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
CAMK1D_chr10_12344547_12840545	12695066	A A	AGATAGAT others(17): Show AGATAGATAGATACCTAGGTAGATT	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18948.hp1 HG01167.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0110 a0001c0002t0055 a0001c0001t0110 a0001c0002t0055	a0001c0001t0110g0150 a0001c0002t0055g0207 a0001c0001t0110g0150 a0001c0002t0055g0207	2	214	0.0094	24	c.299 others(43): Show c.299+28256_299+28257insGATAGATAGATACCTAGGTAGATT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12746161	G G	GAGATCAT others(17): Show GAGATCATCCTGGCTAACACGGTGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02717.hp1 others(8): Show HG02257.hp2 HG02258.hp2 HG02717.hp1 HG02809.hp2 HG02897.hp1 HG02922.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0019 a0001c0001t0039 others(7): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0039 a0001c0001t0088 a0001c0001t0091 a0001c0001t0108 a0001c0001t0113 a0001c0002t0027 a0001c0002t0045 a0001c0002t0065	a0001c0001t0002g0032 a0001c0001t0002g0139 a0001c0001t0019g0086 others(8): Show a0001c0001t0002g0032 a0001c0001t0002g0139 a0001c0001t0019g0086 a0001c0001t0039g0014 a0001c0001t0088g0087 a0001c0001t0091g0030 a0001c0001t0108g0020 a0001c0001t0113g0034 a0001c0002t0027g0036 a0001c0002t0045g0118 a0001c0002t0065g0140	11	214	0.0514	24	c.300 others(43): Show c.300-14785_300-14762dupGATCATCCTGGCTAACACGGTGAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12801354	T T	TATCTATC others(17): Show TATCTATCTATCTTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0083 a0001c0001t0034g0083	1	214	0.0047	24	c.641 others(43): Show c.641+10121_641+10122insATCTATCTATCTTATCTATCTATC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	6/10			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12801354	T T	TATCTATC others(17): Show TATCTATCTTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0154 a0001c0001t0056g0154	1	214	0.0047	24	c.641 others(43): Show c.641+10121_641+10122insATCTATCTTATCTATCTATCTATC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	6/10			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12801354	T T	TATCTTAT others(17): Show TATCTTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03209.hp2 HG02293.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0019 a0001c0001t0014 a0001c0001t0019	a0001c0001t0014g0147 a0001c0001t0019g0086 a0001c0001t0014g0147 a0001c0001t0019g0086	2	214	0.0094	24	c.641 others(43): Show c.641+10121_641+10122insATCTTATCTATCTATCTATCTATC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	6/10			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12801354	T T	TTATCTAT others(17): Show TTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19056.hp2 NA19091.hp2 NA18959.hp1 NA19056.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0038 a0001c0001t0078 a0001c0002t0073 a0001c0001t0038 a0001c0001t0078 a0001c0002t0073	a0001c0001t0038g0175 a0001c0001t0078g0199 a0001c0002t0073g0058 a0001c0001t0038g0175 a0001c0001t0078g0199 a0001c0002t0073g0058	3	214	0.0140	24	c.641 others(43): Show c.641+10138_641+10161dupTATCTATCTATCTATCTATCTATC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12801391	T T	TATCTATC others(17): Show TATCTATCTATCTATCTATCTATCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0170 a0001c0001t0031g0170	1	214	0.0047	24	c.641 others(43): Show c.641+10161_641+10162insTATCTATCTATCTATCTATCCATC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12827472	G G	GTCTTTCT others(17): Show GTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0048 a0001c0002t0021g0048	1	214	0.0047	24	c.104 others(43): Show c.1040-1251_1040-1228dupCTTTCTTTCTTTCTTTCTTTCTTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12838657	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG01256.hp2 others(8): Show HG00642.hp2 HG01109.hp2 HG01256.hp2 HG03486.hp2 HG03490.hp2 HG06807.hp1 HG06807.hp2 NA18990.hp2 NA19085.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0001t0031 a0001c0001t0034 others(7): Show a0001c0001t0019 a0001c0001t0031 a0001c0001t0034 a0001c0001t0058 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0105 a0001c0002t0057 a0001c0002t0107	a0001c0001t0019g0039 a0001c0001t0031g0168 a0001c0001t0034g0083 others(8): Show a0001c0001t0019g0039 a0001c0001t0031g0168 a0001c0001t0034g0083 a0001c0001t0034g0202 a0001c0001t0058g0093 a0001c0001t0085g0110 a0001c0001t0086g0181 a0001c0001t0087g0124 a0001c0001t0105g0111 a0001c0002t0057g0005 a0001c0002t0107g0117	11	214	0.0514	24	c.97 others(35): Show c.9770_*9771insTTTATTTATTTATTTATTTATTTA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding		3113		chr10	TogoVar
CAMK2D_chr4_113446032_113766738	113462338	G G	GTCTATCT others(17): Show GTCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0155 a0001c0001t0050g0155	1	278	0.0036	24	c.121 others(43): Show c.1212-2121_1212-2098dupTAGATAGATAGATAGATAGATAGA	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	17/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113603773	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0038 a0001c0001t0044g0038	1	278	0.0036	24	c.275 others(41): Show c.275+5355_275+5378dupTATATATATATATATATATATATA	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	4/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113709746	G G	GATATATA others(17): Show GATATATACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0146 a0001c0001t0004g0146	1	278	0.0036	24	c.161 others(43): Show c.161-47975_161-47974insATATATATATATATATGTATATAT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113709746	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01169.hp2 HG01891.hp2 others(13): Show HG00099.hp1 HG01169.hp2 HG01891.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02148.hp1 HG02451.hp1 HG02698.hp1 HG03098.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp2 NA18980.hp1 NA18999.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0023	a0001c0001t0002g0239 a0001c0001t0002g0254 a0001c0001t0002g0255 others(13): Show a0001c0001t0002g0239 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0004g0179 a0001c0001t0005g0053 a0001c0001t0005g0157 a0001c0001t0006g0208 a0001c0001t0007g0165 a0001c0001t0007g0170 a0001c0001t0007g0171 a0001c0001t0008g0231 a0001c0001t0010g0175 a0001c0001t0011g0123 a0001c0001t0015g0229 a0001c0001t0018g0230 a0001c0001t0023g0012	16	278	0.0576	24	c.161 others(43): Show c.161-47998_161-47975dupATATATATATATATATATATATAT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK4_chr5_111219384_111499886	111355486	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0132 a0001c0001t0132	a0001c0001t0132g0104 a0001c0001t0132g0104	1	246	0.0041	24	c.240 others(43): Show c.240+11388_240+11411dupATTTATTTATTTATTTATTTATTT	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111480249	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03710.hp1 HG03540.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0102 a0001c0001t0007 a0001c0001t0102	a0001c0001t0007g0155 a0001c0001t0102g0205 a0001c0001t0007g0155 a0001c0001t0102g0205	2	246	0.0081	24	c.828 others(41): Show c.828+1759_828+1782dupACACACACACACACACACACACAC	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKK2_chr12_121232692_121301709	121268083	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02559.hp2 others(5): Show HG01891.hp1 HG01891.hp2 HG02559.hp2 HG02622.hp2 HG02717.hp1 HG03041.hp1 HG03139.hp1 HG03669.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0007 a0001c0009 a0002c0002 others(1): Show a0001c0007 a0001c0009 a0002c0002 a0004c0005	a0001c0007t0013 a0001c0009t0005 a0001c0009t0011 others(4): Show a0001c0007t0013 a0001c0009t0005 a0001c0009t0011 a0002c0002t0001 a0002c0002t0003 a0002c0002t0013 a0004c0005t0001	a0001c0007t0013g0044 a0001c0009t0005g0032 a0001c0009t0011g0030 others(5): Show a0001c0007t0013g0044 a0001c0009t0005g0032 a0001c0009t0011g0030 a0001c0009t0011g0033 a0002c0002t0001g0002 a0002c0002t0003g0154 a0002c0002t0013g0278 a0004c0005t0001g0020	8	330	0.0242	24	c.625 others(39): Show c.625+554_625+555insATATATATATATATATATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	5/16			chr12	TogoVar
CAMKMT_chr2_44356947_44777592	44410231	G G	GTATATAT others(17): Show GTATATATATATAGTCTATAGACTA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	198	0.0051	24	c.376 others(43): Show c.376+19938_376+19939insGTCTATAGACTATATATATATATA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44614936	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03209.hp1 HG02683.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0182 a0001c0001t0001g0103 a0001c0001t0001g0182	2	198	0.0101	24	c.377 others(43): Show c.377-89346_377-89323dupTTTTTTTTTTTTTTTTTTTTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44673471	G G	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	198	0.0051	24	c.377 others(43): Show c.377-30783_377-30760dupAGGAAGGAAGGAAGGAAGGAAGGA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135892848	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02055.hp1 HG03540.hp2 HG01433.hp1 HG02055.hp1 HG03540.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0026 a0001c0001 a0001c0002 a0008c0026	a0001c0001t0002 a0001c0002t0003 a0008c0026t0001 a0001c0001t0002 a0001c0002t0003 a0008c0026t0001	a0001c0001t0002g0032 a0001c0002t0003g0289 a0008c0026t0001g0124 a0001c0001t0002g0032 a0001c0002t0003g0289 a0008c0026t0001g0124	3	340	0.0088	24	c.161 others(41): Show c.161-9771_161-9770insTTTTTTTTTTTTTTTTTTTTTTTT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	1/16			chr9	TogoVar
CAMSAP2_chr1_200733893_200865704	200747636	G G	GGGATGGG others(17): Show GGGATGGGCTTTGGTTTTGATTTGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02615.hp1 HG03831.hp2 HG01109.hp2 HG02615.hp1 HG03831.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0191 a0003c0004t0008g0192 a0003c0004t0008g0193 a0003c0004t0008g0191 a0003c0004t0008g0192 a0003c0004t0008g0193	3	366	0.0082	24	c.139 others(41): Show c.139+7670_139+7671insGGATGGGCTTTGGTTTTGATTTGA	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	1/16			chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816758	G G	GTGTACAC others(17): Show GTGTACACACACACGCGTGTATATA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	366	0.0027	24	c.645 others(41): Show c.645+1117_645+1118insACACACACACGCGTGTATATATGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816765	C C	CACACACG others(17): Show CACACACGCGTGTATATATGTGTGT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	366	0.0027	24	c.645 others(41): Show c.645+1127_645+1128insGCGTGTATATATGTGTGTACACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816810	A A	ATGTGTGT others(17): Show ATGTGTGTACACACACACGCGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	366	0.0027	24	c.645 others(41): Show c.645+1167_645+1168insGTGTGTACACACACACGCGTGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGC others(17): Show GTATGTGCGTACACACACACGCGTA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	366	0.0027	24	c.645 others(41): Show c.645+1328_645+1329insCGTACACACACACGCGTATATGTG	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGT others(17): Show GTATGTGTGTACACACACACGCGTA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02165.hp2 HG03516.hp1 others(2): Show HG02148.hp2 HG02165.hp2 HG03516.hp1 NA19064.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0252 a0001c0001t0001g0257 others(2): Show a0001c0001t0001g0202 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0269 a0001c0001t0001g0364	5	366	0.0137	24	c.645 others(41): Show c.645+1329_645+1330insGTACACACACACGCGTATATGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP3_chr19_7590863_7623304	7600114	G G	GCCATCCA others(17): Show GCCATCCACCCACCCACCCTCCCAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02965.hp1 others(5): Show HG02280.hp2 HG02451.hp1 HG02965.hp1 HG03098.hp2 HG03209.hp1 HG03486.hp1 HG03516.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0003t0003 a0001c0005t0001 a0001c0001t0002 a0001c0003t0003 a0001c0005t0001	a0001c0001t0002g0282 a0001c0003t0003g0004 a0001c0003t0003g0071 others(3): Show a0001c0001t0002g0282 a0001c0003t0003g0004 a0001c0003t0003g0071 a0001c0003t0003g0072 a0001c0003t0003g0073 a0001c0005t0001g0301	8	358	0.0224	24	c.148 others(41): Show c.148+4007_148+4030dupTCCCACCCATCCACCCACCCACCC	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMSAP3_chr19_7590863_7623304	7605147	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18991.hp1 HG02818.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0198 a0001c0001t0001g0168 a0001c0001t0001g0198	2	358	0.0056	24	c.149 others(37): Show c.149-72_149-49dupGTGTGTGTGTGTGTGTGTGTGTGT	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMSAP3_chr19_7590863_7623304	7614259	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	358	0.0028	24	c.267 others(41): Show c.2671-923_2671-900dupAAAAAAAAAAAAAAAAAAAAAAAA	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMTA1_chr1_6780454_7774706	6963270	G G	GCCCCCCC others(17): Show GCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0014 a0001c0001t0021g0014	1	58	0.0172	24	c.235 others(45): Show c.235-128034_235-128033insCCCCCCCCCCCCCCCCCCCCCCCC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22			chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7051663	C C	CTGCCAGG others(17): Show CTGCCAGGACAGACTCATCCCTGTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp1 HG00735.hp2 others(4): Show HG00558.hp1 HG00735.hp1 HG00735.hp2 HG02004.hp1 HG03688.hp1 HG03704.hp1 NA18999.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0009 a0004c0014 others(1): Show a0001c0001 a0001c0009 a0004c0014 a0007c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0025 a0001c0009t0019 a0004c0014t0001 a0007c0008t0007	a0001c0001t0001g0013 a0001c0001t0003g0047 a0001c0001t0021g0014 others(4): Show a0001c0001t0001g0013 a0001c0001t0003g0047 a0001c0001t0021g0014 a0001c0001t0025g0052 a0001c0009t0019g0039 a0004c0014t0001g0041 a0007c0008t0007g0023	7	58	0.1207	24	c.235 others(43): Show c.235-39600_235-39577dupTCCCTGTTTGCCAGGACAGACTCA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0035 a0001c0003t0010g0035	1	58	0.0172	24	c.438 others(43): Show c.438+26678_438+26679insATATATATATATATATATTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0025 a0001c0002t0003g0025	1	58	0.0172	24	c.438 others(43): Show c.438+26678_438+26679insATATATATATATTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7284126	G G	GTTCTTCT others(17): Show GTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0045 a0001c0003t0023g0045	1	58	0.0172	24	c.438 others(43): Show c.438+34530_438+34553dupCTTCTTCTTCTTCTTCTTCTTCTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7310700	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0014 a0001c0001t0021g0014	1	58	0.0172	24	c.438 others(43): Show c.438+61077_438+61078insCTCTCTCTCTCTCTCTTTCTTTCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7335124	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18999.hp1 HG02523.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0048 a0001c0003t0001g0004 a0001c0001t0003g0048 a0001c0003t0001g0004	2	58	0.0345	24	c.438 others(43): Show c.438+85514_438+85515insTGTGTGTGTGTGTGTGTGTGTGTG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7340565	C C	CCTCCCTC others(17): Show CCTCCCTCCCTCCCTCCCTCCCTCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	58	0.0172	24	c.438 others(43): Show c.438+90941_438+90942insCCCTCCCTCCCTCCCTCCCTCGCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7391328	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	58	0.0172	24	c.439 others(43): Show c.439-76495_439-76472dupGTGTGTGTGTGTGTGTGTGTGTGT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01515.hp2 HG01517.hp1 others(1): Show HG00639.hp2 HG01515.hp2 HG01517.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0222 a0001c0001t0003g0015 a0001c0001t0003g0063 a0001c0001t0001g0222 a0001c0001t0003g0015 a0001c0001t0003g0063	4	380	0.0105	24	c.721 others(39): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAP1_chr1_40035729_40077648	40062773	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18964.hp2 HG00140.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0156 a0001c0001t0007g0166 a0001c0001t0004g0156 a0001c0001t0007g0166	2	378	0.0053	24	c.294 others(39): Show c.294+963_294+986dupGTGTGTGTGTGTGTGTGTGTGTGT	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAP2_chr6_17388595_17562780	17406398	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0014 a0001c0009t0001g0014	1	206	0.0049	24	c.-2+ others(41): Show c.-2+12667_-2+12668insTTTTTTTTTTTTTTTTTTTTTTTT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17406412	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02145.hp2 others(5): Show HG01243.hp1 HG01884.hp1 HG02145.hp2 HG03098.hp1 HG03139.hp1 HG03540.hp1 NA19043.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0003c0007t0001	a0001c0001t0001g0067 a0001c0001t0001g0083 a0001c0001t0001g0085 others(5): Show a0001c0001t0001g0067 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0196 a0001c0002t0001g0090 a0001c0003t0001g0084 a0001c0003t0001g0091 a0003c0007t0001g0205	8	206	0.0388	24	c.-2+ others(41): Show c.-2+12667_-2+12668insTTTTTTTTTTTTTTTTTTTTTTCT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17500340	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01943.hp1 HG01071.hp2 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0137 a0001c0002t0001g0125 a0001c0001t0002g0137 a0001c0002t0001g0125	2	206	0.0097	24	c.301 others(41): Show c.301-6808_301-6785dupATATATATATATATATATATATAT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPG_chr2_85389753_85415366	85397704	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG02572.hp1 others(4): Show HG01109.hp2 HG02257.hp1 HG02572.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0019 a0001c0003t0001g0082 a0001c0003t0001g0147 others(1): Show a0001c0003t0001g0019 a0001c0003t0001g0082 a0001c0003t0001g0147 a0001c0003t0001g0163	7	410	0.0171	24	c.892 others(39): Show c.892+292_892+315dupCTTTCTTTCTTTCTTTCTTTCTTT	CAPG	ENSG00000042493.16	transcript	ENST00000263867.9	protein_coding	8/9			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30759022	T T	TCTTCCTT others(17): Show TCTTCCTTCCCTCCCTCCCTCCTTC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0196 a0002c0003t0001g0196	1	384	0.0026	24	c.775 others(39): Show c.775-909_775-886dupGAAGGAGGGAGGGAGGGAAGGAAG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30768678	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp1 HG02055.hp2 others(17): Show HG01109.hp2 HG01433.hp1 HG02055.hp2 HG02257.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03579.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA21309.hp2	a0001 a0007 a0013 a0001 a0007 a0013	a0001c0001 a0007c0008 a0013c0012 a0001c0001 a0007c0008 a0013c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0007c0008t0001 a0013c0012t0002	a0001c0001t0001g0127 a0001c0001t0001g0145 a0001c0001t0001g0236 others(17): Show a0001c0001t0001g0127 a0001c0001t0001g0145 a0001c0001t0001g0236 a0001c0001t0002g0071 a0001c0001t0002g0079 a0001c0001t0002g0176 a0001c0001t0002g0223 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0282 a0001c0001t0003g0269 a0001c0001t0004g0064 a0001c0001t0005g0101 a0001c0001t0005g0242 a0001c0001t0006g0128 a0001c0001t0008g0078 a0007c0008t0001g0281 a0013c0012t0002g0268	20	384	0.0521	24	c.524 others(41): Show c.524+1611_524+1634dupGGAAGGAAGGAAGGAAGGAAGGAA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	5/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30796173	T T	TATATATA others(17): Show TATATATATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02486.hp2 others(2): Show HG02109.hp2 HG02145.hp2 HG02486.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0003g0345	5	384	0.0130	24	c.-32 others(41): Show c.-32-8817_-32-8816insGTATATATATGTATATATATATAT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30800116	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18949.hp2 NA18945.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0368 a0001c0002t0002g0152 a0001c0001t0002g0368 a0001c0002t0002g0152	2	384	0.0052	24	c.-33 others(41): Show c.-33+7162_-33+7185dupCTTTCTTTCTTTCTTTCTTTCTTT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30800149	A A	AAAGAAAG others(17): Show AAAGAAAGAAAGAAAGAAAGAAAGT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0138 a0016c0019t0001g0138	1	384	0.0026	24	c.-33 others(41): Show c.-33+7152_-33+7153insACTTTCTTTCTTTCTTTCTTTCTT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN14_chr2_31168056_31222515	31181386	T T	TTCTCTTT others(17): Show TTCTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0147 a0002c0004t0009g0147	1	326	0.0031	24	c.164 others(41): Show c.1646-387_1646-386insGAAAGAAAGAAAGAAAGAAAGAGA	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	16/21			chr2	TogoVar

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