGGAGGAGAGGGAAAGAGAAAGGGAGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL42_chr12_93462514_93521214	93484971	C C	CATATATA others(103): Show CATATATATATACATATATATACATATATATATATACACACATATATATA CATATATATATATACACATATATATACATATATATATACACATATATATA TACATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19043.hp1 NA20129.hp1 HG02451.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0123 a0001c0001t0124 a0001c0001t0121 a0001c0001t0123 a0001c0001t0124	a0001c0001t0121g0129 a0001c0001t0123g0119 a0001c0001t0124g0120 a0001c0001t0121g0129 a0001c0001t0123g0119 a0001c0001t0124g0120	3	388	0.0077	110	c.220 others(127): Show c.220-2525_220-2524insTATATATATACATATATATACATATATA TATATACACACATATATATACATATATATATATACACATATATATACATA TATATATACACATATATATATACATATATATA	MRPL42	ENSG00000198015.14	transcript	ENST00000549982.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
MRPL42_chr12_93462514_93521214	93484971	C C	CATATATA others(103): Show CATATATATATACATATATATACATATATATATATATACACATATATATA CATATATATATATACACATATATATACATATATATATACACATATATATA CATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03490.hp1 HG02818.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0120 a0001c0001t0114 a0001c0001t0120	a0001c0001t0114g0123 a0001c0001t0120g0133 a0001c0001t0114g0123 a0001c0001t0120g0133	2	388	0.0052	110	c.220 others(127): Show c.220-2525_220-2524insTATATATATACATATATATACATATATA TATATATACACATATATATACATATATATATATACACATATATATACATA TATATATACACATATATATACATATATATATA	MRPL42	ENSG00000198015.14	transcript	ENST00000549982.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
MRPL42_chr12_93462514_93521214	93484971	C C	CATATATA others(103): Show CATATATATATACATATATATACATATATATATATATACACATATATATA CATATATATATATACACATATATATACATATATATATACACATATATATA TACATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0125 a0001c0001t0125	a0001c0001t0125g0130 a0001c0001t0125g0130	1	388	0.0026	110	c.220 others(127): Show c.220-2525_220-2524insTATATATATACATATATATACATATATA TATATATACACATATATATACATATATATATATACACATATATATACATA TATATATACACATATATATATACATATATATA	MRPL42	ENSG00000198015.14	transcript	ENST00000549982.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSLN_chr16_755734_773862	767988	G G	GAGGGGCG others(103): Show GAGGGGCGCGCGGAGGGGGCCGCGTGGAGGGGGGGCGCGTGGAGGGGGGG CGAGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGCGTGGAGGGGGG CGCGTGGAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02895.hp1 HG02976.hp2 HG01884.hp2 HG02895.hp1 HG02976.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0019 a0003c0004t0003g0352 a0003c0004t0003g0019 a0003c0004t0003g0352	3	388	0.0077	110	c.159 others(127): Show c.1597-391_1597-390insAGGGGCGCGCGGAGGGGGCCGCGTGGAG GGGGGGCGCGTGGAGGGGGGGCGAGTGGAGGGGGGCGCGTGGGGGGGGCG CATGGGGGGCGTGGAGGGGGGCGCGTGGAGGA	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17			chr16	TogoVar
MTERF4_chr2_241090571_241107287	241091516	G G	GCGGGGTC others(103): Show GCGGGGTCCTCCCCGTGTGCACTGCCATATGGTAGAATCCTGGTGCTCTA AGAACGCGGGGTCCTCCCCGTGTGCACTGCCATATGGTAGAATCCTGGTG CTCTAAGAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02258.hp1 others(8): Show HG01884.hp2 HG02257.hp1 HG02258.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02818.hp2 HG02922.hp1 HG03209.hp1 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	11	398	0.0276	110	c.44 others(121): Show c.4481_*4482insTGTTCTTAGAGCACCAGGATTCTACCATATGGCA GTGCACACGGGGAGGACCCCGCGTTCTTAGAGCACCAGGATTCTACCATA TGGCAGTGCACACGGGGAGGACCCCG	MTERF4	ENSG00000122085.17	transcript	ENST00000391980.7	protein_coding		4054		chr2	TogoVar
MTHFD2_chr2_74193615_74222565	74203843	C C	CTAGTTTA others(103): Show CTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTTTAGTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	414	0.0024	110	c.102 others(127): Show c.102-1797_102-1796insTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTT	MTHFD2	ENSG00000065911.13	transcript	ENST00000394053.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTSS1_chr8_124545784_124733473	124602188	C C	CATATATA others(103): Show CATATATATATATATATATACACATATATATATACACATATATATATATA TATACACATATATATATACACATATATATATATATATACACATATATATA TACACATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0190 a0001c0001t0016g0190	1	286	0.0035	110	c.209 others(129): Show c.209-10954_209-10953insATATATGTGTATATATATATGTGTAT ATATATATATATATGTGTATATATATATGTGTATATATATATATATATGT GTATATATATATGTGTATATATATATATATATAT	MTSS1	ENSG00000170873.19	transcript	ENST00000518547.6	protein_coding	3/13			chr8	TogoVar
MUC4_chr3_195741771_195816929	195762509	C C	CGGCCCTG others(103): Show CGGCCCTGCACCGCCACGCACCGGGCCCTGCACCGCAACGCACCCGGCCC TGCACCGCAACGCACCGGGCCCTGCACCGCCACGCACCCGGCCCTGCACC GCCACGCACCG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01891.hp2 HG02145.hp2 others(2): Show HG01192.hp2 HG01891.hp2 HG02145.hp2 HG02258.hp2 HG02976.hp2	a0058 a0059 a0060 others(2): Show a0058 a0059 a0060 a0061 a0062	a0058c0200 a0059c0201 a0060c0199 others(2): Show a0058c0200 a0059c0201 a0060c0199 a0061c0198 a0062c0197	a0058c0200t0015 a0059c0201t0009 a0060c0199t0009 others(2): Show a0058c0200t0015 a0059c0201t0009 a0060c0199t0009 a0061c0198t0008 a0062c0197t0009	a0058c0200t0015g0234 a0059c0201t0009g0237 a0060c0199t0009g0224 others(2): Show a0058c0200t0015g0234 a0059c0201t0009g0237 a0060c0199t0009g0224 a0061c0198t0008g0222 a0062c0197t0009g0243	5	249	0.0201	110	c.143 others(129): Show c.14345-256_14345-255insCGGTGCGTGGCGGTGCAGGGCCGGGT GCGTGGCGGTGCAGGGCCCGGTGCGTTGCGGTGCAGGGCCGGGTGCGTTG CGGTGCAGGGCCCGGTGCGTGGCGGTGCAGGGCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	13/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195762597	C C	CGGCCCTG others(103): Show CGGCCCTGCACCGCCACGCACCGGGCCCGGCACCACAACGCACTCGGCCC TGCACCGCCACGCACCGGGCCCTGCACCGCAACGCACCCGGCCCTGCACC GCAACGCACCG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp1 HG03225.hp1 others(1): Show HG02647.hp1 HG03041.hp1 HG03225.hp1 NA18906.hp1	a0035 a0051 a0054 others(1): Show a0035 a0051 a0054 a0056	a0035c0151 a0051c0139 a0054c0141 others(1): Show a0035c0151 a0051c0139 a0054c0141 a0056c0142	a0035c0151t0007 a0051c0139t0001 a0054c0141t0001 others(1): Show a0035c0151t0007 a0051c0139t0001 a0054c0141t0001 a0056c0142t0007	a0035c0151t0007g0186 a0051c0139t0001g0068 a0054c0141t0001g0069 others(1): Show a0035c0151t0007g0186 a0051c0139t0001g0068 a0054c0141t0001g0069 a0056c0142t0007g0006	4	249	0.0161	110	c.143 others(129): Show c.14344+257_14344+258insCGGTGCGTTGCGGTGCAGGGCCGGGT GCGTTGCGGTGCAGGGCCCGGTGCGTGGCGGTGCAGGGCCGAGTGCGTTG TGGTGCCGGGCCCGGTGCGTGGCGGTGCAGGGCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	13/24			chr3	TogoVar
MUSK_chr9_110663791_110811558	110689713	A A	ATATATAG others(103): Show ATATATAGTTATATATAAATATATAACTATATATAGTTATATATAAATAT ATAACTATATATAGTTATATATTTATATATAACTATATATAGTTATATAT AAATATATAAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0010 a0001c0001t0009g0010	1	326	0.0031	110	c.358 others(127): Show c.358+2450_358+2451insAGTTATATATAAATATATAACTATATAT AGTTATATATAAATATATAACTATATATAGTTATATATTTATATATAACT ATATATAGTTATATATAAATATATAACTATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MXRA7_chr17_76674566_76715965	76702873	G G	GTATATAT others(103): Show GTATATATATATATATATATATATATATATATACGTATATATATATACGT ATATATATATATACACGTATATATATATACGTATATATATATATATATAT ATATATACACA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	416	0.0024	110	c.342 others(127): Show c.342+7731_342+7732insTGTGTATATATATATATATATATATATA TACGTATATATATATACGTGTATATATATATATACGTATATATATATACG TATATATATATATATATATATATATATATATA	MXRA7	ENSG00000182534.14	transcript	ENST00000449428.7	protein_coding	1/3			chr17	TogoVar
MXRA7_chr17_76674566_76715965	76702873	G G	GTATATAT others(103): Show GTATATATATATATATATATATATATATATATATACGTATATATATATAC GTATATATATATATATACACGTATATATATATACGTATATATATATATAT ATATATACACA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0162	1	416	0.0024	110	c.342 others(127): Show c.342+7731_342+7732insTGTGTATATATATATATATATATATACG TATATATATATACGTGTATATATATATATATACGTATATATATATACGTA TATATATATATATATATATATATATATATATA	MXRA7	ENSG00000182534.14	transcript	ENST00000449428.7	protein_coding	1/3			chr17	TogoVar
MXRA7_chr17_76674566_76715965	76702873	G G	GTATATAT others(103): Show GTATATATATATATATATATATATATATATATATATACGTATATATATAT ACGTATATATATATATACACGTATATATATATACGTATATATATATATAT ATATATACACA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02080.hp1 NA18955.hp2 others(1): Show HG02071.hp1 HG02080.hp1 NA18955.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0024 a0001c0001t0004g0025	4	416	0.0096	110	c.342 others(127): Show c.342+7731_342+7732insTGTGTATATATATATATATATATATACG TATATATATATACGTGTATATATATATATACGTATATATATATACGTATA TATATATATATATATATATATATATATATATA	MXRA7	ENSG00000182534.14	transcript	ENST00000449428.7	protein_coding	1/3			chr17	TogoVar
MXRA7_chr17_76674566_76715965	76702873	G G	GTATATAT others(103): Show GTATATATATATATATATATATATATATATATATATATACGTATATATAT ATACGTATATATATATATACGTATATATATATACGTATATATATATATAT ATATATACACA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0146 a0001c0001t0004g0146	1	416	0.0024	110	c.342 others(127): Show c.342+7731_342+7732insTGTGTATATATATATATATATATATACG TATATATATATACGTATATATATATATACGTATATATATATACGTATATA TATATATATATATATATATATATATATATATA	MXRA7	ENSG00000182534.14	transcript	ENST00000449428.7	protein_coding	1/3			chr17	TogoVar
MXRA8_chr1_1347691_1363555	1350946	G G	GGAGGGGG others(103): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGGCCGCAGGAGCG ACGGGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	338	0.0030	110	c.26 others(121): Show c.2657_*2658insACTCCCCCCGTCGCTCCTGCGGCCCCCCTCCTCA CTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCCCTCCTCACTCCCCCCGT CGCTCCTGCCCGGTCCAGGCCCCCTC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1744		chr1	TogoVar
MYO16_chr13_108624611_109213005	108991647	T T	TAGTGAGG others(103): Show TAGTGAGGACCACCTGACTCACTGCTTGCATAGCATGAGAAGACACAAGT ATAGCTAGTGAGGACCACCTGACTCACTGCTCGCATAGCATGAGAAGACA CAAGTATAGCA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0002 a0003c0019t0002	a0003c0019t0002g0099 a0003c0019t0002g0099	1	152	0.0066	110	c.237 others(127): Show c.2370-649_2370-648insCGCATAGCATGAGAAGACACAAGTATAG CAAGTGAGGACCACCTGACTCACTGCTTGCATAGCATGAGAAGACACAAG TATAGCTAGTGAGGACCACCTGACTCACTGCT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYOM2_chr8_2040046_2150456	2086178	G G	GCCCCCTA others(103): Show GCCCCCTACTGTCGTGATCTCCACGTGGCCACACACTGTCATGATCTCTG TGTGGCCCACCGCTGTTGTGATCTCCGCGTGGCCCCTCACTGTCGTGATC TTTGCGTGGCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0070 a0002c0070	a0002c0070t0001 a0002c0070t0001	a0002c0070t0001g0176 a0002c0070t0001g0176	1	403	0.0025	110	c.164 others(127): Show c.1644+792_1644+793insCTACTGTCGTGATCTCCACGTGGCCACA CACTGTCATGATCTCTGTGTGGCCCACCGCTGTTGTGATCTCCGCGTGGC CCCTCACTGTCGTGATCTTTGCGTGGCCCCCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYZAP_chr15_57586904_57690364	57688996	T T	TATATGTG others(103): Show TATATGTGTACAGTGTACACATACAGAATATATGTGTACAGTGTACACAT ACAGAATATATGTGTACAGTGTACACATACAGAATATATGTGTACAGTGT ACACATACAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG02027.hp1 NA18979.hp1 HG01257.hp2 HG02027.hp1 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0163 a0001c0001t0001g0184 a0002c0002t0002g0044 a0001c0001t0001g0163 a0001c0001t0001g0184 a0002c0002t0002g0044	3	352	0.0085	110	c.44 others(121): Show c.4498_*4499insATATGTGTACAGTGTACACATACAGAATATATGT GTACAGTGTACACATACAGAATATATGTGTACAGTGTACACATACAGAAT ATATGTGTACAGTGTACACATACAGA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3633		chr15	TogoVar
NAA15_chr4_139296505_139396384	139314993	C C	CAGGTTAG others(103): Show CAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGT TAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGT TAGGTTAGGTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0304 a0001c0001t0005g0304	1	334	0.0030	110	c.54+ others(127): Show c.54+13164_54+13165insGTTAGGTTAGGTTAGGTTAGGTTAGGTT AGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTT AGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAALADL2_chr3_174854334_175815548	175013167	G G	GTAATATA others(103): Show GTAATATATATTTATATATAAATATGTATTACATATTTATATATAAATAT GTAATACATATTTATATATAAATATGTAAAATATATTTATATATATATAT ACATAAATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01978.hp1 HG00639.hp2 HG01074.hp1 HG01978.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0006 a0001c0001 a0003c0003 a0005c0006	a0001c0001t0002 a0003c0003t0001 a0005c0006t0018 a0001c0001t0002 a0003c0003t0001 a0005c0006t0018	a0001c0001t0002g0012 a0003c0003t0001g0056 a0005c0006t0018g0013 a0001c0001t0002g0012 a0003c0003t0001g0056 a0005c0006t0018g0013	3	64	0.0469	110	c.44- others(127): Show c.44-83618_44-83617insTATATTTATATATAAATATGTATTACAT ATTTATATATAAATATGTAATACATATTTATATATAAATATGTAAAATAT ATTTATATATATATATACATAAATATATAATA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175013167	G G	GTATTATA others(103): Show GTATTATATATTTATATATAAATATGTAATACATATTTATATATAAATAT GTAATACATATTTATATATAAATATGTAAAATATATTTATATATATATAT ACATAAATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01884.hp2 others(5): Show HG01167.hp1 HG01169.hp1 HG01884.hp2 HG02109.hp1 HG02717.hp2 HG02895.hp2 HG03130.hp1 HG03130.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0006 a0007 a0016	a0001c0001 a0003c0003 a0004c0002 others(3): Show a0001c0001 a0003c0003 a0004c0002 a0006c0010 a0007c0014 a0016c0015	a0001c0001t0012 a0003c0003t0004 a0004c0002t0002 others(5): Show a0001c0001t0012 a0003c0003t0004 a0004c0002t0002 a0004c0002t0008 a0004c0002t0021 a0006c0010t0019 a0007c0014t0004 a0016c0015t0002	a0001c0001t0012g0031 a0003c0003t0004g0046 a0004c0002t0002g0048 others(5): Show a0001c0001t0012g0031 a0003c0003t0004g0046 a0004c0002t0002g0048 a0004c0002t0008g0006 a0004c0002t0021g0003 a0006c0010t0019g0016 a0007c0014t0004g0040 a0016c0015t0002g0005	8	64	0.1250	110	c.44- others(127): Show c.44-83621_44-83620insTTATATATTTATATATAAATATGTAATA CATATTTATATATAAATATGTAATACATATTTATATATAAATATGTAAAA TATATTTATATATATATATACATAAATATATA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCAPD2_chr12_6489102_6536955	6504204	T T	TACATATA others(103): Show TACATATATATATATATACATATATACATATATATATATACATATATACA TATATATATACATATATACATATATATATATACATATATACATATATATA TACATATATAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0006 a0001c0026t0006	a0001c0026t0006g0268 a0001c0026t0006g0268	1	432	0.0023	110	c.128 others(127): Show c.128-5512_128-5511insCATATATATATATATACATATATACATA TATATATATACATATATACATATATATATACATATATACATATATATATA TACATATATACATATATATATACATATATACA	NCAPD2	ENSG00000010292.13	transcript	ENST00000315579.10	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCK1_chr3_136857208_136956606	136893196	A A	ACACACAC others(103): Show ACACACACACACACACACACACACCATATTTTCTTTACCCATTCGTTAAT TGATGGACATTTGGGCTGGTTCCATATTTTTGCAGTTGTGAATTGTGCTG CTGTAAACATG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02135.hp2 NA18939.hp1 others(8): Show HG00621.hp1 HG02135.hp2 NA18939.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18969.hp1 NA18973.hp2 NA18994.hp1 NA19012.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0043 a0001c0001t0001g0044 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0130	11	232	0.0474	110	c.-19 others(129): Show c.-19+30845_-19+30846insCACACACACACACACACACACCATAT TTTCTTTACCCATTCGTTAATTGATGGACATTTGGGCTGGTTCCATATTT TTGCAGTTGTGAATTGTGCTGCTGTAAACATGCA	NCK1	ENSG00000158092.7	transcript	ENST00000481752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCK2_chr2_105739912_105899272	105835388	C C	CATATATA others(103): Show CATATATATATACATATATATATGTATGTATATATATATATATATACGTA TATATATATACATACGTATATATATATATATATATATATATACGTATGTG TATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	334	0.0030	110	c.-17 others(129): Show c.-17+18786_-17+18787insCATATATATATGTATGTATATATATA TATATATACGTATATATATATACATACGTATATATATATATATATATATA TATACGTATGTGTATATATATATATATATATATA	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCK2_chr2_105739912_105899272	105835388	C C	CATATATA others(103): Show CATATATATATACATATATATATGTATGTATATATATATATATATACGTA TATATATATATATACGTATATATATATATATATATATATATACGTATGTA TATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	334	0.0030	110	c.-17 others(129): Show c.-17+18786_-17+18787insCATATATATATGTATGTATATATATA TATATATACGTATATATATATATATACGTATATATATATATATATATATA TATACGTATGTATATATATATATATATATATATA	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCK2_chr2_105739912_105899272	105835388	C C	CGTATATA others(103): Show CGTATATATATGTATATATATATACGTGTATATATATGTGTATATATATA TATATACGTGTATATATATGTATATATATATATATATACGTGTATATATA TGTATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	334	0.0030	110	c.-17 others(129): Show c.-17+18775_-17+18776insGTATATATATGTATATATATATACGT GTATATATATGTGTATATATATATATATACGTGTATATATATGTATATAT ATATATATATACGTGTATATATATGTATATATAT	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4			chr2	TogoVar
NCOR1_chr17_16024157_16220534	16095637	G G	GGCCAGCC others(103): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCC CCCCCCCCGCCAGCCACCCCATCCGGGAGGGAGGTGGGGGGGGGGTCAGC CCCCCTGCCCA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19083.hp1 HG03579.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0128 a0001c0001t0007g0026 a0001c0001t0001g0128 a0001c0001t0007g0026	2	282	0.0071	110	c.282 others(129): Show c.2820+2729_2820+2730insTGGGCAGGGGGGCTGACCCCCCCCCC ACCTCCCTCCCGGATGGGGTGGCTGGCGGGGGGGGGGGGGGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095665	G G	GGGGGGGT others(103): Show GGGGGGGTCAGCCCCCCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGG GAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCAGCCAGCCGCCCCGTCC GGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	282	0.0036	110	c.282 others(129): Show c.2820+2701_2820+2702insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGTGGCT GGCGGGGGGGGGGGGGGGGGGGGGCTGACCCCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095665	G G	GGGGGGGT others(103): Show GGGGGGGTCAGCCCCCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGG AGGGAGGTGGGGGGGGGGTCAGCCCCCCTGCCCAGCCAGCCGCCCCGTCC GGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01952.hp2 HG02040.hp2 others(1): Show HG01256.hp1 HG01952.hp2 HG02040.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0100 a0001c0001t0001g0109 others(1): Show a0001c0001t0001g0064 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0136	4	282	0.0142	110	c.282 others(129): Show c.2820+2701_2820+2702insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGGGGGGGCTGACCCCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(103): Show GGGGGTCAGCCCCCCCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGG AGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCC GGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	282	0.0036	110	c.282 others(129): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar

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Search Results (Total: 10000 hits)