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
DCC_chr18_52335197_53540899	53159008	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02257.hp2 HG02717.hp1 HG00642.hp1 HG02257.hp2 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009	a0001c0002t0002g0038 a0001c0002t0006g0009 a0001c0002t0009g0049 a0001c0002t0002g0038 a0001c0002t0006g0009 a0001c0002t0009g0049	3	114	0.0263	25	c.141 others(44): Show c.1418+1496_1418+1497insAAAAAAAAAAAAAAAAAAAAAAAAG	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	8/28			chr18	TogoVar
DCC_chr18_52335197_53540899	53226948	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0041 a0001c0003t0003g0041	1	114	0.0088	25	c.191 others(46): Show c.1911+11352_1911+11353insATATATATATATATTTTTTTTTTT T	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53226948	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0075 a0001c0003t0013g0075	1	114	0.0088	25	c.191 others(46): Show c.1911+11352_1911+11353insATATATATATATTTTTTTTTTTTT T	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53226948	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0112 a0001c0002t0033g0112	1	114	0.0088	25	c.191 others(46): Show c.1911+11352_1911+11353insATATATATATTTTTTTTTTTTTTT T	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53312900	A A	AGGAGGGA others(18): Show AGGAGGGAAGGGAAAGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp2 HG03139.hp1 HG02486.hp1 HG02717.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0005 a0002c0001t0001 a0002c0001t0007 a0001c0002t0005 a0002c0001t0001 a0002c0001t0007	a0001c0002t0005g0065 a0002c0001t0001g0044 a0002c0001t0007g0074 a0001c0002t0005g0065 a0002c0001t0001g0044 a0002c0001t0007g0074	3	114	0.0263	25	c.205 others(44): Show c.2053+7208_2053+7232dupGAGGGAAGGGAAAGGGAGGGGAGGG	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2C_chr2_3698575_3853008	3704650	A A	ATGGGGGA others(18): Show ATGGGGGAGGGGTGTGGAGAGGGGCG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	324	0.0031	25	c.287 others(40): Show c.287+619_287+643dupAGGGGTGTGGAGAGGGGCGTGGGGG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3848918	T T	TGCCGCAG others(18): Show TGCCGCAGCCCCGACACAGCAGTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03209.hp1 others(5): Show HG02896.hp1 HG02897.hp1 HG03209.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0013 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0001c0006t0024 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0006t0024 a0001c0013t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0011	a0001c0001t0001g0040 a0001c0002t0002g0122 a0001c0006t0024g0014 others(5): Show a0001c0001t0001g0040 a0001c0002t0002g0122 a0001c0006t0024g0014 a0001c0013t0001g0226 a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0002g0221 a0002c0003t0011g0235	8	324	0.0247	25	c.17 others(36): Show c.1735_*1736insGCCGCAGCCCCGACACAGCAGTGAC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding		911		chr2	TogoVar
DCDC2_chr6_24166755_24363059	24283371	G G	GCTCCCTG others(18): Show GCTCCCTGACCAACTCAGTTACGCAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00642.hp1 others(43): Show HG00140.hp2 HG00558.hp1 HG00642.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01358.hp2 HG01496.hp1 HG01978.hp2 HG02055.hp1 HG02129.hp2 HG02145.hp1 HG02486.hp1 HG02647.hp1 HG02886.hp1 HG02895.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp2 HG03540.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp2 NA18942.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA19065.hp2 NA19077.hp1 NA19082.hp2 NA19240.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0002c0004 a0002c0011 others(3): Show a0002c0002 a0002c0004 a0002c0011 a0003c0003 a0004c0005 a0004c0007	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(10): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0017 a0002c0002t0020 a0002c0004t0030 a0002c0011t0006 a0003c0003t0002 a0004c0005t0040 a0004c0007t0007	a0002c0002t0001g0133 a0002c0002t0003g0013 a0002c0002t0003g0028 others(43): Show a0002c0002t0001g0133 a0002c0002t0003g0013 a0002c0002t0003g0028 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0103 a0002c0002t0003g0105 a0002c0002t0003g0107 a0002c0002t0003g0108 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0114 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0128 a0002c0002t0003g0147 a0002c0002t0004g0074 a0002c0002t0004g0104 a0002c0002t0006g0009 a0002c0002t0006g0035 a0002c0002t0007g0182 a0002c0002t0007g0191 a0002c0002t0007g0206 a0002c0002t0007g0213 a0002c0002t0009g0125 a0002c0002t0009g0145 a0002c0002t0017g0014 a0002c0002t0017g0102 a0002c0002t0020g0034 a0002c0004t0030g0115 a0002c0011t0006g0124 a0003c0003t0002g0065 a0003c0003t0002g0084 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0136 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0140 a0003c0003t0002g0155 a0004c0005t0040g0210 a0004c0007t0007g0211	46	216	0.2130	25	c.760 others(42): Show c.760-5185_760-5161dupGTGCGTAACTGAGTTGGTCAGGGAG	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	6/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24358512	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	216	0.0046	25	c.-76 others(34): Show c.-763_-762insTTTTTTTTTTTTTTTTTTTTTTTTT	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding		454		chr6	TogoVar
DCDC2_chr6_24166755_24363059	24359035	T T	TATATATA others(18): Show TATATATATTATATATTTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03831.hp2 HG03710.hp2 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0014 a0001c0001t0001 a0002c0002t0014	a0001c0001t0001g0158 a0002c0002t0014g0157 a0001c0001t0001g0158 a0002c0002t0014g0157	2	216	0.0093	25	c.-12 others(36): Show c.-1286_-1285insGATATATAAAATATATAATATATAT	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding		977		chr6	TogoVar
DCHS2_chr4_154226742_154496799	154458171	A A	ATTATTTT others(18): Show ATTATTTTTAAATGAAATACTTCAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01071.hp1 others(13): Show HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG02280.hp1 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG04115.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0005 a0006 a0007 others(5): Show a0005 a0006 a0007 a0020 a0051 a0052 a0054 a0059	a0005c0006 a0006c0005 a0007c0015 others(6): Show a0005c0006 a0006c0005 a0007c0015 a0007c0031 a0020c0016 a0051c0030 a0052c0032 a0054c0034 a0059c0033	a0005c0006t0001 a0006c0005t0001 a0007c0015t0001 others(6): Show a0005c0006t0001 a0006c0005t0001 a0007c0015t0001 a0007c0031t0022 a0020c0016t0002 a0051c0030t0001 a0052c0032t0010 a0054c0034t0001 a0059c0033t0002	a0005c0006t0001g0027 a0005c0006t0001g0032 a0005c0006t0001g0036 others(13): Show a0005c0006t0001g0027 a0005c0006t0001g0032 a0005c0006t0001g0036 a0006c0005t0001g0029 a0006c0005t0001g0030 a0006c0005t0001g0031 a0006c0005t0001g0033 a0007c0015t0001g0023 a0007c0015t0001g0035 a0007c0031t0022g0037 a0020c0016t0002g0024 a0020c0016t0002g0025 a0051c0030t0001g0038 a0052c0032t0010g0034 a0054c0034t0001g0026 a0059c0033t0002g0028	16	192	0.0833	25	c.205 others(46): Show c.2052+31108_2052+31132dupATTGAAGTATTTCATTTAAAAATA A	DCHS2	ENSG00000197410.14	transcript	ENST00000357232.10	protein_coding	1/19			chr4	TogoVar
DCLK1_chr13_35763652_36136382	35976525	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01928.hp1 HG02040.hp2 others(11): Show HG01433.hp1 HG01928.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02735.hp1 NA18994.hp2 NA19070.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0030 a0001c0003t0001 a0001c0003t0002 a0001c0004t0003 a0001c0004t0007 a0001c0004t0011 a0001c0005t0001 a0001c0006t0004	a0001c0001t0001g0066 a0001c0001t0002g0062 a0001c0002t0002g0105 others(11): Show a0001c0001t0001g0066 a0001c0001t0002g0062 a0001c0002t0002g0105 a0001c0002t0003g0013 a0001c0002t0004g0039 a0001c0002t0030g0125 a0001c0003t0001g0106 a0001c0003t0001g0121 a0001c0003t0002g0065 a0001c0004t0003g0153 a0001c0004t0007g0223 a0001c0004t0011g0172 a0001c0005t0001g0165 a0001c0006t0004g0069	14	230	0.0609	25	c.724 others(44): Show c.724-29069_724-29068insAAAAAAAAAAAAAAAAAAAAAAAAA	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150190034	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	116	0.0086	25	c.757 others(42): Show c.757-3087_757-3086insAAAAAAAAAAAAAAAAAAAAAAAAA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150250994	T T	TCACACAC others(18): Show TCACACACCCCCAAACACCCCCCACA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0070 a0002c0002t0004g0070	1	116	0.0086	25	c.207 others(44): Show c.2073+1315_2073+1316insACCCCCAAACACCCCCCACACACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150251491	A A	ACCACACA others(18): Show ACCACACATCCCTCACACCCCCCAAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	116	0.0086	25	c.207 others(44): Show c.2073+1807_2073+1808insCCACACATCCCTCACACCCCCCAAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DCP2_chr5_112971798_113027195	112984701	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01928.hp1 HG00621.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0058 a0001c0002t0008 a0001c0002t0058	a0001c0002t0008g0055 a0001c0002t0058g0079 a0001c0002t0008g0055 a0001c0002t0058g0079	2	364	0.0055	25	c.54- others(40): Show c.54-1134_54-1133insTATATATATATATATATATATATAT	DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	1/10			chr5	TogoVar
DCP2_chr5_112971798_113027195	112984703	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0067 a0001c0001t0045g0067	1	364	0.0028	25	c.54- others(40): Show c.54-1132_54-1131insTATATATATATATATATATATATAT	DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	1/10			chr5	TogoVar
DCTN4_chr5_150703440_150764017	150729042	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0047 a0002c0002t0005g0047	1	286	0.0035	25	c.834 others(42): Show c.834+1564_834+1588dupAAAAAAAAAAAAAAAAAAAAAAAAA	DCTN4	ENSG00000132912.13	transcript	ENST00000447998.7	protein_coding	8/12			chr5	TogoVar
DCUN1D5_chr11_103045686_103097160	103049791	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0108 a0001c0001t0064g0108	1	318	0.0031	25	c.12 others(38): Show c.12567_*12568insAAAAAAAAAAAAAAAAAAAAAAAAA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		894		chr11	TogoVar
DCX_chrX_111288779_111417192	111404048	T T	TTAAAATA others(18): Show TTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	183	0.0055	25	c.365 others(42): Show c.365-2743_365-2719dupTTTTATTTTATTTTATTTTATTTTA	DCX	ENSG00000077279.21	transcript	ENST00000636035.2	protein_coding	2/6			chrX	TogoVar
DDA1_chr19_17304563_17328298	17315285	A A	AGTATACA others(18): Show AGTATACACACTATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0176 a0001c0001t0008g0176	1	388	0.0026	25	c.137 others(40): Show c.137-649_137-648insGTATACACACTATATATATACACAC	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4			chr19	TogoVar
DDI2_chr1_15612458_15674044	15671235	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0267 a0001c0001t0076g0267	1	272	0.0037	25	c.11 others(38): Show c.11445_*11446insTTTTTTTTTTTTTTTTTTTTTTTTT	DDI2	ENSG00000197312.13	transcript	ENST00000480945.6	protein_coding		2192		chr1	TogoVar
DDR2_chr1_162627464_162792405	162689841	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18983.hp1 NA19090.hp2 NA18982.hp2 NA18983.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0139 a0001c0001t0003g0159 a0001c0001t0003g0160	3	302	0.0099	25	c.-27 others(44): Show c.-27-29196_-27-29195insAAAAAAAAAAAAAAAAAAAAAAAAA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	2/17			chr1	TogoVar
DDR2_chr1_162627464_162792405	162741209	C C	CAATACAA others(18): Show CAATACAATACAATATAATATAATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0123 a0001c0001t0004g0123	1	302	0.0033	25	c.83- others(42): Show c.83-11882_83-11881insCAATACAATATAATATAATATAATA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDR2_chr1_162627464_162792405	162741209	C C	CAATACAA others(18): Show CAATACAATATAATATAATATAATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0241 a0001c0002t0019g0241	1	302	0.0033	25	c.83- others(42): Show c.83-11882_83-11881insCAATATAATATAATATAATATAATA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDR2_chr1_162627464_162792405	162741209	C C	CAATATAA others(18): Show CAATATAATATAATATAATATAATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	302	0.0033	25	c.83- others(42): Show c.83-11874_83-11850dupATATAATATAATATAATATAATATA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDX10_chr11_108660069_108945927	108837607	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18943.hp1 NA18982.hp2 others(1): Show HG04199.hp2 NA18943.hp1 NA18982.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0069 a0001c0001t0001g0073 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074	4	320	0.0125	25	c.196 others(42): Show c.1966-828_1966-804dupTTTTTTTTTTTTTTTTTTTTTTTTT	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX11_chr12_31068860_31109799	31070951	C C	CAGTAAAC others(18): Show CAGTAAACCCAACTTGGCTGTTTGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	418	0.0024	25	c.-31 others(36): Show c.-3145_-3144insAGTAAACCCAACTTGGCTGTTTGGT	DDX11	ENSG00000013573.17	transcript	ENST00000542838.6	protein_coding		2908		chr12	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	336	0.0030	25	c.58 others(36): Show c.5810_*5811insAAAAAAAAAAAAAAAAAATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	336	0.0030	25	c.58 others(36): Show c.5810_*5811insAAAAAAAAAAAAAAAATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01952.hp2 HG01346.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0210 a0001c0001t0001g0013 a0001c0001t0001g0210	2	336	0.0060	25	c.58 others(36): Show c.5810_*5811insAAAAAAAAAAAAAATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	336	0.0030	25	c.58 others(36): Show c.5810_*5811insAAAAAAAAAATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	336	0.0030	25	c.58 others(36): Show c.5810_*5811insAATATATATATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18987.hp2 NA19090.hp1 NA18984.hp1 NA18987.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0083	3	336	0.0089	25	c.58 others(36): Show c.5810_*5811insTATATATATATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX1_chr2_15586868_15636101	15612998	A A	AAAGAGAG others(18): Show AAAGAGAGGGAGAGGGAGACCGTGGG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0239 a0001c0001t0006g0239	1	396	0.0025	25	c.957 others(40): Show c.957-225_957-201dupAAGAGAGGGAGAGGGAGACCGTGGG	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX24_chr14_94043287_94086202	94065405	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0204 a0002c0003t0005g0204	1	371	0.0027	25	c.719 others(42): Show c.719-2785_719-2784insGTGTGTGTGTGTGTGTGTGTGTGTG	DDX24	ENSG00000089737.19	transcript	ENST00000621632.5	protein_coding	2/8			chr14	TogoVar
DDX59_chr1_200639037_200674907	200669895	T T	TGCGGGGC others(18): Show TGCGGGGCGGAGCGGAGCGGAGCGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0280 a0001c0003t0018g0280	1	390	0.0026	25	c.-14 others(34): Show c.-141_-140insTCCGCTCCGCTCCGCTCCGCCCCGC	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	1/8	3156		chr1	TogoVar
DDX60L_chr4_168351735_168485492	168428266	T T	TGGACCCT others(18): Show TGGACCCTTAAATAGCTCTAGGAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0042 a0042	a0042c0065 a0042c0065	a0042c0065t0002 a0042c0065t0002	a0042c0065t0002g0214 a0042c0065t0002g0214	1	268	0.0037	25	c.167 others(42): Show c.1678-969_1678-945dupCTCTCCTAGAGCTATTTAAGGGTCC	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	13/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168454758	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA19002.hp2 HG02698.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0003 a0001c0002t0001 a0002c0004t0003	a0001c0002t0001g0048 a0002c0004t0003g0024 a0001c0002t0001g0048 a0002c0004t0003g0024	2	268	0.0075	25	c.837 others(42): Show c.837+1280_837+1281insAAAAAAAAAAAAAAAAAAAAAAAAA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	7/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168286422	C C	CACACACC others(18): Show CACACACCCCACACGAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19030.hp2 HG02572.hp2 NA19030.hp2	a0003 a0003	a0003c0004 a0003c0014 a0003c0004 a0003c0014	a0003c0004t0001 a0003c0014t0001 a0003c0004t0001 a0003c0014t0001	a0003c0004t0001g0215 a0003c0014t0001g0047 a0003c0004t0001g0215 a0003c0014t0001g0047	2	270	0.0074	25	c.133 others(42): Show c.1339+625_1339+626insTCTATCTATCTCGTGTGGGGTGTGT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	10/37			chr4	TogoVar
DEAF1_chr11_639233_700222	683557	A A	ATTTCAAA others(18): Show ATTTCAAAACTGTTTTGGCTTTTTTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02004.hp2 HG01496.hp2 HG02004.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0020 a0001c0004t0001g0021 a0001c0004t0001g0020 a0001c0004t0001g0021	2	345	0.0058	25	c.870 others(42): Show c.870+1316_870+1340dupCAAAAAAGCCAAAACAGTTTTGAAA	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	6/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690341	C C	CAGGGGAG others(18): Show CAGGGGAGGGCAGGGGAGGGCAGGGG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	345	0.0029	25	c.387 others(42): Show c.387+1159_387+1160insCCCCTGCCCTCCCCTGCCCTCCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEF6_chr6_35292818_35326771	35308672	C C	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	326	0.0031	25	c.97- others(38): Show c.97-964_97-940dupATAAAATAAAATAAAATAAAATAAA	DEF6	ENSG00000023892.12	transcript	ENST00000316637.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
DEFA1_chr8_6972649_6985092	6974207	T T	TTTTCTTT others(18): Show TTTTCTTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02622.hp2 others(4): Show HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	7	408	0.0172	25	c.35 others(36): Show c.3562_*3563insGAAAGAAAGAAAGAAAGAAAAGAAA	DEFA1	ENSG00000206047.4	transcript	ENST00000382692.3	protein_coding		3441		chr8	TogoVar
DEFB116_chr20_31298212_31313585	31298455	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG03195.hp1 HG03453.hp2 HG00423.hp1 HG03195.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0004 a0001c0001t0000g0007 a0001c0001t0000g0001 a0001c0001t0000g0004 a0001c0001t0000g0007	3	416	0.0072	25	c.47 others(36): Show c.4756_*4757insTTTTTTTTTTTTTTTTTTTTTTTTT	DEFB116	ENSG00000215545.1	transcript	ENST00000400549.1	protein_coding		4756		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31460620	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02970.hp2 others(2): Show HG01109.hp1 HG02109.hp2 HG02970.hp2 HG03654.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0037 a0001c0001t0002g0053 a0001c0001t0002g0059 others(2): Show a0001c0001t0002g0037 a0001c0001t0002g0053 a0001c0001t0002g0059 a0001c0001t0002g0095 a0002c0003t0002g0020	5	362	0.0138	25	c.48 others(36): Show c.4885_*4886insTTTTTTTTTTTTTTTTTTTTTTTTT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding		4850		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31460635	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	362	0.0028	25	c.48 others(36): Show c.4870_*4871insGTTTTTTTTTTTTTTTTTTTTTTTT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding		4835		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31470798	A A	ACCCCGTC others(18): Show ACCCCGTCCCCGCGGGGGGCGGGGAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	362	0.0028	25	c.58+ others(40): Show c.58+2157_58+2158insGTCCCCGCCCCCCGCGGGGACGGGG	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB128_chr20_182853_194711	183617	G G	GGAAAAGA others(18): Show GGAAAAGAAAAGAAAAGAAAAGAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	470	0.0021	25	c.42 others(36): Show c.4268_*4269insTTTTCTTTTCTTTTCTTTTCTTTTC	DEFB128	ENSG00000185982.7	transcript	ENST00000334391.5	protein_coding		4235		chr20	TogoVar
DEFB135_chr8_11977256_11989590	11977307	T T	TGGTTGGT others(18): Show TGGTTGGTGGTGTTGGCAGCAGGCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	430	0.0023	25	c.-50 others(36): Show c.-5014_-5013insGGTTGGTGGTGTTGGCAGCAGGCTA	DEFB135	ENSG00000205883.3	transcript	ENST00000382208.3	protein_coding		4948		chr8	TogoVar

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Search Results (Total: 8644 hits)