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
KLHL23_chr2_169728832_169756878	169738866	T T	TCCCCCTC others(36): Show TCCCCCTCCTTCCCCCCTCCCCCTCCTTCCCCCCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0216 a0001c0002t0008g0216	1	400	0.0025	43	c.121 others(62): Show c.1214-2518_1214-2517insCCCCTCCTTCCCCCCTCCCCCTCCTT CCCCCCTCCCCCTCCCC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL36_chr16_84643511_84672686	84644147	G G	GAAAGAAA others(36): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0015 a0001c0002t0009g0015	1	448	0.0022	43	c.-45 others(54): Show c.-4519_-4518insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAA	KLHL36	ENSG00000135686.13	transcript	ENST00000564996.6	protein_coding		4363		chr16	TogoVar
KNDC1_chr10_133155219_133231412	133196395	A A	AGTGATCA others(36): Show AGTGATCAGGAGGACCTCCTGGGGAGGAGCCGAGCTGGGTGTGG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18963.hp2 NA19009.hp2 NA18960.hp2 NA18963.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0092 a0002c0002t0002g0213 a0002c0002t0002g0255 a0002c0002t0002g0092 a0002c0002t0002g0213 a0002c0002t0002g0255	3	332	0.0090	43	c.173 others(60): Show c.1734+606_1735-589dupAGCTGGGTGTGGGTGATCAGGAGGACCT CCTGGGGAGGAGCCG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	10/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KRBA2_chr17_8353822_8381704	8374937	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0215 a0001c0002t0002g0215	1	388	0.0026	43	c.-21 others(58): Show c.-21+962_-21+963insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	KRBA2	ENSG00000184619.8	transcript	ENST00000396267.3	protein_coding	1/1			chr17	TogoVar
KRBOX5_chr16_31708244_31766565	31709644	G G	GTAGCCAG others(36): Show GTAGCCAGTGATGAGAACTTCCTTGTGAATCCTTCCAGAAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	374	0.0027	43	c.-37 others(54): Show c.-3789_-3788insTAGCCAGTGATGAGAACTTCCTTGTGAATCCTTC CAGAAATAC	KRBOX5	ENSG00000197302.11	transcript	ENST00000316491.14	protein_coding		3599		chr16	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(36): Show GAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	413	0.0024	43	c.49 others(54): Show c.4943_*4944insTTTCTTCTTTCTTTCTTTCTTTCCTTTCTTTCTT TCTTTCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41051215	A A	AAAATATA others(36): Show AAAATATATATTATATATAGTAAAATATATATATTATATATAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0000 a0004c0005t0004g0000	1	411	0.0024	43	c.36 others(54): Show c.3624_*3625insACTATATATAATATATATATTTTACTATATATAA TATATATTT	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding		3282		chr17	TogoVar
KRTAP2-3_chr17_41054240_41065114	41065043	C C	CAAAATCT others(36): Show CAAAATCTTGCTTATCTGTGTACGCTAATAAACATGCACTAACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	441	0.0023	43	c.-49 others(54): Show c.-4994_-4993insCGTTAGTGCATGTTTATTAGCGTACACAGATAAG CAAGATTTT	KRTAP2-3	ENSG00000212724.3	transcript	ENST00000391418.3	protein_coding		4930		chr17	TogoVar
KSR2_chr12_117448012_117973990	117848834	A A	AACAACAG others(36): Show AACAACAGTGATGGTGGTGGGTGGTGATGGTGGTAGTGGTGGTG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0183 a0001c0002t0009g0183	1	196	0.0051	43	c.472 others(60): Show c.472+6593_472+6594insCACCACCACTACCACCATCACCACCCAC CACCATCACTGTTGT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19			chr12	TogoVar
LACC1_chr13_43874904_43898932	43896575	T T	TTCTTTTA others(36): Show TTCTTTTAGATTTTGCTTGGTTTCTTTGGTTTTTTTTGTATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	456	0.0022	43	c.51 others(54): Show c.5128_*5129insTCTTTTAGATTTTGCTTGGTTTCTTTGGTTTTTT TTGTATGTG	LACC1	ENSG00000179630.11	transcript	ENST00000325686.7	protein_coding		2644		chr13	TogoVar
LAMA5_chr20_62304065_62372312	62331179	A A	AGGGGGTG others(36): Show AGGGGGTGCAGGCGGTACGATGGGGGGGTGCAGGCGGTACAATG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0021 a0021	a0021c0048 a0021c0077 a0021c0048 a0021c0077	a0021c0048t0001 a0021c0077t0001 a0021c0048t0001 a0021c0077t0001	a0021c0048t0001g0058 a0021c0077t0001g0018 a0021c0048t0001g0058 a0021c0077t0001g0018	2	186	0.0108	43	c.355 others(58): Show c.3553-51_3553-50insCATTGTACCGCCTGCACCCCCCCATCGTAC CGCCTGCACCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	28/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62331179	A A	AGGGGGTG others(36): Show AGGGGGTGCAGGCGGTACGATGGGGGGGTGCAGGCGGTACGATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00733.hp1 HG00741.hp2 others(26): Show HG00423.hp1 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01243.hp1 HG02040.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG03017.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG04115.hp2 NA18522.hp1 NA18970.hp2 NA19012.hp1 NA19240.hp2 NA20129.hp2	a0000 a0007 a0008 others(16): Show a0000 a0007 a0008 a0009 a0022 a0023 a0029 a0062 a0063 a0064 a0065 a0066 a0067 a0069 a0070 a0071 a0072 a0073 a0091	a0000c0034 a0000c0050 a0000c0075 others(21): Show a0000c0034 a0000c0050 a0000c0075 a0007c0014 a0007c0043 a0008c0009 a0009c0006 a0022c0035 a0022c0074 a0023c0041 a0023c0054 a0029c0134 a0062c0037 a0063c0038 a0064c0040 a0065c0073 a0066c0033 a0067c0076 a0069c0078 a0070c0079 a0071c0080 a0072c0042 a0073c0039 a0091c0029	a0000c0034t0001 a0000c0050t0001 a0000c0075t0001 others(21): Show a0000c0034t0001 a0000c0050t0001 a0000c0075t0001 a0007c0014t0001 a0007c0043t0001 a0008c0009t0001 a0009c0006t0003 a0022c0035t0001 a0022c0074t0001 a0023c0041t0001 a0023c0054t0001 a0029c0134t0001 a0062c0037t0001 a0063c0038t0001 a0064c0040t0001 a0065c0073t0001 a0066c0033t0003 a0067c0076t0001 a0069c0078t0001 a0070c0079t0001 a0071c0080t0001 a0072c0042t0001 a0073c0039t0001 a0091c0029t0001	a0000c0034t0001g0175 a0000c0050t0001g0060 a0000c0075t0001g0120 others(26): Show a0000c0034t0001g0175 a0000c0050t0001g0060 a0000c0075t0001g0120 a0007c0014t0001g0170 a0007c0014t0001g0176 a0007c0043t0001g0173 a0008c0009t0001g0114 a0008c0009t0001g0135 a0008c0009t0001g0136 a0009c0006t0003g0183 a0009c0006t0003g0184 a0009c0006t0003g0185 a0022c0035t0001g0174 a0022c0074t0001g0134 a0023c0041t0001g0020 a0023c0054t0001g0059 a0029c0134t0001g0056 a0062c0037t0001g0172 a0063c0038t0001g0171 a0064c0040t0001g0023 a0065c0073t0001g0016 a0066c0033t0003g0182 a0067c0076t0001g0160 a0069c0078t0001g0055 a0070c0079t0001g0053 a0071c0080t0001g0054 a0072c0042t0001g0021 a0073c0039t0001g0022 a0091c0029t0001g0180	29	186	0.1559	43	c.355 others(58): Show c.3553-93_3553-51dupCATCGTACCGCCTGCACCCCCCCATCGTAC CGCCTGCACCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	28/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62331201	G G	GGGGGGTG others(36): Show GGGGGGTGCAGGCGGTACGATGGGGGGTGCAGGCGGTACGATGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0074 a0074	a0074c0049 a0074c0049	a0074c0049t0001 a0074c0049t0001	a0074c0049t0001g0061 a0074c0049t0001g0061	1	186	0.0054	43	c.355 others(58): Show c.3553-73_3553-72insTCATCGTACCGCCTGCACCCCCCATCGTAC CGCCTGCACCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	28/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62334753	C C	CAGGGCTC others(36): Show CAGGGCTCAGGGCGAGGGCGAGGGCGAGGGCGAGGGCGAGGGCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01515.hp1 HG00642.hp1 HG01515.hp1	a0051 a0052 a0051 a0052	a0051c0117 a0052c0118 a0051c0117 a0052c0118	a0051c0117t0001 a0052c0118t0001 a0051c0117t0001 a0052c0118t0001	a0051c0117t0001g0072 a0052c0118t0001g0074 a0051c0117t0001g0072 a0052c0118t0001g0074	2	186	0.0108	43	c.248 others(60): Show c.2483-133_2483-132insCGCCCTCGCCCTCGCCCTCGCCCTCGCC CTCGCCCTGAGCCCT	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	20/79			chr20	TogoVar
LAMC1_chr1_183018420_183150592	183077776	G G	GTGTGTGT others(36): Show GTGTGTGTGTGTATATATATATATATATATACTGTATATATATA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0002 a0006c0015t0002	a0006c0015t0002g0013 a0006c0015t0002g0013	1	308	0.0033	43	c.419 others(62): Show c.419-25551_419-25550insGTGTGTGTGTATATATATATATATAT ATACTGTATATATATAT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAP3_chr4_17572198_17612970	17580185	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATGTATGTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0196 a0001c0003t0003g0196	1	300	0.0033	43	c.218 others(58): Show c.218+246_218+247insATATATATATATATATATATATATATATAT ATATATGTATGTA	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12			chr4	TogoVar
LAPTM4A_chr2_20027650_20056628	20035714	A A	AATTTTCC others(36): Show AATTTTCCCCTTGTAGCATTAAACTGGCCCAGTTTATCTGTAGT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	424	0.0024	43	c.433 others(58): Show c.433-653_433-652insACTACAGATAAACTGGGCCAGTTTAATGCT ACAAGGGGAAAAT	LAPTM4A	ENSG00000068697.7	transcript	ENST00000175091.5	protein_coding	4/6			chr2	TogoVar
LARGE1_chr22_33267509_33925476	33675292	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	110	0.0091	43	c.107 others(62): Show c.107-24625_107-24624insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	2/14			chr22	TogoVar
LARP4_chr12_50395885_50485004	50446354	T T	TCCCCCCC others(36): Show TCCCCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp1 HG02258.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0021 a0001c0001t0020 a0001c0001t0021	a0001c0001t0020g0300 a0001c0001t0021g0301 a0001c0001t0020g0300 a0001c0001t0021g0301	2	318	0.0063	43	c.804 others(60): Show c.804+4712_804+4713insCCCCCCCTCCCCCTCCCCCTTCCCCTCC CCCTCCCCCTCCCCC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446358	T T	TCTCTCTC others(36): Show TCTCTCTCTCTCTCCCCCCCCCTTCCCCTCCCCCTCCCCCTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0170 a0001c0001t0004g0170	1	318	0.0031	43	c.804 others(60): Show c.804+4728_804+4729insCCCCCCCCTTCCCCTCCCCCTCCCCCTC TCCTCTCTCTCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446360	T T	TCTCTCTC others(36): Show TCTCTCTCTCTCCCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0314 a0001c0001t0011g0314	1	318	0.0031	43	c.804 others(60): Show c.804+4728_804+4729insCCCCCCCCCTTCCCCTCCCCCTCCCCCT CTCCCTCTCTCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446362	T T	TCTCTCTC others(36): Show TCTCTCTCTCTCCCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	318	0.0031	43	c.804 others(60): Show c.804+4730_804+4731insCCCCCCCCCTTCCCCTCCCCCTCCCCCT CTCCCTCTCTCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446368	T T	TCCCCCCC others(36): Show TCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0238 a0001c0001t0014g0238	1	318	0.0031	43	c.804 others(60): Show c.804+4726_804+4727insCCCCCCCTCCCCCTCCCCCTCCCCCTTC CCCTCCCCCTCTCCC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446370	T T	TCCCCCCC others(36): Show TCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0194 a0001c0001t0013g0194	1	318	0.0031	43	c.804 others(60): Show c.804+4728_804+4729insCCCCCCCTCCCCCTCCCCCTCCCCCTTC CCCTCCCCCTCTCCC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LBP_chr20_38341482_38382013	38379198	C C	CGCCAGGC others(36): Show CGCCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0259 a0002c0007t0001g0259	1	394	0.0025	43	c.25 others(54): Show c.2529_*2530insGCCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGG GGCCCCCCG	LBP	ENSG00000129988.6	transcript	ENST00000217407.3	protein_coding		2186		chr20	TogoVar
LEMD2_chr6_33766213_33794130	33793295	T T	TCCCCTCC others(36): Show TCCCCTCCGTCCCGCCCCAGCCCACCTGACTGCACCCTTCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0005 a0002c0002t0006g0005	1	400	0.0025	43	c.-41 others(54): Show c.-4180_-4179insCCGGGAAGGGTGCAGTCAGGTGGGCTGGGGCGGG ACGGAGGGG	LEMD2	ENSG00000161904.13	transcript	ENST00000293760.10	protein_coding		4166		chr6	TogoVar
LEPROT_chr1_65415668_65441007	65435862	T T	TGCAACAC others(36): Show TGCAACACCCCACTGACACCCCACAATTAGCTCAACAGTATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0001 a0001c0001t0044g0001	1	402	0.0025	43	c.39 others(54): Show c.3943_*3944insGCAACACCCCACTGACACCCCACAATTAGCTCAA CAGTATACA	LEPROT	ENSG00000213625.9	transcript	ENST00000371065.9	protein_coding	4/4	3944		chr1	TogoVar
LEP_chr7_128236278_128262629	128258733	C C	CTTTCTTT others(36): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01106.hp2 others(3): Show HG00140.hp1 HG00741.hp2 HG01106.hp2 HG01257.hp1 HG01433.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0002 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0002 a0001c0001t0006g0008	6	395	0.0152	43	c.39 others(54): Show c.3970_*3971insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC TTTCTTTCT	LEP	ENSG00000174697.5	transcript	ENST00000308868.5	protein_coding		1105		chr7	TogoVar
LGALS16_chr19_39650913_39665647	39653214	C C	CCGACAGC others(36): Show CCGACAGCCAATATCATACTGAATTGGCAAATATTTATGACAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	442	0.0023	43	c.-27 others(54): Show c.-2748_-2747insCGACAGCCAATATCATACTGAATTGGCAAATATT TATGACAAA	LGALS16	ENSG00000249861.4	transcript	ENST00000392051.4	protein_coding		2698		chr19	TogoVar
LHFPL4_chr3_9493361_9558822	9557493	G G	GAAGAGGA others(36): Show GAAGAGGAGAAGAGAGAAGAGAAAGAAGAAAGAAAGAAAGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0102 a0001c0001t0008g0102	1	360	0.0028	43	c.-39 others(54): Show c.-3978_-3977insTCTTCTTTCTTTCTTTCTTCTTTCTCTTCTCTCT TCTCCTCTT	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding		3672		chr3	TogoVar
LHPP_chr10_124456823_124619141	124520313	C C	CTCCAACA others(36): Show CTCCAACAGTGTGTGTGTTATCCTGTGTATCCAACACCCTCCAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0030 a0002c0002t0003g0030	1	260	0.0039	43	c.716 others(60): Show c.716+3042_716+3043insTCCAACAGTGTGTGTGTTATCCTGTGTA TCCAACACCCTCCAA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6			chr10	TogoVar
LHX9_chr1_197912372_197940478	197929474	G G	GTATATTG others(36): Show GTATATTGTATCTCCTAACTATTGCACTGTATTTTGCTAAATGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0060 a0001c0001t0049g0060	1	420	0.0024	43	c.21 others(52): Show c.216_*217insATATTGTATCTCCTAACTATTGCACTGTATTTTGCT AAATGTT	LHX9	ENSG00000143355.16	transcript	ENST00000367387.6	protein_coding	5/5	217	INFO_REALIGN_3_PRIME	chr1	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0278 a0001c0001t0042g0278	1	358	0.0028	43	c.96 others(54): Show c.9604_*9605insTATATATATATATATATATATATATATATATTTT TTTTTTTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding		323		chr3	TogoVar
LIMS1_chr2_108529470_108692246	108569764	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03239.hp2 HG03195.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0008 a0001c0002t0004 a0001c0002t0008	a0001c0002t0004g0227 a0001c0002t0008g0222 a0001c0002t0004g0227 a0001c0002t0008g0222	2	246	0.0081	43	c.32+ others(60): Show c.32+35189_32+35190insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	LIMS1	ENSG00000169756.17	transcript	ENST00000544547.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIN9_chr1_226226157_226314164	226250796	A A	AAATTAGA others(36): Show AAATTAGACAAGCAAATGAAGAAAAAAAAAGAGAAATTCTTACC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0154 a0001c0002t0002g0154	1	364	0.0028	43	c.111 others(55): Show c.1119_1119+42dupGGTAAGAATTTCTCTTTTTTTTTCTTCATTTGC TTGTCTAATT	LIN9	ENSG00000183814.16	transcript	ENST00000681046.1	protein_coding	11/14			chr1	TogoVar
LINGO2_chr9_27932617_29218601	28848229	G G	GTATATAT others(36): Show GTATATATACACACTATATATACGCATATATAGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02895.hp1 others(2): Show HG02572.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0022 others(2): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027	a0001c0001t0002g0028 a0001c0001t0011g0002 a0001c0001t0022g0031 others(2): Show a0001c0001t0002g0028 a0001c0001t0011g0002 a0001c0001t0022g0031 a0001c0001t0024g0027 a0001c0001t0027g0030	5	62	0.0807	43	c.-39 others(64): Show c.-395+99546_-395+99588dupGTATATATACACTATATATGCGTA TATATAGTGTGTATATATA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LIPT2_chr11_74485519_74498724	74491798	A A	AATCGAGA others(36): Show AATCGAGAAATGACAATCTATGACATCAACAATCGAGAAATAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0020 a0001c0001t0016g0020	1	420	0.0024	43	c.33 others(52): Show c.336_*337insGTTATTTCTCGATTGTTGATGTCATAGATTGTCATT TCTCGAT	LIPT2	ENSG00000175536.7	transcript	ENST00000310109.5	protein_coding	2/2	336		chr11	TogoVar
LMF1_chr16_848634_975984	950181	G G	GCCAACAA others(36): Show GCCAACAACAGTCAGCCAACAACAGAGTCAGGCCAACGACAGTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0124 a0001c0003t0001g0124	1	294	0.0034	43	c.503 others(60): Show c.503+4175_503+4176insGACTGTCGTTGGCCTGACTCTGTTGTTG GCTGACTGTTGTTGG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMO7_chr13_75631330_75864866	75632862	G G	GTTTTTTT others(36): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0165 a0007c0009t0001g0165	1	272	0.0037	43	c.-37 others(54): Show c.-3796_-3795insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding		3467		chr13	TogoVar
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0334 a0001c0002t0042g0334	1	428	0.0023	43	c.165 others(62): Show c.1657-1733_1657-1732insATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTTT	LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2			chr3	TogoVar
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0299 a0001c0001t0030g0299	1	428	0.0023	43	c.165 others(62): Show c.1657-1733_1657-1732insATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTT	LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2			chr3	TogoVar
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0126 a0001c0001t0015g0126	1	428	0.0023	43	c.165 others(62): Show c.1657-1733_1657-1732insATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTT	LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2			chr3	TogoVar
LMTK2_chr7_98101862_98214638	98140148	T T	TGTCTGTC others(36): Show TGTCTGTCTGTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02572.hp1 HG02976.hp1 HG02129.hp1 HG02572.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0284 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0284	3	390	0.0077	43	c.232 others(60): Show c.232-1249_232-1248insGTCTGTCTGTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTC	LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13			chr7	TogoVar
LMTK2_chr7_98101862_98214638	98140148	T T	TGTCTGTC others(36): Show TGTCTGTCTGTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0017 a0001c0007t0017	a0001c0007t0017g0287 a0001c0007t0017g0287	1	390	0.0026	43	c.232 others(60): Show c.232-1249_232-1248insGTCTGTCTGTCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTC	LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13			chr7	TogoVar
LOC114841035_chr11_64236095_64249132	64237126	G G	GAGAGAGA others(36): Show GAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	330	0.0030	43	c.-41 others(54): Show c.-4154_-4153insAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAG AGACAGACA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3968		chr11	TogoVar
LOC729966_chr19_18245034_18260362	18251687	G G	GCCCCCGC others(36): Show GCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0083 a0003c0003t0001g0083	1	454	0.0022	43	c.496 others(58): Show c.496+376_496+377insGCGGGGGCGGGGGCGGGGGCGGGGGCGGGG GCGGGGGCGGGGG	LOC729966	ENSG00000284797.2	transcript	ENST00000643046.2	protein_coding	2/3			chr19	TogoVar
LPP_chr3_188149157_188895671	188441609	C C	CTTTTCTT others(36): Show CTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0027 a0002c0008t0027	a0002c0008t0027g0042 a0002c0008t0027g0042	1	76	0.0132	43	c.193 others(62): Show c.193+35300_193+35301insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188602164	A A	AATATATA others(36): Show AATATATATATATAATATATATATAATATATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03130.hp1 HG02970.hp1 HG03130.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0016 a0002c0003 a0005c0016	a0002c0003t0006 a0005c0016t0043 a0002c0003t0006 a0005c0016t0043	a0002c0003t0006g0034 a0005c0016t0043g0058 a0002c0003t0006g0034 a0005c0016t0043g0058	2	76	0.0263	43	c.430 others(60): Show c.430-6985_430-6984insAATATATATATAATATATATATAATATA TATATATATATATAT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH1_chr13_46548170_46749898	46619113	T T	TTCCTTCC others(36): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18522.hp1 HG02965.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0006 a0001c0008 a0002c0006	a0001c0008t0006 a0002c0006t0002 a0001c0008t0006 a0002c0006t0002	a0001c0008t0006g0205 a0002c0006t0002g0091 a0001c0008t0006g0205 a0002c0006t0002g0091	2	274	0.0073	43	c.308 others(62): Show c.308-31087_308-31086insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCT	LRCH1	ENSG00000136141.15	transcript	ENST00000389797.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
LRCH3_chr3_197786254_197893436	197792577	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	292	0.0034	43	c.262 others(60): Show c.262+1037_262+1038insATATATATATATATATATATATATATAT ATATATATATATATA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	1/20			chr3	TogoVar

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Search Results (Total: 2299 hits)