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
CPM_chr12_68846175_68938171	68847452	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02630.hp1 HG02886.hp1	a0002 a0002	a0002c0005 a0002c0008 a0002c0005 a0002c0008	a0002c0005t0023 a0002c0008t0025 a0002c0005t0023 a0002c0008t0025	a0002c0005t0023g0011 a0002c0008t0025g0024 a0002c0005t0023g0011 a0002c0008t0025g0024	2	340	0.0059	13	c.89 others(24): Show c.8972_*8984dupAAAAAAAAAAAAA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3722		chr12	TogoVar
CPM_chr12_68846175_68938171	68931763	A A	AAAAAGAA others(6): Show AAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0057 a0002c0003t0057	a0002c0003t0057g0008 a0002c0003t0057g0008	1	340	0.0029	13	c.160 others(28): Show c.160+914_160+915insCTTTCTTTCTTTT	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding	2/8			chr12	TogoVar
CPNE1_chr20_35621044_35669900	35627187	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01433.hp1 HG04115.hp1 others(1): Show HG01175.hp1 HG01433.hp1 HG04115.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0107 others(1): Show a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0107 a0002c0002t0001g0108	4	272	0.0147	13	c.123 others(28): Show c.1236+80_1236+92dupTTTTTTTTTTTTT	CPNE1	ENSG00000214078.13	transcript	ENST00000397443.7	protein_coding	14/15			chr20	TogoVar
CPNE1_chr20_35621044_35669900	35633903	G G	GCACTCGG others(6): Show GCACTCGGCTCACT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00597.hp2 others(56): Show HG00099.hp2 HG00408.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG01433.hp1 HG01952.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02717.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03471.hp2 HG03490.hp2 HG03579.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18959.hp1 NA18964.hp2 NA18972.hp1 NA18979.hp1 NA18988.hp2 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19057.hp2 NA19058.hp2 NA19077.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0011 a0003c0003 others(1): Show a0002c0002 a0002c0011 a0003c0003 a0003c0013	a0002c0002t0001 a0002c0011t0001 a0003c0003t0001 others(1): Show a0002c0002t0001 a0002c0011t0001 a0003c0003t0001 a0003c0013t0001	a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0079 others(53): Show a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0011t0001g0078 a0003c0003t0001g0016 a0003c0003t0001g0069 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0013t0001g0070	59	272	0.2169	13	c.1-9 others(24): Show c.1-981_1-980insAGTGAGCCGAGTG	CPNE1	ENSG00000214078.13	transcript	ENST00000397443.7	protein_coding	1/15			chr20	TogoVar
CPNE2_chr16_57087583_57153369	57116852	G G	GAGGCCCC others(6): Show GAGGCCCCAGCGAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	362	0.0028	13	c.436 others(28): Show c.436-633_436-621dupGAAAGGCCCCAGC	CPNE2	ENSG00000140848.17	transcript	ENST00000290776.13	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE3_chr8_86509435_86566498	86522548	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0291 a0002c0005t0005g0291	1	340	0.0029	13	c.-10 others(30): Show c.-10-5971_-10-5959dupTTTTTTTTTTTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86527946	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG03209.hp2 others(3): Show HG02895.hp2 HG02896.hp2 HG03209.hp2 HG03471.hp1 NA18966.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0007 a0002c0003t0005 a0001c0001t0004 a0001c0001t0007 a0002c0003t0005	a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0238 others(3): Show a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0238 a0001c0001t0007g0134 a0001c0001t0007g0137 a0002c0003t0005g0145	6	340	0.0177	13	c.-10 others(28): Show c.-10-577_-10-565dupTTTTTTTTTTTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86552962	G G	GCACCCCC others(6): Show GCACCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	340	0.0029	13	c.112 others(32): Show c.1120+1729_1120+1730insACCCCCCCCCCCC	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86552962	G G	GCCCCCCC others(6): Show GCCCCCCCCACCCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02976.hp1 others(1): Show HG02895.hp1 HG02897.hp1 HG02976.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0222 a0001c0002t0001g0319 a0001c0002t0001g0322 others(1): Show a0001c0001t0001g0222 a0001c0002t0001g0319 a0001c0002t0001g0322 a0001c0002t0001g0323	4	340	0.0118	13	c.112 others(32): Show c.1120+1736_1120+1737insACCCCCCCCCCCC	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86552962	G G	GCCCCCCC others(6): Show GCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01358.hp1 HG02056.hp1 others(3): Show HG01255.hp1 HG01358.hp1 HG02056.hp1 HG03453.hp1 HG04184.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0002 a0001c0001t0001 a0001c0008t0002	a0001c0001t0001g0013 a0001c0001t0001g0113 a0001c0001t0001g0117 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0209 a0001c0008t0002g0297	6	340	0.0177	13	c.112 others(32): Show c.1120+1732_1120+1744dupCCCCCCCCCCCCC	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131596621	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02735.hp1 HG02647.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0043 a0001c0001t0013g0017 a0001c0001t0001g0043 a0001c0001t0013g0017	2	94	0.0213	13	c.682 others(30): Show c.682-9052_682-9040dupTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	7/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131717853	G G	GCTCCCTT others(6): Show GCTCCCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 NA18990.hp2 HG01884.hp2 HG02572.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0009 a0001c0004t0002 a0001c0005t0001 a0001c0001t0009 a0001c0004t0002 a0001c0005t0001	a0001c0001t0009g0067 a0001c0004t0002g0081 a0001c0005t0001g0012 a0001c0001t0009g0067 a0001c0004t0002g0081 a0001c0005t0001g0012	3	94	0.0319	13	c.360 others(30): Show c.360+5592_360+5593insGAAAGAAAGGGAG	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131801884	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03516.hp2 HG02647.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0011 a0001c0003t0001g0044 a0001c0001t0001g0011 a0001c0003t0001g0044	2	94	0.0213	13	c.181 others(32): Show c.181-78272_181-78260dupTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131848956	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03225.hp2 NA19030.hp2 HG02486.hp1 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0004t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0004t0001g0055	3	94	0.0319	13	c.180 others(32): Show c.180+56295_180+56307dupTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131960120	T T	TGGAGAGG others(6): Show TGGAGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01169.hp2 HG01496.hp1 others(46): Show HG01069.hp2 HG01169.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02735.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18962.hp2 NA18966.hp2 NA18982.hp1 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0001c0002t0014 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0005t0001 a0001c0006t0004	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027 others(46): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0005g0077 a0001c0001t0005g0084 a0001c0001t0008g0064 a0001c0001t0011g0093 a0001c0001t0013g0017 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0028 a0001c0002t0001g0031 a0001c0002t0002g0082 a0001c0002t0011g0094 a0001c0002t0014g0065 a0001c0003t0001g0005 a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0002g0071 a0001c0003t0002g0089 a0001c0003t0003g0062 a0001c0003t0010g0087 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0055 a0001c0004t0002g0081 a0001c0004t0010g0086 a0001c0005t0001g0012 a0001c0006t0004g0008	49	94	0.5213	13	c.-1- others(30): Show c.-1-54689_-1-54677dupTCCCTCCCTCTCC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131993472	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp1 HG02559.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0010 a0001c0001t0008 a0001c0003t0010	a0001c0001t0008g0066 a0001c0003t0010g0087 a0001c0001t0008g0066 a0001c0003t0010g0087	2	94	0.0213	13	c.-2+ others(30): Show c.-2+41082_-2+41094dupTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131999241	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02896.hp1 HG03209.hp1 others(3): Show HG02559.hp2 HG02896.hp1 HG03209.hp1 NA18939.hp1 NA18966.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0002t0014	a0001c0001t0001g0023 a0001c0001t0002g0090 a0001c0001t0008g0064 others(3): Show a0001c0001t0001g0023 a0001c0001t0002g0090 a0001c0001t0008g0064 a0001c0001t0008g0066 a0001c0001t0011g0093 a0001c0002t0014g0065	6	94	0.0638	13	c.-2+ others(30): Show c.-2+35313_-2+35325dupTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE5_chr6_36735775_36844444	36768225	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18906.hp2 NA18977.hp2 others(2): Show HG02630.hp1 NA18906.hp2 NA18977.hp2 NA18985.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0008t0006 a0001c0001t0001 a0001c0001t0003 a0001c0008t0006	a0001c0001t0001g0059 a0001c0001t0003g0008 a0001c0001t0003g0125 others(2): Show a0001c0001t0001g0059 a0001c0001t0003g0008 a0001c0001t0003g0125 a0001c0001t0003g0137 a0001c0008t0006g0073	5	380	0.0132	13	c.738 others(30): Show c.738-2862_738-2850dupAAAAAAAAAAAAA	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	10/20			chr6	TogoVar
CPNE5_chr6_36735775_36844444	36834254	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp2 NA19240.hp1 HG02723.hp2 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0003t0002 a0001c0001t0001 a0001c0001t0006 a0001c0003t0002	a0001c0001t0001g0187 a0001c0001t0006g0052 a0001c0003t0002g0188 a0001c0001t0001g0187 a0001c0001t0006g0052 a0001c0003t0002g0188	3	380	0.0079	13	c.95+ others(28): Show c.95+5016_95+5028dupTTTTTTTTTTTTT	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	1/20			chr6	TogoVar
CPNE7_chr16_89570758_89602246	89587849	C C	CCCCGTGT others(6): Show CCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19030.hp2 HG00642.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0013 a0001c0001t0001 a0001c0002t0013	a0001c0001t0001g0088 a0001c0002t0013g0194 a0001c0001t0001g0088 a0001c0002t0013g0194	2	348	0.0058	13	c.927 others(28): Show c.927+748_927+749insCCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38653617	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00642.hp1 others(41): Show HG00099.hp1 HG00140.hp2 HG00642.hp1 HG00735.hp1 HG01070.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01516.hp1 HG01891.hp1 HG01928.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02132.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02683.hp1 HG02895.hp2 HG02965.hp1 HG02976.hp2 HG03927.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp2 NA19054.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0014 a0001c0001t0027 others(2): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0027 a0001c0002t0004 a0001c0002t0028	a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0040 others(41): Show a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0004g0059 a0001c0001t0004g0113 a0001c0001t0004g0155 a0001c0001t0004g0243 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0275 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0291 a0001c0001t0004g0326 a0001c0001t0014g0051 a0001c0001t0014g0177 a0001c0001t0014g0203 a0001c0001t0027g0170 a0001c0002t0004g0036 a0001c0002t0004g0056 a0001c0002t0004g0060 a0001c0002t0004g0066 a0001c0002t0004g0297 a0001c0002t0028g0285	44	342	0.1287	13	c.26 others(22): Show c.264_*265insTTTTTTTTTTTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	20/20	264		chr12	TogoVar
CPNE8_chr12_38647203_38910591	38653620	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG03139.hp2 HG03471.hp2 HG02615.hp2 HG03139.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0227 a0001c0001t0012g0229 a0001c0001t0012g0231 a0001c0001t0012g0227 a0001c0001t0012g0229 a0001c0001t0012g0231	3	342	0.0088	13	c.26 others(22): Show c.261_*262insCTTTTTTTTTTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	20/20	261		chr12	TogoVar
CPNE8_chr12_38647203_38910591	38710268	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01934.hp2 NA19054.hp2 others(1): Show HG00733.hp1 HG01934.hp2 NA19054.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0240 a0001c0002t0002g0248 a0001c0002t0002g0289 others(1): Show a0001c0002t0002g0240 a0001c0002t0002g0248 a0001c0002t0002g0289 a0001c0002t0002g0292	4	342	0.0117	13	c.915 others(30): Show c.915-7360_915-7348dupTTTTTTTTTTTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38736234	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG01109.hp1 others(21): Show HG00408.hp2 HG00438.hp1 HG01109.hp1 HG01123.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG02132.hp1 HG02273.hp2 HG02698.hp2 HG03017.hp2 HG03239.hp1 HG03704.hp1 NA18957.hp1 NA18977.hp1 NA18978.hp2 NA19005.hp1 NA19009.hp2 NA19065.hp2 NA19066.hp1 NA19077.hp1 NA19085.hp2 NA19086.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0002 a0001c0002t0028 others(1): Show a0001c0001t0003 a0001c0002t0002 a0001c0002t0028 a0001c0003t0011	a0001c0001t0003g0016 a0001c0001t0003g0053 a0001c0001t0003g0054 others(21): Show a0001c0001t0003g0016 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0068 a0001c0001t0003g0184 a0001c0001t0003g0188 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0208 a0001c0001t0003g0213 a0001c0001t0003g0306 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0020 a0001c0002t0002g0070 a0001c0002t0002g0076 a0001c0002t0002g0246 a0001c0002t0028g0285 a0001c0003t0011g0001 a0001c0003t0011g0002 a0001c0003t0011g0003	24	342	0.0702	13	c.723 others(30): Show c.723-5877_723-5876insCACACACACACAC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38826995	C C	CCGTCTCT others(6): Show CCGTCTCTATATGA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0224 a0001c0001t0007g0224	1	342	0.0029	13	c.407 others(30): Show c.407+2383_407+2384insTCATATAGAGACG	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	6/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902376	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0156 a0001c0001t0009g0156	1	342	0.0029	13	c.98+ others(28): Show c.98+3060_98+3061insTCTTTCTTTCTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPPED1_chr16_12654799_12808887	12699157	T T	TCAGGTGA others(6): Show TCAGGTGAATAAAG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0002 a0001c0001t0031g0002	1	290	0.0035	13	c.715 others(30): Show c.715+5454_715+5466dupCTTTATTCACCTG	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	3/3			chr16	TogoVar
CPQ_chr8_96640242_97148501	96777761	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	126	0.0079	13	c.-34 others(30): Show c.-34-7103_-34-7102insATATATATATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7			chr8	TogoVar
CPQ_chr8_96640242_97148501	96787525	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02895.hp2 HG03927.hp2 HG02809.hp2 HG02895.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0001g0057 a0001c0001t0002g0011 a0001c0001t0001g0014 a0001c0001t0001g0057 a0001c0001t0002g0011	3	126	0.0238	13	c.433 others(30): Show c.433+2213_433+2225dupTTTTTTTTTTTTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96850584	T T	TTTTATTT others(6): Show TTTTATTTTATTTA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	126	0.0079	13	c.641 others(32): Show c.641+15411_641+15412insTATTTATTTATTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96922071	T T	TTTTTAAA others(6): Show TTTTTAAAATTGTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG03453.hp1 HG02647.hp1 HG02647.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0008t0001g0116 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0008t0001g0116	3	126	0.0238	13	c.849 others(32): Show c.849+42077_849+42089dupGTCTTTTAAAATT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF2_chr14_92116969_92177145	92165854	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00558.hp1 others(42): Show HG00140.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG01167.hp2 HG01168.hp2 HG01256.hp1 HG01346.hp1 HG01517.hp2 HG01975.hp1 HG01981.hp2 HG02080.hp1 HG02280.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02970.hp2 HG03195.hp2 HG03471.hp2 HG03834.hp2 HG04184.hp2 NA18939.hp1 NA18941.hp1 NA18945.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18982.hp2 NA18998.hp2 NA18999.hp2 NA19030.hp2 NA19074.hp2 NA19075.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0017 others(15): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0017 a0001c0001t0029 a0001c0001t0045 a0001c0001t0047 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0139 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0164 a0001c0001t0166 a0001c0001t0168	a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0015 others(40): Show a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0015 a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0004g0053 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0072 a0001c0001t0004g0077 a0001c0001t0004g0081 a0001c0001t0004g0085 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0104 a0001c0001t0004g0108 a0001c0001t0004g0138 a0001c0001t0016g0131 a0001c0001t0016g0132 a0001c0001t0016g0193 a0001c0001t0016g0198 a0001c0001t0017g0002 a0001c0001t0017g0007 a0001c0001t0017g0201 a0001c0001t0029g0135 a0001c0001t0029g0136 a0001c0001t0029g0140 a0001c0001t0045g0196 a0001c0001t0045g0197 a0001c0001t0047g0026 a0001c0001t0047g0092 a0001c0001t0128g0209 a0001c0001t0129g0215 a0001c0001t0130g0208 a0001c0001t0139g0082 a0001c0001t0143g0009 a0001c0001t0144g0065 a0001c0001t0145g0083 a0001c0001t0146g0056 a0001c0001t0147g0030 a0001c0001t0164g0144 a0001c0001t0166g0103 a0001c0001t0168g0087	45	388	0.1160	13	c.41 others(24): Show c.4123_*4135dupTTTTTTTTTTTTT	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding	16/16	4136	INFO_REALIGN_3_PRIME	chr14	TogoVar
CPSF2_chr14_92116969_92177145	92168248	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0142 a0001c0001t0142	a0001c0001t0142g0054 a0001c0001t0142g0054	1	388	0.0026	13	c.65 others(24): Show c.6510_*6522dupAAAAAAAAAAAAA	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding	16/16	6523	INFO_REALIGN_3_PRIME	chr14	TogoVar
CPSF3_chr2_9418654_9478101	9459638	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	230	0.0044	13	c.178 others(28): Show c.1786+36_1786+48dupTTTTTTTTTTTTT	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	364	0.0028	13	c.103 others(30): Show c.103+1490_103+1491insATATATATATTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	364	0.0028	13	c.103 others(30): Show c.103+1490_103+1491insATATATATTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99446771	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	364	0.0028	13	c.155 others(30): Show c.155-1325_155-1313dupTTTTTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF6_chr12_69234569_69279358	69249152	C C	CGGTGGGG others(6): Show CGGTGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01106.hp1 HG01257.hp1 others(15): Show HG00408.hp1 HG01106.hp1 HG01257.hp1 HG02004.hp1 HG02055.hp2 HG02165.hp2 HG02615.hp2 HG02717.hp1 HG03239.hp2 HG03486.hp2 NA18612.hp2 NA18959.hp1 NA18964.hp2 NA19057.hp2 NA19090.hp2 NA19091.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0024 others(5): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0024 a0001c0002t0037 a0001c0002t0069 a0001c0002t0075 a0001c0002t0089 a0001c0002t0091	a0001c0002t0001g0049 a0001c0002t0001g0092 a0001c0002t0001g0099 others(15): Show a0001c0002t0001g0049 a0001c0002t0001g0092 a0001c0002t0001g0099 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0154 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0006g0160 a0001c0002t0006g0164 a0001c0002t0024g0031 a0001c0002t0037g0087 a0001c0002t0069g0122 a0001c0002t0075g0120 a0001c0002t0089g0031 a0001c0002t0091g0125	18	392	0.0459	13	c.61- others(28): Show c.61-1975_61-1974insTGGGGGGGGGGGG	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
CPSF7_chr11_61397729_61434975	61434591	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	190	0.0053	13	c.-47 others(24): Show c.-4746_-4734dupAAAAAAAAAAAAA	CPSF7	ENSG00000149532.16	transcript	ENST00000439958.8	protein_coding		4617		chr11	TogoVar
CPT1A_chr11_68749883_68846916	68768066	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0011 a0002c0006t0011	a0002c0006t0011g0104 a0002c0006t0011g0104	1	236	0.0042	13	c.174 others(32): Show c.1740+5186_1740+5198dupAAAAAAAAAAAAA	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	14/18			chr11	TogoVar
CPT1C_chr19_49686116_49718731	49702050	T T	TATTTATA others(6): Show TATTTATATATAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0193 a0001c0004t0002g0193	1	350	0.0029	13	c.693 others(28): Show c.693+416_693+417insATTTATATATAAA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19			chr19	TogoVar
CPT1C_chr19_49686116_49718731	49702075	T T	TATTTATA others(6): Show TATTTATATATAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0193 a0001c0004t0002g0193	1	350	0.0029	13	c.693 others(28): Show c.693+441_693+442insATTTATATATAAA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19			chr19	TogoVar
CPT1C_chr19_49686116_49718731	49712343	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	350	0.0029	13	c.201 others(30): Show c.2019+386_2020-377dupAAAAAAAAAAAAA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPXM2_chr10_123740639_123896807	123832826	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02027.hp2 HG02055.hp1 others(17): Show HG01243.hp2 HG02027.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02155.hp2 HG02630.hp2 HG02647.hp2 HG02738.hp1 HG02818.hp1 HG02976.hp1 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp1 NA18967.hp2 NA19000.hp1 NA19085.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0009	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0001c0013 a0001c0031 a0001c0032 a0002c0006 a0005c0012 a0008c0038 a0009c0035	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0005t0001 a0001c0005t0005 a0001c0011t0001 a0001c0011t0002 a0001c0013t0018 a0001c0031t0006 a0001c0032t0001 a0002c0006t0004 a0002c0006t0007 a0002c0006t0011 a0005c0012t0014 a0008c0038t0016 a0009c0035t0015	a0001c0001t0001g0229 a0001c0001t0001g0267 a0001c0001t0002g0040 others(17): Show a0001c0001t0001g0229 a0001c0001t0001g0267 a0001c0001t0002g0040 a0001c0001t0002g0269 a0001c0002t0002g0283 a0001c0005t0001g0280 a0001c0005t0001g0281 a0001c0005t0005g0071 a0001c0011t0001g0210 a0001c0011t0002g0231 a0001c0013t0018g0213 a0001c0031t0006g0193 a0001c0032t0001g0225 a0002c0006t0004g0013 a0002c0006t0004g0015 a0002c0006t0007g0010 a0002c0006t0011g0006 a0005c0012t0014g0255 a0008c0038t0016g0016 a0009c0035t0015g0019	20	288	0.0694	13	c.653 others(30): Show c.653+9522_653+9523insTTTTTTTTTTTTT	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	4/13			chr10	TogoVar
CR2_chr1_207449328_207494892	207458059	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	378	0.0027	13	c.58+ others(28): Show c.58+3583_58+3584insCACACACACACAC	CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	1/19			chr1	TogoVar
CR2_chr1_207449328_207494892	207486230	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03710.hp2 HG03492.hp2 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0001 a0001c0003t0005	a0001c0003t0001g0181 a0001c0003t0005g0201 a0001c0003t0001g0181 a0001c0003t0005g0201	2	378	0.0053	13	c.18 others(28): Show c.18+672_*18+684dupAAAAAAAAAAAAA	CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACDL_chr2_98788846_98941225	98795077	A A	ATATTTTT others(6): Show ATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	316	0.0032	13	c.275 others(30): Show c.2750-407_2750-406insAAAAAAAAAAATA	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9			chr2	TogoVar
CRACDL_chr2_98788846_98941225	98795077	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02922.hp2 NA18993.hp2 HG02896.hp1 HG02922.hp2 NA18993.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0026 a0001c0001t0001g0049 a0005c0005t0001g0029 a0001c0001t0001g0026 a0001c0001t0001g0049 a0005c0005t0001g0029	3	316	0.0095	13	c.275 others(30): Show c.2750-419_2750-407dupAAAAAAAAAAAAA	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9			chr2	TogoVar
CRACDL_chr2_98788846_98941225	98870482	G G	GTGCAATT others(6): Show GTGCAATTAGAGTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00558.hp2 others(193): Show HG00280.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18978.hp1 NA18979.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0010	a0001c0001 a0001c0009 a0001c0010 others(9): Show a0001c0001 a0001c0009 a0001c0010 a0001c0012 a0002c0002 a0002c0007 a0003c0003 a0004c0004 a0005c0005 a0007c0014 a0009c0013 a0010c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0009t0001 a0001c0010t0001 a0001c0012t0001 a0002c0002t0001 a0002c0007t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0005c0005t0001 a0007c0014t0001 a0009c0013t0001 a0010c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(192): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0130 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0003g0034 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0262 a0001c0001t0004g0084 a0001c0009t0001g0243 a0001c0010t0001g0197 a0001c0012t0001g0202 a0002c0002t0001g0057 a0002c0002t0001g0190 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0232 a0002c0002t0001g0268 a0002c0007t0001g0205 a0002c0007t0001g0207 a0003c0003t0001g0092 a0003c0003t0001g0104 a0003c0003t0001g0141 a0003c0003t0001g0160 a0003c0003t0001g0162 a0003c0003t0001g0188 a0003c0003t0001g0265 a0003c0003t0001g0291 a0003c0003t0002g0004 a0003c0003t0002g0005 a0003c0003t0002g0006 a0004c0004t0001g0046 a0004c0004t0001g0047 a0004c0004t0001g0296 a0004c0004t0001g0298 a0004c0004t0001g0299 a0004c0004t0001g0300 a0004c0004t0001g0301 a0005c0005t0001g0028 a0005c0005t0001g0029 a0005c0005t0001g0031 a0005c0005t0001g0193 a0007c0014t0001g0204 a0009c0013t0001g0151 a0010c0008t0001g0297	196	316	0.6203	13	c.-10 others(32): Show c.-10-23673_-10-23672insGACTCTAATTGCA	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9			chr2	TogoVar
CRACDL_chr2_98788846_98941225	98891376	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp1 HG01081.hp2 others(18): Show HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01496.hp2 HG02071.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02698.hp1 HG02738.hp1 HG02818.hp2 HG03209.hp2 HG03453.hp1 NA18947.hp1 NA18995.hp2 NA19010.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0095 a0001c0001t0001g0184 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0292 a0004c0004t0001g0047 a0004c0004t0001g0299 a0004c0004t0001g0300	21	316	0.0665	13	c.-11 others(32): Show c.-11+44549_-11+44561dupTTTTTTTTTTTTT	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9			chr2	TogoVar

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