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
AK5_chr1_77277019_77564966	77368244	T T	TTATATAT others(20): Show TTATATATATATATATATGTTATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0101 a0002c0002t0011g0101	1	284	0.0035	27	c.891 others(46): Show c.891+27676_891+27677insTATATATATATATATATGTTATATAT A	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13			chr1	TogoVar
AK7_chr14_96387128_96494427	96418322	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01168.hp2 HG01358.hp1 others(6): Show HG00735.hp2 HG01168.hp2 HG01358.hp1 HG01361.hp2 HG02257.hp2 HG02602.hp1 HG02886.hp1 HG04228.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0087 a0001c0001t0001g0131 a0001c0001t0001g0132 others(6): Show a0001c0001t0001g0087 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0160 a0001c0001t0001g0299 a0001c0001t0002g0135 a0001c0001t0007g0287	9	316	0.0285	27	c.499 others(44): Show c.499-2485_499-2484insAAAAAAAAAAAAAAAAAAAAAAAAAAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AK8_chr9_132720578_132883284	132812514	C C	CGGGTGAG others(20): Show CGGGTGAGCCGCCGCGCCCACTGGGATG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	266	0.0038	27	c.979 others(44): Show c.979+2123_979+2124insCATCCCAGTGGGCGCGGCGGCTCACCC	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12			chr9	TogoVar
AKAP12_chr6_151234967_151363559	151354345	T T	TTTTGTGG others(20): Show TTTTGTGGTAGTGTAACATAATACAAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG01884.hp1 others(65): Show HG00423.hp1 HG00673.hp2 HG01884.hp1 HG01928.hp2 HG02004.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03579.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18959.hp2 NA18960.hp2 NA18969.hp1 NA18969.hp2 NA18980.hp2 NA18985.hp2 NA18989.hp2 NA18991.hp1 NA19010.hp2 NA19030.hp2 NA19057.hp1 NA19064.hp1 NA19070.hp2 NA19079.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1	a0003 a0006 a0007 others(12): Show a0003 a0006 a0007 a0011 a0014 a0015 a0018 a0019 a0020 a0022 a0025 a0027 a0030 a0039 a0041	a0003c0004 a0003c0008 a0003c0031 others(20): Show a0003c0004 a0003c0008 a0003c0031 a0006c0009 a0006c0045 a0006c0062 a0007c0010 a0007c0065 a0011c0021 a0011c0030 a0014c0014 a0015c0022 a0015c0040 a0018c0024 a0019c0025 a0020c0047 a0020c0048 a0022c0026 a0025c0069 a0027c0064 a0030c0053 a0039c0041 a0041c0033	a0003c0004t0003 a0003c0004t0007 a0003c0004t0042 others(32): Show a0003c0004t0003 a0003c0004t0007 a0003c0004t0042 a0003c0008t0003 a0003c0031t0003 a0003c0031t0007 a0006c0009t0006 a0006c0009t0018 a0006c0009t0024 a0006c0045t0011 a0006c0062t0006 a0007c0010t0008 a0007c0010t0017 a0007c0010t0029 a0007c0065t0008 a0011c0021t0022 a0011c0021t0049 a0011c0030t0016 a0014c0014t0016 a0014c0014t0046 a0014c0014t0047 a0015c0022t0035 a0015c0022t0036 a0015c0040t0041 a0018c0024t0006 a0019c0025t0022 a0019c0025t0026 a0020c0047t0011 a0020c0048t0011 a0022c0026t0011 a0025c0069t0003 a0027c0064t0003 a0030c0053t0019 a0039c0041t0040 a0041c0033t0003	a0003c0004t0003g0006 a0003c0004t0003g0007 a0003c0004t0003g0008 others(65): Show a0003c0004t0003g0006 a0003c0004t0003g0007 a0003c0004t0003g0008 a0003c0004t0003g0051 a0003c0004t0003g0068 a0003c0004t0003g0074 a0003c0004t0003g0103 a0003c0004t0003g0189 a0003c0004t0003g0202 a0003c0004t0003g0231 a0003c0004t0003g0278 a0003c0004t0003g0306 a0003c0004t0007g0159 a0003c0004t0007g0193 a0003c0004t0007g0204 a0003c0004t0007g0232 a0003c0004t0007g0241 a0003c0004t0042g0258 a0003c0008t0003g0022 a0003c0008t0003g0048 a0003c0008t0003g0072 a0003c0008t0003g0075 a0003c0008t0003g0131 a0003c0008t0003g0274 a0003c0008t0003g0302 a0003c0008t0003g0309 a0003c0031t0003g0219 a0003c0031t0007g0269 a0006c0009t0006g0015 a0006c0009t0006g0031 a0006c0009t0006g0071 a0006c0009t0006g0082 a0006c0009t0018g0178 a0006c0009t0018g0180 a0006c0009t0024g0262 a0006c0045t0011g0034 a0006c0062t0006g0116 a0007c0010t0008g0003 a0007c0010t0008g0077 a0007c0010t0008g0183 a0007c0010t0008g0212 a0007c0010t0017g0033 a0007c0010t0017g0122 a0007c0010t0029g0005 a0007c0065t0008g0036 a0011c0021t0022g0024 a0011c0021t0049g0019 a0011c0030t0016g0017 a0011c0030t0016g0114 a0014c0014t0016g0011 a0014c0014t0046g0168 a0014c0014t0047g0170 a0015c0022t0035g0289 a0015c0022t0036g0296 a0015c0040t0041g0029 a0018c0024t0006g0206 a0018c0024t0006g0247 a0019c0025t0022g0016 a0019c0025t0026g0312 a0020c0047t0011g0112 a0020c0048t0011g0121 a0022c0026t0011g0002 a0022c0026t0011g0052 a0025c0069t0003g0065 a0027c0064t0003g0209 a0030c0053t0019g0196 a0039c0041t0040g0310 a0041c0033t0003g0081	68	316	0.2152	27	c.12 others(42): Show c.12+593_*12+594insTTTGTGGTAGTGTAACATAATACAAGA	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/4			chr6	TogoVar
AKAP13_chr15_85375603_85754355	85504503	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0039 a0002c0039	a0002c0039t0002 a0002c0039t0002	a0002c0039t0002g0134 a0002c0039t0002g0134	1	314	0.0032	27	c.34- others(44): Show c.34-16919_34-16893dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0009 a0008c0009t0009	a0008c0009t0009g0148 a0008c0009t0009g0148	1	314	0.0032	27	c.416 others(48): Show c.4162-25661_4162-25660insATATATATATATATATATATATAT ATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
AKAP1_chr17_57080246_57126344	57119830	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03486.hp2 NA21309.hp1 HG03453.hp2 HG03486.hp2 NA21309.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0002 a0003c0022 a0009c0021 a0001c0002 a0003c0022 a0009c0021	a0001c0002t0005 a0003c0022t0005 a0009c0021t0006 a0001c0002t0005 a0003c0022t0005 a0009c0021t0006	a0001c0002t0005g0062 a0003c0022t0005g0052 a0009c0021t0006g0053 a0001c0002t0005g0062 a0003c0022t0005g0052 a0009c0021t0006g0053	3	396	0.0076	27	c.263 others(44): Show c.2638-400_2638-399insTTTTTTTTTTTTTTTTTTTTTTTTTTT	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
AKAP6_chr14_32324298_32842684	32615591	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0024 a0024	a0024c0042 a0024c0042	a0024c0042t0015 a0024c0042t0015	a0024c0042t0015g0151 a0024c0042t0015g0151	1	154	0.0065	27	c.273 others(48): Show c.2730+14821_2730+14822insTTTTTTTTTTTTTTTTTTTTTTTT TTT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32780155	A A	AAACATAT others(20): Show AAACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01109.hp1 others(8): Show HG00099.hp2 HG00639.hp1 HG01109.hp1 HG01993.hp1 HG02615.hp2 HG02647.hp2 HG02735.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp2 NA19077.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0015 a0017	a0001c0004 a0001c0010 a0002c0002 others(6): Show a0001c0004 a0001c0010 a0002c0002 a0003c0003 a0003c0005 a0004c0007 a0007c0015 a0015c0046 a0017c0031	a0001c0004t0007 a0001c0010t0005 a0002c0002t0001 others(8): Show a0001c0004t0007 a0001c0010t0005 a0002c0002t0001 a0002c0002t0024 a0003c0003t0002 a0003c0003t0045 a0003c0005t0002 a0004c0007t0018 a0007c0015t0018 a0015c0046t0001 a0017c0031t0001	a0001c0004t0007g0110 a0001c0010t0005g0070 a0002c0002t0001g0052 others(8): Show a0001c0004t0007g0110 a0001c0010t0005g0070 a0002c0002t0001g0052 a0002c0002t0024g0077 a0003c0003t0002g0025 a0003c0003t0045g0107 a0003c0005t0002g0091 a0004c0007t0018g0042 a0007c0015t0018g0089 a0015c0046t0001g0126 a0017c0031t0001g0026	11	154	0.0714	27	c.358 others(46): Show c.3588+6263_3588+6264insACATATATATATATATATATATATAT A	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32780157	C C	CCATATAT others(20): Show CCATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03098.hp2 HG01884.hp2 HG03098.hp2	a0018 a0023 a0018 a0023	a0018c0033 a0023c0041 a0018c0033 a0023c0041	a0018c0033t0019 a0023c0041t0008 a0018c0033t0019 a0023c0041t0008	a0018c0033t0019g0147 a0023c0041t0008g0047 a0018c0033t0019g0147 a0023c0041t0008g0047	2	154	0.0130	27	c.358 others(46): Show c.3588+6264_3588+6265insCATATATATATATATATATATATATA T	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13			chr14	TogoVar
AKAP8L_chr19_15375050_15423988	15392896	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0226 a0001c0002t0001g0226	1	254	0.0039	27	c.153 others(46): Show c.1536+4253_1536+4254insTTTTTTTTTTTTTTTTTTTTTTTTTT T	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	12/13			chr19	TogoVar
AKR1C4_chr10_5191837_5223949	5221401	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	434	0.0023	27	c.26 others(38): Show c.2641_*2642insAAAAAAAAAAAAAAAAAAAAAAAAAAA	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding		2453		chr10	TogoVar
AKT3_chr1_243494724_243855243	243686651	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18982.hp1 HG02004.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0255 a0001c0001t0009g0001 a0001c0001t0001g0255 a0001c0001t0009g0001	2	301	0.0066	27	c.172 others(44): Show c.172+8939_172+8940insATATATATATATATATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686651	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02165.hp1 HG02257.hp1 others(1): Show HG01993.hp2 HG02165.hp1 HG02257.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0259 others(1): Show a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0009g0003	4	301	0.0133	27	c.172 others(44): Show c.172+8939_172+8940insAAATATATATATATATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
ALCAM_chr3_105361909_105581900	105368264	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02922.hp1 HG03017.hp2 others(1): Show HG02895.hp2 HG02922.hp1 HG03017.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0297 a0001c0002t0001g0296 a0001c0003t0001g0072 others(1): Show a0001c0001t0001g0297 a0001c0002t0001g0296 a0001c0003t0001g0072 a0001c0003t0001g0359	4	378	0.0106	27	c.73+ others(40): Show c.73+783_73+784insGAGAGAGAGAGAGAGAGAGAGAGAGAG	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15			chr3	TogoVar
ALDH16A1_chr19_49448225_49476050	49452302	C C	CAGATCTA others(20): Show CAGATCTAGACCCGCCAGGTCTAGATCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 NA18612.hp2 HG03704.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0100 a0001c0001t0001g0107	2	342	0.0059	27	c.-10 others(38): Show c.-1030_-1029insAGATCTAGACCCGCCAGGTCTAGATCT	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding		922		chr19	TogoVar
ALDH1L1_chr3_126098570_126185586	126158082	C C	CCTGGTGC others(20): Show CCTGGTGCCCTCTCTGTCCCTGCGCCTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0308 a0002c0002t0001g0308	1	338	0.0030	27	c.362 others(42): Show c.362+296_362+322dupAAGGCGCAGGGACAGAGAGGGCACCAG	ALDH1L1	ENSG00000144908.14	transcript	ENST00000393434.7	protein_coding	3/22			chr3	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0181 a0001c0002t0010g0181	1	386	0.0026	27	c.194 others(42): Show c.194-839_194-838insAAATATATATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0163 a0002c0004t0002g0163	1	386	0.0026	27	c.194 others(42): Show c.194-839_194-838insAAAAATATATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	386	0.0026	27	c.194 others(42): Show c.194-839_194-838insAAAAAAATATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0022 a0001c0001t0013g0022	1	386	0.0026	27	c.194 others(42): Show c.194-839_194-838insAAAAAAAAAAAAATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH3B2_chr11_67657155_67679623	67667555	G G	GCCCGGAA others(20): Show GCCCGGAACTCGGCCGGCCGCGTGCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0184 a0002c0002t0022g0184	1	390	0.0026	27	c.-19 others(36): Show c.-191_-165dupGGCGCACGCGGCCGGCCGAGTTCCGGG	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	2/10	621		chr11	TogoVar
ALG9_chr11_111777195_111876581	111850706	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02135.hp1 HG04199.hp2 others(7): Show HG00408.hp2 HG02135.hp1 HG04199.hp2 NA18947.hp2 NA18997.hp1 NA19007.hp2 NA19010.hp2 NA19058.hp1 NA19078.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0010t0002 a0001c0001t0002 a0001c0010t0002	a0001c0001t0002g0155 a0001c0001t0002g0182 a0001c0001t0002g0183 others(7): Show a0001c0001t0002g0155 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0192 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0010t0002g0206	10	314	0.0319	27	c.895 others(44): Show c.895+2673_895+2674insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	8/14			chr11	TogoVar
ALKBH8_chr11_107497727_107570735	107529992	G G	GACACACA others(20): Show GACACACAGTTTCAGGTACTGCTGCCAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	400	0.0025	27	c.878 others(44): Show c.878+2281_878+2307dupTTGGCAGCAGTACCTGAAACTGTGTGT	ALKBH8	ENSG00000137760.15	transcript	ENST00000428149.7	protein_coding	8/11			chr11	TogoVar
ALK_chr2_29187774_29926586	29830955	A A	AAAGAAGA others(20): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA20300.hp2 HG03209.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0047 a0001c0006 a0002c0047	a0001c0006t0007 a0002c0047t0001 a0001c0006t0007 a0002c0047t0001	a0001c0006t0007g0056 a0002c0047t0001g0055 a0001c0006t0007g0056 a0002c0047t0001g0055	2	80	0.0250	27	c.667 others(46): Show c.667+89011_667+89037dupCTTCTTCTTCTTCTTCTTCTTCTTCT T	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29831259	G G	GGAAGAAG others(20): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0034 a0003c0012t0002g0034	1	80	0.0125	27	c.667 others(46): Show c.667+88707_667+88733dupTTCTTCTTCTTCTTCTTCTTCTTCTT C	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0085 a0001c0010t0004g0085	1	470	0.0021	27	c.71 others(36): Show c.718_*719insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		150		chr17	TogoVar
ALPK1_chr4_112292369_112447621	112355388	C C	CGAGCAGA others(20): Show CGAGCAGAAGCTGGACCGAGCGGGAGAG	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	306	0.0033	27	c.-10 others(48): Show c.-100-22287_-100-22261dupGCAGAAGCTGGACCGAGCGGGAGA GGA	ALPK1	ENSG00000073331.18	transcript	ENST00000650871.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ALPK2_chr18_58476247_58634091	58550637	C C	CGTACAAC others(20): Show CGTACAACCCCATCCCCGTCTCCATCAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02486.hp1 others(7): Show HG01243.hp1 HG02055.hp1 HG02486.hp1 HG03098.hp2 HG03209.hp2 HG03579.hp2 NA18522.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0006 a0008 a0011 others(2): Show a0006 a0008 a0011 a0012 a0062	a0006c0024 a0008c0035 a0011c0021 others(2): Show a0006c0024 a0008c0035 a0011c0021 a0012c0023 a0062c0077	a0006c0024t0001 a0006c0024t0005 a0006c0024t0013 others(6): Show a0006c0024t0001 a0006c0024t0005 a0006c0024t0013 a0008c0035t0006 a0011c0021t0001 a0011c0021t0006 a0012c0023t0001 a0012c0023t0013 a0062c0077t0005	a0006c0024t0001g0271 a0006c0024t0005g0279 a0006c0024t0013g0090 others(7): Show a0006c0024t0001g0271 a0006c0024t0005g0279 a0006c0024t0013g0090 a0008c0035t0006g0058 a0011c0021t0001g0274 a0011c0021t0001g0275 a0011c0021t0006g0066 a0012c0023t0001g0137 a0012c0023t0013g0092 a0062c0077t0005g0272	10	320	0.0313	27	c.196 others(48): Show c.1963-12440_1963-12414dupATGATGGAGACGGGGATGGGGTTG TAC	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPP_chr2_232373751_232387889	232385077	G G	GGAAGAAG others(20): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00738.hp1 HG01257.hp1 others(8): Show HG00423.hp1 HG00738.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG03139.hp2 HG04115.hp2 NA18948.hp2 NA18974.hp2 NA19004.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0006 a0001c0001 a0002c0005 a0002c0006	a0001c0001t0001 a0002c0005t0001 a0002c0006t0001 a0001c0001t0001 a0002c0005t0001 a0002c0006t0001	a0001c0001t0001g0001 a0002c0005t0001g0005 a0002c0006t0001g0001 a0001c0001t0001g0001 a0002c0005t0001g0005 a0002c0006t0001g0001	11	410	0.0268	27	c.32 others(38): Show c.3282_*3283insGAAGAAGAAGAAGAAGAAGAAGAAGAA	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2189		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(20): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	27	c.33 others(38): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(20): Show AAGAAGAAGAAGAAGAAGAAGAAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01168.hp1 HG01123.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	410	0.0049	27	c.33 others(38): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(20): Show AAGAAGAAGAAGAAGAAGAAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02723.hp2 HG02896.hp2 others(1): Show HG01496.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0002c0006t0001g0001 a0001c0001t0001g0001 a0001c0001t0001g0015 a0002c0006t0001g0001	4	410	0.0098	27	c.33 others(38): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(20): Show AAGAAGAAGAAGAAGAAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	27	c.33 others(38): Show c.3320_*3321insAGAAGAAGAAGAAGAAGGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALX3_chr1_110054870_110075672	110062604	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTCACAACAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03098.hp1 HG03834.hp2 HG02965.hp2 HG03098.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0068 a0001c0001t0004g0036 a0001c0001t0004g0068	3	422	0.0071	27	c.595 others(44): Show c.595-1042_595-1041insCTTTCTTCTGTTGTGACACACACACAC	ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	2/3			chr1	TogoVar
ALX3_chr1_110054870_110075672	110062608	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTCACAACAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02717.hp1 others(1): Show HG02145.hp2 HG02258.hp2 HG02717.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0007 a0001c0001t0006 a0001c0002t0007	a0001c0001t0006g0102 a0001c0002t0007g0048 a0001c0002t0007g0113 a0001c0001t0006g0102 a0001c0002t0007g0048 a0001c0002t0007g0113	4	422	0.0095	27	c.595 others(44): Show c.595-1046_595-1045insCTTTCTTCTGTTGTGACACACACACAC	ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	2/3			chr1	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0017 a0001c0001t0003g0018	2	160	0.0125	27	c.-12 others(46): Show c.-121+8132_-121+8133insATATATATATATATATATATATATTT T	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03225.hp1 HG02895.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0015 a0001c0002t0002g0148 a0001c0001t0003g0015 a0001c0002t0002g0148	2	160	0.0125	27	c.-12 others(46): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT T	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMDHD2_chr16_2515371_2536417	2533430	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18995.hp1 NA18955.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	318	0.0063	27	c.38 others(38): Show c.3867_*3868insTTTTTTTTTTTTTTTTTTTTTTTTTTT	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		2014		chr16	TogoVar
AMFR_chr16_56356452_56430545	56406552	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01884.hp2 NA18950.hp1 HG00099.hp1 HG01884.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009	a0001c0001t0005g0032 a0001c0001t0006g0015 a0001c0001t0009g0217 a0001c0001t0005g0032 a0001c0001t0006g0015 a0001c0001t0009g0217	3	356	0.0084	27	c.667 others(44): Show c.667-1309_667-1308insTTTTTTTTTTTTTTTTTTTTTTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMIGO1_chr1_109499178_109514727	109510429	C C	CCAGGGAC others(20): Show CCAGGGACAATTTCCATTCCTGGAAACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	400	0.0025	27	c.-10 others(38): Show c.-1098_-1097insAGTTTCCAGGAATGGAAATTGTCCCTG	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		703		chr1	TogoVar
AMZ2_chr17_68243043_68262155	68247357	A A	AAAAAAAA others(20): Show AAAAAAAAAAGCAAGAAAAAGAAATAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG03486.hp2 others(2): Show HG02109.hp2 HG02976.hp2 HG03486.hp2 NA18906.hp2 NA19043.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0019 a0003c0004t0001g0033 a0003c0004t0001g0058 a0003c0004t0001g0019 a0003c0004t0001g0033 a0003c0004t0001g0058	5	438	0.0114	27	c.-13 others(38): Show c.-1349_-1348insAAAAAAAAAGCAAGAAAAAGAAATAAG	AMZ2	ENSG00000196704.14	transcript	ENST00000359904.8	protein_coding		685		chr17	TogoVar
ANAPC1_chr2_111762640_111889193	111832937	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0186 a0001c0004t0003g0186	1	370	0.0027	27	c.247 others(44): Show c.2476+282_2476+283insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	20/47			chr2	TogoVar
ANAPC5_chr12_121303245_121357411	121352715	T T	TTGGTGGT others(20): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	278	0.0036	27	c.-37 others(36): Show c.-376_-375insCCACCACCACCACCACCACCACCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		305		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGTTGGT others(20): Show TTGTTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG03130.hp2 HG01106.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0230 a0001c0001t0001g0150 a0001c0001t0001g0230	2	278	0.0072	27	c.-37 others(36): Show c.-379_-378insCCACCACCACCACCACCACCACCAACA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110382461	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	298	0.0034	27	c.935 others(42): Show c.935+381_935+382insATATATATATATATATATATATATATA	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10			chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110387286	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGACAGAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	298	0.0034	27	c.674 others(42): Show c.674+452_674+453insGTCTGTCTCTCTCTCTCTCTCTCTCTC	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	5/10			chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110394669	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0273 a0001c0003t0001g0273	1	298	0.0034	27	c.408 others(42): Show c.408+405_408+431dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	3/10			chr12	TogoVar
ANGEL2_chr1_212987182_213020867	212996640	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	392	0.0026	27	c.148 others(44): Show c.1483+514_1483+515insATATATATATATATATATATTTTTTTT	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	8/8			chr1	TogoVar
ANGEL2_chr1_212987182_213020867	213015979	A A	ACTTTCTT others(20): Show ACTTTCTTTTTTTTCTTTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02293.hp2 HG01106.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0059 a0001c0001t0004g0056 a0001c0001t0004g0059	2	392	0.0051	27	c.-30 others(36): Show c.-309_-308insAAAGAAAGAAAAAGAAAAAAAAGAAAG	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding		113		chr1	TogoVar

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Search Results (Total: 7463 hits)