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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
AHI1_chr6_135278532_135502740	135374081	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	220	0.0046	12	c.311 others(33): Show c.3110-15906_3110-15895dupATATATATATAT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135383226	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02056.hp1 HG02258.hp2 others(3): Show HG01167.hp2 HG02056.hp1 HG02258.hp2 HG03540.hp2 NA18999.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0011 a0001c0001t0002g0170 a0001c0001t0002g0173 others(3): Show a0001c0001t0002g0011 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0212 a0001c0002t0004g0028 a0001c0002t0004g0031	6	220	0.0273	12	c.310 others(33): Show c.3109+11538_3109+11549dupAAAAAAAAAAAA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHRR_chr5_316714_443285	318070	C C	CCCTTGCC others(5): Show CCCTTGCCCTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0211 a0002c0002t0019g0211	1	268	0.0037	12	c.-37 others(23): Show c.-3760_-3759insCCTTGCCCTGCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3643		chr5	TogoVar
AHRR_chr5_316714_443285	345196	G G	GCGCGGGG others(5): Show GCGCGGGGGGAGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0014 a0003c0004t0004g0014	1	268	0.0037	12	c.62+ others(27): Show c.62+1232_62+1233insCGCGGGGGGAGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10			chr5	TogoVar
AHRR_chr5_316714_443285	429481	G G	GCCCTGCC others(5): Show GCCCTGCCCCTGC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01106.hp2 HG01123.hp1 others(20): Show HG01070.hp1 HG01106.hp2 HG01123.hp1 HG01255.hp2 HG01261.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02132.hp2 HG02647.hp1 HG02698.hp2 HG03225.hp1 HG04204.hp2 NA18962.hp2 NA18970.hp1 NA18998.hp1 NA19060.hp1 NA19085.hp2 NA20300.hp1	a0001 a0013 a0014 others(1): Show a0001 a0013 a0014 a0016	a0001c0001 a0001c0008 a0001c0010 others(3): Show a0001c0001 a0001c0008 a0001c0010 a0013c0015 a0014c0014 a0016c0012	a0001c0001t0005 a0001c0001t0016 a0001c0001t0040 others(7): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0008t0025 a0001c0010t0005 a0013c0015t0005 a0014c0014t0020 a0016c0012t0020	a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0068 others(20): Show a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0094 a0001c0001t0005g0112 a0001c0001t0005g0181 a0001c0001t0005g0199 a0001c0001t0016g0065 a0001c0001t0016g0066 a0001c0001t0016g0113 a0001c0001t0040g0051 a0001c0001t0041g0078 a0001c0001t0042g0203 a0001c0008t0025g0158 a0001c0008t0025g0159 a0001c0010t0005g0084 a0013c0015t0005g0115 a0014c0014t0020g0035 a0016c0012t0020g0239	23	268	0.0858	12	c.908 others(29): Show c.908+1479_908+1490dupTGCCCCTGCCCC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	441497	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00741.hp1 others(8): Show HG00438.hp1 HG00597.hp1 HG00741.hp1 HG01109.hp1 HG01978.hp2 HG02080.hp1 HG02258.hp1 HG04184.hp1 NA18964.hp1 NA18974.hp2 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0011 a0002c0002t0019 others(1): Show a0002c0002t0001 a0002c0002t0011 a0002c0002t0019 a0002c0002t0026	a0002c0002t0001g0067 a0002c0002t0001g0105 a0002c0002t0001g0107 others(8): Show a0002c0002t0001g0067 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0122 a0002c0002t0001g0131 a0002c0002t0001g0146 a0002c0002t0001g0188 a0002c0002t0011g0040 a0002c0002t0019g0007 a0002c0002t0026g0119 a0002c0002t0026g0136	11	268	0.0410	12	c.66 others(23): Show c.6663_*6664insTTTTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3213		chr5	TogoVar
AHR_chr7_17293652_17351147	17294004	G G	GTGTATAT others(5): Show GTGTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01256.hp1 HG01258.hp1 others(20): Show HG00735.hp1 HG01256.hp1 HG01258.hp1 HG01515.hp1 HG02004.hp2 HG02040.hp2 HG02148.hp1 HG02896.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 NA18944.hp2 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18968.hp1 NA18973.hp1 NA18989.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19080.hp1 NA19082.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0012 a0001c0001 a0002c0002 a0003c0012	a0001c0001t0001 a0002c0002t0002 a0003c0012t0012 a0001c0001t0001 a0002c0002t0002 a0003c0012t0012	a0001c0001t0001g0067 a0001c0001t0001g0105 a0002c0002t0002g0002 others(14): Show a0001c0001t0001g0067 a0001c0001t0001g0105 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0008 a0002c0002t0002g0028 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0059 a0002c0002t0002g0062 a0002c0002t0002g0071 a0002c0002t0002g0079 a0002c0002t0002g0081 a0002c0002t0002g0084 a0002c0002t0002g0098 a0002c0002t0002g0099 a0003c0012t0012g0115	23	370	0.0622	12	c.-52 others(23): Show c.-5261_-5260insTGTATATATATA	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding		4647		chr7	TogoVar
AHR_chr7_17293652_17351147	17294004	G G	GTGTGTAT others(5): Show GTGTGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0082 a0002c0002t0038g0082	1	370	0.0027	12	c.-52 others(23): Show c.-5261_-5260insTGTGTATATATA	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding		4647		chr7	TogoVar
AHR_chr7_17293652_17351147	17298456	C C	CGGGGGGG others(5): Show CGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0053 a0001c0001t0008g0053	1	370	0.0027	12	c.-80 others(21): Show c.-809_-808insGGGGGGGGGGGG	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding		195		chr7	TogoVar
AHR_chr7_17293652_17351147	17298458	G G	GGGGGGGG others(5): Show GGGGGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0023 a0009c0009t0023	a0009c0009t0023g0049 a0009c0009t0023g0049	1	370	0.0027	12	c.-80 others(21): Show c.-807_-806insGGGGGGGGGGGC	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding		193		chr7	TogoVar
AHR_chr7_17293652_17351147	17321594	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02080.hp1 HG02165.hp2 others(4): Show HG01099.hp2 HG02080.hp1 HG02165.hp2 HG02615.hp2 HG02717.hp1 NA18980.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0171 others(4): Show a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0171 a0001c0001t0001g0197 a0001c0001t0001g0245 a0001c0001t0005g0207 a0001c0001t0005g0211	7	370	0.0189	12	c.254 others(27): Show c.254-893_254-882dupCACACACACACA	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHSP_chr16_31522900_31533803	31532696	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	388	0.0026	12	c.40 others(23): Show c.4005_*4006insTTTTTTTTTTTT	AHSP	ENSG00000169877.10	transcript	ENST00000302312.9	protein_coding		3894		chr16	TogoVar
AICDA_chr12_8597170_8617859	8610993	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	458	0.0022	12	c.8+1 others(25): Show c.8+1755_8+1766dupCACACACACACA	AICDA	ENSG00000111732.12	transcript	ENST00000229335.11	protein_coding	1/4			chr12	TogoVar
AIDA_chr1_222663013_222717491	222689481	G G	GTGTATAT others(5): Show GTGTATATATATA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18991.hp1 NA18965.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0128 a0001c0001t0002g0101 a0001c0001t0002g0128	2	368	0.0054	12	c.290 others(29): Show c.290-1824_290-1823insTATATATATACA	AIDA	ENSG00000186063.13	transcript	ENST00000340020.11	protein_coding	4/9			chr1	TogoVar
AIDA_chr1_222663013_222717491	222689481	G G	GTGTGTAT others(5): Show GTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03540.hp2 HG03195.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	2	368	0.0054	12	c.290 others(29): Show c.290-1824_290-1823insTATATATACACA	AIDA	ENSG00000186063.13	transcript	ENST00000340020.11	protein_coding	4/9			chr1	TogoVar
AIDA_chr1_222663013_222717491	222689520	T T	TATATATA others(5): Show TATATATATACAC	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA19011.hp2 HG03490.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0145 a0001c0001t0002g0096 a0001c0001t0002g0145	2	368	0.0054	12	c.290 others(29): Show c.290-1863_290-1862insGTGTATATATAT	AIDA	ENSG00000186063.13	transcript	ENST00000340020.11	protein_coding	4/9			chr1	TogoVar
AIDA_chr1_222663013_222717491	222689520	T T	TATATATA others(5): Show TATATATATATAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01070.hp1 HG02738.hp2 others(3): Show HG00673.hp2 HG01070.hp1 HG02738.hp2 HG04204.hp2 NA18947.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0156 a0001c0001t0002g0157 others(3): Show a0001c0001t0002g0143 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0164 a0001c0001t0002g0168 a0001c0001t0002g0169	6	368	0.0163	12	c.290 others(29): Show c.290-1863_290-1862insGTATATATATAT	AIDA	ENSG00000186063.13	transcript	ENST00000340020.11	protein_coding	4/9			chr1	TogoVar
AIDA_chr1_222663013_222717491	222713771	A A	ATTAGCTC others(5): Show ATTAGCTCTAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02602.hp1 HG03942.hp2 others(1): Show HG00438.hp2 HG02602.hp1 HG03942.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 others(1): Show a0001c0001t0001g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304	4	368	0.0109	12	c.-14 others(23): Show c.-1455_-1454insACTTAGAGCTAA	AIDA	ENSG00000186063.13	transcript	ENST00000340020.11	protein_coding		1281		chr1	TogoVar
AIF1L_chr9_131091531_131128144	131123940	A A	ATATGTGT others(5): Show ATATGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG03490.hp2 HG03927.hp1 HG02735.hp2 HG03490.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0172 a0001c0001t0002g0258 a0001c0001t0011g0103 a0001c0001t0002g0172 a0001c0001t0002g0258 a0001c0001t0011g0103	3	424	0.0071	12	c.36 others(23): Show c.3618_*3619insTATGTGTGTGTG	AIF1L	ENSG00000126878.13	transcript	ENST00000247291.8	protein_coding		797		chr9	TogoVar
AIFM1_chrX_130124362_130170841	130146451	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0132 a0001c0003t0001g0132	1	262	0.0038	12	c.606 others(27): Show c.606-894_606-883dupCACACACACACA	AIFM1	ENSG00000156709.15	transcript	ENST00000287295.8	protein_coding	5/15			chrX	TogoVar
AIFM1_chrX_130124362_130170841	130150977	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp1 others(53): Show HG00140.hp1 HG00323.hp2 HG00597.hp1 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01346.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02257.hp1 HG02280.hp2 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03831.hp2 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18964.hp1 NA18977.hp1 NA18999.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0007 a0001c0002 a0006c0007	a0001c0002t0001 a0006c0007t0001 a0001c0002t0001 a0006c0007t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0007 others(48): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0029 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0006c0007t0001g0036	56	262	0.2137	12	c.250 others(29): Show c.250-1421_250-1410dupTTTTTTTTTTTT	AIFM1	ENSG00000156709.15	transcript	ENST00000287295.8	protein_coding	2/15			chrX	TogoVar
AIFM1_chrX_130124362_130170841	130160883	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0024 a0001c0003t0001g0024	1	262	0.0038	12	c.107 others(29): Show c.107-4292_107-4281dupATTTATTTATTT	AIFM1	ENSG00000156709.15	transcript	ENST00000287295.8	protein_coding	1/15			chrX	TogoVar
AIFM2_chr10_70107271_70137825	70126017	A A	AGACAGAG others(5): Show AGACAGAGGAGGG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0189 a0002c0004t0001g0189	1	468	0.0021	12	c.-13 others(29): Show c.-13-1932_-13-1921dupCCCTCCTCTGTC	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding	1/8			chr10	TogoVar
AIFM2_chr10_70107271_70137825	70131863	A A	AGGTGCAT others(5): Show AGGTGCATGCACG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0037 a0003c0003t0037	a0003c0003t0037g0055 a0003c0003t0037g0055	1	468	0.0021	12	c.-14 others(27): Show c.-14+859_-14+870dupCGTGCATGCACC	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding	1/8			chr10	TogoVar
AIFM2_chr10_70107271_70137825	70132764	G G	GGCTCCCG others(5): Show GGCTCCCGCTCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01243.hp1 HG02615.hp1 HG02630.hp1 others(12): Show HG01243.hp1 HG02615.hp1 HG02630.hp1 HG02723.hp1 HG02809.hp2 HG02965.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03579.hp2 NA18940.hp2 NA18944.hp2 NA18948.hp2 NA19005.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0009 a0002c0007	a0001c0001t0011 a0001c0001t0028 a0001c0002t0054 others(4): Show a0001c0001t0011 a0001c0001t0028 a0001c0002t0054 a0001c0005t0011 a0001c0006t0029 a0001c0009t0019 a0002c0007t0053	a0001c0001t0011g0044 a0001c0001t0011g0364 a0001c0001t0011g0365 others(9): Show a0001c0001t0011g0044 a0001c0001t0011g0364 a0001c0001t0011g0365 a0001c0001t0028g0046 a0001c0002t0054g0367 a0001c0005t0011g0366 a0001c0005t0011g0370 a0001c0006t0029g0368 a0001c0006t0029g0369 a0001c0009t0019g0045 a0001c0009t0019g0372 a0002c0007t0053g0371	15	468	0.0321	12	c.-56 others(19): Show c.-56_-45dupGGGAGCGGGAGC	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding	1/9	8681		chr10	TogoVar
AIFM2_chr10_70107271_70137825	70136527	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01099.hp1 HG01516.hp1 others(5): Show HG00741.hp1 HG01099.hp1 HG01516.hp1 HG02630.hp1 HG02965.hp2 HG03579.hp2 NA18991.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 others(1): Show a0001c0001 a0001c0006 a0002c0004 a0002c0011	a0001c0001t0002 a0001c0001t0011 a0001c0001t0028 others(4): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0028 a0001c0001t0043 a0001c0006t0006 a0002c0004t0001 a0002c0011t0002	a0001c0001t0002g0014 a0001c0001t0011g0364 a0001c0001t0011g0365 others(5): Show a0001c0001t0002g0014 a0001c0001t0011g0364 a0001c0001t0011g0365 a0001c0001t0028g0046 a0001c0001t0043g0257 a0001c0006t0006g0081 a0002c0004t0001g0263 a0002c0011t0002g0322	8	468	0.0171	12	c.-38 others(23): Show c.-3808_-3807insCACACACACACA	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding		3703		chr10	TogoVar
AIG1_chr6_143055889_143346058	143060781	G G	GCCCCGCC others(5): Show GCCCCGCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0068 a0001c0002t0004g0068	1	204	0.0049	12	c.-14 others(21): Show c.-145_-144insCCCCGCCCCCGC	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding		107		chr6	TogoVar
AIG1_chr6_143055889_143346058	143196350	A A	AACACACG others(5): Show AACACACGCACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0201 a0001c0001t0010g0201	1	204	0.0049	12	c.399 others(31): Show c.399+31173_399+31174insGCACACACACAC	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
AIMP1_chr4_106311550_106354456	106354214	T T	TACACACA others(5): Show TACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	384	0.0026	12	c.65 others(23): Show c.6522_*6523insACACACACACAC	AIMP1	ENSG00000164022.18	transcript	ENST00000672341.1	protein_coding		4759		chr4	TogoVar
AIMP2_chr7_6004272_6028834	6007087	C C	CATTATTA others(5): Show CATTATTATTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	442	0.0023	12	c.-22 others(23): Show c.-2277_-2276insATTATTATTATT	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding		2184		chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009968	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0046 a0002c0003t0001g0046	1	442	0.0023	12	c.135 others(27): Show c.135+471_135+472insTATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009970	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18522.hp2 NA18964.hp2 HG00423.hp2 NA18522.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356	3	442	0.0068	12	c.135 others(27): Show c.135+473_135+474insTATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009972	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18981.hp2 NA18983.hp2 others(3): Show NA18947.hp2 NA18981.hp2 NA18983.hp2 NA18986.hp2 NA19003.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0007 a0001c0001t0002g0348 a0001c0001t0002g0349	6	442	0.0136	12	c.135 others(27): Show c.135+475_135+476insTATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6018968	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp2 HG01515.hp2 others(11): Show HG00741.hp1 HG01081.hp2 HG01515.hp2 HG01517.hp2 HG02523.hp2 HG02630.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0007c0007	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0007c0007t0001	a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0057 others(10): Show a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0002t0001g0172 a0001c0002t0001g0194 a0001c0002t0001g0223 a0002c0003t0001g0044 a0002c0003t0001g0045 a0007c0007t0001g0020	14	442	0.0317	12	c.574 others(27): Show c.574+935_574+946dupCACACACACACA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIPL1_chr17_6418738_6440121	6423530	T T	TCAAAAAA others(5): Show TCAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0331 a0001c0001t0053g0331	1	454	0.0022	12	c.19 others(23): Show c.1929_*1930insTTTTTTTTTTTG	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding		207		chr17	TogoVar
AIPL1_chr17_6418738_6440121	6423531	C C	CAAAAAAA others(5): Show CAAAAAAAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 NA21309.hp2 HG03453.hp1 NA21309.hp2	a0005 a0006 a0005 a0006	a0005c0018 a0006c0014 a0005c0018 a0006c0014	a0005c0018t0064 a0006c0014t0015 a0005c0018t0064 a0006c0014t0015	a0005c0018t0064g0049 a0006c0014t0015g0346 a0005c0018t0064g0049 a0006c0014t0015g0346	2	454	0.0044	12	c.19 others(23): Show c.1928_*1929insTGTTTTTTTTTT	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding		206		chr17	TogoVar
AIPL1_chr17_6418738_6440121	6433586	A A	ATCTCTCT others(5): Show ATCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0031 a0001c0004t0031	a0001c0004t0031g0252 a0001c0004t0031g0252	1	454	0.0022	12	c.276 others(27): Show c.276+321_276+332dupGAGAGAGAGAGA	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	2/5			chr17	TogoVar
AIPL1_chr17_6418738_6440121	6433611	T T	TCTCTCTC others(5): Show TCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0173 a0001c0004t0011g0173	1	454	0.0022	12	c.276 others(27): Show c.276+307_276+308insTGAGAGAGAGAG	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	2/5			chr17	TogoVar
AIPL1_chr17_6418738_6440121	6436936	G G	GGAAGAAG others(5): Show GGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0191 a0001c0002t0012g0191	1	454	0.0022	12	c.-18 others(23): Show c.-1833_-1832insTTCTTCTTCTTC	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding		1816		chr17	TogoVar
AIRE_chr21_44280876_44303648	44303441	A A	AAAGACTT others(5): Show AAAGACTTGATCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG02572.hp2 others(16): Show HG01496.hp1 HG01884.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03942.hp1 HG06807.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0004 a0001c0005 others(7): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0014 a0001c0016 a0002c0021 a0002c0026 a0007c0039	a0001c0001t0001 a0001c0004t0003 a0001c0005t0001 others(9): Show a0001c0001t0001 a0001c0004t0003 a0001c0005t0001 a0001c0009t0001 a0001c0010t0001 a0001c0010t0003 a0001c0014t0001 a0001c0016t0001 a0001c0016t0004 a0002c0021t0006 a0002c0026t0006 a0007c0039t0008	a0001c0001t0001g0047 a0001c0001t0001g0159 a0001c0004t0003g0118 others(14): Show a0001c0001t0001g0047 a0001c0001t0001g0159 a0001c0004t0003g0118 a0001c0004t0003g0223 a0001c0005t0001g0048 a0001c0009t0001g0093 a0001c0010t0001g0232 a0001c0010t0003g0229 a0001c0014t0001g0219 a0001c0016t0001g0088 a0001c0016t0001g0106 a0001c0016t0004g0030 a0001c0016t0004g0031 a0001c0016t0004g0066 a0002c0021t0006g0037 a0002c0026t0006g0037 a0007c0039t0008g0192	19	426	0.0446	12	c.57 others(23): Show c.5714_*5715insAAGACTTGATCG	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding		4794		chr21	TogoVar
AJAP1_chr1_4649609_4797534	4651882	C C	CAATAATA others(5): Show CAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0158 a0001c0001t0158	a0001c0001t0158g0140 a0001c0001t0158g0140	1	334	0.0030	12	c.-35 others(23): Show c.-3544_-3543insAATAATAATAAT	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding		2726		chr1	TogoVar
AJAP1_chr1_4649609_4797534	4679808	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19011.hp2 HG03516.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0160 a0001c0001t0003 a0001c0002t0160	a0001c0001t0003g0304 a0001c0002t0160g0139 a0001c0001t0003g0304 a0001c0002t0160g0139	2	334	0.0060	12	c.29+ others(29): Show c.29+24387_29+24398dupGTGTGTGTGTGT	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
AJAP1_chr1_4649609_4797534	4716682	A A	AATGGTGG others(5): Show AATGGTGGTGATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00544.hp2 others(42): Show HG00140.hp2 HG00408.hp2 HG00544.hp2 HG00733.hp1 HG01516.hp2 HG01517.hp2 HG02015.hp1 HG02027.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02523.hp2 HG02602.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18943.hp1 NA18961.hp2 NA18970.hp1 NA18977.hp2 NA18994.hp2 NA18998.hp2 NA19005.hp2 NA19010.hp2 NA19043.hp1 NA19080.hp2 NA19083.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0017 a0002c0003 a0002c0004 a0002c0016 a0003c0009 a0003c0018 a0008c0015	a0001c0001t0045 a0001c0001t0061 a0001c0001t0151 others(35): Show a0001c0001t0045 a0001c0001t0061 a0001c0001t0151 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0002t0012 a0001c0002t0087 a0001c0002t0091 a0001c0002t0109 a0001c0002t0111 a0001c0002t0148 a0001c0002t0159 a0001c0002t0160 a0001c0002t0176 a0001c0005t0002 a0001c0005t0003 a0001c0005t0007 a0001c0005t0027 a0001c0005t0039 a0001c0005t0096 a0001c0005t0101 a0001c0005t0139 a0001c0005t0195 a0001c0005t0196 a0001c0008t0001 a0001c0008t0003 a0001c0008t0133 a0001c0008t0137 a0001c0008t0202 a0001c0017t0083 a0002c0003t0003 a0002c0004t0132 a0002c0016t0002 a0003c0009t0007 a0003c0009t0126 a0003c0018t0007 a0008c0015t0033	a0001c0001t0045g0174 a0001c0001t0061g0087 a0001c0001t0151g0064 others(42): Show a0001c0001t0045g0174 a0001c0001t0061g0087 a0001c0001t0151g0064 a0001c0002t0002g0286 a0001c0002t0003g0211 a0001c0002t0003g0297 a0001c0002t0011g0137 a0001c0002t0011g0184 a0001c0002t0011g0235 a0001c0002t0012g0171 a0001c0002t0087g0161 a0001c0002t0091g0022 a0001c0002t0109g0088 a0001c0002t0111g0207 a0001c0002t0148g0142 a0001c0002t0159g0027 a0001c0002t0160g0139 a0001c0002t0176g0008 a0001c0005t0002g0228 a0001c0005t0003g0144 a0001c0005t0003g0155 a0001c0005t0003g0289 a0001c0005t0007g0101 a0001c0005t0007g0245 a0001c0005t0027g0152 a0001c0005t0027g0153 a0001c0005t0039g0122 a0001c0005t0096g0214 a0001c0005t0101g0288 a0001c0005t0139g0107 a0001c0005t0195g0270 a0001c0005t0196g0320 a0001c0008t0001g0085 a0001c0008t0003g0281 a0001c0008t0133g0117 a0001c0008t0137g0250 a0001c0008t0202g0271 a0001c0017t0083g0284 a0002c0003t0003g0287 a0002c0004t0132g0089 a0002c0016t0002g0221 a0003c0009t0007g0119 a0003c0009t0126g0241 a0003c0018t0007g0091 a0008c0015t0033g0150	45	334	0.1347	12	c.829 others(29): Show c.829+3995_829+4006dupGATGGTGGTGAT	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
AJAP1_chr1_4649609_4797534	4790916	T T	TTTTTTGT others(5): Show TTTTTTGTTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG02486.hp1 HG02622.hp2 others(16): Show HG00735.hp2 HG02486.hp1 HG02622.hp2 HG02818.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03579.hp2 HG03669.hp1 HG06807.hp2 NA18522.hp1 NA18985.hp2 NA19030.hp1 NA19043.hp2 NA19083.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0007 a0005c0010	a0001c0001t0016 a0001c0001t0038 a0001c0001t0061 others(15): Show a0001c0001t0016 a0001c0001t0038 a0001c0001t0061 a0001c0001t0085 a0001c0001t0089 a0001c0001t0110 a0001c0002t0016 a0001c0002t0030 a0001c0002t0060 a0001c0002t0111 a0001c0002t0189 a0002c0003t0016 a0002c0003t0082 a0002c0003t0084 a0002c0004t0157 a0003c0007t0038 a0005c0010t0124 a0005c0010t0141	a0001c0001t0016g0134 a0001c0001t0038g0123 a0001c0001t0061g0087 others(16): Show a0001c0001t0016g0134 a0001c0001t0038g0123 a0001c0001t0061g0087 a0001c0001t0085g0173 a0001c0001t0089g0164 a0001c0001t0110g0317 a0001c0002t0016g0175 a0001c0002t0030g0086 a0001c0002t0030g0165 a0001c0002t0060g0156 a0001c0002t0111g0207 a0001c0002t0189g0253 a0002c0003t0016g0295 a0002c0003t0082g0146 a0002c0003t0084g0307 a0002c0004t0157g0069 a0003c0007t0038g0127 a0005c0010t0124g0133 a0005c0010t0141g0028	19	334	0.0569	12	c.84 others(23): Show c.8460_*8471dupTGTTTTTGTTTT	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	6/6	16458	INFO_REALIGN_3_PRIME	chr1	TogoVar
AK2_chr1_33002986_33041883	33020188	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	350	0.0029	12	c.425 others(29): Show c.425+1167_425+1178dupGTGTGTGTGTGT	AK2	ENSG00000004455.18	transcript	ENST00000672715.1	protein_coding	4/5			chr1	TogoVar
AK2_chr1_33002986_33041883	33020228	C C	CACACACA others(5): Show CACACACACACAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0231 a0001c0001t0009g0231	1	350	0.0029	12	c.425 others(29): Show c.425+1138_425+1139insTTGTGTGTGTGT	AK2	ENSG00000004455.18	transcript	ENST00000672715.1	protein_coding	4/5			chr1	TogoVar
AK2_chr1_33002986_33041883	33034449	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03471.hp2 NA19043.hp1 HG02818.hp2 HG03471.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0224 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0224 a0001c0001t0004g0237 a0001c0001t0004g0238	3	350	0.0086	12	c.93+ others(27): Show c.93+2275_93+2286dupGTGTGTGTGTGT	AK2	ENSG00000004455.18	transcript	ENST00000672715.1	protein_coding	1/5			chr1	TogoVar
AK3_chr9_4704556_4746202	4713947	C C	CGCCTACA others(5): Show CGCCTACACATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00597.hp1 others(81): Show HG00099.hp2 HG00323.hp2 HG00597.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02148.hp1 HG02165.hp1 HG02273.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18947.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18964.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18990.hp1 NA18994.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp1 NA19054.hp2 NA19057.hp1 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 others(9): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0023 a0001c0001t0026 a0001c0001t0036 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0074	a0001c0001t0003g0023 a0001c0001t0003g0030 a0001c0001t0003g0031 others(79): Show a0001c0001t0003g0023 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0062 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0080 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0003g0143 a0001c0001t0003g0149 a0001c0001t0003g0180 a0001c0001t0003g0202 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0234 a0001c0001t0003g0252 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0289 a0001c0001t0003g0299 a0001c0001t0003g0304 a0001c0001t0003g0314 a0001c0001t0003g0320 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0331 a0001c0001t0003g0375 a0001c0001t0003g0378 a0001c0001t0003g0389 a0001c0001t0003g0396 a0001c0001t0003g0416 a0001c0001t0003g0423 a0001c0001t0006g0012 a0001c0001t0006g0029 a0001c0001t0006g0032 a0001c0001t0006g0094 a0001c0001t0006g0126 a0001c0001t0006g0181 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0355 a0001c0001t0006g0377 a0001c0001t0006g0387 a0001c0001t0012g0097 a0001c0001t0012g0151 a0001c0001t0012g0188 a0001c0001t0012g0258 a0001c0001t0012g0333 a0001c0001t0012g0388 a0001c0001t0023g0054 a0001c0001t0023g0087 a0001c0001t0026g0006 a0001c0001t0036g0098 a0001c0001t0058g0415 a0001c0001t0059g0109 a0001c0001t0061g0120 a0001c0001t0063g0065 a0001c0001t0064g0017 a0001c0001t0074g0440	84	462	0.1818	12	c.564 others(27): Show c.564-852_564-851insATATGTGTAGGC	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4714109	T T	TATACACC others(5): Show TATACACCTACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00597.hp1 others(83): Show HG00099.hp2 HG00323.hp2 HG00597.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02148.hp1 HG02165.hp1 HG02273.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18947.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18964.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18990.hp1 NA18994.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19054.hp2 NA19057.hp1 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 others(10): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0023 a0001c0001t0026 a0001c0001t0036 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0074	a0001c0001t0003g0023 a0001c0001t0003g0030 a0001c0001t0003g0031 others(81): Show a0001c0001t0003g0023 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0062 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0080 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0003g0143 a0001c0001t0003g0149 a0001c0001t0003g0180 a0001c0001t0003g0202 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0234 a0001c0001t0003g0252 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0289 a0001c0001t0003g0299 a0001c0001t0003g0304 a0001c0001t0003g0314 a0001c0001t0003g0320 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0331 a0001c0001t0003g0353 a0001c0001t0003g0375 a0001c0001t0003g0378 a0001c0001t0003g0389 a0001c0001t0003g0396 a0001c0001t0003g0416 a0001c0001t0003g0423 a0001c0001t0006g0012 a0001c0001t0006g0029 a0001c0001t0006g0032 a0001c0001t0006g0094 a0001c0001t0006g0126 a0001c0001t0006g0181 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0355 a0001c0001t0006g0377 a0001c0001t0006g0387 a0001c0001t0012g0097 a0001c0001t0012g0151 a0001c0001t0012g0188 a0001c0001t0012g0258 a0001c0001t0012g0333 a0001c0001t0012g0388 a0001c0001t0023g0054 a0001c0001t0023g0087 a0001c0001t0026g0006 a0001c0001t0036g0098 a0001c0001t0058g0415 a0001c0001t0059g0109 a0001c0001t0061g0120 a0001c0001t0062g0354 a0001c0001t0063g0065 a0001c0001t0064g0017 a0001c0001t0074g0440	86	462	0.1862	12	c.564 others(29): Show c.564-1014_564-1013insGTGTAGGTGTAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4714125	T T	TATACACC others(5): Show TATACACCTACAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02257.hp1 HG02280.hp1 others(12): Show HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02818.hp1 HG03130.hp2 HG03139.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18944.hp1 NA18982.hp2 NA18985.hp2 NA18989.hp1 NA19076.hp2 NA19088.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0002 a0001c0001t0003 a0005c0004t0003 a0001c0001t0002 a0001c0001t0003 a0005c0004t0003	a0001c0001t0002g0064 a0001c0001t0003g0016 a0001c0001t0003g0048 others(12): Show a0001c0001t0002g0064 a0001c0001t0003g0016 a0001c0001t0003g0048 a0001c0001t0003g0090 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0152 a0001c0001t0003g0222 a0001c0001t0003g0251 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0356 a0005c0004t0003g0014	15	462	0.0325	12	c.564 others(29): Show c.564-1030_564-1029insGTGTAGGTGTAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)