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
CADM1_chr11_115164236_115509415	115306072	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01361.hp1 HG02486.hp1 others(4): Show HG00741.hp2 HG01361.hp1 HG02486.hp1 HG02970.hp2 HG03490.hp2 HG03704.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0001c0001t0041	a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0002g0163 others(4): Show a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0002g0163 a0001c0001t0008g0032 a0001c0001t0013g0112 a0001c0001t0017g0141 a0001c0001t0041g0140	7	164	0.0427	22	c.125 others(41): Show c.125-65674_125-65653dupTGTGTGTGTGTGTGTGTGTGTG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115308211	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0086 a0001c0001t0014g0086	1	164	0.0061	22	c.125 others(41): Show c.125-67792_125-67791insGTGTATATATATATATATATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115400661	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	164	0.0061	22	c.124 others(43): Show c.124+103588_124+103609dupTATATATATATATATATATATA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	84982702	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0097 a0001c0001t0020g0097	1	146	0.0069	22	c.61+ others(39): Show c.61+23046_61+23067dupTATATATATATATATATATATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85034790	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	146	0.0069	22	c.61+ others(39): Show c.61+75125_61+75146dupTTTTTTTTTTTTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85199370	T T	TATGAGAG others(15): Show TATGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0037 a0001c0001t0009g0037	1	146	0.0069	22	c.61+ others(41): Show c.61+239702_61+239703insATGAGAGAGAGAGAGAGAGAGA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9			chr3	TogoVar
CADM2_chr3_84953989_86079429	85199370	T T	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	146	0.0069	22	c.61+ others(41): Show c.61+239722_61+239723insGAGAGAGAGAGAGAGAGAGAGA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85199370	T T	TGTATGAG others(15): Show TGTATGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	146	0.0069	22	c.61+ others(41): Show c.61+239703_61+239704insTATGAGAGAGAGAGAGAGAGAG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85347610	A A	AATATATA others(15): Show AATATATATACATATATATAAAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03540.hp2 HG03209.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0100 a0001c0001t0008g0101 a0001c0001t0002g0100 a0001c0001t0008g0101	2	146	0.0137	22	c.62- others(41): Show c.62-378904_62-378883dupTACATATATATAAATATATATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85354618	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01516.hp2 HG02630.hp2 HG00140.hp2 HG01516.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0019 a0001c0001t0022g0081 a0001c0001t0022g0087 a0001c0001t0002g0019 a0001c0001t0022g0081 a0001c0001t0022g0087	3	146	0.0206	22	c.62- others(41): Show c.62-371900_62-371879dupGAGAGAGAGAGAGAGAGAGAGA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359637	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02683.hp2 HG03927.hp2 others(1): Show HG01361.hp2 HG02683.hp2 HG03927.hp2 NA18977.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0010 a0002c0005t0004 a0001c0001t0001 a0001c0001t0010 a0002c0005t0004	a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0010g0146 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0010g0146 a0002c0005t0004g0058	4	146	0.0274	22	c.62- others(41): Show c.62-366876_62-366855dupATATATATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0097 a0001c0001t0020g0097	1	146	0.0069	22	c.62- others(41): Show c.62-366855_62-366854insATATATATATATATATATTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0067 a0001c0001t0010g0067	1	146	0.0069	22	c.62- others(41): Show c.62-366855_62-366854insATATATATATATATTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85541773	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0139 a0001c0002t0046g0139	1	146	0.0069	22	c.62- others(41): Show c.62-184748_62-184747insATATATATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85543420	A A	ATGTGTGT others(15): Show ATGTGTGTGGGGGGGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0123 a0001c0001t0005g0123	1	146	0.0069	22	c.62- others(41): Show c.62-183094_62-183093insGGGGGGTGTGTGTGTGTGTGTG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85543420	A A	ATGTGTGT others(15): Show ATGTGTGTGGGGGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01884.hp2 HG02015.hp2 others(2): Show HG00621.hp1 HG01884.hp2 HG02015.hp2 HG02129.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0016 a0001c0001t0001g0108 a0001c0001t0003g0062 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0108 a0001c0001t0003g0062 a0001c0001t0004g0117 a0001c0001t0015g0076	5	146	0.0343	22	c.62- others(41): Show c.62-183094_62-183093insGGGGTGTGTGTGTGTGTGTGTG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85543420	A A	ATGTGTGT others(15): Show ATGTGTGTGGGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03239.hp2 HG01074.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0070 a0001c0001t0003g0113 a0001c0001t0001g0070 a0001c0001t0003g0113	2	146	0.0137	22	c.62- others(41): Show c.62-183094_62-183093insGGTGTGTGTGTGTGTGTGTGTG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85543425	T T	TGTGGGGG others(15): Show TGTGGGGGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0093 a0001c0001t0019g0130 a0001c0001t0019g0131 a0001c0001t0003g0093 a0001c0001t0019g0130 a0001c0001t0019g0131	3	146	0.0206	22	c.62- others(41): Show c.62-183094_62-183093insGGGGTGTGTGTGTGTGTGGGTG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85568473	C C	CTCTCTTT others(15): Show CTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03540.hp2 HG04199.hp1 others(1): Show HG03492.hp2 HG03540.hp2 HG04199.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0100 a0001c0001t0003g0050 a0001c0001t0004g0053 others(1): Show a0001c0001t0002g0100 a0001c0001t0003g0050 a0001c0001t0004g0053 a0001c0001t0004g0064	4	146	0.0274	22	c.62- others(41): Show c.62-158046_62-158045insCTTTCTTTCTTTCTTTCTTTCT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898937	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18977.hp1 HG01261.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0125 a0001c0001t0010g0146 a0001c0001t0001g0125 a0001c0001t0010g0146	2	146	0.0137	22	c.529 others(41): Show c.529+12629_529+12630insATATATATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898955	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0107 a0001c0001t0050g0107	1	146	0.0069	22	c.529 others(41): Show c.529+12629_529+12630insATATATATATATATATATTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898955	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0139 a0001c0002t0046g0139	1	146	0.0069	22	c.529 others(41): Show c.529+12629_529+12630insATATATATATATATATTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898955	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0051 a0001c0002t0016g0051	1	146	0.0069	22	c.529 others(41): Show c.529+12629_529+12630insATATATATATATTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	86066332	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0096 a0001c0002t0048g0096	1	146	0.0069	22	c.109 others(39): Show c.1097-328_1097-307dupAAAAAAAAAAAAAAAAAAAAAA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122351372	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01175.hp1 HG03239.hp1 HG01069.hp2 HG01175.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0001g0105 a0001c0001t0002g0028 a0001c0001t0001g0014 a0001c0001t0001g0105 a0001c0001t0002g0028	3	126	0.0238	22	c.350 others(41): Show c.3505-5713_3505-5692dupTTTTTTTTTTTTTTTTTTTTTT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	27/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122527617	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG00280.hp1 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0047 a0001c0001t0002g0050	2	126	0.0159	22	c.147 others(43): Show c.1476-14303_1476-14302insACACACACTCTCTCTCTCTCTC	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	8/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122645488	G G	GTATATTT others(15): Show GTATATTTAAGTATATATATACT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01255.hp2 HG01975.hp1 HG01192.hp2 HG01255.hp2 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0002t0002 a0001c0004t0002	a0001c0002t0002g0016 a0001c0004t0002g0013 a0001c0004t0002g0015 a0001c0002t0002g0016 a0001c0004t0002g0013 a0001c0004t0002g0015	3	126	0.0238	22	c.787 others(41): Show c.787-16161_787-16160insAGTATATATATACTTAAATATA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	3/29			chr7	TogoVar
CADPS_chr3_62393348_62880416	62731805	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19030.hp1 HG01934.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0137 a0001c0001t0001g0086 a0001c0001t0001g0137	2	160	0.0125	22	c.888 others(41): Show c.888+21614_888+21635dupTTTTTTTTTTTTTTTTTTTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	3/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62843492	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02970.hp1 HG03942.hp2 others(1): Show HG01074.hp1 HG02970.hp1 HG03942.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0030 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0003t0001g0016	4	160	0.0250	22	c.441 others(41): Show c.441+31075_441+31096dupACACACACACACACACACACAC	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	1/29			chr3	TogoVar
CAGE1_chr6_7321659_7394742	7343198	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	360	0.0028	22	c.237 others(41): Show c.2370-9109_2370-9108insCTTTTCTTTTCTTTTTTTTTTT	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	11/13			chr6	TogoVar
CAGE1_chr6_7321659_7394742	7358027	G G	GATAGATA others(15): Show GATAGATAGATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0341 a0001c0001t0002g0341	1	360	0.0028	22	c.219 others(41): Show c.2194-1899_2194-1898insATATATATATATATCTATCTAT	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	9/13			chr6	TogoVar
CAGE1_chr6_7321659_7394742	7358027	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18939.hp2 NA18994.hp2 others(1): Show HG00544.hp1 NA18939.hp2 NA18994.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0176 a0001c0001t0002g0268 a0001c0001t0002g0294 others(1): Show a0001c0001t0001g0176 a0001c0001t0002g0268 a0001c0001t0002g0294 a0001c0001t0002g0295	4	360	0.0111	22	c.219 others(41): Show c.2194-1920_2194-1899dupATATATATATATATATATATAT	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	9/13			chr6	TogoVar
CALB2_chr16_71353723_71395433	71356943	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 NA18959.hp2 HG03834.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0310 a0001c0001t0002g0192 a0001c0001t0002g0310	2	426	0.0047	22	c.-18 others(33): Show c.-1850_-1849insTTTTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding		1779		chr16	TogoVar
CALB2_chr16_71353723_71395433	71366022	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00621.hp1 others(20): Show HG00140.hp2 HG00438.hp2 HG00621.hp1 HG01123.hp1 HG01261.hp1 HG01433.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG02135.hp1 HG02148.hp2 HG02572.hp2 HG02683.hp1 HG02723.hp2 HG02818.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp2 NA18956.hp2 NA18997.hp1 NA19004.hp2 NA19012.hp2 NA19078.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0043 a0001c0001t0001g0097 a0001c0001t0001g0098 others(20): Show a0001c0001t0001g0043 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0002c0002t0002g0108	23	426	0.0540	22	c.95- others(37): Show c.95-6130_95-6129insTTTTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALB2_chr16_71353723_71395433	71366024	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03098.hp1 HG03516.hp2 HG02896.hp1 HG03098.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0022 a0001c0001t0003g0267 a0001c0001t0001g0022 a0001c0001t0003g0267	3	426	0.0070	22	c.95- others(37): Show c.95-6109_95-6108insTTTTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALCOCO2_chr17_48826035_48870245	48827159	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0018 a0003c0003t0001g0018	1	328	0.0031	22	c.-39 others(33): Show c.-3930_-3929insAAAAAAAAAAAAAAAAAAAAAA	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding		3875		chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02896.hp1 others(3): Show HG01069.hp2 HG01071.hp1 HG02896.hp1 HG03195.hp2 HG03209.hp1 NA19074.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0001t0006 a0003c0003t0004 others(1): Show a0001c0001t0002 a0001c0001t0006 a0003c0003t0004 a0004c0004t0005	a0001c0001t0002g0270 a0001c0001t0002g0320 a0001c0001t0006g0311 others(3): Show a0001c0001t0002g0270 a0001c0001t0002g0320 a0001c0001t0006g0311 a0003c0003t0004g0327 a0004c0004t0005g0099 a0004c0004t0005g0112	6	328	0.0183	22	c.912 others(39): Show c.912+1385_912+1386insATATATATATATATATATATTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG02132.hp2 others(7): Show HG00639.hp1 HG01074.hp1 HG02132.hp2 HG02486.hp2 HG03017.hp1 HG03704.hp1 HG03942.hp1 NA18977.hp2 NA19087.hp1 NA21309.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0003 a0004c0004t0005 others(2): Show a0003c0003t0001 a0004c0004t0003 a0004c0004t0005 a0004c0004t0012 a0004c0004t0016	a0003c0003t0001g0053 a0003c0003t0001g0250 a0004c0004t0003g0080 others(7): Show a0003c0003t0001g0053 a0003c0003t0001g0250 a0004c0004t0003g0080 a0004c0004t0003g0087 a0004c0004t0003g0089 a0004c0004t0003g0090 a0004c0004t0005g0101 a0004c0004t0012g0075 a0004c0004t0016g0091 a0004c0004t0016g0092	10	328	0.0305	22	c.912 others(39): Show c.912+1385_912+1386insATATATATATATATATATTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01255.hp2 HG01433.hp2 others(7): Show HG01192.hp1 HG01255.hp2 HG01433.hp2 HG02886.hp2 HG03195.hp1 HG03209.hp2 HG03540.hp2 HG04228.hp1 NA18972.hp1 NA19083.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 a0003c0003t0001 a0004c0004t0003 a0004c0004t0005 a0004c0004t0010	a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0232 others(7): Show a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0232 a0001c0001t0006g0303 a0002c0002t0001g0221 a0003c0003t0001g0045 a0004c0004t0003g0085 a0004c0004t0003g0094 a0004c0004t0005g0111 a0004c0004t0010g0079	10	328	0.0305	22	c.912 others(39): Show c.912+1385_912+1386insATATATATATATATATTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp2 others(8): Show HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01891.hp2 HG03098.hp1 HG03688.hp2 HG03834.hp2 NA18952.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0001t0014 a0002c0002t0001 others(5): Show a0001c0001t0002 a0001c0001t0014 a0002c0002t0001 a0002c0002t0017 a0002c0002t0018 a0003c0003t0001 a0003c0003t0008 a0004c0004t0011	a0001c0001t0002g0165 a0001c0001t0002g0267 a0001c0001t0014g0277 others(8): Show a0001c0001t0002g0165 a0001c0001t0002g0267 a0001c0001t0014g0277 a0002c0002t0001g0134 a0002c0002t0017g0308 a0002c0002t0018g0200 a0003c0003t0001g0040 a0003c0003t0001g0050 a0003c0003t0001g0061 a0003c0003t0008g0012 a0004c0004t0011g0109	11	328	0.0335	22	c.912 others(39): Show c.912+1385_912+1386insATATATATATATATTTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0114 a0004c0004t0005g0114	1	328	0.0031	22	c.912 others(39): Show c.912+1385_912+1386insATATATATATATTTTTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATGTAT others(15): Show ATATGTATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0136 a0003c0003t0004g0136	1	328	0.0031	22	c.912 others(39): Show c.912+1385_912+1386insATGTATATATATATATATTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48857497	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	328	0.0031	22	c.100 others(41): Show c.1008+1312_1008+1333dupTTTTTTTTTTTTTTTTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48861659	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02486.hp2 HG01069.hp2 HG01071.hp1 HG02486.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0099 a0004c0004t0005g0101 a0004c0004t0005g0112 a0004c0004t0005g0099 a0004c0004t0005g0101 a0004c0004t0005g0112	3	328	0.0092	22	c.114 others(39): Show c.1145-616_1145-615insATATATATATATATATATATAT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCRL_chr2_187336964_187453252	187366249	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0322 a0001c0001t0010g0322	1	344	0.0029	22	c.501 others(39): Show c.501-2748_501-2747insTTTTTTTTTTTTTTTTTTTTTT	CALCRL	ENSG00000064989.13	transcript	ENST00000392370.8	protein_coding	8/14			chr2	TogoVar
CALCR_chr7_93419486_93579724	93532838	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0217 a0001c0003t0002g0223 a0001c0003t0002g0229 a0001c0003t0002g0217 a0001c0003t0002g0223 a0001c0003t0002g0229	3	292	0.0103	22	c.-27 others(41): Show c.-27+41429_-27+41450dupTTTTTTTTTTTTTTTTTTTTTT	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CALCR_chr7_93419486_93579724	93554769	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG04199.hp1 HG00609.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0137 a0001c0001t0001g0156	2	292	0.0069	22	c.-27 others(41): Show c.-27+19498_-27+19519dupTATATATATATATATATATATA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CALCR_chr7_93419486_93579724	93568509	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18951.hp1 NA19000.hp2 others(1): Show HG00558.hp1 NA18951.hp1 NA19000.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0025	a0001c0001t0002g0132 a0001c0001t0006g0134 a0001c0001t0010g0131 others(1): Show a0001c0001t0002g0132 a0001c0001t0006g0134 a0001c0001t0010g0131 a0001c0001t0025g0133	4	292	0.0137	22	c.-27 others(39): Show c.-27+5758_-27+5779dupGAGAGAGAGAGAGAGAGAGAGA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CALD1_chr7_134774634_134975729	134958883	A A	ATATATAT others(15): Show ATATATATATATATATATTTAAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	262	0.0038	22	c.206 others(39): Show c.2061+610_2061+611insTTAACTATATATATATATATAT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CALM2_chr2_47155084_47181511	47167693	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18997.hp1 NA18986.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0243 a0001c0001t0001g0101 a0001c0001t0001g0243	2	432	0.0046	22	c.34+ others(37): Show c.34+3019_34+3040dupTTTTTTTTTTTTTTTTTTTTTT	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar

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