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 per page.

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
ITGAM_chr16_31254975_31337877	31270130	C C	CTTCCTCC others(22): Show CTTCCTCCTTTGCTTTCCTTTCCTTTCCTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG03041.hp2 HG02109.hp1 HG02647.hp2 HG03041.hp2	a0001 a0010 a0001 a0010	a0001c0005 a0010c0012 a0001c0005 a0010c0012	a0001c0005t0004 a0010c0012t0004 a0001c0005t0004 a0010c0012t0004	a0001c0005t0004g0149 a0001c0005t0004g0162 a0010c0012t0004g0164 a0001c0005t0004g0149 a0001c0005t0004g0162 a0010c0012t0004g0164	3	244	0.0123	29	c.428 others(44): Show c.428-823_428-822insTCCTCCTTTGCTTTCCTTTCCTTTCCTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGB2_chr21_44880953_44925899	44918931	G G	GGCTGAGC others(22): Show GGCTGAGCATCCCCTCTCCCAGCACTCGGA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18943.hp2 NA18612.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0396 a0001c0001t0001g0397 a0001c0001t0001g0396 a0001c0001t0001g0397	2	444	0.0045	29	c.-4+ others(44): Show c.-4+1889_-4+1890insTCCGAGTGCTGGGAGAGGGGATGCTCAGC	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15			chr21	TogoVar
ITGB2_chr21_44880953_44925899	44918935	A A	AAGCGTCC others(22): Show AAGCGTCCCCTCTCCCAGCACTCGGAGCTG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18962.hp2 NA18963.hp2 others(6): Show NA18747.hp2 NA18962.hp2 NA18963.hp2 NA18973.hp2 NA18975.hp2 NA18980.hp1 NA18987.hp2 NA19012.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0013t0003	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 others(6): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0003t0002g0059 a0001c0013t0003g0056	9	444	0.0203	29	c.-4+ others(44): Show c.-4+1857_-4+1885dupCAGCTCCGAGTGCTGGGAGAGGGGACGCT	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15			chr21	TogoVar
ITGB2_chr21_44880953_44925899	44918939	G G	ATCCCCTC others(22): Show ATCCCCTCTCCCAGCACTCGGAGCTGAGCG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0244 a0001c0009t0005g0244	1	444	0.0023	29	c.-4+ others(44): Show c.-4+1882_-4+1883insGCTCAGCTCCGAGTGCTGGGAGAGGGGAT	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15			chr21	TogoVar
ITGB2_chr21_44880953_44925899	44918939	G G	GTCCCCTC others(22): Show GTCCCCTCTCCCAGCACTCGGAGCTGAGCA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03490.hp1 HG03492.hp1 HG02602.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0184 a0001c0005t0002g0185 a0001c0005t0002g0186 a0001c0001t0002g0184 a0001c0005t0002g0185 a0001c0005t0002g0186	3	444	0.0068	29	c.-4+ others(44): Show c.-4+1881_-4+1882insTGCTCAGCTCCGAGTGCTGGGAGAGGGGA	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15			chr21	TogoVar
ITGB3_chr17_47248827_47318743	47300344	C C	CTGCGCGC others(22): Show CTGCGCGCGCGCGTGCGTGCATGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0230 a0001c0002t0009g0230	1	370	0.0027	29	c.191 others(46): Show c.1914-134_1914-133insTGCGCGCGCGCGTGCGTGCATGTGTGTG T	ITGB3	ENSG00000259207.10	transcript	ENST00000559488.7	protein_coding	11/14			chr17	TogoVar
ITGBL1_chr13_101447675_101721446	101689211	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG02559.hp1 others(4): Show HG01516.hp1 HG01517.hp2 HG02559.hp1 HG02698.hp1 HG03834.hp2 HG04184.hp1 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0002c0004 a0001c0003 a0001c0006 a0002c0004	a0001c0003t0001 a0001c0006t0001 a0002c0004t0001 a0001c0003t0001 a0001c0006t0001 a0002c0004t0001	a0001c0003t0001g0118 a0001c0003t0001g0123 a0001c0003t0001g0124 others(4): Show a0001c0003t0001g0118 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0156 a0001c0003t0001g0163 a0001c0006t0001g0003 a0002c0004t0001g0028	7	306	0.0229	29	c.101 others(48): Show c.1016-3352_1016-3351insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH5_chr10_7554270_7671966	7566764	A A	AGAGAGAA others(22): Show AGAGAGAAGGAGAAGGAGAAGGAGAAGGAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18947.hp2 NA18951.hp1 others(2): Show HG02015.hp1 NA18947.hp2 NA18951.hp1 NA18959.hp2 NA19083.hp2	a0003 a0009 a0003 a0009	a0003c0002 a0003c0005 a0009c0043 a0003c0002 a0003c0005 a0009c0043	a0003c0002t0001 a0003c0002t0046 a0003c0005t0001 others(2): Show a0003c0002t0001 a0003c0002t0046 a0003c0005t0001 a0003c0005t0050 a0009c0043t0001	a0003c0002t0001g0168 a0003c0002t0046g0272 a0003c0005t0001g0281 others(2): Show a0003c0002t0001g0168 a0003c0002t0046g0272 a0003c0005t0001g0281 a0003c0005t0050g0280 a0009c0043t0001g0180	5	342	0.0146	29	c.215 others(46): Show c.2150-358_2150-357insCTCCTTCTCCTTCTCCTTCTCCTTCTCT C	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7666982	C C	CCGCCCAC others(22): Show CCGCCCACCCCGCGGTCCCAGCCCGGACCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0261 a0001c0001t0042g0261	1	342	0.0029	29	c.-91 others(36): Show c.-91_-90insCGGTCCGGGCTGGGACCGCGGGGTGGGCG	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding		17		chr10	TogoVar
ITIH5_chr10_7554270_7671966	7667068	C C	CCCGCCCA others(22): Show CCCGCCCACCCCGCGGTCCCCTCCTGGACT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0043 a0002c0003t0043	a0002c0003t0043g0020 a0002c0003t0043g0020	1	342	0.0029	29	c.-17 others(38): Show c.-177_-176insAGTCCAGGAGGGGACCGCGGGGTGGGCGG	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding		103		chr10	TogoVar
ITLN2_chr1_160940025_160959809	160942871	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0027 a0005c0004t0001g0027	1	480	0.0021	29	c.22 others(40): Show c.2268_*2269insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ITLN2	ENSG00000158764.7	transcript	ENST00000368029.4	protein_coding		2153		chr1	TogoVar
ITPR1_chr3_4488348_4852506	4743754	G G	GGAAGCAG others(22): Show GGAAGCAGAATGTTAATCCAAAGTTCCAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0035 a0001c0024t0002g0035	1	176	0.0057	29	c.554 others(48): Show c.5544+8404_5544+8405insCAGAATGTTAATCCAAAGTTCCAAAG AAG	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	44/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26666162	A A	ATAGATAG others(22): Show ATAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02055.hp1 HG02896.hp1 others(1): Show HG01496.hp1 HG02055.hp1 HG02896.hp1 HG03453.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0001c0035 others(1): Show a0001c0002 a0001c0003 a0001c0035 a0005c0036	a0001c0002t0036 a0001c0003t0014 a0001c0035t0027 others(1): Show a0001c0002t0036 a0001c0003t0014 a0001c0035t0027 a0005c0036t0015	a0001c0002t0036g0011 a0001c0003t0014g0038 a0001c0035t0027g0026 others(1): Show a0001c0002t0036g0011 a0001c0003t0014g0038 a0001c0035t0027g0026 a0005c0036t0015g0101	4	142	0.0282	29	c.141 others(46): Show c.1410-112_1410-111insATCTATCTATCTATCTATCTATCTATCT A	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	13/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26772415	T T	TATATATA others(22): Show TATATATATTATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0038 a0003c0038	a0003c0038t0009 a0003c0038t0009	a0003c0038t0009g0012 a0003c0038t0009g0012	1	142	0.0070	29	c.163 others(48): Show c.163+17741_163+17742insTATATATATATTATATATATAATATA TAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
JAG2_chr14_105135995_105173776	105160867	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAGGCCAGGCCAGGCTTTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	364	0.0028	29	c.418 others(46): Show c.418-3133_418-3105dupCAAAGCCTGGCCTGGCCTTTTTTTTTTT T	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar
JAK2_chr9_4980272_5134948	5062500	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0059 a0001c0003t0004g0059	1	364	0.0028	29	c.105 others(48): Show c.1057-2380_1057-2352dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAKMIP1_chr4_6021199_6205549	6126371	G G	GCACAAAC others(22): Show GCACAAACACACACCATGCAGAAACACTCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(126): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18950.hp2 NA18964.hp1 NA18975.hp1 NA18979.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA19005.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19074.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0002 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0002c0004t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(126): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0004g0224 a0001c0001t0005g0002 a0001c0001t0006g0167 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0048 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0144 a0001c0002t0001g0150 a0001c0002t0001g0165 a0001c0002t0001g0179 a0001c0002t0001g0215 a0001c0003t0001g0005 a0001c0003t0001g0029 a0001c0003t0001g0056 a0001c0003t0001g0152 a0001c0005t0001g0169 a0001c0007t0001g0017 a0001c0008t0002g0230 a0001c0011t0001g0140 a0001c0012t0001g0060 a0001c0013t0001g0055 a0002c0004t0002g0232	129	233	0.5537	29	c.-14 others(50): Show c.-147-13375_-147-13374insTGAGTGTTTCTGCATGGTGTGTGT TTGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01257.hp2 HG01258.hp1 others(13): Show HG00408.hp1 HG01257.hp2 HG01258.hp1 HG01952.hp1 HG01993.hp1 HG02148.hp1 HG02148.hp2 NA18953.hp2 NA18963.hp2 NA18967.hp2 NA18988.hp1 NA19012.hp1 NA19057.hp2 NA19085.hp2 NA19088.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0002c0006 a0003c0014	a0001c0002t0005 a0001c0002t0008 a0001c0002t0019 others(7): Show a0001c0002t0005 a0001c0002t0008 a0001c0002t0019 a0001c0003t0014 a0001c0004t0003 a0001c0004t0006 a0001c0004t0022 a0001c0008t0078 a0002c0006t0003 a0003c0014t0008	a0001c0002t0005g0232 a0001c0002t0008g0205 a0001c0002t0008g0236 others(12): Show a0001c0002t0005g0232 a0001c0002t0008g0205 a0001c0002t0008g0236 a0001c0002t0008g0237 a0001c0002t0008g0238 a0001c0002t0019g0229 a0001c0003t0014g0248 a0001c0004t0003g0227 a0001c0004t0006g0019 a0001c0004t0006g0052 a0001c0004t0006g0068 a0001c0004t0022g0001 a0001c0008t0078g0195 a0002c0006t0003g0194 a0003c0014t0008g0206	16	250	0.0640	29	c.-14 others(50): Show c.-149+40300_-149+40301insAAAAATATATATATATATATATAT ATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19054.hp2 NA18983.hp2 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0089 a0002c0006t0087 a0001c0002t0089 a0002c0006t0087	a0001c0002t0089g0216 a0002c0006t0087g0226 a0001c0002t0089g0216 a0002c0006t0087g0226	2	250	0.0080	29	c.-14 others(50): Show c.-149+40300_-149+40301insAAAAAAATATATATATATATATAT ATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18993.hp2 NA18974.hp1 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0081 a0001c0008t0001 a0001c0002t0081 a0001c0008t0001	a0001c0002t0081g0212 a0001c0008t0001g0152 a0001c0002t0081g0212 a0001c0008t0001g0152	2	250	0.0080	29	c.-14 others(50): Show c.-149+40300_-149+40301insAAAAAAAAATATATATATATATAT ATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132158643	A A	AGATGCTG others(22): Show AGATGCTGTGGGAGGGGCATCTTCCTGTGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0008 a0002c0008t0003g0008	1	158	0.0063	29	c.222 others(48): Show c.2221-4308_2221-4280dupGTGTGATGCTGTGGGAGGGGCATCTT CCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132158698	G G	GTGTGATG others(22): Show GTGTGATGCTGTGGGAGGGGCATCTTCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01167.hp1 others(10): Show HG00280.hp1 HG00642.hp1 HG01167.hp1 HG01243.hp1 HG01255.hp2 HG02040.hp1 HG02451.hp2 HG02615.hp2 HG02717.hp1 HG03098.hp1 HG03654.hp1 HG03927.hp2 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0019 a0002c0004 others(5): Show a0001c0001 a0001c0019 a0002c0004 a0002c0029 a0004c0009 a0004c0024 a0004c0035 a0004c0043	a0001c0001t0002 a0001c0001t0005 a0001c0019t0015 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0019t0015 a0002c0004t0004 a0002c0029t0015 a0004c0009t0002 a0004c0024t0006 a0004c0035t0005 a0004c0043t0005	a0001c0001t0002g0105 a0001c0001t0005g0137 a0001c0019t0015g0085 others(10): Show a0001c0001t0002g0105 a0001c0001t0005g0137 a0001c0019t0015g0085 a0002c0004t0004g0038 a0002c0004t0004g0040 a0002c0004t0004g0042 a0002c0004t0004g0051 a0002c0004t0004g0141 a0002c0029t0015g0053 a0004c0009t0002g0059 a0004c0024t0006g0148 a0004c0035t0005g0020 a0004c0043t0005g0125	13	158	0.0823	29	c.222 others(48): Show c.2221-4483_2221-4482insTTGTGATGCTGTGGGAGGGGCATCTT CCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132158727	G G	GTGTGATG others(22): Show GTGTGATGCTGTGGGAGGGGCATCTTCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG03225.hp2 others(1): Show HG01891.hp1 HG02258.hp1 HG03225.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0019 a0001c0001 a0001c0017 a0001c0019	a0001c0001t0003 a0001c0017t0003 a0001c0019t0003 a0001c0001t0003 a0001c0017t0003 a0001c0019t0003	a0001c0001t0003g0102 a0001c0017t0003g0011 a0001c0017t0003g0104 others(1): Show a0001c0001t0003g0102 a0001c0017t0003g0011 a0001c0017t0003g0104 a0001c0019t0003g0081	4	158	0.0253	29	c.222 others(48): Show c.2221-4454_2221-4453insTTGTGATGCTGTGGGAGGGGCATCTT CCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132158872	G G	GTGTGATG others(22): Show GTGTGATGCTGTGGGAGGGGCATCTTCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(43): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01106.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01346.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02129.hp1 HG02165.hp1 HG02523.hp2 HG02897.hp1 HG03017.hp2 HG03225.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18952.hp2 NA18960.hp1 NA18966.hp2 NA18983.hp1 NA18999.hp2 NA19004.hp2 NA19081.hp1 NA19081.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0006 a0001c0013 others(19): Show a0001c0001 a0001c0006 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0001c0034 a0002c0005 a0002c0023 a0002c0026 a0002c0037 a0002c0047 a0003c0002 a0003c0003 a0003c0021 a0003c0051 a0004c0007 a0004c0011 a0004c0014 a0004c0027 a0004c0036 a0004c0045	a0001c0001t0001 a0001c0006t0025 a0001c0013t0001 others(22): Show a0001c0001t0001 a0001c0006t0025 a0001c0013t0001 a0001c0013t0016 a0001c0015t0001 a0001c0017t0027 a0001c0019t0001 a0001c0034t0001 a0002c0005t0001 a0002c0023t0001 a0002c0026t0001 a0002c0026t0026 a0002c0037t0001 a0002c0047t0022 a0003c0002t0001 a0003c0002t0020 a0003c0003t0001 a0003c0021t0001 a0003c0051t0001 a0004c0007t0001 a0004c0011t0001 a0004c0014t0001 a0004c0027t0001 a0004c0036t0001 a0004c0045t0001	a0001c0001t0001g0116 a0001c0006t0025g0153 a0001c0013t0001g0094 others(43): Show a0001c0001t0001g0116 a0001c0006t0025g0153 a0001c0013t0001g0094 a0001c0013t0001g0129 a0001c0013t0016g0155 a0001c0015t0001g0030 a0001c0017t0027g0012 a0001c0019t0001g0152 a0001c0034t0001g0021 a0002c0005t0001g0016 a0002c0005t0001g0049 a0002c0023t0001g0058 a0002c0026t0001g0106 a0002c0026t0026g0043 a0002c0037t0001g0139 a0002c0047t0022g0045 a0003c0002t0001g0001 a0003c0002t0001g0003 a0003c0002t0001g0013 a0003c0002t0001g0034 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0001g0123 a0003c0002t0020g0093 a0003c0003t0001g0064 a0003c0003t0001g0071 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0131 a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0021t0001g0032 a0003c0051t0001g0004 a0004c0007t0001g0108 a0004c0007t0001g0122 a0004c0011t0001g0118 a0004c0011t0001g0134 a0004c0011t0001g0135 a0004c0011t0001g0136 a0004c0014t0001g0041 a0004c0014t0001g0074 a0004c0027t0001g0066 a0004c0036t0001g0039 a0004c0045t0001g0090	46	158	0.2911	29	c.222 others(48): Show c.2221-4309_2221-4308insTTGTGATGCTGTGGGAGGGGCATCTT CCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159794	T T	TGCGGGGG others(22): Show TGCGGGGGGGTCTATTCCTGTGTCTTACTG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0016 a0001c0013t0016	a0001c0013t0016g0155 a0001c0013t0016g0155	1	158	0.0063	29	c.222 others(48): Show c.2221-3414_2221-3413insCGGGGGGGTCTATTCCTGTGTCTTAC TGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159819	T T	TGCGGGGG others(22): Show TGCGGGGGGGTCTATTCCTGTGTCTTACTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0002 a0004c0024t0002	a0004c0024t0002g0151 a0004c0024t0002g0151	1	158	0.0063	29	c.222 others(48): Show c.2221-3389_2221-3388insCGGGGGGGTCTATTCCTGTGTCTTAC TGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160917	C C	CAGGCGGT others(22): Show CAGGCGGTGGCCTCTTCCTGTGTGATGCTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0037 a0001c0032t0037	a0001c0032t0037g0124 a0001c0032t0037g0124	1	158	0.0063	29	c.222 others(48): Show c.2221-2292_2221-2291insAGGCGGTGGCCTCTTCCTGTGTGATG CTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0214 a0001c0001t0005g0214	1	328	0.0031	29	c.67+ others(46): Show c.67+20895_67+20896insATATATATATATATATATATATATATTT T	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0218 a0001c0001t0005g0218	1	328	0.0031	29	c.67+ others(46): Show c.67+20895_67+20896insATATATATATATATATATATATATTTTT T	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0238 a0001c0001t0005g0238	1	328	0.0031	29	c.67+ others(46): Show c.67+20895_67+20896insATATATATATATATATATATATTTTTTT T	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19063.hp2 HG00558.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0244 a0001c0001t0005g0261 a0001c0001t0001g0244 a0001c0001t0005g0261	2	328	0.0061	29	c.67+ others(46): Show c.67+20895_67+20896insATATATATATATATATTTTTTTTTTTTT T	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JARID2_chr6_15241069_15527042	15486806	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18944.hp1 NA20300.hp1 NA18747.hp2 NA18944.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0222 a0001c0002t0001g0281 a0001c0002t0001g0011 a0001c0002t0001g0222 a0001c0002t0001g0281	3	284	0.0106	29	c.671 others(44): Show c.671-483_671-482insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JMJD1C_chr10_63162225_63470977	63292144	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0029 a0010c0012t0001g0029	1	310	0.0032	29	c.334 others(48): Show c.334-27381_334-27380insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAGAAA others(22): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0241	1	310	0.0032	29	c.333 others(48): Show c.333+42693_333+42694insCTTTTCTTTTCTTTTCTTTTCTTTTC TTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	386	0.0026	29	c.65- others(44): Show c.65-1325_65-1324insATATATATATATATATATATATTTTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	386	0.0026	29	c.65- others(44): Show c.65-1325_65-1324insATATATATATATATATATTTTTTTTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMY_chr5_79231131_79332211	79270308	T T	TTAAAATG others(22): Show TTAAAATGTATATTTACATAAATATTTACA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03195.hp2 HG02615.hp2 HG03195.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0015 a0005c0007t0015	a0005c0007t0015g0188 a0005c0007t0015g0189 a0005c0007t0015g0188 a0005c0007t0015g0189	2	342	0.0059	29	c.103 others(48): Show c.1033-7596_1033-7595insGTATATTTACATAAATATTTACATAA AAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79270365	G G	GTATATTT others(22): Show GTATATTTACATAAATATTTACATAAAATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02165.hp2 NA19066.hp2 others(2): Show HG02080.hp1 HG02165.hp2 NA19066.hp2 NA19080.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0093 a0002c0002t0001g0094 others(2): Show a0002c0002t0001g0051 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0101	5	342	0.0146	29	c.103 others(48): Show c.1033-7524_1033-7496dupCATAAAATATATATTTACATAAATAT TTA	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JOSD2_chr19_50500998_50516191	50513457	G G	GGGGGACA others(22): Show GGGGGACAGAGACCCAGAGAGAGAGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	376	0.0027	29	c.-23 others(40): Show c.-2387_-2359dupACCTCCTCTCTCTCTGGGTCTCTGTCCCC	JOSD2	ENSG00000161677.12	transcript	ENST00000598418.6	protein_coding		2267		chr19	TogoVar
KALRN_chr3_124028369_124731325	124265298	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01168.hp2 HG01496.hp2 others(6): Show HG00323.hp1 HG01168.hp2 HG01496.hp2 HG02273.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp2 HG02723.hp1 NA20752.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0001c0004 a0001c0015 others(4): Show a0001c0002 a0001c0004 a0001c0015 a0001c0016 a0001c0058 a0002c0064 a0007c0052	a0001c0002t0002 a0001c0004t0001 a0001c0004t0004 others(5): Show a0001c0002t0002 a0001c0004t0001 a0001c0004t0004 a0001c0015t0001 a0001c0016t0025 a0001c0058t0001 a0002c0064t0034 a0007c0052t0008	a0001c0002t0002g0011 a0001c0004t0001g0111 a0001c0004t0004g0113 others(6): Show a0001c0002t0002g0011 a0001c0004t0001g0111 a0001c0004t0004g0113 a0001c0015t0001g0046 a0001c0015t0001g0097 a0001c0016t0025g0004 a0001c0058t0001g0016 a0002c0064t0034g0085 a0007c0052t0008g0075	9	116	0.0776	29	c.456 others(44): Show c.456+622_456+623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	4/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK1_chr9_499695_751103	504779	C C	CGCGCCCC others(22): Show CGCGCCCCGTGCCGCGCCCCGTGCCGCGCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02559.hp2 HG02896.hp1 others(2): Show HG01361.hp2 HG02559.hp2 HG02896.hp1 HG03139.hp2 NA19030.hp2	a0001 a0006 a0012 others(2): Show a0001 a0006 a0012 a0015 a0020	a0001c0001 a0006c0019 a0012c0009 others(2): Show a0001c0001 a0006c0019 a0012c0009 a0015c0021 a0020c0026	a0001c0001t0003 a0006c0019t0001 a0012c0009t0001 others(2): Show a0001c0001t0003 a0006c0019t0001 a0012c0009t0001 a0015c0021t0006 a0020c0026t0001	a0001c0001t0003g0006 a0006c0019t0001g0009 a0012c0009t0001g0008 others(2): Show a0001c0001t0003g0006 a0006c0019t0001g0009 a0012c0009t0001g0008 a0015c0021t0006g0005 a0020c0026t0001g0007	5	254	0.0197	29	c.-84 others(42): Show c.-84+40_-84+41insCCCCGTGCCGCGCTGCGCCCCGTGCCGCG	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	671623	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA19043.hp2 NA19240.hp2 HG01361.hp1 NA19043.hp2 NA19240.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0002 a0008c0006t0002	a0008c0006t0002g0071 a0008c0006t0002g0097 a0008c0006t0002g0245 a0008c0006t0002g0071 a0008c0006t0002g0097 a0008c0006t0002g0245	3	254	0.0118	29	c.-83 others(46): Show c.-83-5263_-83-5262insAAAAAAAAAAAAAAAAAAAAAGAAGAAA A	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANSL1_chr17_46024916_46198429	46045440	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0025 a0003c0004t0025	a0003c0004t0025g0321 a0003c0004t0025g0321	1	321	0.0031	29	c.202 others(48): Show c.2020+5092_2020+5093insATATATATATATATATTTTTTTTTTT TTT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	7/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19007.hp2 HG04204.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0177 a0001c0001t0002g0147 a0001c0001t0002g0177	2	321	0.0062	29	c.129 others(48): Show c.1290-1611_1290-1610insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL3_chr2_96588172_96643312	96615165	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	340	0.0029	29	c.664 others(46): Show c.664-1547_664-1546insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	KANSL3	ENSG00000114982.19	transcript	ENST00000431828.6	protein_coding	5/20			chr2	TogoVar
KASH5_chr19_49383249_49422990	49386790	G G	GGGGAAGG others(22): Show GGGGAAGGGAGGGGAAGGGAGGGGAAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0129	1	354	0.0028	29	c.-16 others(40): Show c.-1633_-1632insGGGAAGGGAGGGGAAGGGAGGGGAAGGGA	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding		1458		chr19	TogoVar
KASH5_chr19_49383249_49422990	49414674	C C	CCCCCCAG others(22): Show CCCCCCAGGCCCGTCCGTGCTGCCTAGCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp2 HG01167.hp2 others(19): Show HG00099.hp2 HG00673.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG02080.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02523.hp2 HG02630.hp1 HG02698.hp1 HG02809.hp2 HG03209.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG04184.hp2 NA18906.hp2 NA18957.hp2 NA18959.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0002g0008 a0001c0001t0002g0024 a0001c0001t0002g0207 others(16): Show a0001c0001t0002g0008 a0001c0001t0002g0024 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0001t0002g0243 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0266 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0283 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0006t0001g0071 a0001c0006t0001g0079	22	354	0.0622	29	c.132 others(46): Show c.1329-253_1329-252insAGCCTCCCCCAGGCCCGTCCGTGCTGCC T	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
KASH5_chr19_49383249_49422990	49414674	C C	CCCCCCAG others(22): Show CCCCCCAGGCCCGTCCGTGCTGCCTGGCCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03130.hp2 NA20300.hp2 HG02258.hp1 HG03130.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0007 a0002c0003t0004 a0001c0001t0002 a0001c0001t0007 a0002c0003t0004	a0001c0001t0002g0220 a0001c0001t0007g0157 a0002c0003t0004g0150 a0001c0001t0002g0220 a0001c0001t0007g0157 a0002c0003t0004g0150	3	354	0.0085	29	c.132 others(46): Show c.1329-131_1329-103dupCCCCCAGGCCCGTCCGTGCTGCCTGGCC T	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
KASH5_chr19_49383249_49422990	49414719	G G	GTGCTGCC others(22): Show GTGCTGCCTGGCCTCCCCCAGGCCCGTCCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0007 a0006c0017t0007	a0006c0017t0007g0164 a0006c0017t0007g0164	1	354	0.0028	29	c.132 others(46): Show c.1329-204_1329-203insATGCTGCCTGGCCTCCCCCAGGCCCGTC C	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
KAT2B_chr3_20035446_20159404	20062141	A A	AAAACATA others(22): Show AAAACATATTATATATTATATAAAACATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18992.hp2 NA18949.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0110 a0001c0001t0002g0058 a0001c0001t0002g0110	2	374	0.0054	29	c.304 others(48): Show c.304-10191_304-10190insAACATATTATATATTATATAAAACAT ATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar

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