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
MAPK8IP1_chr11_45880651_45911465	45905475	T T	TCTTACTG others(37): Show TCTTACTGGGAAACGCGATGGCAATTCTGTAGAGAACAGAGCCAA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	392	0.0026	44	c.206 others(61): Show c.2064-173_2064-130dupCTTACTGGGAAACGCGATGGCAATTCTG TAGAGAACAGAGCCAA	MAPK8IP1	ENSG00000121653.11	transcript	ENST00000241014.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTTTATAT others(37): Show TTTTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0028 a0001c0001t0021g0028	1	102	0.0098	44	c.-32 others(65): Show c.-323+43464_-323+43465insTATATATATATATATATATATATA TATATATATATATATATAAA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF2_chr19_8408305_8444017	8429032	A A	ACCCTCCC others(37): Show ACCCTCCCACACCCACTTTGGTCTCCGTGCTACAGCCACACAGCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp2 HG01891.hp1 others(9): Show HG00323.hp1 HG01109.hp2 HG01891.hp1 HG02055.hp2 HG02451.hp1 HG02809.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03688.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0308 a0001c0001t0006g0347 a0001c0001t0006g0350 others(9): Show a0001c0001t0006g0308 a0001c0001t0006g0347 a0001c0001t0006g0350 a0001c0001t0009g0237 a0001c0001t0009g0325 a0001c0001t0009g0331 a0001c0001t0009g0333 a0001c0001t0009g0334 a0001c0001t0009g0348 a0001c0001t0009g0349 a0001c0001t0009g0351 a0001c0001t0009g0353	12	392	0.0306	44	c.373 others(61): Show c.373-1618_373-1575dupACACCCACTTTGGTCTCCGTGCTACAGC CACACAGCCCCCTCCC	MARCHF2	ENSG00000099785.11	transcript	ENST00000215555.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MARCHF3_chr5_126862714_127035558	126862857	C C	CCATAAAT others(37): Show CCATAAATTCAGTGCTCAGAAACAGACCCATGTTTATATGGAACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0289 a0001c0001t0025g0289	1	296	0.0034	44	c.77 others(55): Show c.7775_*7776insAGTTCCATATAAACATGGGTCTGTTTCTGAGCAC TGAATTTATG	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		4856		chr5	TogoVar
MARCHF4_chr2_216252865_216377483	216354891	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0312 a0001c0002t0044g0312	1	330	0.0030	44	c.516 others(63): Show c.516+14810_516+14853dupGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARCO_chr2_118937194_118999660	118986672	G G	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	394	0.0025	44	c.106 others(63): Show c.1064-3914_1064-3913insGGAAGGAAGGAAGGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MATK_chr19_3772973_3791381	3788097	T T	TTTATATT others(37): Show TTTATATTATATTATATATATTATATTATTAATATTTATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	434	0.0023	44	c.-20 others(55): Show c.-2081_-2080insTATAATATAAATATTAATAATATAATATATATAA TATAATATAA	MATK	ENSG00000007264.15	transcript	ENST00000310132.11	protein_coding		1717		chr19	TogoVar
MATN2_chr8_97864064_98041724	98037386	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0109 a0003c0015t0002g0109	1	318	0.0031	44	c.16 others(55): Show c.1674_*1675insTGTGTGTGTGTGTGTATATATATATATATATATA TATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		663		chr8	TogoVar
MATN2_chr8_97864064_98041724	98037386	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0112 a0003c0015t0002g0112	1	318	0.0031	44	c.16 others(55): Show c.1674_*1675insTGTGTGTGTGTGTGTGTGTGTGTATATATATATA TATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		663		chr8	TogoVar
MBD3L5_chr19_7025578_7038011	7035476	A A	AATTATAT others(37): Show AATTATATTATAGTATATTATATATATTATATATAATTATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0006 a0002c0008t0002g0006	1	249	0.0040	44	c.25 others(55): Show c.2582_*2583insATTATATTATAGTATATTATATATATTATATATA ATTATATATT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2466		chr19	TogoVar
MBNL1_chr3_152263929_152470780	152286411	T T	TATTTTAT others(37): Show TATTTTATTTATAATATAAATATTTATATTTTATTTATAATATAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	338	0.0030	44	c.-78 others(65): Show c.-789-12994_-789-12993insATTTTATTTATAATATAAATATTT ATATTTTATTTATAATATAA	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	1/9			chr3	TogoVar
MBNL1_chr3_152263929_152470780	152286437	T T	TATTTTAT others(37): Show TATTTTATTTATAATATAAATATTTATATTTTATTTATAATATAA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	338	0.0030	44	c.-78 others(65): Show c.-789-12968_-789-12967insATTTTATTTATAATATAAATATTT ATATTTTATTTATAATATAA	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	1/9			chr3	TogoVar
MBNL3_chrX_132364320_132494038	132396524	A A	ATATATAT others(37): Show ATATATATTCCTATATATATTCCTATATATTCCTATATATATTCC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02273.hp1 NA19057.hp2 others(2): Show HG01358.hp1 HG02273.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0045 a0001c0001t0005 a0001c0001t0045	a0001c0001t0005g0085 a0001c0001t0005g0087 a0001c0001t0005g0088 others(2): Show a0001c0001t0005g0085 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0094 a0001c0001t0045g0052	5	191	0.0262	44	c.343 others(61): Show c.343-4191_343-4190insGGAATATATATAGGAATATATAGGAATA TATATAGGAATATATA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396558	A A	ATATATAT others(37): Show ATATATATTCCTATATATTCCTATATATATTCCTATATATATTCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0149 a0001c0001t0030g0149	1	191	0.0052	44	c.343 others(61): Show c.343-4225_343-4224insGGAATATATATAGGAATATATATAGGAA TATATAGGAATATATA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT1_chr6_20094684_20217469	20111805	C C	CATATATA others(37): Show CATATATATACATATATATACATATATATATACATATATATACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG01109.hp1 others(20): Show HG00140.hp2 HG00323.hp1 HG01109.hp1 HG01167.hp1 HG01255.hp1 HG01891.hp2 HG02486.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp2 HG03225.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03927.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA19064.hp2 NA19081.hp1 NA19084.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0011 others(1): Show a0001c0001 a0002c0002 a0002c0011 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0038 a0001c0001t0045 a0001c0001t0056 a0001c0001t0063 a0002c0002t0015 a0002c0011t0020 a0004c0004t0074	a0001c0001t0001g0098 a0001c0001t0002g0131 a0001c0001t0004g0022 others(20): Show a0001c0001t0001g0098 a0001c0001t0002g0131 a0001c0001t0004g0022 a0001c0001t0004g0037 a0001c0001t0004g0179 a0001c0001t0004g0262 a0001c0001t0005g0025 a0001c0001t0005g0174 a0001c0001t0006g0012 a0001c0001t0010g0223 a0001c0001t0010g0256 a0001c0001t0010g0276 a0001c0001t0011g0279 a0001c0001t0012g0275 a0001c0001t0014g0141 a0001c0001t0014g0225 a0001c0001t0038g0142 a0001c0001t0045g0185 a0001c0001t0056g0254 a0001c0001t0063g0301 a0002c0002t0015g0313 a0002c0011t0020g0328 a0004c0004t0074g0314	23	336	0.0685	44	c.120 others(63): Show c.1209+1070_1209+1071insATGTATATATATGTATATATATATGT ATATATATGTATATATAT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20111815	C C	CATATATA others(37): Show CATATATATACATATATATATACATATATATACATATATATATAA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	336	0.0030	44	c.120 others(63): Show c.1209+1060_1209+1061insTTATATATATATGTATATATATGTAT ATATATATGTATATATAT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20111870	A A	ATATATAT others(37): Show ATATATATATACATATATATACATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0327 a0002c0002t0020g0327	1	336	0.0030	44	c.120 others(63): Show c.1209+1005_1209+1006insCGTATATATATATATATATATATGTA TATATATGTATATATATA	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12			chr6	TogoVar
MBOAT7_chr19_54168415_54194580	54181853	A A	GGGAGGGA others(37): Show GGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	373	0.0027	44	c.494 others(59): Show c.494-720_494-719insTCCCTCCCTCCTTCCTTCCCTCCTTCCCTC CTTCCTTCCCTCCC	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar
MBP_chr18_76973833_77137783	76975219	T T	TTTTCTTT others(37): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0393 a0001c0002t0029g0393	1	396	0.0025	44	c.52 others(55): Show c.5207_*5208insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3613		chr18	TogoVar
MBP_chr18_76973833_77137783	76975223	T T	TTTTCTTT others(37): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18997.hp2 NA18967.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0046 a0001c0001t0010 a0001c0001t0046	a0001c0001t0010g0175 a0001c0001t0046g0331 a0001c0001t0010g0175 a0001c0001t0046g0331	2	396	0.0051	44	c.52 others(55): Show c.5203_*5204insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3609		chr18	TogoVar
MBP_chr18_76973833_77137783	77081771	C C	CACACACA others(37): Show CACACACACACACACACGTATATATATATGCACACACATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0219 a0001c0003t0024g0219	1	396	0.0025	44	c.52- others(61): Show c.52-15387_52-15386insATATATATGTGTGTGCATATATATATAC GTGTGTGTGTGTGTGT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0014 a0001c0002t0010g0014	1	340	0.0029	44	c.41 others(55): Show c.4153_*4154insATATATATATATATATATATATATATATATATAT TTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(37): Show TTATATATATATATATATTTTTATATATATATATATATTTATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0127 a0001c0001t0127	a0001c0001t0127g0215 a0001c0001t0127g0215	1	340	0.0029	44	c.10 others(55): Show c.1093_*1094insTATATAAATATATATATATATATAAAAATATATA TATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(37): Show TTATATATATATATATTTTTATATATATATATATATATATTTATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0124 a0001c0001t0124	a0001c0001t0124g0252 a0001c0001t0124g0252	1	340	0.0029	44	c.10 others(55): Show c.1093_*1094insTATAAATATATATATATATATATATAAAAATATA TATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179486	A A	ATATATAT others(37): Show ATATATATATATATTTTTATATATATATATATATATATTTATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0230 a0001c0001t0102g0230	1	340	0.0029	44	c.10 others(55): Show c.1089_*1090insAATATAAATATATATATATATATATATAAAAATA TATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1089		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179488	A A	ATATATAT others(37): Show ATATATATATATTTTTATATATATATATATATATATATTTATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp2 HG01361.hp1 HG02738.hp1 HG01257.hp2 HG01361.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0094 a0001c0001t0047 a0001c0001t0094	a0001c0001t0047g0227 a0001c0001t0047g0251 a0001c0001t0094g0242 a0001c0001t0047g0227 a0001c0001t0047g0251 a0001c0001t0094g0242	3	340	0.0088	44	c.10 others(55): Show c.1087_*1088insAATATAAATATATATATATATATATATATAAAAA TATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1087		chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21888810	G G	GTATATAT others(37): Show GTATATATATATATATATATACACACATATATGTGTGTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 NA18941.hp2 NA19002.hp1 HG03540.hp2 NA18941.hp2 NA19002.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0003 a0001c0002 a0004c0003	a0001c0002t0002 a0004c0003t0002 a0001c0002t0002 a0004c0003t0002	a0001c0002t0002g0274 a0001c0002t0002g0275 a0004c0003t0002g0056 a0001c0002t0002g0274 a0001c0002t0002g0275 a0004c0003t0002g0056	3	308	0.0097	44	c.61 others(55): Show c.6155_*6156insTATATATATATATATATATACACACATATATGTG TGTATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3388		chrX	TogoVar
MC1R_chr16_89913862_89925972	89914789	T T	TTGTGTGT others(37): Show TTGTGTGTGTGCCTGTGTGTGGGTGCACATTTGTGTGTGTGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00597.hp2 others(21): Show HG00323.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG01175.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02129.hp1 HG02165.hp1 NA18612.hp1 NA18940.hp2 NA18943.hp2 NA18954.hp1 NA18960.hp1 NA18967.hp1 NA18982.hp1 NA18984.hp2 NA19003.hp1 NA19062.hp1 NA19070.hp2 NA19074.hp2 NA19087.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	24	396	0.0606	44	c.-44 others(55): Show c.-4470_-4469insTGTGTGTGTGCCTGTGTGTGGGTGCACATTTGTG TGTGTGTGCC	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		4072		chr16	TogoVar
MCC_chr5_113017106_113493453	113132427	C C	CATATATA others(37): Show CATATATATATACACACATACATATATATATACACACATACATAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0013 a0003c0006t0002g0013	1	160	0.0063	44	c.885 others(61): Show c.885-9602_885-9601insATATGTATGTGTGTATATATATATGTAT GTGTGTATATATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	5/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113217561	A A	ATACCAAC others(37): Show ATACCAACACATTTAGCAAAAAGTAAAAAACAGATCCCACTCGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19043.hp2 HG02615.hp2 NA19043.hp2	a0001 a0001	a0001c0016 a0001c0017 a0001c0016 a0001c0017	a0001c0016t0006 a0001c0017t0003 a0001c0016t0006 a0001c0017t0003	a0001c0016t0006g0042 a0001c0017t0003g0044 a0001c0016t0006g0042 a0001c0017t0003g0044	2	160	0.0125	44	c.628 others(63): Show c.628-66183_628-66140dupCACGAGTGGGATCTGTTTTTTACTTT TTGCTAAATGTGTTGGTA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113333828	T T	TACATATG others(37): Show TACATATGTACATATGTACATATATGTACATATGTACATATGTAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0036 a0001c0010t0005g0036	1	160	0.0063	44	c.627 others(61): Show c.627+6690_627+6691insGTACATATGTACATATGTACATATATGT ACATATGTACATATGT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113333828	T T	TACATATG others(37): Show TACATATGTATATATGTACATATATGTACATATGTACATATGTAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19030.hp2 NA21309.hp1 HG02818.hp2 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0008 a0001c0010 a0001c0008 a0001c0010	a0001c0008t0031 a0001c0010t0005 a0001c0010t0028 a0001c0008t0031 a0001c0010t0005 a0001c0010t0028	a0001c0008t0031g0034 a0001c0010t0005g0033 a0001c0010t0028g0035 a0001c0008t0031g0034 a0001c0010t0005g0033 a0001c0010t0028g0035	3	160	0.0188	44	c.627 others(61): Show c.627+6690_627+6691insGTACATATGTACATATGTACATATATGT ACATATATACATATGT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113333838	T T	TATATGTA others(37): Show TATATGTACATATATGTACATATGTACATATATGTATATATATAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0017 a0003c0006t0017	a0003c0006t0017g0023 a0003c0006t0017g0023	1	160	0.0063	44	c.627 others(61): Show c.627+6680_627+6681insGTATATATATACATATATGTACATATGT ACATATATGTACATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(37): Show GCGCGCGCGCGCGCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0021 a0021	a0021c0025 a0021c0025	a0021c0025t0003 a0021c0025t0003	a0021c0025t0003g0143 a0021c0025t0003g0143	1	176	0.0057	44	c.130 others(63): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGCGCGCGCGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(37): Show GCGCGCGCGCGCGCGCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0022 a0003c0003t0022	a0003c0003t0022g0157 a0003c0003t0022g0157	1	176	0.0057	44	c.130 others(63): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGCGCGCGCGCGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113057636	T T	TTTGGGTG others(37): Show TTTGGGTGCTGAGTGTTTAGGTGCTGTGTGTTTGGGTGCTGAGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0103 a0001c0004t0001g0103	1	116	0.0086	44	c.370 others(61): Show c.370-2939_370-2896dupAGGTGCTGTGTGTTTGGGTGCTGAGTGT TGGGTGCTGAGTGTTT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCM9_chr6_118808455_118940159	118843644	A A	ATATATAT others(37): Show ATATATATATATATATATACACGTATATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18968.hp1 NA18989.hp1 others(1): Show HG02615.hp2 NA18968.hp1 NA18989.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0002g0081 others(1): Show a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0002g0081 a0001c0001t0002g0095	4	348	0.0115	44	c.132 others(65): Show c.1325+12726_1325+12727insCACGTATATATATATATATATACG TGTATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843644	A A	ATATATAT others(37): Show ATATATATATATATATATATACACGTATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02630.hp2 others(6): Show HG02257.hp1 HG02559.hp2 HG02630.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0297 others(6): Show a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0297 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334	9	348	0.0259	44	c.132 others(65): Show c.1325+12726_1325+12727insCACGTATATATATATATATACGTG TATATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843644	A A	ATATATAT others(37): Show ATATATATATATATATATATACACGTATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp1 HG03130.hp2 HG02809.hp2 HG02886.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222	3	348	0.0086	44	c.132 others(65): Show c.1325+12726_1325+12727insCACATATATATATATATATACGTG TATATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843654	A A	ATATATAC others(37): Show ATATATACACGTATATATATATATATACGTGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0020 a0003c0004t0002g0020	1	348	0.0029	44	c.132 others(65): Show c.1325+12716_1325+12717insCATATATATATATACACGTATATA TATATATATACGTGTATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18966.hp1 NA19074.hp2 NA18952.hp2 NA18966.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0271 a0001c0001t0006g0310 a0001c0001t0007g0108 a0001c0001t0006g0271 a0001c0001t0006g0310 a0001c0001t0007g0108	3	350	0.0086	44	c.42 others(55): Show c.4246_*4247insTATATATATATATATATATATATACACACACACA CACACACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 NA18961.hp2 HG04115.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0302 a0001c0001t0007g0051 a0001c0001t0006g0302 a0001c0001t0007g0051	2	350	0.0057	44	c.42 others(55): Show c.4246_*4247insTATATATATATATATATATATACACACACACACA CACACACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	350	0.0029	44	c.42 others(55): Show c.4246_*4247insTATATATATATATATATACACACACACACACACA CACACACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84987489	C C	CATATGTA others(37): Show CATATGTATATACCTATATACATATATAGGTATATACATATGTAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02559.hp2 others(18): Show HG01884.hp2 HG02280.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 others(3): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0003c0003t0005 a0003c0003t0013	a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0005g0024 others(17): Show a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0005g0024 a0001c0001t0005g0027 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0038 a0001c0001t0013g0037 a0001c0001t0014g0015 a0001c0001t0014g0019 a0001c0001t0014g0020 a0001c0001t0019g0036 a0003c0003t0005g0002 a0003c0003t0005g0028 a0003c0003t0005g0029 a0003c0003t0005g0030 a0003c0003t0005g0031 a0003c0003t0013g0025	21	350	0.0600	44	c.77+ others(59): Show c.77+9306_77+9307insATACATATGTATATACCTATATATGTATAT AGGTATATACATAT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MCTP2_chr15_94226561_94488952	94242950	C C	CACATATA others(37): Show CACATATACACGTGTATCTACATATACACGTGTATATGTGTATCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0175	1	276	0.0036	44	c.-66 others(63): Show c.-66+11302_-66+11303insCTACATATACACGTGTATATGTGTAT CTACATATACACGTGTAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94243502	T T	TGTATGCG others(37): Show TGTATGCGTATATGCGTATGTACATACATACGTATGCGTACATGC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0186	1	276	0.0036	44	c.-66 others(63): Show c.-66+11861_-66+11862insTACATACGTATGCGTACATGCGTATG CGTATATGCGTATGTACA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94243922	T T	TACACACA others(37): Show TACACACACACATGTATACACATACATATGTGTATATATTTATGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	276	0.0036	44	c.-66 others(63): Show c.-66+12263_-66+12264insCACACATGTATACACATACATATGTG TATATATTTATGCACACA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MDGA2_chr14_46835092_47680605	47013772	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01891.hp2 HG02965.hp1 others(1): Show HG01192.hp2 HG01891.hp2 HG02965.hp1 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0013 a0001c0001t0001 a0002c0002t0013	a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0094 others(1): Show a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0094 a0002c0002t0013g0084	4	120	0.0333	44	c.181 others(65): Show c.1819+21238_1819+21239insTATATATATATATATATATATATA TATATATATATATATATATA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47013772	G G	GTGTATAT others(37): Show GTGTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	120	0.0083	44	c.181 others(65): Show c.1819+21238_1819+21239insTATATATATATATATATATATATA TATATATATATATATATACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47286824	T T	TATATATA others(37): Show TATATATACACATATATATATGTATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	120	0.0083	44	c.420 others(63): Show c.420+14586_420+14587insGTATATATATATATATATATATACAT ATATATATGTGTATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	2/16			chr14	TogoVar

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Search Results (Total: 4475 hits)