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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⚠️ 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
CCSAP_chr1_229316015_229348047	229337678	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18951.hp2 NA18955.hp2 others(2): Show NA18940.hp1 NA18951.hp2 NA18955.hp2 NA18999.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0227 a0001c0001t0003g0268 others(1): Show a0001c0001t0003g0027 a0001c0001t0003g0227 a0001c0001t0003g0268 a0001c0001t0003g0333	5	436	0.0115	20	c.367 others(37): Show c.367+4420_367+4421insATATATATTTTTTTTTTTTT	CCSAP	ENSG00000154429.11	transcript	ENST00000284617.7	protein_coding	2/3			chr1	TogoVar
CCSAP_chr1_229316015_229348047	229337678	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0267 a0001c0001t0003g0267	1	436	0.0023	20	c.367 others(37): Show c.367+4420_367+4421insATATATATATTTTTTTTTTT	CCSAP	ENSG00000154429.11	transcript	ENST00000284617.7	protein_coding	2/3			chr1	TogoVar
CCSAP_chr1_229316015_229348047	229341193	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03195.hp1 HG02486.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0028 a0002c0004t0001 a0001c0001t0028 a0002c0004t0001	a0001c0001t0028g0378 a0002c0004t0001g0042 a0001c0001t0028g0378 a0002c0004t0001g0042	2	436	0.0046	20	c.367 others(35): Show c.367+905_367+906insTTTTTTTTTTTTTTTTTTTT	CCSAP	ENSG00000154429.11	transcript	ENST00000284617.7	protein_coding	2/3			chr1	TogoVar
CCSAP_chr1_229316015_229348047	229345525	A A	AACACACA others(13): Show AACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0271 a0001c0001t0005g0271	1	436	0.0023	20	c.-26 others(31): Show c.-2663_-2662insGTGTGTGTGTGTGTGTGTGT	CCSAP	ENSG00000154429.11	transcript	ENST00000284617.7	protein_coding		2479		chr1	TogoVar
CCSER1_chr4_90122394_91610295	90276186	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	38	0.0263	20	c.-41 others(39): Show c.-41-32009_-41-31990dupTTTCTTTCTTTCTTTCTTTC	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90413981	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	38	0.0263	20	c.160 others(41): Show c.1603+13853_1603+13854insAATATATATATATATATATA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90413981	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0019 a0001c0001t0015g0019	1	38	0.0263	20	c.160 others(41): Show c.1603+13863_1603+13882dupATATATATATATATATATAT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90460324	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	38	0.0263	20	c.160 others(39): Show c.1604-7908_1604-7889dupAAAAAAAAAAAAAAAAAAAA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90551706	C C	CTCTATAT others(13): Show CTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	38	0.0263	20	c.172 others(41): Show c.1725-76318_1725-76317insCTATATATATATATATATAT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90551706	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	38	0.0263	20	c.172 others(41): Show c.1725-76318_1725-76317insCTCTCTCTCTCTATATATAT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90732027	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0037 a0001c0001t0009g0037	1	38	0.0263	20	c.201 others(39): Show c.2010+8051_2010+8070dupTCTCTCTCTCTCTCTCTCTC	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90732056	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	38	0.0263	20	c.201 others(39): Show c.2010+8070_2010+8071insTCTCTCTCTCTCTCACTCTC	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90900094	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0038 a0001c0001t0008g0038	1	38	0.0263	20	c.209 others(41): Show c.2095-23259_2095-23258insTTTTTTTTTTTTTTTTTTTT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90937480	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18906.hp2 HG03516.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0004 a0001c0003 a0004c0004	a0001c0003t0002 a0004c0004t0001 a0001c0003t0002 a0004c0004t0001	a0001c0003t0002g0026 a0004c0004t0001g0021 a0001c0003t0002g0026 a0004c0004t0001g0021	2	38	0.0526	20	c.217 others(41): Show c.2172+14037_2172+14056dupCACACACACACACACACACA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91296449	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0036 a0001c0001t0007g0036	1	38	0.0263	20	c.221 others(43): Show c.2217+210472_2217+210473insATATATATATATATATATAT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91296483	A A	ATATATAT others(13): Show ATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp1 HG02809.hp2 others(1): Show HG02258.hp1 HG02723.hp1 HG02809.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0002 a0002c0002t0003	a0001c0001t0001g0024 a0001c0001t0008g0038 a0001c0003t0002g0015 others(1): Show a0001c0001t0001g0024 a0001c0001t0008g0038 a0001c0003t0002g0015 a0002c0002t0003g0013	4	38	0.1053	20	c.221 others(43): Show c.2217+210492_2217+210493insATATATATATATTTATTTAT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91411491	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02886.hp2 HG02258.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0024 a0001c0001t0009g0037 a0001c0001t0001g0024 a0001c0001t0009g0037	2	38	0.0526	20	c.221 others(43): Show c.2218-187065_2218-187046dupTATATATATATATATATATA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER2_chr10_84323589_84523517	84483953	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18747.hp1 NA18969.hp1 HG02683.hp1 NA18747.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0014 a0002c0002t0005 a0002c0002t0014	a0002c0002t0005g0086 a0002c0002t0005g0091 a0002c0002t0014g0092 a0002c0002t0005g0086 a0002c0002t0005g0091 a0002c0002t0014g0092	3	370	0.0081	20	c.232 others(39): Show c.2325+6314_2325+6333dupTATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84506796	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01099.hp2 others(8): Show HG00099.hp2 HG00140.hp1 HG01099.hp2 HG01257.hp1 HG02280.hp1 HG02647.hp1 HG03579.hp1 HG03688.hp1 HG03831.hp2 HG04184.hp1 HG04228.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0006 a0008c0011 others(1): Show a0001c0001 a0001c0006 a0008c0011 a0009c0014	a0001c0001t0002 a0001c0001t0012 a0001c0006t0002 others(2): Show a0001c0001t0002 a0001c0001t0012 a0001c0006t0002 a0008c0011t0002 a0009c0014t0002	a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0207 others(8): Show a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0207 a0001c0001t0012g0342 a0001c0001t0012g0343 a0001c0001t0012g0344 a0001c0001t0012g0345 a0001c0001t0012g0351 a0001c0006t0002g0143 a0008c0011t0002g0199 a0009c0014t0002g0193	11	370	0.0297	20	c.232 others(39): Show c.2326-6640_2326-6621dupAAATAAATAAATAAATAAAT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCT7_chr2_73229308_73258005	73252324	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG02559.hp1 others(2): Show HG00140.hp2 HG00609.hp1 HG02559.hp1 HG03225.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0098 a0001c0001t0001g0149 a0001c0001t0001g0019 a0001c0001t0001g0098 a0001c0001t0001g0149	5	378	0.0132	20	c.141 others(37): Show c.1411-308_1411-289dupTATATATATATATATATATA	CCT7	ENSG00000135624.17	transcript	ENST00000258091.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCZ1B_chr7_6793937_6831275	6819237	A A	ATTTTCTC others(13): Show ATTTTCTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0028 a0001c0007t0007g0028	1	354	0.0028	20	c.698 others(35): Show c.698+528_698+529insAAAAAAAAAAAAAGAGAAAA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	7/14			chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6825640	A A	AAAACACA others(13): Show AAAACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0109 a0001c0009t0004g0109	1	354	0.0028	20	c.120 others(35): Show c.120+437_120+438insGTGTGTGTGTGTGTGTGTTT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	1/14			chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6825640	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0183 a0001c0001t0004g0183	1	354	0.0028	20	c.120 others(35): Show c.120+437_120+438insGTGTGTGTGTGTGTGTGTGT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	1/14			chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6825641	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01168.hp1 HG02132.hp1 others(23): Show HG00099.hp2 HG01168.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02559.hp2 HG02698.hp1 HG02717.hp2 HG03017.hp1 HG03130.hp2 HG03490.hp2 HG03492.hp1 HG03927.hp1 HG04199.hp1 HG06807.hp2 NA18944.hp2 NA18945.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18966.hp1 NA18992.hp1 NA19012.hp1 NA19086.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0003 others(1): Show a0001c0001 a0001c0007 a0002c0003 a0003c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0007t0007 a0002c0003t0003 a0003c0004t0011	a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 others(23): Show a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0009g0274 a0001c0001t0009g0282 a0001c0001t0014g0191 a0001c0007t0007g0027 a0002c0003t0003g0176 a0002c0003t0003g0177 a0003c0004t0011g0108	26	354	0.0735	20	c.120 others(35): Show c.120+417_120+436dupTGTGTGTGTGTGTGTGTGTG	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	1/14			chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6828278	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG03139.hp1 HG03225.hp1 others(2): Show HG01496.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp1 NA19086.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0003c0006t0003 a0001c0001t0002 a0003c0006t0003	a0001c0001t0002g0202 a0001c0001t0002g0255 a0001c0001t0002g0281 others(2): Show a0001c0001t0002g0202 a0001c0001t0002g0255 a0001c0001t0002g0281 a0003c0006t0003g0101 a0003c0006t0003g0102	5	354	0.0141	20	c.-20 others(31): Show c.-2082_-2081insTTTTTTTTTTTTTTTTTTTT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		2004		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6830651	T T	TTATATAT others(13): Show TTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0159 a0002c0003t0004g0159	1	354	0.0028	20	c.-44 others(31): Show c.-4455_-4454insTATATATATATATATATATA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4377		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6830651	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0184 a0001c0001t0004g0184	1	354	0.0028	20	c.-44 others(31): Show c.-4455_-4454insTATATATATATATATATAAA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4377		chr7	TogoVar
CD101_chr1_116996760_117041552	117029194	A A	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03041.hp1 HG01952.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0208 a0001c0003t0004g0180 a0001c0001t0001g0208 a0001c0003t0004g0180	2	426	0.0047	20	c.282 others(39): Show c.2824+3302_2824+3303insGAAAGAAGGAAAGAAAGAAA	CD101	ENSG00000134256.13	transcript	ENST00000682167.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CD109_chr6_73691203_73833313	73791190	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19057.hp1 NA19005.hp1 NA19057.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0002 a0001c0001t0001 a0005c0006t0002	a0001c0001t0001g0239 a0005c0006t0002g0098 a0001c0001t0001g0239 a0005c0006t0002g0098	2	362	0.0055	20	c.270 others(39): Show c.2702-1435_2702-1434insTATATATATATATATATACA	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	22/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD109_chr6_73691203_73833313	73791194	T T	TATATATA others(13): Show TATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01243.hp2 HG01346.hp1 others(8): Show HG00423.hp2 HG01243.hp2 HG01346.hp1 HG02258.hp2 HG02572.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03486.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0018 a0001 a0005 a0018	a0001c0001 a0001c0012 a0005c0006 others(1): Show a0001c0001 a0001c0012 a0005c0006 a0018c0033	a0001c0001t0001 a0001c0001t0011 a0001c0001t0030 others(4): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0030 a0001c0012t0003 a0005c0006t0002 a0005c0006t0004 a0018c0033t0001	a0001c0001t0001g0147 a0001c0001t0001g0186 a0001c0001t0001g0210 others(8): Show a0001c0001t0001g0147 a0001c0001t0001g0186 a0001c0001t0001g0210 a0001c0001t0011g0185 a0001c0001t0030g0080 a0001c0012t0003g0250 a0001c0012t0003g0305 a0001c0012t0003g0306 a0005c0006t0002g0282 a0005c0006t0004g0264 a0018c0033t0001g0328	11	362	0.0304	20	c.270 others(39): Show c.2702-1419_2702-1418insCACATACATATATATATATA	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	22/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD109_chr6_73691203_73833313	73802305	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0020 a0020	a0020c0034 a0020c0034	a0020c0034t0037 a0020c0034t0037	a0020c0034t0037g0139 a0020c0034t0037g0139	1	362	0.0028	20	c.287 others(37): Show c.2879-914_2879-913insATATATATATATATTTTTTT	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	23/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD163L1_chr12_7349960_7449153	7380293	G G	GTATACAC others(13): Show GTATACACATATACATACATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0332 a0004c0012t0002g0332	1	384	0.0026	20	c.205 others(37): Show c.2051-996_2051-995insTATGTATGTATATGTGTATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	8/19			chr12	TogoVar
CD163_chr12_7465811_7508777	7475097	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0145 a0001c0003t0001g0145	1	428	0.0023	20	c.32 others(37): Show c.32-3720_*32-3701dupTTTTTTTTTTTTTTTTTTTT	CD163	ENSG00000177575.13	transcript	ENST00000432237.3	protein_coding	16/16			chr12	TogoVar
CD180_chr5_67174613_67201799	67186848	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0035 a0001c0014t0035	a0001c0014t0035g0141 a0001c0014t0035g0141	1	408	0.0025	20	c.91- others(33): Show c.91-851_91-832dupCACACACACACACACACACA	CD180	ENSG00000134061.5	transcript	ENST00000256447.5	protein_coding	1/2			chr5	TogoVar
CD19_chr16_28926971_28944342	28929885	T T	TAGAGAGA others(13): Show TAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02300.hp1 HG02257.hp2 HG02300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0005 a0003c0004t0001 a0001c0001t0005 a0003c0004t0001	a0001c0001t0005g0007 a0003c0004t0001g0039 a0001c0001t0005g0007 a0003c0004t0001g0039	2	400	0.0050	20	c.-21 others(31): Show c.-2116_-2115insAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2085		chr16	TogoVar
CD19_chr16_28926971_28944342	28929889	T T	TAGAGAGA others(13): Show TAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	400	0.0025	20	c.-21 others(31): Show c.-2112_-2111insAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2081		chr16	TogoVar
CD19_chr16_28926971_28944342	28929891	T T	TAGAGAGA others(13): Show TAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02165.hp1 HG02055.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0007 a0001c0001t0001g0001 a0001c0001t0005g0007	2	400	0.0050	20	c.-21 others(31): Show c.-2110_-2109insAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2079		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TAGAGAGA others(13): Show TAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA21309.hp2 NA18979.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0002g0003 a0001c0001t0001g0009 a0001c0001t0002g0003	2	400	0.0050	20	c.-21 others(31): Show c.-2108_-2107insAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TATAGAGA others(13): Show TATAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG03710.hp1 NA18951.hp1 HG02572.hp2 HG03710.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0006 a0001c0001t0001 a0001c0009t0006	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0009t0006g0030 a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0009t0006g0030	3	400	0.0075	20	c.-21 others(31): Show c.-2108_-2107insATAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TATATATA others(13): Show TATATATATATAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	20	c.-21 others(31): Show c.-2108_-2107insATATATATATAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD200R1_chr3_112916205_112980103	112917554	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG02074.hp2 others(4): Show HG00423.hp2 HG00544.hp2 HG02074.hp2 NA18949.hp2 NA18970.hp1 NA18972.hp2 NA19058.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0006 a0001c0003t0003g0178 a0001c0003t0003g0181 a0001c0003t0003g0006 a0001c0003t0003g0178 a0001c0003t0003g0181	7	416	0.0168	20	c.61 others(31): Show c.6122_*6123insTTTTTTTTTTTTTTTTTTTT	CD200R1	ENSG00000163606.11	transcript	ENST00000308611.8	protein_coding		3650		chr3	TogoVar
CD200R1_chr3_112916205_112980103	112939867	A A	ACAAACAA others(13): Show ACAAACAAAAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03654.hp2 HG03669.hp2 others(2): Show HG02818.hp2 HG03654.hp2 HG03669.hp2 HG04115.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 others(2): Show a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0215	5	416	0.0120	20	c.136 others(37): Show c.136+7988_136+7989insGTTTGTTTGTTTTTTGTTTG	CD200R1	ENSG00000163606.11	transcript	ENST00000308611.8	protein_coding	2/7			chr3	TogoVar
CD209_chr19_7734993_7752534	7736445	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG01891.hp1 HG02145.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0002c0002t0023 a0001c0001t0013 a0002c0002t0023	a0001c0001t0013g0013 a0002c0002t0023g0033 a0001c0001t0013g0013 a0002c0002t0023g0033	2	454	0.0044	20	c.65 others(31): Show c.6593_*6594insGGAAGGAAGGAAGGAAGGAA	CD209	ENSG00000090659.18	transcript	ENST00000315599.12	protein_coding		3547		chr19	TogoVar
CD226_chr18_69848274_69952873	69851192	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG02040.hp2 HG03017.hp2 others(6): Show HG00738.hp2 HG02040.hp2 HG03017.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 NA18747.hp1 NA18945.hp2 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0009 a0002c0002t0013 a0002c0002t0036 others(6): Show a0002c0002t0009 a0002c0002t0013 a0002c0002t0036 a0002c0002t0037 a0002c0002t0075 a0002c0002t0107 a0002c0002t0109 a0002c0002t0111 a0002c0009t0140	a0002c0002t0009g0126 a0002c0002t0013g0060 a0002c0002t0036g0147 others(6): Show a0002c0002t0009g0126 a0002c0002t0013g0060 a0002c0002t0036g0147 a0002c0002t0037g0206 a0002c0002t0075g0062 a0002c0002t0107g0148 a0002c0002t0109g0118 a0002c0002t0111g0196 a0002c0009t0140g0242	9	256	0.0352	20	c.13 others(33): Show c.13102_*13121dupAAAAAAAAAAAAAAAAAAAA	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding		2081		chr18	TogoVar
CD226_chr18_69848274_69952873	69861554	G G	GTATATAT others(13): Show GTATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01255.hp2 others(10): Show HG00639.hp1 HG01074.hp2 HG01255.hp2 HG02300.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03516.hp2 HG04199.hp2 NA18906.hp2 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0028 a0002c0002t0029 others(4): Show a0002c0002t0014 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0039 a0002c0002t0108 a0002c0002t0119	a0002c0002t0014g0020 a0002c0002t0014g0059 a0002c0002t0014g0065 others(10): Show a0002c0002t0014g0020 a0002c0002t0014g0059 a0002c0002t0014g0065 a0002c0002t0028g0032 a0002c0002t0028g0050 a0002c0002t0029g0040 a0002c0002t0029g0058 a0002c0002t0030g0053 a0002c0002t0030g0075 a0002c0002t0039g0156 a0002c0002t0039g0186 a0002c0002t0108g0182 a0002c0002t0119g0233	13	256	0.0508	20	c.27 others(31): Show c.2759_*2760insTATATATATATATATATATA	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	6/6	2759		chr18	TogoVar
CD226_chr18_69848274_69952873	69861554	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG02040.hp2 NA18940.hp1 HG00609.hp1 HG02040.hp2 NA18940.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0037 a0002c0002t0103 a0002c0002t0037 a0002c0002t0103	a0002c0002t0037g0115 a0002c0002t0037g0206 a0002c0002t0103g0146 a0002c0002t0037g0115 a0002c0002t0037g0206 a0002c0002t0103g0146	3	256	0.0117	20	c.27 others(31): Show c.2759_*2760insTATATATATATATATATACA	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	6/6	2759		chr18	TogoVar
CD226_chr18_69848274_69952873	69872057	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0150 a0002c0002t0010g0150	1	256	0.0039	20	c.830 others(37): Show c.830+1067_830+1086dupACACACACACACACACACAC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	4/5			chr18	TogoVar
CD226_chr18_69848274_69952873	69894416	A A	AAGGGAGG others(13): Show AAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18522.hp2 HG02451.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0055 a0002c0002t0070 a0001c0001t0055 a0002c0002t0070	a0001c0001t0055g0009 a0002c0002t0070g0035 a0001c0001t0055g0009 a0002c0002t0070g0035	2	256	0.0078	20	c.727 others(37): Show c.727+1284_727+1285insCCCTCCCTCCCTCCCTCCCT	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD226_chr18_69848274_69952873	69894420	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0066 a0001c0001t0026g0066	1	256	0.0039	20	c.727 others(37): Show c.727+1280_727+1281insCCCTCCCTTCCTTCCTTCCT	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD226_chr18_69848274_69952873	69894420	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02132.hp2 HG04204.hp2 others(2): Show HG00597.hp2 HG02132.hp2 HG04204.hp2 NA18962.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0145 a0001c0001t0001 a0001c0001t0031 a0001c0001t0145	a0001c0001t0001g0120 a0001c0001t0001g0172 a0001c0001t0031g0042 others(2): Show a0001c0001t0001g0120 a0001c0001t0001g0172 a0001c0001t0031g0042 a0001c0001t0031g0092 a0001c0001t0145g0254	5	256	0.0195	20	c.727 others(37): Show c.727+1280_727+1281insCCCTCCCTCCCTTCCTTCCT	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar

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