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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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
CACNG7_chr19_53904278_53948950	53924118	GCCCCAGG others(19): Show GCCCCAGGTCTGGTTATTGGTGGACTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp2 HG02109.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0059 a0001c0001t0019g0281 a0001c0001t0001g0059 a0001c0001t0019g0281	2	364	0.0055	-26	c.424 others(43): Show c.424+8614_424+8639delCCCCAGGTCTGGTTATTGGTGGACTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53924766	GGCTGGTC others(19): Show GGCTGGTCATTGGTGGACTTGCCTAGT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20129.hp2 HG02922.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0028 a0001c0001t0003g0029	2	364	0.0055	-26	c.424 others(43): Show c.424+9284_424+9309delTAGTGCTGGTCATTGGTGGACTTGCC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53925011	TATTGGTG others(19): Show TATTGGTGGACTTGCCTAGGGCTGGTC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	364	0.0028	-26	c.424 others(43): Show c.424+9522_424+9547delTAGGGCTGGTCATTGGTGGACTTGCC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53925085	TCTGGTCA others(19): Show TCTGGTCATTGGTGGACTTGCCTAGGG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01261.hp2 HG02056.hp2 others(3): Show HG01168.hp2 HG01261.hp2 HG02056.hp2 HG02148.hp1 HG02273.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0171 a0001c0001t0001g0279 others(3): Show a0001c0001t0001g0126 a0001c0001t0001g0171 a0001c0001t0001g0279 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0336	6	364	0.0165	-26	c.424 others(43): Show c.424+9628_424+9653delTAGGGCTGGTCATTGGTGGACTTGCC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM1_chr11_115164236_115509415	115400659	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	164	0.0061	-26	c.124 others(47): Show c.124+103586_124+103611delTATATATATATATATATATATATA CA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	84991245	TGGAAAAT others(19): Show TGGAAAATTCATTGGAATTTTCCCGAG	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03834.hp1 NA18950.hp1 others(3): Show HG03704.hp1 HG03834.hp1 NA18950.hp1 NA18982.hp1 NA18995.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0001 a0001c0001t0003 a0001c0001t0017	a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 others(3): Show a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0017g0089	6	146	0.0411	-26	c.61+ others(43): Show c.61+31587_61+31612delATTGGAATTTTCCCGAGGGAAAATTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85321114	ATATTTTT others(19): Show ATATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0025 a0001c0003t0006g0025	1	146	0.0069	-26	c.61+ others(45): Show c.61+361448_61+361473delATTTTTTTTTTTTTTTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85321116	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA20300.hp2 HG02809.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0025 a0001c0001t0014 a0001c0001t0025	a0001c0001t0014g0026 a0001c0001t0025g0132 a0001c0001t0014g0026 a0001c0001t0025g0132	2	146	0.0137	-26	c.61+ others(45): Show c.61+361473_61+361498delTTTTTTTTTTTTTTTTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85336955	AATATATA others(19): Show AATATATATATTAAATATATATTTAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp2 others(39): Show HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00621.hp2 HG00738.hp1 HG01074.hp2 HG01099.hp2 HG01261.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01981.hp1 HG02015.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp1 NA18906.hp1 NA18949.hp1 NA18977.hp2 NA18982.hp2 NA18984.hp1 NA19003.hp2 NA19043.hp2 NA19060.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0045 a0001c0002t0016 a0001c0002t0034 a0001c0003t0024 a0001c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0063 others(39): Show a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0003g0055 a0001c0001t0003g0062 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0085 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0004g0064 a0001c0001t0005g0061 a0001c0001t0005g0071 a0001c0001t0005g0083 a0001c0001t0007g0082 a0001c0001t0010g0067 a0001c0001t0022g0081 a0001c0001t0022g0087 a0001c0001t0023g0006 a0001c0001t0029g0145 a0001c0001t0035g0036 a0001c0001t0036g0106 a0001c0001t0038g0142 a0001c0001t0045g0134 a0001c0002t0016g0051 a0001c0002t0034g0046 a0001c0003t0024g0004 a0001c0003t0024g0007 a0001c0004t0001g0111	42	146	0.2877	-26	c.61+ others(45): Show c.61+377299_61+377324delAAATATATATTTAATATATATATATT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85601130	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03209.hp1 HG02922.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0040 a0001c0003t0024 a0001c0001t0040 a0001c0003t0024	a0001c0001t0040g0024 a0001c0003t0024g0004 a0001c0001t0040g0024 a0001c0003t0024g0004	2	146	0.0137	-26	c.62- others(45): Show c.62-125373_62-125348delTATATATATATATATATATATATATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85769083	AGTATATA others(19): Show AGTATATATACACATATATACATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp1 HG02559.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0026 a0001c0001t0014g0118 a0001c0001t0014g0026 a0001c0001t0014g0118	2	146	0.0137	-26	c.89- others(43): Show c.89-32937_89-32912delGTATATATACACATATATACATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85769489	ATATATAC others(19): Show ATATATACATATATGTATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp1 others(57): Show HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00621.hp2 HG00738.hp1 HG01074.hp1 HG01099.hp1 HG01175.hp2 HG01243.hp1 HG01261.hp2 HG01361.hp2 HG01515.hp2 HG01884.hp1 HG01981.hp2 HG02129.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18950.hp1 NA18952.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp2 NA18995.hp2 NA19003.hp1 NA19060.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0036 a0001c0001t0043 a0001c0001t0049 a0001c0002t0048 a0001c0004t0033 a0002c0005t0004	a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0063 others(57): Show a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0125 a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0032 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0078 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0119 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0003g0093 a0001c0001t0004g0053 a0001c0001t0004g0064 a0001c0001t0004g0075 a0001c0001t0004g0105 a0001c0001t0004g0117 a0001c0001t0005g0128 a0001c0001t0007g0029 a0001c0001t0007g0082 a0001c0001t0008g0101 a0001c0001t0009g0008 a0001c0001t0009g0037 a0001c0001t0009g0066 a0001c0001t0009g0094 a0001c0001t0010g0067 a0001c0001t0010g0146 a0001c0001t0012g0129 a0001c0001t0017g0089 a0001c0001t0017g0135 a0001c0001t0018g0035 a0001c0001t0019g0130 a0001c0001t0019g0131 a0001c0001t0020g0097 a0001c0001t0021g0126 a0001c0001t0021g0127 a0001c0001t0023g0003 a0001c0001t0023g0006 a0001c0001t0027g0022 a0001c0001t0030g0116 a0001c0001t0031g0124 a0001c0001t0032g0112 a0001c0001t0036g0106 a0001c0001t0043g0060 a0001c0001t0049g0033 a0001c0002t0048g0096 a0001c0004t0033g0110 a0002c0005t0004g0058	60	146	0.4110	-26	c.89- others(43): Show c.89-32492_89-32467delGTATATATACACGTATATACATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122323873	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	126	0.0079	-26	c.371 others(45): Show c.3717+1578_3717+1603delTATATATATATATATATATATATATA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	29/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122708520	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01175.hp1 HG01346.hp1 others(20): Show HG01070.hp2 HG01175.hp1 HG01346.hp1 HG01952.hp1 HG01975.hp2 HG02080.hp2 HG02132.hp1 HG02486.hp2 HG02886.hp1 HG03017.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 NA18944.hp1 NA18984.hp2 NA18990.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0014 a0001c0001t0001g0071 a0001c0001t0001g0073 others(20): Show a0001c0001t0001g0014 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0001g0121 a0001c0001t0002g0008 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0003g0042 a0001c0001t0003g0078 a0001c0001t0003g0094 a0001c0001t0003g0113 a0001c0001t0003g0117 a0001c0002t0001g0044 a0001c0002t0007g0086 a0001c0003t0001g0046 a0001c0003t0001g0104 a0001c0003t0002g0023 a0001c0003t0002g0032 a0001c0003t0002g0112	23	126	0.1825	-26	c.453 others(45): Show c.453+28409_453+28434delATATATATATATATATATATATATAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CAGE1_chr6_7321659_7394742	7333630	CTATCTAA others(19): Show CTATCTAACTATCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	360	0.0028	-26	c.243 others(43): Show c.2438+366_2438+391delTATATATATATATAGATAGTTAGATA	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	12/13			chr6	TogoVar
CALCRL_chr2_187336964_187453252	187341096	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01175.hp1 HG00423.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0005 a0001c0001t0003 a0001c0002t0005	a0001c0001t0003g0219 a0001c0002t0005g0188 a0001c0001t0003g0219 a0001c0002t0005g0188	2	344	0.0058	-26	c.50 others(37): Show c.5062_*5087delATATATATATATATATATATATATAT	CALCRL	ENSG00000064989.13	transcript	ENST00000392370.8	protein_coding		867		chr2	TogoVar
CALCR_chr7_93419486_93579724	93460568	AAAAAATA others(19): Show AAAAAATATATATATATATATATATGT	A A	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18964.hp2 NA18940.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0235 a0001c0001t0003g0201 a0001c0001t0003g0235	2	292	0.0069	-26	c.648 others(41): Show c.648+227_648+252delACATATATATATATATATATATTTTT	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	8/13			chr7	TogoVar
CALHM4_chr6_116548751_116566127	116550003	TATATATA others(19): Show TATATATATATATATATATATATACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0017 a0001c0002t0047g0017	1	408	0.0025	-26	c.-37 others(37): Show c.-3790_-3765delATATATATATATATATATATATACAC	CALHM4	ENSG00000164451.14	transcript	ENST00000368596.4	protein_coding		3747		chr6	TogoVar
CALHM5_chr6_116506639_116529788	116516660	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0013 a0001c0001t0076g0013	1	402	0.0025	-26	c.69 others(35): Show c.695_*720delTATATATATATATATATATATATATA	CALHM5	ENSG00000178033.6	transcript	ENST00000368599.4	protein_coding	2/2	695	INFO_REALIGN_3_PRIME	chr6	TogoVar
CALHM5_chr6_116506639_116529788	116516684	TATATATA others(19): Show TATATATATATATATATATATATATAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG02486.hp1 HG02896.hp1 others(3): Show HG00741.hp2 HG02486.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0020 a0001c0001t0008g0003 a0001c0001t0008g0020	6	402	0.0149	-26	c.69 others(35): Show c.697_*722delTATATATATATATATATATATATACA	CALHM5	ENSG00000178033.6	transcript	ENST00000368599.4	protein_coding	2/2	697	INFO_REALIGN_3_PRIME	chr6	TogoVar
CALN1_chr7_71774491_72417338	71798101	CAGAGAGA others(19): Show CAGAGAGAGACAGAGACAGAGACAGAG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01934.hp1 HG02129.hp2 others(7): Show HG00438.hp2 HG01934.hp1 HG02129.hp2 HG02622.hp1 HG02683.hp1 HG03453.hp1 HG03490.hp1 NA18942.hp2 NA18961.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0031 a0001c0001t0037 a0001c0001t0038 a0001c0001t0044	a0001c0001t0001g0037 a0001c0001t0002g0036 a0001c0001t0003g0065 others(7): Show a0001c0001t0001g0037 a0001c0001t0002g0036 a0001c0001t0003g0065 a0001c0001t0006g0018 a0001c0001t0009g0029 a0001c0001t0012g0011 a0001c0001t0031g0024 a0001c0001t0037g0072 a0001c0001t0038g0025 a0001c0001t0044g0083	10	142	0.0704	-26	c.659 others(45): Show c.659-10225_659-10200delCTCTGTCTCTGTCTCTGTCTCTCTCT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	6/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	71897992	AGAGAGAG others(19): Show AGAGAGAGAGAGGGAGGGAGGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19043.hp1 HG01109.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0041 a0001c0001t0022 a0001c0001t0041	a0001c0001t0022g0001 a0001c0001t0041g0069 a0001c0001t0022g0001 a0001c0001t0041g0069	2	142	0.0141	-26	c.502 others(45): Show c.502-87526_502-87501delCCCCCCCCTCCCTCCCTCTCTCTCTC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	71971947	AAAAAAAA others(19): Show AAAAAAAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0078 a0001c0001t0020g0078	1	142	0.0070	-26	c.501 others(45): Show c.501+51684_501+51709delCTTTCTTTCTTTCTTTCTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72290079	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19240.hp1 NA20905.hp2 HG03098.hp1 NA19240.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0033 a0001c0001t0002 a0001c0001t0005 a0001c0001t0033	a0001c0001t0002g0059 a0001c0001t0005g0006 a0001c0001t0033g0115 a0001c0001t0002g0059 a0001c0001t0005g0006 a0001c0001t0033g0115	3	142	0.0211	-26	c.120 others(45): Show c.120-11295_120-11270delTTTTTTTTTTTTTTTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALR_chr19_12933609_12949489	12939888	AGGCTCCA others(19): Show AGGCTCCACCCACAGCCCATTCAGGAC	A A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	350	0.0029	-26	c.398 others(41): Show c.398-164_398-139delGGCTCCACCCACAGCCCATTCAGGAC	CALR	ENSG00000179218.15	transcript	ENST00000316448.10	protein_coding	3/8			chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12387392	ATATATTT others(19): Show ATATATTTTTATATATTATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00621.hp2 others(25): Show HG00323.hp1 HG00423.hp2 HG00621.hp2 HG01168.hp1 HG01258.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02074.hp2 HG02165.hp1 HG02273.hp1 HG02486.hp1 HG02976.hp1 HG03098.hp2 HG03927.hp1 HG04184.hp1 NA18945.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18978.hp1 NA19056.hp1 NA19091.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0070 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0079 a0001c0001t0082 a0001c0001t0090 a0001c0001t0093 a0001c0001t0101 a0001c0002t0004 a0001c0002t0008 a0001c0002t0015 a0001c0002t0057	a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0130 others(25): Show a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0130 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0002g0206 a0001c0001t0003g0129 a0001c0001t0005g0204 a0001c0001t0006g0075 a0001c0001t0007g0183 a0001c0001t0009g0072 a0001c0001t0009g0122 a0001c0001t0040g0081 a0001c0001t0042g0085 a0001c0001t0043g0026 a0001c0001t0070g0123 a0001c0001t0072g0057 a0001c0001t0074g0060 a0001c0001t0075g0210 a0001c0001t0079g0151 a0001c0001t0082g0067 a0001c0001t0090g0115 a0001c0001t0093g0114 a0001c0001t0101g0156 a0001c0002t0004g0077 a0001c0002t0008g0205 a0001c0002t0015g0050 a0001c0002t0057g0005	28	214	0.1308	-26	c.92+ others(43): Show c.92+37488_92+37513delTTTTATATATTATATATATTTTATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691352	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18612.hp2 HG02486.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0133 a0001c0001t0002g0088 a0001c0001t0001g0133 a0001c0001t0002g0088	2	214	0.0094	-26	c.299 others(45): Show c.299+24587_299+24612delATATATAAATATATATATATATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691403	AAATATAT others(19): Show AAATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0110 a0001c0001t0085g0110	1	214	0.0047	-26	c.299 others(45): Show c.299+24594_299+24619delAATATATATATATATATATTTTTTTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12734365	TATATATA others(19): Show TATATATATATATAGATATAGATATAG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03486.hp1 HG02717.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0039 a0001c0001t0002 a0001c0001t0039	a0001c0001t0002g0139 a0001c0001t0039g0014 a0001c0001t0002g0139 a0001c0001t0039g0014	2	214	0.0094	-26	c.300 others(45): Show c.300-26569_300-26544delGATATAGATATAGATATATATATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2N1_chr1_20477391_20491210	20490514	CCACACAC others(19): Show CCACACACACACACACACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA19086.hp2 NA18994.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0022 a0001c0001t0005 a0001c0001t0022	a0001c0001t0005g0005 a0001c0001t0022g0039 a0001c0001t0005g0005 a0001c0001t0022g0039	2	422	0.0047	-26	c.-51 others(37): Show c.-5161_-5136delTGTGTGTGTGTGTGTGTGTGTGTGTG	CAMK2N1	ENSG00000162545.6	transcript	ENST00000375078.4	protein_coding		4305		chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816694	ACACATAT others(19): Show ACACATATATGTGTATATATACACACG	A A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	366	0.0027	-26	c.645 others(43): Show c.645+1064_645+1089delATATATACACACGCACATATATGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816713	TACACACG others(19): Show TACACACGCACATATATGTGTGTACAC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	366	0.0027	-26	c.645 others(43): Show c.645+1078_645+1103delACATATATGTGTGTACACACACACGC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816736	ACACACAC others(19): Show ACACACACACGCGTGTATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG02572.hp2 others(6): Show HG01243.hp2 HG02451.hp1 HG02572.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03486.hp2 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0086 others(6): Show a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0185	9	366	0.0246	-26	c.645 others(43): Show c.645+1093_645+1118delCACACACACGCGTGTATATATGTGTG	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16			chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816810	ATATGTGT others(19): Show ATATGTGTGTACACACACACGCGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp2 HG02723.hp1 others(1): Show HG02145.hp2 HG02622.hp2 HG02723.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0338 a0001c0001t0001g0339 others(1): Show a0001c0001t0001g0333 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0353	4	366	0.0109	-26	c.645 others(43): Show c.645+1304_645+1329delGTACACACACACGCGTGTGTATGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7161509	CTGTGCTG others(19): Show CTGTGCTGTTCTCATGATAGTGAATGA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	58	0.0172	-26	c.302 others(45): Show c.302+70139_302+70164delTGTGCTGTTCTCATGATAGTGAATGA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22			chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7310698	CTCTCTTT others(19): Show CTCTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0056 a0001c0001t0013g0056	1	58	0.0172	-26	c.438 others(45): Show c.438+61076_438+61101delCTTTCTTTCTTTCTTTCTTTCTTTCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7398181	CTCTCTCT others(19): Show CTCTCTCTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0044 a0001c0005t0005g0044	1	58	0.0172	-26	c.439 others(45): Show c.439-69647_439-69622delCTCTCTCTCTCTATATATATATATAT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7398183	CTCTCTCT others(19): Show CTCTCTCTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0006 a0001c0015t0006	a0001c0015t0006g0043 a0001c0015t0006g0043	1	58	0.0172	-26	c.439 others(45): Show c.439-69645_439-69620delCTCTCTCTCTATATATATATATATAT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7398189	CTCTCTAT others(19): Show CTCTCTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0045 a0001c0003t0023g0045	1	58	0.0172	-26	c.439 others(45): Show c.439-69639_439-69614delCTCTATATATATATATATATATATAT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7463154	CCTTCAGG others(19): Show CCTTCAGGCCCCATCTGCTCCCCGGGG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	58	0.0172	-26	c.439 others(43): Show c.439-4673_439-4648delTCAGGCCCCATCTGCTCCCCGGGGCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CANT1_chr17_78986716_79014764	79004267	AGAGGAGT others(19): Show AGAGGAGTTAGGGAGGGGGGAGTTAGG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01071.hp1 others(1): Show HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0108 a0001c0002t0007g0109 a0001c0002t0007g0110 others(1): Show a0001c0002t0007g0108 a0001c0002t0007g0109 a0001c0002t0007g0110 a0001c0002t0007g0111	4	394	0.0102	-26	c.-14 others(45): Show c.-147+5371_-147+5396delCCTAACTCCCCCCTCCCTAACTCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004439	AGAGGAGT others(19): Show AGAGGAGTTAAGGAGAGGGGAGTTAGG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18980.hp1 HG00544.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0206 a0001c0002t0005g0119 a0001c0002t0003g0206 a0001c0002t0005g0119	2	394	0.0051	-26	c.-14 others(45): Show c.-147+5199_-147+5224delCCTAACTCCCCTCTCCTTAACTCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004643	GGGAGCTG others(19): Show GGGAGCTGGGGGGGAGTTATGGAGCAA	G G	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19002.hp1 NA18957.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0010 a0001c0002t0005 a0001c0003t0010	a0001c0002t0005g0192 a0001c0003t0010g0096 a0001c0002t0005g0192 a0001c0003t0010g0096	2	394	0.0051	-26	c.-14 others(45): Show c.-147+4995_-147+5020delTTGCTCCATAACTCCCCCCCAGCTCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004869	AGAGGAGT others(19): Show AGAGGAGTTAAGGAGAGGGGAGTTAGG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01071.hp1 others(2): Show HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01175.hp1 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0009 a0001c0002t0007 a0001c0002t0009	a0001c0002t0007g0108 a0001c0002t0007g0109 a0001c0002t0007g0110 others(2): Show a0001c0002t0007g0108 a0001c0002t0007g0109 a0001c0002t0007g0110 a0001c0002t0007g0111 a0001c0002t0009g0233	5	394	0.0127	-26	c.-14 others(45): Show c.-147+4769_-147+4794delCCTAACTCCCCTCTCCTTAACTCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004914	GGGAGCTG others(19): Show GGGAGCTGGGGGGGAGTTATGGAGCAA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02027.hp1 HG02040.hp1 others(15): Show HG00621.hp2 HG02027.hp1 HG02040.hp1 HG02135.hp1 HG03491.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18971.hp1 NA18981.hp1 NA19001.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19079.hp2 NA19089.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002	a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0067 others(8): Show a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0067 a0001c0002t0003g0197 a0001c0003t0002g0005 a0001c0003t0002g0025 a0001c0003t0002g0056 a0001c0003t0002g0063 a0001c0003t0002g0064 a0001c0003t0002g0075 a0001c0003t0002g0076	18	394	0.0457	-26	c.-14 others(45): Show c.-147+4724_-147+4749delTTGCTCCATAACTCCCCCCCAGCTCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAP2_chr6_17388595_17562780	17500340	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	206	0.0049	-26	c.301 others(43): Show c.301-6810_301-6785delATATATATATATATATATATATATAT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN13_chr2_30717771_30812446	30758746	CCCTCCCT others(19): Show CCCTCCCTCCCTCTCTTTCCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01358.hp1 HG01928.hp2 others(5): Show HG01109.hp2 HG01358.hp1 HG01928.hp2 HG01978.hp1 HG02027.hp2 HG02451.hp2 HG03139.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0002c0003t0004	a0001c0001t0001g0145 a0001c0001t0001g0224 a0001c0001t0001g0236 others(5): Show a0001c0001t0001g0145 a0001c0001t0001g0224 a0001c0001t0001g0236 a0001c0001t0004g0064 a0001c0002t0002g0194 a0001c0002t0002g0336 a0001c0002t0002g0354 a0002c0003t0004g0172	8	384	0.0208	-26	c.775 others(41): Show c.775-635_775-610delAAGGAAAGGAAAGAGAGGGAGGGAGG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30796200	GTATATAT others(19): Show GTATATATATATACACATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00621.hp1 others(42): Show HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01361.hp1 HG02083.hp1 HG02132.hp1 HG02602.hp1 HG02735.hp1 HG03098.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG04204.hp1 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18984.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18998.hp1 NA19002.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19067.hp2 NA19081.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0002 a0001c0020 others(4): Show a0001c0001 a0001c0002 a0001c0020 a0002c0003 a0003c0004 a0004c0005 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0020t0004 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0003c0004t0002 a0003c0004t0005 a0004c0005t0002 a0009c0014t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0134 a0001c0001t0001g0279 a0001c0001t0002g0044 a0001c0001t0003g0036 a0001c0001t0003g0043 a0001c0001t0003g0372 a0001c0001t0004g0024 a0001c0001t0004g0041 a0001c0001t0006g0042 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0002g0021 a0001c0002t0002g0029 a0001c0002t0002g0039 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0004g0037 a0001c0002t0005g0022 a0001c0002t0005g0026 a0001c0020t0004g0051 a0002c0003t0001g0019 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0035 a0002c0003t0001g0156 a0002c0003t0001g0165 a0002c0003t0002g0020 a0002c0003t0002g0030 a0002c0003t0004g0006 a0002c0003t0004g0025 a0003c0004t0002g0013 a0003c0004t0002g0016 a0003c0004t0002g0018 a0003c0004t0002g0052 a0003c0004t0005g0031 a0004c0005t0002g0034 a0004c0005t0002g0040 a0009c0014t0002g0055	45	384	0.1172	-26	c.-32 others(43): Show c.-32-8869_-32-8844delTACATATATATGTGTATATATATATA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN14_chr2_31168056_31222515	31190801	TTTTACTC others(19): Show TTTTACTCCTGTTTTCTTTGGGAAATA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	326	0.0031	-26	c.128 others(43): Show c.1287+572_1287+597delTATTTCCCAAAGAAAACAGGAGTAAA	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	12/21			chr2	TogoVar
CAPN15_chr16_522712_559636	555920	CCTCCCCT others(19): Show CCTCCCCTCCCTTCTCTGTGCAGGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0112 a0001c0006t0001g0112	1	410	0.0024	-26	c.24 others(37): Show c.2405_*2430delCTCCCCTCCCTTCTCTGTGCAGGCCT	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding		1285		chr16	TogoVar

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