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
CAMK4_chr5_111219384_111499886	111406194	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0027 a0001c0001t0011g0027	1	246	0.0041	16	c.459 others(35): Show c.459+11427_459+11442dupTCTCTCTCTCTCTCTC	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111459686	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0141 a0001c0001t0040g0141	1	246	0.0041	16	c.625 others(35): Show c.625+10494_625+10509dupTTTTTTTTTTTTTTTT	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111480249	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01071.hp2 HG01106.hp2 others(10): Show HG00099.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02698.hp1 HG02738.hp1 HG03139.hp2 HG03225.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 others(8): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035 a0001c0001t0039 a0001c0001t0049 a0001c0001t0131 a0001c0001t0168 a0003c0005t0157	a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0197 others(10): Show a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0197 a0001c0001t0007g0121 a0001c0001t0013g0226 a0001c0001t0027g0016 a0001c0001t0034g0145 a0001c0001t0035g0160 a0001c0001t0039g0231 a0001c0001t0049g0167 a0001c0001t0131g0034 a0001c0001t0168g0227 a0003c0005t0157g0041	13	246	0.0529	16	c.828 others(33): Show c.828+1767_828+1782dupACACACACACACACAC	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111480286	A A	ACACACAC others(9): Show ACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03453.hp2 HG02055.hp1 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0066 a0001c0004t0158 a0001c0004t0066 a0001c0004t0158	a0001c0004t0066g0193 a0001c0004t0158g0236 a0001c0004t0066g0193 a0001c0004t0158g0236	2	246	0.0081	16	c.828 others(33): Show c.828+1782_828+1783insACACACACACACCCAC	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111486542	C C	CACACACA others(9): Show CACACACACACACACAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0071 a0001c0001t0047g0071	1	246	0.0041	16	c.20 others(27): Show c.2076_*2077insACACACACACACACAT	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	11/11	2077		chr5	TogoVar
CAMKK2_chr12_121232692_121301709	121268083	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01069.hp2 others(19): Show HG00099.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01261.hp2 HG01346.hp1 HG01515.hp2 HG02257.hp2 HG02451.hp1 HG02717.hp2 HG02738.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03195.hp1 HG03540.hp2 NA18906.hp2 NA18963.hp2 NA19068.hp1 NA20129.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0007 a0001c0011 a0002c0002 others(4): Show a0001c0007 a0001c0011 a0002c0002 a0002c0004 a0004c0005 a0006c0028 a0007c0022	a0001c0007t0001 a0001c0011t0006 a0002c0002t0001 others(7): Show a0001c0007t0001 a0001c0011t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0012 a0002c0004t0007 a0004c0005t0001 a0004c0005t0002 a0006c0028t0002 a0007c0022t0002	a0001c0007t0001g0123 a0001c0007t0001g0264 a0001c0007t0001g0265 others(19): Show a0001c0007t0001g0123 a0001c0007t0001g0264 a0001c0007t0001g0265 a0001c0011t0006g0086 a0002c0002t0001g0097 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0153 a0002c0002t0001g0313 a0002c0002t0002g0022 a0002c0002t0012g0106 a0002c0002t0012g0305 a0002c0004t0007g0239 a0004c0005t0001g0016 a0004c0005t0001g0021 a0004c0005t0001g0308 a0004c0005t0002g0005 a0006c0028t0002g0023 a0007c0022t0002g0315	22	330	0.0667	16	c.625 others(31): Show c.625+539_625+554dupATATATATATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	5/16			chr12	TogoVar
CAMKMT_chr2_44356947_44777592	44497709	A A	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18942.hp1 NA18964.hp1 others(2): Show HG01975.hp1 NA18942.hp1 NA18964.hp1 NA19000.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0059 others(2): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0090 a0001c0001t0001g0145	5	198	0.0253	16	c.376 others(37): Show c.376+107423_376+107438dupAGAGAGAGAGAGAGAG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44497742	A A	AGAGAGAG others(9): Show AGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	198	0.0051	16	c.376 others(37): Show c.376+107438_376+107439insAGAGAGAGAGAGAGGG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44614936	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02965.hp1 others(1): Show HG02055.hp1 HG02109.hp1 HG02965.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0004 a0001c0001t0001g0100 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0100 a0001c0001t0001g0163 a0001c0001t0005g0005	4	198	0.0202	16	c.377 others(35): Show c.377-89338_377-89323dupTTTTTTTTTTTTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44666612	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	198	0.0051	16	c.377 others(35): Show c.377-37669_377-37654dupTTTTTTTTTTTTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44673471	G G	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02630.hp2 HG02922.hp1 others(5): Show HG02523.hp2 HG02630.hp2 HG02922.hp1 HG02965.hp2 NA18960.hp1 NA18960.hp2 NA18974.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0055 others(5): Show a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0001g0122 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0003g0169	8	198	0.0404	16	c.377 others(35): Show c.377-30775_377-30760dupAGGAAGGAAGGAAGGA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44725143	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	198	0.0051	16	c.623 others(33): Show c.623+9813_623+9828dupGTGTGTGTGTGTGTGT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMP_chr3_48218495_48230485	48225557	C C	CGTGTGAG others(9): Show CGTGTGAGTGTGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	346	0.0029	16	c.13 others(25): Show c.133_*134insGTGTGAGTGTGAGTGT	CAMP	ENSG00000164047.6	transcript	ENST00000652295.2	protein_coding		73		chr3	TogoVar
CAMSAP1_chr9_135803487_135912546	135892848	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp2 HG01109.hp1 others(16): Show HG00323.hp2 HG00609.hp2 HG01109.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG02280.hp2 HG02818.hp1 HG03098.hp1 HG03225.hp2 HG03704.hp2 HG03927.hp2 NA18612.hp2 NA18943.hp2 NA18950.hp1 NA19009.hp2	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0001 a0001c0007 a0001c0010 others(2): Show a0001c0001 a0001c0007 a0001c0010 a0005c0014 a0010c0019	a0001c0001t0001 a0001c0001t0018 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0001t0018 a0001c0007t0001 a0001c0010t0001 a0005c0014t0001 a0010c0019t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 others(16): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0254 a0001c0001t0001g0277 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0018g0050 a0001c0007t0001g0099 a0001c0007t0001g0135 a0001c0010t0001g0058 a0001c0010t0001g0059 a0005c0014t0001g0100 a0010c0019t0001g0271	19	340	0.0559	16	c.161 others(33): Show c.161-9786_161-9771dupTTTTTTTTTTTTTTTT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	1/16			chr9	TogoVar
CAMSAP3_chr19_7590863_7623304	7605147	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01346.hp2 HG01884.hp2 others(20): Show HG01070.hp1 HG01346.hp2 HG01884.hp2 HG01978.hp1 HG02040.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02451.hp1 HG03490.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp2 NA18947.hp2 NA18955.hp1 NA18983.hp1 NA19004.hp1 NA19066.hp2 NA19088.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0020 others(1): Show a0001c0001 a0001c0003 a0001c0020 a0002c0004	a0001c0001t0001 a0001c0001t0007 a0001c0003t0003 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0003 a0001c0020t0001 a0002c0004t0002	a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0100 others(20): Show a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0230 a0001c0001t0001g0238 a0001c0001t0001g0285 a0001c0001t0001g0295 a0001c0001t0001g0304 a0001c0001t0007g0015 a0001c0003t0003g0073 a0001c0020t0001g0153 a0002c0004t0002g0293	23	358	0.0643	16	c.149 others(29): Show c.149-64_149-49dupGTGTGTGTGTGTGTGT	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMSAP3_chr19_7590863_7623304	7614259	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG02965.hp2 HG00741.hp1 HG00741.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0200 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0200	3	358	0.0084	16	c.267 others(33): Show c.2671-915_2671-900dupAAAAAAAAAAAAAAAA	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMSAP3_chr19_7590863_7623304	7614936	T T	TCTCACTG others(9): Show TCTCACTGCTGGCACTC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	358	0.0028	16	c.267 others(33): Show c.2671-247_2671-246insCTCACTGCTGGCACTC	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	11/16			chr19	TogoVar
CAMTA1_chr1_6780454_7774706	7082440	A A	AATAGATA others(9): Show AATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19043.hp2 NA20300.hp1 HG03225.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0013 a0001c0002t0001 a0001c0001t0002 a0001c0001t0013 a0001c0002t0001	a0001c0001t0002g0046 a0001c0001t0013g0054 a0001c0002t0001g0020 a0001c0001t0002g0046 a0001c0001t0013g0054 a0001c0002t0001g0020	3	58	0.0517	16	c.235 others(33): Show c.235-8827_235-8812dupATAGATAGATAGATAG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7335124	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0024 a0001c0016t0024	a0001c0016t0024g0053 a0001c0016t0024g0053	1	58	0.0172	16	c.438 others(35): Show c.438+85499_438+85514dupTGTGTGTGTGTGTGTG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7340544	G G	GCCTCCCT others(9): Show GCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01243.hp2 HG02004.hp2 others(12): Show HG00558.hp1 HG01243.hp2 HG02004.hp2 HG02132.hp2 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02922.hp2 HG03130.hp2 NA19043.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0001c0015 a0002c0004 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0002t0004 a0001c0003t0023 a0001c0005t0005 a0001c0005t0009 a0001c0006t0001 a0001c0010t0004 a0001c0015t0006 a0002c0004t0017 a0002c0004t0018 a0008c0011t0016	a0001c0001t0001g0040 a0001c0001t0002g0001 a0001c0001t0003g0047 others(12): Show a0001c0001t0001g0040 a0001c0001t0002g0001 a0001c0001t0003g0047 a0001c0001t0004g0034 a0001c0001t0011g0058 a0001c0002t0004g0030 a0001c0003t0023g0045 a0001c0005t0005g0044 a0001c0005t0009g0050 a0001c0006t0001g0055 a0001c0010t0004g0031 a0001c0015t0006g0043 a0002c0004t0017g0042 a0002c0004t0018g0015 a0008c0011t0016g0029	15	58	0.2586	16	c.438 others(35): Show c.438+90921_438+90922insCCCTCCCTCCCTCCCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7391328	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03041.hp1 HG03486.hp2 others(2): Show HG02922.hp1 HG03041.hp1 HG03486.hp2 HG03579.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0010 a0001c0006t0005	a0001c0001t0002g0036 a0001c0001t0008g0003 a0001c0002t0001g0020 others(2): Show a0001c0001t0002g0036 a0001c0001t0008g0003 a0001c0002t0001g0020 a0001c0002t0010g0010 a0001c0006t0005g0057	5	58	0.0862	16	c.439 others(35): Show c.439-76487_439-76472dupGTGTGTGTGTGTGTGT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7542838	A A	AGTTTGTG others(9): Show AGTTTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	58	0.0172	16	c.510 others(35): Show c.510+74939_510+74940insTTGTGTGTGTGTGTGT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7579552	C C	CTTTCTTT others(9): Show CTTTCTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0006 a0001c0015t0006	a0001c0015t0006g0043 a0001c0015t0006g0043	1	58	0.0172	16	c.511 others(35): Show c.511-60845_511-60844insCTTTCTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7594200	G G	GGGAAGGA others(9): Show GGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02257.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0007 a0001c0002t0006g0008 a0001c0001t0001g0007 a0001c0002t0006g0008	2	58	0.0345	16	c.511 others(35): Show c.511-46174_511-46159dupGAAGGAAGGAAGGAAG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7688011	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18999.hp2 HG02622.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0013 a0001c0006t0001g0055 a0001c0001t0001g0013 a0001c0006t0001g0055	2	58	0.0345	16	c.291 others(37): Show c.2914+10280_2914+10295dupTTTTTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA2_chr17_4962997_4992675	4965826	G G	GTTTATTT others(9): Show GTTTATTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG01069.hp2 others(15): Show HG00609.hp1 HG00621.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp2 HG01192.hp1 HG01515.hp2 HG01517.hp1 HG02559.hp2 HG02886.hp1 NA18944.hp2 NA18952.hp1 NA18988.hp2 NA19002.hp1 NA19005.hp2 NA19079.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0010 a0014 a0001 a0010 a0014	a0001c0005 a0010c0021 a0014c0011 a0001c0005 a0010c0021 a0014c0011	a0001c0005t0001 a0010c0021t0001 a0014c0011t0001 a0001c0005t0001 a0010c0021t0001 a0014c0011t0001	a0001c0005t0001g0008 a0001c0005t0001g0010 a0001c0005t0001g0027 others(5): Show a0001c0005t0001g0008 a0001c0005t0001g0010 a0001c0005t0001g0027 a0001c0005t0001g0036 a0001c0005t0001g0105 a0001c0005t0001g0111 a0010c0021t0001g0112 a0014c0011t0001g0115	18	380	0.0474	16	c.29 others(27): Show c.2914_*2929dupTAAATAAATAAATAAA	CAMTA2	ENSG00000108509.21	transcript	ENST00000348066.8	protein_coding		2170		chr17	TogoVar
CAND2_chr3_12791680_12839803	12812221	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02559.hp2 HG02886.hp2 others(7): Show HG01106.hp2 HG02559.hp2 HG02886.hp2 HG02970.hp2 NA18946.hp1 NA18946.hp2 NA18969.hp1 NA18984.hp2 NA19072.hp2 NA20905.hp2	a0001 a0007 a0012 others(2): Show a0001 a0007 a0012 a0022 a0047	a0001c0005 a0007c0009 a0012c0014 others(2): Show a0001c0005 a0007c0009 a0012c0014 a0022c0027 a0047c0064	a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 others(5): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0007 a0007c0009t0001 a0012c0014t0001 a0022c0027t0001 a0047c0064t0001	a0001c0005t0001g0065 a0001c0005t0002g0211 a0001c0005t0002g0364 others(7): Show a0001c0005t0001g0065 a0001c0005t0002g0211 a0001c0005t0002g0364 a0001c0005t0003g0225 a0001c0005t0007g0224 a0007c0009t0001g0216 a0012c0014t0001g0033 a0012c0014t0001g0034 a0022c0027t0001g0020 a0047c0064t0001g0018	10	378	0.0265	16	c.758 others(31): Show c.758-765_758-750dupTTTTTTTTTTTTTTTT	CAND2	ENSG00000144712.13	transcript	ENST00000456430.6	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CANT1_chr17_78986716_79014764	79005216	A A	AGGGAGTT others(9): Show AGGGAGTTAGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0270 a0001c0002t0008g0270	1	394	0.0025	16	c.-14 others(35): Show c.-147+4432_-147+4447dupCCCCTCCCTAACTCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG01070.hp2 others(8): Show HG00280.hp2 HG00735.hp1 HG01070.hp2 HG01891.hp2 HG02258.hp1 HG02895.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0008t0006	a0001c0001t0001g0019 a0001c0001t0001g0124 a0001c0001t0001g0154 others(7): Show a0001c0001t0001g0019 a0001c0001t0001g0124 a0001c0001t0001g0154 a0001c0001t0001g0198 a0001c0001t0005g0231 a0001c0001t0007g0303 a0001c0001t0007g0304 a0001c0001t0007g0305 a0001c0001t0007g0320 a0001c0008t0006g0197	11	380	0.0290	16	c.721 others(31): Show c.721+643_721+658dupAAAAAAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAP1_chr1_40035729_40077648	40049178	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19007.hp2 NA19011.hp2 HG02738.hp1 NA19007.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0044 a0001c0001t0012g0191 a0001c0001t0003g0044 a0001c0001t0012g0191	3	378	0.0079	16	c.-11 others(33): Show c.-11+8388_-11+8403dupTTTTTTTTTTTTTTTT	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAP1_chr1_40035729_40077648	40062773	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0226 a0001c0002t0013g0226	1	378	0.0027	16	c.294 others(31): Show c.294+971_294+986dupGTGTGTGTGTGTGTGT	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAP2_chr6_17388595_17562780	17406398	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	206	0.0049	16	c.-2+ others(33): Show c.-2+12667_-2+12668insTTTTTTTTTTTTTTTT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17436067	A A	ATCTTTCT others(9): Show ATCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	206	0.0049	16	c.222 others(33): Show c.222+9384_222+9399dupTTTCTTTCTTTCTTTC	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17436078	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02886.hp1 HG01109.hp2 HG01891.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0202 a0001c0001t0002g0199 a0001c0001t0007g0201 a0001c0001t0001g0202 a0001c0001t0002g0199 a0001c0001t0007g0201	3	206	0.0146	16	c.222 others(33): Show c.222+9391_222+9392insCTTCCTTCCTTCCTTC	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17436082	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	206	0.0049	16	c.222 others(33): Show c.222+9395_222+9396insCTTCCTTCCTTCCTTC	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17436086	T T	TTTCTTTC others(9): Show TTTCTTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02630.hp1 HG03209.hp1 others(1): Show HG01167.hp1 HG02630.hp1 HG03209.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0006t0001	a0001c0001t0001g0041 a0001c0001t0002g0037 a0001c0002t0002g0129 others(1): Show a0001c0001t0001g0041 a0001c0001t0002g0037 a0001c0002t0002g0129 a0001c0006t0001g0017	4	206	0.0194	16	c.222 others(33): Show c.222+9399_222+9400insTTTCCTTCCTTCCTTC	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17461992	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01943.hp2 HG03239.hp2 others(2): Show HG00609.hp1 HG01943.hp2 HG03239.hp2 NA18999.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0165 a0001c0001t0002g0206 a0001c0002t0001g0093 others(2): Show a0001c0001t0001g0165 a0001c0001t0002g0206 a0001c0002t0001g0093 a0001c0002t0001g0161 a0001c0002t0001g0173	5	206	0.0243	16	c.223 others(31): Show c.223-988_223-973dupAAAAAAAAAAAAAAAA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17493330	A A	AAGATATG others(9): Show AAGATATGATAGAGATG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01975.hp1 HG02698.hp2 HG01168.hp2 HG01975.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0028 a0001c0001t0001g0142 a0001c0001t0001g0143	3	206	0.0146	16	c.301 others(35): Show c.301-13837_301-13822dupGATATGATAGAGATGA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17499848	C C	CATAAATA others(9): Show CATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0070 a0005c0015t0001g0070	1	206	0.0049	16	c.301 others(33): Show c.301-7303_301-7288dupTAAATAAATAAATAAA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17500340	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp2 HG02647.hp2 others(4): Show HG00741.hp2 HG01168.hp2 HG02647.hp2 HG02738.hp2 HG03209.hp2 HG04228.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0086 others(4): Show a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0086 a0001c0001t0001g0143 a0001c0001t0002g0010 a0001c0002t0001g0132 a0001c0002t0001g0190	7	206	0.0340	16	c.301 others(33): Show c.301-6800_301-6785dupATATATATATATATAT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPG_chr2_85389753_85415366	85408338	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01255.hp2 HG01975.hp1 others(1): Show HG00735.hp1 HG01255.hp2 HG01975.hp1 HG03491.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0001c0003 a0003c0006 others(1): Show a0001c0002 a0001c0003 a0003c0006 a0006c0009	a0001c0002t0001 a0001c0003t0001 a0003c0006t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0003c0006t0001 a0006c0009t0001	a0001c0002t0001g0232 a0001c0003t0001g0224 a0003c0006t0001g0081 others(1): Show a0001c0002t0001g0232 a0001c0003t0001g0224 a0003c0006t0001g0081 a0006c0009t0001g0231	4	410	0.0098	16	c.-14 others(33): Show c.-14+1963_-14+1978dupTGTGTGTGTGTGTGTG	CAPG	ENSG00000042493.16	transcript	ENST00000263867.9	protein_coding	1/9			chr2	TogoVar
CAPN11_chr6_44153820_44189401	44182042	C C	CACACTCA others(9): Show CACACTCACACACACAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03471.hp2 HG02486.hp2 HG03471.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0088 a0003c0003t0001g0376 a0003c0003t0001g0088 a0003c0003t0001g0376	2	460	0.0044	16	c.193 others(33): Show c.1938+726_1938+727insTCACACACACATACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACACAC others(9): Show ACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0428 a0008c0008t0002g0428	1	460	0.0022	16	c.193 others(33): Show c.1938+733_1938+734insCACACACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACACAC others(9): Show ACACACACATACACACT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19060.hp1 NA19063.hp2 others(1): Show NA18970.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0324 a0002c0002t0001g0341 a0002c0002t0001g0342 others(1): Show a0002c0002t0001g0324 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0365	4	460	0.0087	16	c.193 others(33): Show c.1938+733_1938+734insCACATACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38735549	A A	AAATTACA others(9): Show AAATTACAGATGGGAAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0168 a0001c0002t0002g0168	1	342	0.0029	16	c.158 others(30): Show c.1584-21_1584-6dupCTTCCCATCTGTAATT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735842	C C	CGGGGCGG others(9): Show CGGGGCGGGGGGTTCTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	342	0.0029	16	c.158 others(33): Show c.1583+267_1583+268insCAGAACCCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736923	A A	ACTCCCCT others(9): Show ACTCCCCTCCTCCCCTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0032 a0003c0005t0004g0032	1	342	0.0029	16	c.136 others(33): Show c.1362+232_1362+233insGAGGGGAGGAGGGGAG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	10/20			chr19	TogoVar
CAPN13_chr2_30717771_30812446	30768678	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01891.hp2 HG03486.hp1 HG00738.hp2 HG01891.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0148 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0001g0148 a0001c0001t0002g0230 a0001c0001t0002g0231	3	384	0.0078	16	c.524 others(33): Show c.524+1619_524+1634dupGGAAGGAAGGAAGGAA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	5/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30796222	A A	ATATGTAT others(9): Show ATATGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02486.hp2 others(2): Show HG02109.hp2 HG02145.hp2 HG02486.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0003g0345	5	384	0.0130	16	c.-32 others(33): Show c.-32-8866_-32-8865insCACATATATATACATA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30800116	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp2 others(14): Show HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00735.hp2 HG01169.hp1 HG01934.hp2 HG02004.hp1 HG02055.hp1 HG02976.hp2 HG03017.hp1 HG03486.hp1 HG04228.hp1 HG06807.hp2 NA18957.hp2 NA18979.hp1 NA18999.hp2 NA19009.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0002c0003t0001 a0003c0004t0002 a0005c0006t0004	a0001c0001t0001g0129 a0001c0001t0001g0246 a0001c0001t0001g0288 others(14): Show a0001c0001t0001g0129 a0001c0001t0001g0246 a0001c0001t0001g0288 a0001c0001t0001g0302 a0001c0001t0001g0373 a0001c0001t0002g0230 a0001c0001t0002g0293 a0001c0001t0002g0301 a0001c0001t0004g0124 a0001c0001t0004g0157 a0001c0001t0005g0158 a0001c0002t0001g0015 a0001c0002t0002g0069 a0001c0002t0005g0340 a0002c0003t0001g0159 a0003c0004t0002g0016 a0005c0006t0004g0151	17	384	0.0443	16	c.-33 others(33): Show c.-33+7170_-33+7185dupCTTTCTTTCTTTCTTT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar

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