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
KIAA1671_chr22_24947716_25202448	25093824	T T	TTCTCCTC others(26): Show TTCTCCTCTCTCTCTCTCTCTCTGTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0001 a0004c0023t0001	a0004c0023t0001g0073 a0004c0023t0001g0073	1	254	0.0039	33	c.453 others(54): Show c.4530+44464_4530+44465insCTCTCTCTCTCTCTCTCTGTCTCT CTCTCTCTC	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
KIAA2012_chr2_202068255_202210188	202133130	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0235 a0002c0001t0002g0235	1	312	0.0032	33	c.183 others(52): Show c.1832-5301_1832-5300insATATATATATATATATATATATTTTT TTTTTTT	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
KIAA2012_chr2_202068255_202210188	202133130	A A	ATATATAT others(26): Show ATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0160 a0001c0004t0001g0160	1	312	0.0032	33	c.183 others(52): Show c.1832-5301_1832-5300insATATATATATATATTTTTTTTTTTTT TTTTTTT	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
KIAA2012_chr2_202068255_202210188	202133130	A A	ATATATAT others(26): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0156 a0001c0004t0001g0161 a0001c0004t0001g0156 a0001c0004t0001g0161	2	312	0.0064	33	c.183 others(52): Show c.1832-5301_1832-5300insATATATATATATTTTTTTTTTTTTTT TTTTTTT	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
KIAA2026_chr9_5914022_6013482	5999730	T T	TTAAAAAA others(26): Show TTAAAAAAAGATAAAAAAAATAAAAAAAAAATAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0194 a0001c0002t0003g0194	1	374	0.0027	33	c.593 others(50): Show c.593+7464_593+7465insTTATTTTTTTTTTATTTTTTTTATCTTT TTTTA	KIAA2026	ENSG00000183354.12	transcript	ENST00000399933.8	protein_coding	1/7			chr9	TogoVar
KIF13A_chr6_17758693_17992635	17821588	T T	TGTGTGTG others(26): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0170 a0001c0002t0002g0170	1	282	0.0036	33	c.178 others(52): Show c.1786+4179_1786+4180insCACACACACACACACACACACACACA CACACAC	KIF13A	ENSG00000137177.20	transcript	ENST00000259711.11	protein_coding	16/38			chr6	TogoVar
KIF13B_chr8_29062278_29268070	29098170	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02056.hp1 HG02258.hp1 others(1): Show HG01070.hp2 HG02056.hp1 HG02258.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0036 a0001c0001t0038 a0001c0001t0003 a0001c0001t0036 a0001c0001t0038	a0001c0001t0003g0178 a0001c0001t0003g0253 a0001c0001t0036g0007 others(1): Show a0001c0001t0003g0178 a0001c0001t0003g0253 a0001c0001t0036g0007 a0001c0001t0038g0023	4	288	0.0139	33	c.432 others(50): Show c.4324+962_4324+963insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding	36/39			chr8	TogoVar
KIF13B_chr8_29062278_29268070	29228472	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0010 a0001c0021t0010	a0001c0021t0010g0117 a0001c0021t0010g0117	1	288	0.0035	33	c.149 others(52): Show c.149+16873_149+16874insATATATATATATATATATATTTTTTT TTTTTTT	KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding	2/39			chr8	TogoVar
KIF14_chr1_200546500_200625751	200548812	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0018 a0001c0001t0012g0018	1	390	0.0026	33	c.45 others(44): Show c.4575_*4576insAAAAAAAAAAATATATATATATATATATATATA	KIF14	ENSG00000118193.12	transcript	ENST00000367350.5	protein_coding		2687		chr1	TogoVar
KIF18B_chr17_44919711_44952773	44951927	C C	CTCTCTCT others(26): Show CTCTCTCTCTCTATTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	406	0.0025	33	c.-43 others(44): Show c.-4315_-4314insTATATATATATATATATATAATAGAGAGAGAGA	KIF18B	ENSG00000186185.14	transcript	ENST00000593135.6	protein_coding		4155		chr17	TogoVar
KIF19_chr17_74321226_74360820	74340553	G G	GCAGCGCG others(26): Show GCAGCGCGCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0279 a0002c0001t0001g0279	1	412	0.0024	33	c.121 others(50): Show c.121-1322_121-1321insAGCGCGCACACACACACACACACACACA CACAC	KIF19	ENSG00000196169.15	transcript	ENST00000389916.5	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
KIF1A_chr2_240708767_240825219	240786745	C C	CCCCTGAG others(26): Show CCCCTGAGTGAGGGGTGGGGGCCACCATCAGGAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02895.hp1 HG02897.hp2 others(1): Show HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0009 a0001c0008t0001 a0001c0008t0009	a0001c0008t0001g0001 a0001c0008t0009g0012 a0001c0008t0009g0013 a0001c0008t0001g0001 a0001c0008t0009g0012 a0001c0008t0009g0013	4	330	0.0121	33	c.430 others(48): Show c.430-233_430-232insTTCCTGATGGTGGCCCCCACCCCTCACTCA GGG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786745	C C	CCCCTGAG others(26): Show CCCCTGAGTGAGGGGTGGGGGCTGCCATCAGGAA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0011 a0002c0026t0011	a0002c0026t0011g0280 a0002c0026t0011g0280	1	330	0.0030	33	c.430 others(48): Show c.430-233_430-232insTTCCTGATGGCAGCCCCCACCCCTCACTCA GGG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786790	G G	GGGGGTGG others(26): Show GGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG02622.hp1 others(8): Show HG01243.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02886.hp2 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03540.hp2 NA18906.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0032 a0003c0009 others(1): Show a0001c0001 a0001c0032 a0003c0009 a0004c0016	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0033 a0001c0032t0013 a0003c0009t0006 a0003c0009t0007 a0004c0016t0004	a0001c0001t0004g0065 a0001c0001t0005g0066 a0001c0001t0007g0063 others(8): Show a0001c0001t0004g0065 a0001c0001t0005g0066 a0001c0001t0007g0063 a0001c0001t0033g0167 a0001c0032t0013g0145 a0003c0009t0006g0037 a0003c0009t0006g0126 a0003c0009t0006g0154 a0003c0009t0007g0127 a0004c0016t0004g0007 a0004c0016t0004g0014	11	330	0.0333	33	c.430 others(48): Show c.430-278_430-277insTCACTCAGGGGCCCAGCAGGCAGCCCCCAC CCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF25_chr6_167992671_168050091	168001540	T T	TCTGAGGC others(26): Show TCTGAGGCGTGGCCTCGGGCAGGTGAGAAGACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02723.hp1 others(2): Show HG01884.hp1 HG02280.hp1 HG02723.hp1 HG03130.hp1 NA18522.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0048 a0001c0001t0049 a0005c0007t0020 a0001c0001t0048 a0001c0001t0049 a0005c0007t0020	a0001c0001t0048g0026 a0001c0001t0049g0028 a0005c0007t0020g0024 others(2): Show a0001c0001t0048g0026 a0001c0001t0049g0028 a0005c0007t0020g0024 a0005c0007t0020g0025 a0005c0007t0020g0027	5	375	0.0133	33	c.-36 others(50): Show c.-369-962_-369-930dupGTGGCCTCGGGCAGGTGAGAAGACACCT GAGGC	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168002104	A A	AAAGACAC others(26): Show AAAGACACCTGAGGCGTGGCCTCGGGCAGGTGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0136 a0001c0001t0014g0136	1	375	0.0027	33	c.-36 others(50): Show c.-369-376_-369-344dupTGAGAAGACACCTGAGGCGTGGCCTCGG GCAGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168002238	A A	AAAGACAC others(26): Show AAAGACACCTGAGGCGTGGCCTCGGGCAGGTGAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0033 a0007c0009t0033	a0007c0009t0033g0020 a0007c0009t0033g0020	1	375	0.0027	33	c.-36 others(50): Show c.-369-291_-369-290insGTGGCCTCGGGCAGGTGAGAAGACACCT GAGGC	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF26B_chr1_245149985_245714432	245184047	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0092 a0002c0003t0004g0092	1	160	0.0063	33	c.465 others(52): Show c.465+27366_465+27367insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245184050	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02970.hp2 HG03516.hp2 HG01496.hp2 HG02970.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0009 a0001c0052 a0001c0004 a0001c0009 a0001c0052	a0001c0004t0001 a0001c0009t0051 a0001c0052t0046 a0001c0004t0001 a0001c0009t0051 a0001c0052t0046	a0001c0004t0001g0093 a0001c0009t0051g0090 a0001c0052t0046g0091 a0001c0004t0001g0093 a0001c0009t0051g0090 a0001c0052t0046g0091	3	160	0.0188	33	c.465 others(52): Show c.465+27386_465+27387insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF3B_chr20_32272651_32340011	32299403	A A	ATATATAT others(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0012 a0001c0001t0021g0012	1	242	0.0041	33	c.-65 others(52): Show c.-65-10309_-65-10308insATATATATATATATATATTTTTTTTT TTTTTTT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF3B_chr20_32272651_32340011	32299403	A A	ATATATAT others(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0011 a0001c0001t0024g0011	1	242	0.0041	33	c.-65 others(52): Show c.-65-10309_-65-10308insATATATATATATATATTTTTTTTTTT TTTTTTT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF4A_chrX_70285104_70425886	70347974	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	259	0.0039	33	c.143 others(52): Show c.1431+4005_1431+4006insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	13/30		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIF5B_chr10_32004015_32061425	32006436	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	364	0.0028	33	c.51 others(44): Show c.5100_*5101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	KIF5B	ENSG00000170759.11	transcript	ENST00000302418.5	protein_coding		2578		chr10	TogoVar
KIF6_chr6_39324990_39730408	39346085	T T	TCTCTCTC others(26): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0041 a0007c0016t0041	a0007c0016t0041g0043 a0007c0016t0041g0043	1	174	0.0058	33	c.223 others(50): Show c.2232-297_2232-296insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAG	KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	20/22			chr6	TogoVar
KIF6_chr6_39324990_39730408	39346162	T T	TCTCTCTC others(26): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03710.hp1 HG02040.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0032 a0001c0005t0031 a0001c0001t0032 a0001c0005t0031	a0001c0001t0032g0163 a0001c0005t0031g0076 a0001c0001t0032g0163 a0001c0005t0031g0076	2	174	0.0115	33	c.223 others(50): Show c.2231+313_2231+314insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAG	KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	20/22			chr6	TogoVar
KIFBP_chr10_68983803_69021982	69008391	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	408	0.0025	33	c.790 others(48): Show c.790-449_790-448insAAAAAAAAAAAAAAATATATATATATATAT ATA	KIFBP	ENSG00000198954.9	transcript	ENST00000361983.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIFBP_chr10_68983803_69021982	69008391	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	408	0.0025	33	c.790 others(48): Show c.790-449_790-448insAAAAAAAAAAATATATATATATATATATAT ATA	KIFBP	ENSG00000198954.9	transcript	ENST00000361983.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIR2DL3_chr19_54733513_54758052	54756381	A A	ATGTGGTG others(26): Show ATGTGGTGTCACTGGCAGAGGAAGGGAGCAAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA18967.hp2 HG02976.hp2 NA18967.hp2	a0000 a0000	a0000c0006 a0000c0016 a0000c0006 a0000c0016	a0000c0006t0005 a0000c0016t0012 a0000c0006t0005 a0000c0016t0012	a0000c0006t0005g0058 a0000c0016t0012g0052 a0000c0006t0005g0058 a0000c0016t0012g0052	2	312	0.0064	33	c.38 others(44): Show c.3862_*3863insTGTGGTGTCACTGGCAGAGGAAGGGAGCAAAGC	KIR2DL3	ENSG00000243772.8	transcript	ENST00000342376.4	protein_coding		3330		chr19	TogoVar
KIR3DL1_chr19_54811468_54835778	54835346	A A	ATGTGGTG others(26): Show ATGTGGTGTCACTGGCAGAGGAAGGGAGCAAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(58): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG02027.hp2 HG02083.hp1 HG02132.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02886.hp1 HG02965.hp1 HG03834.hp2 HG04115.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0002 a0026 a0002 a0026	a0002c0002 a0026c0037 a0002c0002 a0026c0037	a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 others(1): Show a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 a0026c0037t0002	a0002c0002t0002g0002 a0002c0002t0002g0020 a0002c0002t0002g0028 others(23): Show a0002c0002t0002g0002 a0002c0002t0002g0020 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0121 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0140 a0002c0002t0012g0002 a0002c0002t0013g0002 a0026c0037t0002g0125	61	395	0.1544	33	c.50 others(44): Show c.5071_*5072insTGTGGTGTCACTGGCAGAGGAAGGGAGCAAAGC	KIR3DL1	ENSG00000167633.18	transcript	ENST00000391728.8	protein_coding		4569		chr19	TogoVar
KIRREL3_chr11_126418358_127005770	126582825	A A	AAAGAAGT others(26): Show AAAGAAGTATTATCCTTAATTATCTGATGCACTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG00738.hp2 others(34): Show HG00280.hp1 HG00738.hp1 HG00738.hp2 HG01099.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01952.hp1 HG02055.hp2 HG02083.hp1 HG02258.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03098.hp2 HG03540.hp2 HG04204.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18962.hp1 NA19030.hp1 NA19070.hp1 NA20805.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0012 a0003c0006 a0004c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(22): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0042 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0016 a0001c0002t0021 a0001c0003t0001 a0001c0003t0026 a0001c0003t0034 a0001c0004t0014 a0001c0004t0029 a0001c0004t0030 a0001c0004t0037 a0001c0004t0038 a0001c0009t0031 a0001c0012t0001 a0003c0006t0005 a0004c0007t0003	a0001c0001t0002g0065 a0001c0001t0002g0092 a0001c0001t0002g0107 others(34): Show a0001c0001t0002g0065 a0001c0001t0002g0092 a0001c0001t0002g0107 a0001c0001t0004g0060 a0001c0001t0004g0095 a0001c0001t0004g0101 a0001c0001t0005g0016 a0001c0001t0005g0030 a0001c0001t0007g0055 a0001c0001t0007g0080 a0001c0001t0011g0017 a0001c0001t0042g0099 a0001c0002t0002g0042 a0001c0002t0002g0077 a0001c0002t0002g0085 a0001c0002t0004g0032 a0001c0002t0007g0045 a0001c0002t0009g0009 a0001c0002t0009g0021 a0001c0002t0010g0087 a0001c0002t0016g0091 a0001c0002t0021g0004 a0001c0003t0001g0053 a0001c0003t0001g0078 a0001c0003t0001g0096 a0001c0003t0001g0106 a0001c0003t0026g0026 a0001c0003t0034g0041 a0001c0004t0014g0083 a0001c0004t0029g0029 a0001c0004t0030g0012 a0001c0004t0037g0051 a0001c0004t0038g0074 a0001c0009t0031g0028 a0001c0012t0001g0072 a0003c0006t0005g0014 a0004c0007t0003g0113	37	114	0.3246	33	c.56- others(50): Show c.56-19946_56-19914dupCAGTGCATCAGATAATTAAGGATAATAC TTCTT	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KLF15_chr3_126337635_126362408	126343152	G G	GCCCCCCA others(26): Show GCCCCCCACCCCCCCACCCCCCCCCCCCACCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0120 a0001c0001t0088g0120	1	382	0.0026	33	c.57 others(42): Show c.574_*575insGGGGGTGGGGGGGGGGGGTGGGGGGGTGGGGGG	KLF15	ENSG00000163884.4	transcript	ENST00000296233.4	protein_coding	3/3	574		chr3	TogoVar
KLF15_chr3_126337635_126362408	126343152	G G	GCCCCCCA others(26): Show GCCCCCCACCCCCCCACCCCCCCCCCCCCCCACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0057 a0001c0001t0089g0057	1	382	0.0026	33	c.57 others(42): Show c.574_*575insGGTGGGGGGGGGGGGGGGTGGGGGGGTGGGGGG	KLF15	ENSG00000163884.4	transcript	ENST00000296233.4	protein_coding	3/3	574		chr3	TogoVar
KLF17_chr1_44113821_44140140	44127692	T T	TTCTTTCT others(26): Show TTCTTTCTTTTCTTTCTTTCTTTCTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0247 a0004c0004t0004g0247	1	444	0.0023	33	c.82- others(48): Show c.82-1660_82-1659insCTTTCTTTTCTTTCTTTCTTTCTTTTTCTT TCT	KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHDC1_chr14_49688120_49758150	49715765	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	208	0.0048	33	c.404 others(50): Show c.404+5385_404+5386insAAAAATATATATATATATATATATATAT ATATA	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	208	0.0048	33	c.22 others(44): Show c.2297_*2298insAAAAAAAATATATATATATATATATATATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01167.hp2 HG01256.hp1 others(3): Show HG00323.hp1 HG01167.hp2 HG01256.hp1 HG01943.hp2 HG02647.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0033 others(3): Show a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0105 a0001c0001t0001g0124	6	208	0.0289	33	c.22 others(44): Show c.2297_*2298insAAAAAATATATATATATATATATATATATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	208	0.0048	33	c.22 others(44): Show c.2297_*2298insAAAATATATATATATATATATATATATATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC4_chr16_87702812_87770986	87718339	C C	CCCCCTCC others(26): Show CCCCCTCCCTCTCCCTCCCCCTCCCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0340 a0002c0002t0001g0340	1	380	0.0026	33	c.760 others(50): Show c.760-3767_760-3766insAGAGGGAGGGGGAGGGGGAGGGAGAGGG AGGGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar
KLHL14_chr18_32667673_32778023	32773926	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG03453.hp1 HG02630.hp1 HG02809.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0160 a0001c0001t0001g0173 a0001c0001t0001g0147 a0001c0001t0001g0160 a0001c0001t0001g0173	3	204	0.0147	33	c.-13 others(44): Show c.-1304_-1303insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	KLHL14	ENSG00000197705.10	transcript	ENST00000359358.9	protein_coding		904		chr18	TogoVar
KLHL1_chr13_69695597_70113452	69818219	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03041.hp2 NA19240.hp2 HG02622.hp1 HG03041.hp2 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0002 a0001c0001t0018 a0005c0009t0023 a0001c0001t0002 a0001c0001t0018 a0005c0009t0023	a0001c0001t0002g0087 a0001c0001t0018g0130 a0005c0009t0023g0179 a0001c0001t0002g0087 a0001c0001t0018g0130 a0005c0009t0023g0179	3	182	0.0165	33	c.141 others(54): Show c.1414+20756_1414+20757insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	6/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	70024620	T T	TTCTCTCT others(26): Show TTCTCTCTCTCTCTCTCTTTCTCTCTCTTCTCTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	182	0.0055	33	c.498 others(52): Show c.498-48819_498-48818insGAGAGAAGAGAGAGAAAGAGAGAGAG AGAGAGA	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	1/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	70024620	T T	TTCTCTCT others(26): Show TTCTCTCTCTCTCTCTCTTTCTCTCTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01261.hp2 HG01192.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0026 a0001c0001t0005g0004 a0001c0001t0004g0026 a0001c0001t0005g0004	2	182	0.0110	33	c.498 others(52): Show c.498-48819_498-48818insGAGAGAGAAGAGAGAAAGAGAGAGAG AGAGAGA	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	1/10			chr13	TogoVar
KLHL20_chr1_173709981_173791692	173756282	A A	ACAGTGGC others(26): Show ACAGTGGCTCATGCCTATACAGCTTTCTGGAGGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01081.hp1 others(37): Show HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01192.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 others(2): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0003t0002 a0001c0004t0002	a0001c0002t0002g0008 a0001c0002t0002g0010 a0001c0002t0002g0020 others(31): Show a0001c0002t0002g0008 a0001c0002t0002g0010 a0001c0002t0002g0020 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0171 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0003g0018 a0001c0002t0003g0170 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0248 a0001c0002t0007g0008 a0001c0003t0002g0019 a0001c0003t0002g0034 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0004t0002g0033 a0001c0004t0002g0035	40	310	0.1290	33	c.967 others(48): Show c.967+248_967+280dupTGGCTCATGCCTATACAGCTTTCTGGAGGC CAG	KLHL20	ENSG00000076321.11	transcript	ENST00000209884.5	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHL23_chr2_169728832_169756878	169738868	T T	TCCCCCTC others(26): Show TCCCCCTCCTTCCCCCCTCCCCCTCCTTCCCCCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0144 a0001c0002t0144	a0001c0002t0144g0193 a0001c0002t0144g0193	1	400	0.0025	33	c.121 others(52): Show c.1214-2517_1214-2516insCCCCCTCCTTCCCCCCTCCCCCTCCT TCCCCCC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3			chr2	TogoVar
KLHL23_chr2_169728832_169756878	169740789	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0045 a0001c0001t0006g0045	1	400	0.0025	33	c.121 others(50): Show c.1214-593_1214-592insTATATATATATATATATATATATATATA TAATA	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL23_chr2_169728832_169756878	169747389	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	400	0.0025	33	c.136 others(52): Show c.1367-2014_1367-2013insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL32_chr6_96919728_97145753	97055796	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	244	0.0041	33	c.313 others(50): Show c.313-8806_313-8805insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	KLHL32	ENSG00000186231.17	transcript	ENST00000369261.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHL33_chr14_20420852_20441166	20420874	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	480	0.0021	33	c.79 others(44): Show c.7974_*7975insAAAAATATATATATATATATATATATATATATA	KLHL33	ENSG00000185271.9	transcript	ENST00000636854.3	protein_coding		4977		chr14	TogoVar
KLHL33_chr14_20420852_20441166	20432926	A A	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0102 a0003c0004t0102	a0003c0004t0102g0100 a0003c0004t0102g0100	1	480	0.0021	33	c.748 others(50): Show c.748+2137_748+2138insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	KLHL33	ENSG00000185271.9	transcript	ENST00000636854.3	protein_coding	2/4			chr14	TogoVar
KLHL38_chr8_123639442_123658801	123658373	G G	GACTAGGC others(26): Show GACTAGGCCAGTAGTGCAAATGTCTGCATTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0038 a0001c0002t0021g0038	1	446	0.0022	33	c.-47 others(44): Show c.-4790_-4789insTGGGAATGCAGACATTTGCACTACTGGCCTAGT	KLHL38	ENSG00000175946.9	transcript	ENST00000684634.1	protein_coding		4573		chr8	TogoVar

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Search Results (Total: 4928 hits)