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
CAMK2B_chr7_44212154_44330594	44227306	GGAGAGTA others(11): Show GGAGAGTATGGGGGACAGA	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0031 a0002c0005t0031	a0002c0005t0031g0198 a0002c0005t0031g0198	1	242	0.0041	-18	c.146 others(35): Show c.1469-680_1469-663delTCTGTCCCCCATACTCTC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227313	ATGGGGGA others(11): Show ATGGGGGACAGAGGGGGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00544.hp1 others(51): Show HG00140.hp2 HG00438.hp1 HG00544.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01258.hp1 HG01361.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02135.hp2 HG02148.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03516.hp2 HG03688.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG06807.hp1 NA18906.hp2 NA18942.hp2 NA18966.hp1 NA18977.hp1 NA18979.hp1 NA18995.hp2 NA18998.hp2 NA19007.hp1 NA19043.hp1 NA19056.hp1 NA19067.hp2 NA19090.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0005 a0002c0009 a0002c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(15): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0030 a0001c0002t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0002 a0001c0006t0003 a0002c0005t0003 a0002c0005t0004 a0002c0005t0008 a0002c0005t0010 a0002c0009t0004 a0002c0009t0010 a0002c0011t0004 a0002c0011t0008	a0001c0001t0002g0017 a0001c0001t0002g0030 a0001c0001t0002g0076 others(50): Show a0001c0001t0002g0017 a0001c0001t0002g0030 a0001c0001t0002g0076 a0001c0001t0002g0087 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0156 a0001c0001t0002g0172 a0001c0001t0004g0018 a0001c0001t0004g0040 a0001c0001t0004g0093 a0001c0001t0004g0148 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0159 a0001c0001t0005g0169 a0001c0001t0015g0004 a0001c0001t0030g0084 a0001c0002t0001g0111 a0001c0002t0001g0211 a0001c0003t0002g0038 a0001c0003t0004g0180 a0001c0004t0002g0026 a0001c0006t0003g0183 a0002c0005t0003g0200 a0002c0005t0003g0205 a0002c0005t0003g0236 a0002c0005t0003g0237 a0002c0005t0004g0016 a0002c0005t0004g0108 a0002c0005t0004g0170 a0002c0005t0004g0171 a0002c0005t0004g0174 a0002c0005t0004g0182 a0002c0005t0004g0220 a0002c0005t0004g0222 a0002c0005t0004g0223 a0002c0005t0004g0227 a0002c0005t0008g0036 a0002c0005t0010g0007 a0002c0005t0010g0080 a0002c0005t0010g0135 a0002c0009t0004g0045 a0002c0009t0004g0070 a0002c0009t0004g0163 a0002c0009t0010g0081 a0002c0011t0004g0027 a0002c0011t0008g0224	54	242	0.2231	-18	c.146 others(35): Show c.1469-687_1469-670delCACCCCCTCTGTCCCCCA	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227729	GGGGTATA others(11): Show GGGGTATATGGGGGACAGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0006 a0002c0012t0006	a0002c0012t0006g0219 a0002c0012t0006g0219	1	242	0.0041	-18	c.146 others(37): Show c.1468+1049_1468+1066delTCTGTCCCCCATATACCC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44286370	ACACTGCA others(11): Show ACACTGCAGGGTTGACCCT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG04184.hp1 HG03688.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0037 a0001c0003t0002g0038 a0001c0003t0002g0037 a0001c0003t0002g0038	2	242	0.0083	-18	c.66- others(33): Show c.66-2163_66-2146delAGGGTCAACCCTGCAGTG	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	1/23			chr7	TogoVar
CAMK2D_chr4_113446032_113766738	113462278	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03098.hp1 HG01884.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0056 a0001c0003t0005 a0001c0001t0056 a0001c0003t0005	a0001c0001t0056g0100 a0001c0003t0005g0120 a0001c0001t0056g0100 a0001c0003t0005g0120	2	278	0.0072	-18	c.121 others(37): Show c.1212-2055_1212-2038delGACACACACACACACACA	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	17/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113474498	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 NA18942.hp2 others(2): Show HG00408.hp2 HG00597.hp2 NA18942.hp2 NA18967.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0106 others(2): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0106 a0001c0001t0002g0253 a0001c0001t0012g0018	5	278	0.0180	-18	c.113 others(37): Show c.1136-8912_1136-8895delAAAAAAAAAAAAAAAAAA	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	16/20			chr4	TogoVar
CAMK2N1_chr1_20477391_20491210	20482856	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18950.hp1 NA18953.hp1 NA18995.hp1 others(1): Show NA18950.hp1 NA18953.hp1 NA18995.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0014 a0001c0001t0012g0014	4	422	0.0095	-18	c.77 others(27): Show c.775_*792delACACACACACACACACAC	CAMK2N1	ENSG00000162545.6	transcript	ENST00000375078.4	protein_coding	2/2	775		chr1	TogoVar
CAMK2N1_chr1_20477391_20491210	20490514	CCACACAC others(11): Show CCACACACACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	422	0.0024	-18	c.-51 others(29): Show c.-5153_-5136delTGTGTGTGTGTGTGTGTG	CAMK2N1	ENSG00000162545.6	transcript	ENST00000375078.4	protein_coding		4305		chr1	TogoVar
CAMK2N2_chr3_184254213_184266553	184263637	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01175.hp2 others(2): Show HG01069.hp2 HG01071.hp2 HG01175.hp2 HG02647.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	5	380	0.0132	-18	c.-23 others(29): Show c.-2370_-2353delCTCTCTCTCTCTCTCTCT	CAMK2N2	ENSG00000163888.4	transcript	ENST00000296238.4	protein_coding		2085		chr3	TogoVar
CAMK4_chr5_111219384_111499886	111249666	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0213 a0001c0001t0011g0213	1	246	0.0041	-18	c.161 others(37): Show c.161+25044_161+25061delGTGTGTGTGTGTGTGTGT	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111273702	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19077.hp1 HG02615.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0137 a0001c0001t0169 a0001c0001t0137 a0001c0001t0169	a0001c0001t0137g0176 a0001c0001t0169g0173 a0001c0001t0137g0176 a0001c0001t0169g0173	2	246	0.0081	-18	c.161 others(37): Show c.161+49060_161+49077delTATATATATATATATACA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111397675	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0035 a0001c0001t0120g0035	1	246	0.0041	-18	c.459 others(35): Show c.459+2896_459+2913delTGTGTGTGTGTGTGTTTG	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111443267	TATATATA others(11): Show TATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	246	0.0041	-18	c.460 others(35): Show c.460-3417_460-3400delTATATATATATACACACA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111443269	TATATATA others(11): Show TATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp2 HG03654.hp2 others(10): Show HG00673.hp1 HG02027.hp2 HG03654.hp2 HG04228.hp1 NA18939.hp2 NA18949.hp2 NA18965.hp1 NA18986.hp1 NA18991.hp1 NA19000.hp1 NA19000.hp2 NA19058.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0023 a0001c0002t0030 a0001c0002t0037 a0001c0002t0129 a0001c0002t0138 a0001c0002t0145	a0001c0001t0059g0082 a0001c0002t0001g0081 a0001c0002t0001g0181 others(10): Show a0001c0001t0059g0082 a0001c0002t0001g0081 a0001c0002t0001g0181 a0001c0002t0002g0178 a0001c0002t0005g0094 a0001c0002t0006g0172 a0001c0002t0006g0180 a0001c0002t0023g0076 a0001c0002t0030g0103 a0001c0002t0037g0047 a0001c0002t0129g0095 a0001c0002t0138g0129 a0001c0002t0145g0012	13	246	0.0529	-18	c.460 others(35): Show c.460-3415_460-3398delTATATATATACACACACA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKK1_chr17_3855315_3898053	3871333	GTTTTTTT others(11): Show GTTTTTTTTTTTTTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG03195.hp2 HG01884.hp2 HG02451.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0006 a0001c0003t0029 a0001c0004t0006 a0001c0003t0006 a0001c0003t0029 a0001c0004t0006	a0001c0003t0006g0365 a0001c0003t0029g0410 a0001c0004t0006g0283 a0001c0003t0006g0365 a0001c0003t0029g0410 a0001c0004t0006g0283	3	446	0.0067	-18	c.112 others(37): Show c.1124+1203_1124+1220delAAAACAAAAAAAAAAAAA	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	12/15			chr17	TogoVar
CAMKMT_chr2_44356947_44777592	44400928	GTGTATAT others(11): Show GTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA20129.hp1 HG00738.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0113 a0001c0001t0002g0114	2	198	0.0101	-18	c.376 others(37): Show c.376+10625_376+10642delGTATATATATATATATAT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44445645	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18974.hp2 NA19004.hp1 HG03041.hp1 NA18974.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0018 a0001c0001t0001g0133 a0001c0001t0001g0135	3	198	0.0152	-18	c.376 others(37): Show c.376+55371_376+55388delTTTTTTTTTTTTTTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44538958	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03130.hp2 NA19043.hp2 HG01884.hp1 HG03130.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0001g0108 a0001c0001t0002g0006 a0001c0001t0001g0052 a0001c0001t0001g0108 a0001c0001t0002g0006	3	198	0.0152	-18	c.376 others(39): Show c.376+148681_376+148698delGTGTGTGTGTGTGTGTGT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44542529	ACACACAC others(11): Show ACACACACACTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	198	0.0051	-18	c.376 others(39): Show c.376+152226_376+152243delACACACACTCTCTCTCTC	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP2_chr1_200733893_200865704	200817159	CACACACG others(11): Show CACACACGTGTGTGTATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02886.hp2 HG02976.hp2 others(1): Show HG00408.hp1 HG02886.hp2 HG02976.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 others(1): Show a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0139	4	366	0.0109	-18	c.645 others(35): Show c.645+1522_645+1539delGTGTGTGTATATACACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	6926448	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02280.hp2 others(1): Show HG01884.hp2 HG02257.hp2 HG02280.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0002t0006	a0001c0001t0001g0007 a0001c0001t0002g0009 a0001c0002t0003g0006 others(1): Show a0001c0001t0001g0007 a0001c0001t0002g0009 a0001c0002t0003g0006 a0001c0002t0006g0008	4	58	0.0690	-18	c.234 others(39): Show c.234+101240_234+101257delTTCTTTCTTTCTTTCTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7102023	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG02257.hp1 others(14): Show HG00558.hp1 HG00558.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02523.hp2 HG02630.hp2 HG02647.hp2 HG02922.hp1 HG03041.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 NA19043.hp2 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0002t0006 a0001c0002t0010 a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 a0002c0004t0011 a0006c0007t0014	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0002g0036 others(14): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0002g0036 a0001c0001t0002g0046 a0001c0001t0003g0047 a0001c0001t0004g0034 a0001c0001t0008g0003 a0001c0001t0012g0051 a0001c0001t0013g0054 a0001c0001t0015g0037 a0001c0002t0006g0008 a0001c0002t0010g0010 a0001c0003t0005g0028 a0001c0003t0008g0032 a0001c0003t0010g0035 a0002c0004t0011g0005 a0006c0007t0014g0018	17	58	0.2931	-18	c.302 others(37): Show c.302+10682_302+10699delCACACACACACACACACA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7197628	CCACACAC others(11): Show CCACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0054 a0001c0001t0013g0054	1	58	0.0172	-18	c.303 others(37): Show c.303-51830_303-51813delCACACACACACACACACA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7284162	CTTCTTCT others(11): Show CTTCTTCTTCTTCTTCTTA	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	58	0.0172	-18	c.438 others(37): Show c.438+34539_438+34556delCTTCTTCTTCTTCTTATT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7398183	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03486.hp2 HG02922.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0010 a0001c0006t0005 a0001c0002t0010 a0001c0006t0005	a0001c0002t0010g0010 a0001c0006t0005g0057 a0001c0002t0010g0010 a0001c0006t0005g0057	2	58	0.0345	-18	c.439 others(37): Show c.439-69645_439-69628delCTCTCTCTCTATATATAT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7547348	GCACACAC others(11): Show GCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	58	0.0172	-18	c.510 others(37): Show c.510+79472_510+79489delCACACACACACACACACA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7668388	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0058 a0001c0001t0011g0058	1	58	0.0172	-18	c.265 others(37): Show c.2653-2496_2653-2479delACACACACACACACACAC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAP2_chr6_17388595_17562780	17461992	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0061 a0004c0010t0002g0061	1	206	0.0049	-18	c.223 others(33): Show c.223-990_223-973delAAAAAAAAAAAAAAAAAA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38736008	AGGTCTCG others(11): Show AGGTCTCGGGGGTCTCGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00558.hp1 others(68): Show HG00099.hp2 HG00140.hp1 HG00558.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01358.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG02056.hp2 HG02145.hp1 HG02145.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02976.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp2 NA18964.hp2 NA18967.hp1 NA18982.hp2 NA18986.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19063.hp2 NA19070.hp2 NA19077.hp2 NA19087.hp1 NA19090.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0020 a0023 a0025	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0020 a0002c0004 a0004c0008 a0005c0007 a0020c0022 a0023c0028 a0025c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0017 a0001c0002t0002 a0001c0003t0002 a0001c0013t0001 a0001c0020t0001 a0002c0004t0001 a0002c0004t0018 a0004c0008t0001 a0004c0008t0003 a0005c0007t0003 a0020c0022t0001 a0023c0028t0001 a0025c0017t0003	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(62): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0003g0307 a0001c0001t0013g0044 a0001c0001t0017g0133 a0001c0002t0002g0160 a0001c0003t0002g0205 a0001c0003t0002g0225 a0001c0013t0001g0247 a0001c0020t0001g0093 a0002c0004t0001g0053 a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0058 a0002c0004t0001g0059 a0002c0004t0001g0060 a0002c0004t0001g0061 a0002c0004t0001g0067 a0002c0004t0001g0068 a0002c0004t0001g0070 a0002c0004t0001g0074 a0002c0004t0018g0065 a0004c0008t0001g0135 a0004c0008t0001g0146 a0004c0008t0001g0147 a0004c0008t0003g0282 a0005c0007t0003g0266 a0005c0007t0003g0267 a0005c0007t0003g0268 a0005c0007t0003g0269 a0005c0007t0003g0270 a0005c0007t0003g0271 a0005c0007t0003g0272 a0020c0022t0001g0148 a0023c0028t0001g0062 a0025c0017t0003g0274	71	342	0.2076	-18	c.158 others(34): Show c.1583+84_1583+101delCCCGAGACCCCCGAGACC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736452	CCACCCCC others(11): Show CCACCCCCAGGGCAGTTTG	C C	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	342	0.0029	-18	c.137 others(33): Show c.1374+82_1374+99delCAAACTGCCCTGGGGGTG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	11/20			chr19	TogoVar
CAPN14_chr2_31168056_31222515	31191868	AGACATGG others(11): Show AGACATGGTAACTGTTGGT	A A	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19081.hp1 NA18991.hp2 NA19081.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0006 a0005c0013t0006	a0005c0013t0006g0132 a0005c0013t0006g0133 a0005c0013t0006g0132 a0005c0013t0006g0133	2	326	0.0061	-18	c.127 others(33): Show c.1278+49_1278+66delACCAACAGTTACCATGTC	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	11/21			chr2	TogoVar
CAPN1_chr11_65176928_65217006	65216680	AGTCGGTG others(11): Show AGTCGGTGAGTGAGTGGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0107 a0001c0004t0001g0107	1	394	0.0025	-18	c.53 others(29): Show c.5395_*5412delGTCGGTGAGTGAGTGGAT	CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding		4675		chr11	TogoVar
CAPN2_chr1_223707539_223781018	223733977	GGGTCCCA others(11): Show GGGTCCCAACTGCAGACTC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp1 HG02572.hp1 others(7): Show HG01243.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03453.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0009 a0001c0002 a0005c0009	a0001c0002t0001 a0001c0002t0006 a0005c0009t0003 a0001c0002t0001 a0001c0002t0006 a0005c0009t0003	a0001c0002t0001g0339 a0001c0002t0006g0004 a0001c0002t0006g0075 others(6): Show a0001c0002t0001g0339 a0001c0002t0006g0004 a0001c0002t0006g0075 a0001c0002t0006g0076 a0001c0002t0006g0336 a0001c0002t0006g0338 a0001c0002t0006g0340 a0001c0002t0006g0342 a0005c0009t0003g0341	10	378	0.0265	-18	c.308 others(37): Show c.308-10104_308-10087delGGTCCCAACTGCAGACTC	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN3_chr15_42354501_42417317	42398590	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03139.hp1 HG02280.hp2 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0188 a0002c0002t0001g0189	2	306	0.0065	-18	c.119 others(35): Show c.1194-874_1194-857delCACACACACACACACACA	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN9_chr1_230742388_230806989	230751585	CAAAGAAA others(11): Show CAAAGAAAGAAAGAAAGAA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0029 a0012c0015t0001g0029	1	394	0.0025	-18	c.214 others(35): Show c.214-3750_214-3733delAAGAAAGAAAGAAAGAAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230751591	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG00741.hp1 others(23): Show HG00099.hp2 HG00735.hp2 HG00741.hp1 HG01243.hp1 HG01257.hp2 HG02135.hp1 HG02257.hp2 HG02300.hp2 HG02523.hp1 HG02630.hp1 HG03225.hp1 HG03486.hp2 HG03688.hp1 HG03710.hp1 HG03942.hp1 HG04228.hp2 NA18612.hp2 NA18968.hp1 NA18977.hp1 NA18987.hp1 NA19030.hp1 NA19064.hp1 NA19074.hp2 NA19078.hp1 NA19087.hp1 NA19087.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0018 a0023	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0002c0006 a0002c0031 a0003c0004 a0004c0007 a0005c0008 a0006c0010 a0006c0014 a0018c0029 a0023c0038	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(9): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0002c0006t0001 a0002c0031t0001 a0003c0004t0001 a0004c0007t0002 a0005c0008t0001 a0006c0010t0001 a0006c0014t0001 a0018c0029t0001 a0023c0038t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(23): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0003t0001g0348 a0001c0003t0001g0349 a0001c0005t0001g0043 a0001c0005t0001g0260 a0002c0006t0001g0006 a0002c0006t0001g0007 a0002c0006t0001g0069 a0002c0006t0001g0244 a0002c0006t0001g0257 a0002c0006t0001g0258 a0002c0006t0001g0259 a0002c0006t0001g0331 a0002c0006t0001g0332 a0002c0031t0001g0347 a0003c0004t0001g0249 a0003c0004t0001g0261 a0004c0007t0002g0071 a0005c0008t0001g0096 a0005c0008t0001g0238 a0006c0010t0001g0094 a0006c0014t0001g0070 a0018c0029t0001g0280 a0023c0038t0001g0042	26	394	0.0660	-18	c.214 others(35): Show c.214-3726_214-3709delGAAAGAAAGAAAGAAAGA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230800216	AAAATAAG others(11): Show AAAATAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0071 a0004c0007t0002g0071	1	394	0.0025	-18	c.204 others(37): Show c.2047-1350_2047-1333delTAAGAAAGAAAGAAGAAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPRIN1_chr11_34046731_34107610	34103735	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02630.hp2 NA19043.hp2 HG02622.hp1 HG02630.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0007g0017	3	246	0.0122	-18	c.43 others(29): Show c.4369_*4386delAAAAAAAAAAAAAAAAAA	CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding		1126		chr11	TogoVar
CAPRIN2_chr12_30704553_30759951	30731753	TTAATGAG others(11): Show TTAATGAGATCAGAATCTC	T T	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0204 a0002c0002t0001g0204	1	378	0.0027	-18	c.650 others(33): Show c.650-261_650-244delGAGATTCTGATCTCATTA	CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding	6/18			chr12	TogoVar
CAPS2_chr12_75270979_75335324	75291567	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02055.hp1 HG02896.hp1 others(7): Show HG01069.hp2 HG02055.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03225.hp2 HG03540.hp2 NA18944.hp1 NA18948.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(5): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0002g0005 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0233 a0001c0001t0004g0130	10	370	0.0270	-18	c.112 others(35): Show c.1126+159_1126+176delTATATATATATATATATA	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	13/16			chr12	TogoVar
CAPS2_chr12_75270979_75335324	75291595	ATATATAT others(11): Show ATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01070.hp1 others(6): Show HG00323.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01167.hp2 HG01257.hp1 HG01258.hp1 NA18942.hp2 NA19070.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0008c0012t0001 a0001c0001t0001 a0008c0012t0001	a0001c0001t0001g0010 a0001c0001t0001g0055 a0001c0001t0001g0059 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0087 a0001c0001t0001g0097 a0008c0012t0001g0078	9	370	0.0243	-18	c.112 others(35): Show c.1126+131_1126+148delAATATATATATATATATA	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	13/16			chr12	TogoVar
CAPSL_chr5_35899288_35943622	35939393	TCTGACAC others(11): Show TCTGACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 NA18969.hp2 HG02083.hp1 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0077 a0002c0002t0001g0046 a0002c0002t0001g0077	2	402	0.0050	-18	c.-87 others(27): Show c.-871_-854delTGTGTGTGTGTGTGTCAG	CAPSL	ENSG00000152611.12	transcript	ENST00000651391.1	protein_coding		772		chr5	TogoVar
CAPZA2_chr7_116857587_116927049	116859904	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02615.hp1 HG02886.hp2 others(2): Show HG01433.hp2 HG02615.hp1 HG02886.hp2 HG02896.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0033 a0001c0001t0037 a0001c0001t0001 a0001c0001t0033 a0001c0001t0037	a0001c0001t0001g0186 a0001c0001t0001g0213 a0001c0001t0001g0299 others(2): Show a0001c0001t0001g0186 a0001c0001t0001g0213 a0001c0001t0001g0299 a0001c0001t0033g0349 a0001c0001t0037g0298	5	354	0.0141	-18	c.-27 others(29): Show c.-2707_-2690delTCTTTCTTTCTTTCTTTC	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding		2682		chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	354	0.0028	-18	c.40- others(33): Show c.40-7410_40-7393delTTTTTTTTTTTTTTTTTT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19420338	ATGCAGTA others(11): Show ATGCAGTAAACTATGTCAC	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0164 a0001c0001t0013g0164	1	364	0.0028	-18	c.4-6 others(29): Show c.4-606_4-589delGTGACATAGTTTACTGCA	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19469741	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG02040.hp2 others(21): Show HG00408.hp1 HG00597.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02155.hp1 HG02735.hp1 HG03669.hp2 HG03704.hp1 HG04228.hp1 NA18942.hp2 NA18943.hp2 NA18955.hp2 NA18969.hp1 NA18974.hp1 NA18980.hp1 NA18983.hp2 NA18993.hp2 NA18994.hp1 NA19005.hp1 NA19065.hp1 NA19070.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0006t0003	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 others(21): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0161 a0001c0001t0001g0185 a0001c0002t0001g0098 a0001c0002t0002g0279 a0001c0002t0002g0352 a0001c0002t0002g0361 a0001c0002t0003g0143 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0280 a0001c0002t0003g0281 a0001c0002t0003g0351 a0001c0002t0003g0353 a0001c0002t0003g0354 a0001c0002t0003g0359 a0001c0002t0003g0362 a0001c0006t0003g0099	24	364	0.0659	-18	c.3+1 others(33): Show c.3+15677_3+15694delGTGTGTGTGTGTGTGTGT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19471865	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03130.hp1 HG03139.hp2 others(2): Show HG02723.hp1 HG03130.hp1 HG03139.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 others(2): Show a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0193 a0001c0001t0010g0117	5	364	0.0137	-18	c.3+1 others(33): Show c.3+13553_3+13570delTTTTTTTTTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	2933704	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01123.hp1 others(7): Show HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01192.hp2 HG01255.hp2 HG02135.hp1 HG02896.hp2 HG02976.hp1 HG03139.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0020	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0009t0002 a0001c0020t0013	a0001c0001t0001g0295 a0001c0001t0001g0302 a0001c0002t0001g0019 others(7): Show a0001c0001t0001g0295 a0001c0001t0001g0302 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0129 a0001c0002t0001g0196 a0001c0003t0001g0306 a0001c0005t0001g0307 a0001c0009t0002g0308 a0001c0020t0013g0051	10	322	0.0311	-18	c.151 others(35): Show c.1518+731_1518+748delAAGAAAGAAAGAAAGAAA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	10/24			chr7	TogoVar
CARD14_chr17_80165030_80214331	80175952	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01261.hp2 HG02056.hp2 others(6): Show HG01123.hp2 HG01261.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 NA18949.hp2 NA18950.hp1 NA18999.hp1 NA19068.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0003c0032 others(2): Show a0001c0001 a0002c0002 a0003c0032 a0004c0003 a0006c0009	a0001c0001t0002 a0002c0002t0001 a0003c0032t0001 others(2): Show a0001c0001t0002 a0002c0002t0001 a0003c0032t0001 a0004c0003t0001 a0006c0009t0001	a0001c0001t0002g0114 a0001c0001t0002g0323 a0002c0002t0001g0099 others(6): Show a0001c0001t0002g0114 a0001c0001t0002g0323 a0002c0002t0001g0099 a0002c0002t0001g0113 a0002c0002t0001g0131 a0003c0032t0001g0115 a0004c0003t0001g0139 a0006c0009t0001g0100 a0006c0009t0001g0135	9	376	0.0239	-18	c.-36 others(37): Show c.-366-2533_-366-2516delTTTTTTTTTTTTTTTTTT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD18_chr11_105132714_105144769	105144372	GATATATA others(11): Show GATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	432	0.0023	-18	c.-46 others(29): Show c.-4664_-4647delATATATATATATATATAT	CARD18	ENSG00000255501.3	transcript	ENST00000530950.2	protein_coding		4604		chr11	TogoVar

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