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
CALCR_chr7_93419486_93579724	93568509	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	292	0.0034	21	c.-27 others(38): Show c.-27+5779_-27+5780insGAGAGAGAGAGAGAGAGAGAG	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CALHM1_chr10_103448240_103463900	103451642	C C	CAGGAGGA others(14): Show CAGGAGGAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG02109.hp2 others(6): Show HG00544.hp1 HG00673.hp2 HG02109.hp2 HG02258.hp1 HG02486.hp2 NA19066.hp2 NA19078.hp2 NA19082.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 others(3): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0001t0021 a0001c0001t0037	a0001c0001t0005g0022 a0001c0001t0008g0011 a0001c0001t0011g0043 others(3): Show a0001c0001t0005g0022 a0001c0001t0008g0011 a0001c0001t0011g0043 a0001c0001t0018g0044 a0001c0001t0021g0083 a0001c0001t0037g0100	9	462	0.0195	21	c.35 others(32): Show c.3599_*3619dupCCTCCTCCTCCTCCTCCTCCT	CALHM1	ENSG00000185933.7	transcript	ENST00000329905.6	protein_coding		1597		chr10	TogoVar
CALHM1_chr10_103448240_103463900	103451675	G G	GAGGAGGA others(14): Show GAGGAGGAGGAGGAGGAGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0101 a0001c0001t0043g0101	1	462	0.0022	21	c.35 others(32): Show c.3586_*3587insACTCCTCCTCCTCCTCCTCCT	CALHM1	ENSG00000185933.7	transcript	ENST00000329905.6	protein_coding		1564		chr10	TogoVar
CALHM2_chr10_103441786_103457370	103451642	C C	CAGGAGGA others(14): Show CAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG02109.hp2 others(6): Show HG00544.hp2 HG00673.hp1 HG02109.hp2 HG02258.hp2 HG02486.hp1 NA19066.hp2 NA19078.hp2 NA19082.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0013 a0001c0001t0002g0063 a0001c0001t0010g0037 a0001c0001t0002g0013 a0001c0001t0002g0063 a0001c0001t0010g0037	9	458	0.0197	21	c.-36 others(38): Show c.-361-378_-361-358dupCCTCCTCCTCCTCCTCCTCCT	CALHM2	ENSG00000138172.11	transcript	ENST00000260743.10	protein_coding	1/3			chr10	TogoVar
CALHM2_chr10_103441786_103457370	103451675	G G	GAGGAGGA others(14): Show GAGGAGGAGGAGGAGGAGGAGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	458	0.0022	21	c.-36 others(38): Show c.-361-391_-361-390insACTCCTCCTCCTCCTCCTCCT	CALHM2	ENSG00000138172.11	transcript	ENST00000260743.10	protein_coding	1/3			chr10	TogoVar
CALM2_chr2_47155084_47181511	47167693	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA19085.hp1 NA18985.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0258 a0001c0001t0001g0250 a0001c0001t0001g0258	2	432	0.0046	21	c.34+ others(36): Show c.34+3020_34+3040dupTTTTTTTTTTTTTTTTTTTTT	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALN1_chr7_71774491_72417338	71971953	A A	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03130.hp1 NA18990.hp2 HG02080.hp1 HG03130.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0016 a0001c0001t0001 a0001c0001t0010 a0001c0001t0016	a0001c0001t0001g0109 a0001c0001t0010g0114 a0001c0001t0016g0081 a0001c0001t0001g0109 a0001c0001t0010g0114 a0001c0001t0016g0081	3	142	0.0211	21	c.501 others(40): Show c.501+51703_501+51704insCTTTCTTTCTTTCTTTCTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72016998	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG06807.hp1 HG01081.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0121 a0001c0001t0001g0124	2	142	0.0141	21	c.501 others(38): Show c.501+6658_501+6659insTTTTTTTTTTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72205551	A A	AAATATAT others(14): Show AAATATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp2 HG01255.hp1 others(9): Show HG01071.hp1 HG01106.hp2 HG01255.hp1 HG02055.hp1 HG02257.hp1 HG02486.hp2 HG02683.hp1 NA18942.hp1 NA18948.hp1 NA19043.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0041 a0001c0001t0045 a0001c0001t0049	a0001c0001t0001g0051 a0001c0001t0001g0120 a0001c0001t0001g0125 others(9): Show a0001c0001t0001g0051 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0002g0082 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0009g0102 a0001c0001t0012g0011 a0001c0001t0041g0069 a0001c0001t0045g0099 a0001c0001t0049g0130	12	142	0.0845	21	c.244 others(40): Show c.244+73134_244+73135insATATATATATATGTATATATT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03704.hp2 HG00639.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0021 a0001c0001t0017 a0001c0001t0021	a0001c0001t0017g0035 a0001c0001t0021g0068 a0001c0001t0017g0035 a0001c0001t0021g0068	2	142	0.0141	21	c.244 others(38): Show c.244+7110_244+7111insATATATATATATATATATTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72359976	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp1 HG03540.hp1 HG02717.hp1 HG03225.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0023 a0001c0001t0015 a0001c0001t0023	a0001c0001t0015g0026 a0001c0001t0015g0042 a0001c0001t0023g0002 a0001c0001t0015g0026 a0001c0001t0015g0042 a0001c0001t0023g0002	3	142	0.0211	21	c.119 others(40): Show c.119+43274_119+43275insTTTTTTTTTTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72396256	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	142	0.0070	21	c.119 others(38): Show c.119+6994_119+6995insCTTTCTTTCTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALU_chr7_128734359_128778400	128768847	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02738.hp2 HG02818.hp1 others(7): Show HG01981.hp2 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG03225.hp2 HG03453.hp2 HG03540.hp1 NA19002.hp2 NA19009.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0002g0198 a0001c0001t0002g0211 a0001c0001t0002g0212 others(5): Show a0001c0001t0002g0198 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0003g0256 a0001c0001t0004g0094 a0001c0001t0008g0011 a0001c0001t0008g0116 a0001c0001t0008g0118	10	338	0.0296	21	c.844 others(36): Show c.844-215_844-195dupAAAAAAAAAAAAAAAAAAAAA	CALU	ENSG00000128595.17	transcript	ENST00000249364.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12392017	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03486.hp2 HG02809.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0106 a0001c0001t0105 a0001c0001t0106	a0001c0001t0105g0111 a0001c0001t0106g0109 a0001c0001t0105g0111 a0001c0001t0106g0109	2	214	0.0094	21	c.92+ others(38): Show c.92+42107_92+42108insCACACACACACACACACACAC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12427700	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01167.hp1 HG01346.hp1 others(7): Show HG00099.hp1 HG01167.hp1 HG01346.hp1 HG02083.hp2 HG02165.hp2 HG03492.hp1 HG03579.hp2 NA18954.hp2 NA19030.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0030 others(7): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0030 a0001c0001t0035 a0001c0001t0043 a0001c0001t0046 a0001c0001t0069 a0001c0001t0091 a0001c0002t0004 a0001c0002t0055	a0001c0001t0002g0193 a0001c0001t0006g0073 a0001c0001t0030g0188 others(7): Show a0001c0001t0002g0193 a0001c0001t0006g0073 a0001c0001t0030g0188 a0001c0001t0035g0145 a0001c0001t0043g0026 a0001c0001t0046g0074 a0001c0001t0069g0044 a0001c0001t0091g0030 a0001c0002t0004g0208 a0001c0002t0055g0207	10	214	0.0467	21	c.92+ others(38): Show c.92+77795_92+77815dupTTTTTTTTTTTTTTTTTTTTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12541885	T T	TCCTTCCT others(14): Show TCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02074.hp2 HG00423.hp1 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0076 a0001c0002t0004 a0001c0001t0076 a0001c0002t0004	a0001c0001t0076g0128 a0001c0002t0004g0077 a0001c0001t0076g0128 a0001c0002t0004g0077	2	214	0.0094	21	c.93- others(38): Show c.93-11336_93-11335insCCTTCCTTCCTTCCTTCCCTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12568077	C C	CGCCCTCC others(14): Show CGCCCTCCCACCTTGCCTGCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(130): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18971.hp1 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19084.hp2 NA19085.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(75): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0047 a0001c0001t0050 a0001c0001t0056 a0001c0001t0062 a0001c0001t0070 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0082 a0001c0001t0083 a0001c0001t0086 a0001c0001t0088 a0001c0001t0090 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0101 a0001c0001t0103 a0001c0001t0104 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0113 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0016 a0001c0002t0021 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0002t0044 a0001c0002t0051 a0001c0002t0054 a0001c0002t0055 a0001c0002t0060 a0001c0002t0061 a0001c0002t0063 a0001c0002t0065 a0001c0002t0068 a0001c0002t0073 a0001c0002t0107 a0001c0003t0007	a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0051 others(130): Show a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0076 a0001c0001t0001g0130 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0191 a0001c0001t0002g0003 a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0001t0002g0088 a0001c0001t0002g0126 a0001c0001t0002g0172 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0206 a0001c0001t0003g0012 a0001c0001t0003g0045 a0001c0001t0003g0141 a0001c0001t0003g0180 a0001c0001t0003g0195 a0001c0001t0004g0134 a0001c0001t0005g0040 a0001c0001t0005g0054 a0001c0001t0005g0137 a0001c0001t0005g0189 a0001c0001t0006g0075 a0001c0001t0006g0152 a0001c0001t0006g0187 a0001c0001t0007g0078 a0001c0001t0007g0183 a0001c0001t0009g0072 a0001c0001t0009g0100 a0001c0001t0009g0122 a0001c0001t0012g0132 a0001c0001t0012g0169 a0001c0001t0012g0174 a0001c0001t0013g0107 a0001c0001t0013g0120 a0001c0001t0013g0155 a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0017g0159 a0001c0001t0017g0198 a0001c0001t0017g0200 a0001c0001t0018g0013 a0001c0001t0018g0090 a0001c0001t0018g0190 a0001c0001t0019g0039 a0001c0001t0019g0084 a0001c0001t0019g0086 a0001c0001t0020g0031 a0001c0001t0020g0142 a0001c0001t0022g0070 a0001c0001t0026g0143 a0001c0001t0028g0099 a0001c0001t0030g0188 a0001c0001t0031g0168 a0001c0001t0032g0042 a0001c0001t0033g0138 a0001c0001t0034g0083 a0001c0001t0034g0202 a0001c0001t0035g0106 a0001c0001t0036g0022 a0001c0001t0037g0052 a0001c0001t0038g0049 a0001c0001t0038g0175 a0001c0001t0040g0055 a0001c0001t0040g0081 a0001c0001t0042g0085 a0001c0001t0043g0026 a0001c0001t0047g0066 a0001c0001t0050g0027 a0001c0001t0056g0154 a0001c0001t0062g0144 a0001c0001t0070g0123 a0001c0001t0075g0210 a0001c0001t0077g0184 a0001c0001t0078g0199 a0001c0001t0082g0067 a0001c0001t0083g0061 a0001c0001t0086g0181 a0001c0001t0088g0087 a0001c0001t0090g0115 a0001c0001t0092g0163 a0001c0001t0093g0114 a0001c0001t0094g0094 a0001c0001t0095g0149 a0001c0001t0096g0098 a0001c0001t0097g0065 a0001c0001t0098g0037 a0001c0001t0099g0043 a0001c0001t0101g0156 a0001c0001t0103g0162 a0001c0001t0104g0089 a0001c0001t0109g0161 a0001c0001t0110g0150 a0001c0001t0111g0028 a0001c0001t0113g0034 a0001c0002t0004g0077 a0001c0002t0004g0091 a0001c0002t0004g0171 a0001c0002t0004g0208 a0001c0002t0008g0113 a0001c0002t0008g0153 a0001c0002t0008g0205 a0001c0002t0010g0007 a0001c0002t0010g0209 a0001c0002t0016g0165 a0001c0002t0016g0186 a0001c0002t0021g0048 a0001c0002t0023g0102 a0001c0002t0023g0103 a0001c0002t0024g0127 a0001c0002t0024g0131 a0001c0002t0025g0029 a0001c0002t0025g0146 a0001c0002t0044g0112 a0001c0002t0051g0179 a0001c0002t0054g0019 a0001c0002t0055g0207 a0001c0002t0060g0104 a0001c0002t0061g0033 a0001c0002t0063g0201 a0001c0002t0065g0140 a0001c0002t0068g0021 a0001c0002t0073g0058 a0001c0002t0107g0117 a0001c0003t0007g0063	133	214	0.6215	21	c.224 others(40): Show c.224+14723_224+14743dupCCCTCCCACCTTGCCTGCCTG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12573376	C C	CTTAGAGA others(14): Show CTTAGAGATGAGAGGTCGCGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01106.hp2 HG01884.hp2 others(31): Show HG00423.hp1 HG01106.hp2 HG01884.hp2 HG01891.hp1 HG02040.hp1 HG02083.hp2 HG02109.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02630.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0035 a0001c0001t0039 a0001c0001t0040 a0001c0001t0046 a0001c0001t0076 a0001c0001t0085 a0001c0001t0091 a0001c0001t0102 a0001c0001t0104 a0001c0001t0105 a0001c0001t0108 a0001c0001t0109 a0001c0001t0111 a0001c0001t0112 a0001c0002t0010 a0001c0002t0016 a0001c0002t0025 a0001c0002t0027 a0001c0002t0057 a0001c0002t0061 a0001c0002t0107	a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0002g0032 others(31): Show a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0002g0032 a0001c0001t0006g0073 a0001c0001t0011g0009 a0001c0001t0011g0018 a0001c0001t0019g0084 a0001c0001t0019g0086 a0001c0001t0020g0142 a0001c0001t0035g0106 a0001c0001t0035g0145 a0001c0001t0039g0157 a0001c0001t0040g0055 a0001c0001t0046g0074 a0001c0001t0076g0128 a0001c0001t0085g0110 a0001c0001t0091g0030 a0001c0001t0102g0010 a0001c0001t0104g0089 a0001c0001t0105g0111 a0001c0001t0108g0020 a0001c0001t0109g0161 a0001c0001t0111g0028 a0001c0001t0112g0038 a0001c0002t0010g0007 a0001c0002t0010g0079 a0001c0002t0010g0209 a0001c0002t0016g0006 a0001c0002t0025g0029 a0001c0002t0025g0146 a0001c0002t0027g0116 a0001c0002t0057g0005 a0001c0002t0061g0033 a0001c0002t0107g0117	34	214	0.1589	21	c.224 others(40): Show c.224+20023_224+20024insGAGATGAGAGGTCGCGTGTTA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12602895	G G	GTTATTAT others(14): Show GTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp2 others(25): Show HG00280.hp1 HG00323.hp2 HG00423.hp2 HG01069.hp1 HG01071.hp1 HG01168.hp1 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01884.hp1 HG01975.hp1 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02735.hp2 HG02965.hp1 HG03195.hp2 HG03491.hp1 HG03492.hp1 HG03831.hp2 NA18948.hp1 NA18953.hp1 NA18971.hp1 NA18977.hp1 NA19043.hp1 NA19085.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0017 a0001c0001t0018 a0001c0001t0030 a0001c0001t0032 a0001c0001t0039 a0001c0001t0048 a0001c0001t0049 a0001c0001t0058 a0001c0001t0070 a0001c0001t0074 a0001c0001t0079 a0001c0001t0083 a0001c0001t0089 a0001c0001t0097 a0001c0001t0108 a0001c0001t0110 a0001c0001t0112 a0001c0002t0004 a0001c0002t0016 a0001c0002t0063	a0001c0001t0001g0056 a0001c0001t0001g0130 a0001c0001t0001g0191 others(25): Show a0001c0001t0001g0056 a0001c0001t0001g0130 a0001c0001t0001g0191 a0001c0001t0002g0126 a0001c0001t0003g0045 a0001c0001t0003g0180 a0001c0001t0003g0195 a0001c0001t0005g0015 a0001c0001t0017g0200 a0001c0001t0018g0090 a0001c0001t0030g0188 a0001c0001t0032g0042 a0001c0001t0039g0157 a0001c0001t0048g0182 a0001c0001t0049g0101 a0001c0001t0058g0093 a0001c0001t0070g0123 a0001c0001t0074g0060 a0001c0001t0079g0151 a0001c0001t0083g0061 a0001c0001t0089g0035 a0001c0001t0097g0065 a0001c0001t0108g0020 a0001c0001t0110g0150 a0001c0001t0112g0038 a0001c0002t0004g0171 a0001c0002t0016g0006 a0001c0002t0063g0201	28	214	0.1308	21	c.224 others(40): Show c.224+49548_224+49568dupATTATTATTATTATTATTATT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12623427	C C	CCCCTCCC others(14): Show CCCCTCCCTCCGTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	214	0.0047	21	c.225 others(40): Show c.225-43307_225-43306insCTCCCTCCGTCCCTCCCTTCC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12662651	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03195.hp1 HG04204.hp1 HG01981.hp1 HG03195.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0042 a0001c0002t0027 a0001c0002t0060 a0001c0001t0042 a0001c0002t0027 a0001c0002t0060	a0001c0001t0042g0085 a0001c0002t0027g0036 a0001c0002t0060g0104 a0001c0001t0042g0085 a0001c0002t0027g0036 a0001c0002t0060g0104	3	214	0.0140	21	c.225 others(38): Show c.225-4072_225-4071insAAAAAAAAAAAAAAAAAAAAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12694252	A A	ATATATAA others(14): Show ATATATAATATAAAATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0214 a0001c0002t0052g0214	1	214	0.0047	21	c.299 others(40): Show c.299+27443_299+27444insATATAATATAAAATATATATT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12764381	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19030.hp2 HG03209.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0091 a0001c0001t0019 a0001c0001t0091	a0001c0001t0019g0086 a0001c0001t0091g0030 a0001c0001t0019g0086 a0001c0001t0091g0030	2	214	0.0094	21	c.438 others(38): Show c.438+3312_438+3313insAAAAAAAAAAAAAAAAAAAAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK4_chr5_111219384_111499886	111406194	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0213 a0001c0001t0011g0213	1	246	0.0041	21	c.459 others(40): Show c.459+11412_459+11413insCTCTCTCTCTCTCTCTCTCTC	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	5/10			chr5	TogoVar
CAMKMT_chr2_44356947_44777592	44614936	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0101 a0001c0001t0007g0101	1	198	0.0051	21	c.377 others(40): Show c.377-89343_377-89323dupTTTTTTTTTTTTTTTTTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44621266	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	198	0.0051	21	c.377 others(40): Show c.377-82998_377-82997insAAAAAAAAAAAAAAAAAAAAA	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(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01346.hp1 others(1): Show HG00099.hp1 HG00741.hp2 HG01346.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0003 a0001c0008t0026 a0001c0002t0003 a0001c0008t0026	a0001c0002t0003g0282 a0001c0002t0003g0286 a0001c0002t0003g0291 others(1): Show a0001c0002t0003g0282 a0001c0002t0003g0286 a0001c0002t0003g0291 a0001c0008t0026g0296	4	340	0.0118	21	c.161 others(38): Show c.161-9771_161-9770insTTTTTTTTTTTTTTTTTTTTT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	1/16			chr9	TogoVar
CAMTA1_chr1_6780454_7774706	7602020	G G	GGAGGGAG others(14): Show GGAGGGAGAGGGAGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02647.hp1 HG01884.hp2 HG02055.hp2 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0016 a0001c0017 a0001c0002 a0001c0016 a0001c0017	a0001c0002t0003 a0001c0016t0024 a0001c0017t0026 a0001c0002t0003 a0001c0016t0024 a0001c0017t0026	a0001c0002t0003g0006 a0001c0016t0024g0053 a0001c0017t0026g0027 a0001c0002t0003g0006 a0001c0016t0024g0053 a0001c0017t0026g0027	3	58	0.0517	21	c.511 others(40): Show c.511-38370_511-38369insGAGAGGAGGGAGAGGGAGAGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAND2_chr3_12791680_12839803	12812221	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0020 a0020	a0020c0023 a0020c0023	a0020c0023t0001 a0020c0023t0001	a0020c0023t0001g0244 a0020c0023t0001g0244	1	378	0.0027	21	c.758 others(36): Show c.758-750_758-749insTTTTTTTTTTTTTTTTTTTTT	CAND2	ENSG00000144712.13	transcript	ENST00000456430.6	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18952.hp1 NA18984.hp1 HG00621.hp2 NA18952.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0141 a0001c0001t0001g0172 a0001c0001t0004g0167 a0001c0001t0001g0141 a0001c0001t0001g0172 a0001c0001t0004g0167	3	380	0.0079	21	c.721 others(36): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAP2_chr6_17388595_17562780	17406412	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02896.hp1 HG01167.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0074 a0001c0001t0001g0075	2	206	0.0097	21	c.-2+ others(38): Show c.-2+12667_-2+12668insTTTTTTTTTTTTTTTTTTTCT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17461992	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	206	0.0049	21	c.223 others(36): Show c.223-993_223-973dupAAAAAAAAAAAAAAAAAAAAA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17500340	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	206	0.0049	21	c.301 others(38): Show c.301-6829_301-6828insTATATATATATATATATATAT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12			chr6	TogoVar
CAP2_chr6_17388595_17562780	17500384	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	206	0.0049	21	c.301 others(38): Show c.301-6785_301-6784insATATATATATATATATATATA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12			chr6	TogoVar
CAPN12_chr19_38725192_38749474	38728410	G G	GCTCCTCC others(14): Show GCTCCTCCTCCTCCTCCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0231 a0001c0002t0002g0231	1	342	0.0029	21	c.24 others(32): Show c.2421_*2441dupGAGGAGGAGGAGGAGGAGGAG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding		1781		chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735887	C C	CGGGGCGG others(14): Show CGGGGCGGTGGTTCTGCGGGCG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	342	0.0029	21	c.158 others(38): Show c.1583+222_1583+223insCGCCCGCAGAACCACCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736455	C C	CCCCCAGG others(14): Show CCCCCAGGGCAGGTTGACCAAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0029 a0003c0005t0004g0029	1	342	0.0029	21	c.137 others(36): Show c.1374+96_1374+97insCTTGGTCAACCTGCCCTGGGG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	11/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736460	A A	AGGGCAGG others(14): Show AGGGCAGGTTGACCAAGCCCCG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03710.hp1 HG03017.hp2 HG03710.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0026 a0003c0005t0004g0027 a0003c0005t0004g0026 a0003c0005t0004g0027	2	342	0.0059	21	c.137 others(36): Show c.1374+91_1374+92insCGGGGCTTGGTCAACCTGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	11/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736467	T T	TTTGACCA others(14): Show TTTGACCAAGCCCCAGGGCAGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp1 HG01192.hp1 others(14): Show HG00735.hp2 HG01071.hp1 HG01192.hp1 HG02055.hp1 HG02273.hp2 HG02293.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02976.hp2 HG03041.hp1 HG03490.hp1 HG03927.hp2 HG03942.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0004 a0001c0002 a0001c0003 a0002c0004	a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0002c0004t0001	a0001c0002t0002g0161 a0001c0002t0002g0213 a0001c0003t0001g0176 others(14): Show a0001c0002t0002g0161 a0001c0002t0002g0213 a0001c0003t0001g0176 a0001c0003t0001g0207 a0001c0003t0001g0209 a0001c0003t0002g0208 a0002c0004t0001g0056 a0002c0004t0001g0057 a0002c0004t0001g0058 a0002c0004t0001g0059 a0002c0004t0001g0060 a0002c0004t0001g0061 a0002c0004t0001g0066 a0002c0004t0001g0067 a0002c0004t0001g0068 a0002c0004t0001g0069 a0002c0004t0001g0070	17	342	0.0497	21	c.137 others(36): Show c.1374+64_1374+84dupCCTGCCCTGGGGCTTGGTCAA	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	11/20			chr19	TogoVar
CAPN15_chr16_522712_559636	544847	A A	ACGTCGTC others(14): Show ACGTCGTCGTCTCCCCCCACGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0202 a0005c0016t0001g0202	1	410	0.0024	21	c.-22 others(38): Show c.-22-1965_-22-1964insTCGTCTCCCCCCACGTCGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN3_chr15_42354501_42417317	42380751	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0204 a0005c0008t0001g0204	1	306	0.0033	21	c.310 others(38): Show c.310-3731_310-3730insATATATATATATATATATTTT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN3_chr15_42354501_42417317	42380751	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0202 a0007c0016t0001g0202	1	306	0.0033	21	c.310 others(38): Show c.310-3731_310-3730insATATATATATATATATTTTTT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN3_chr15_42354501_42417317	42380751	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0201 a0007c0016t0001g0201	1	306	0.0033	21	c.310 others(38): Show c.310-3731_310-3730insATATATATATATATTTTTTTT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN3_chr15_42354501_42417317	42380752	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	306	0.0033	21	c.310 others(38): Show c.310-3731_310-3730insATATATATATATATATATATA	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23			chr15	TogoVar
CAPN6_chrX_111240099_111275483	111270389	C C	CCTGCTGC others(14): Show CCTGCTGCTGCTGCTGCTGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02559.hp1 HG02647.hp1 HG03041.hp1 others(1): Show HG02559.hp1 HG02647.hp1 HG03041.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0019 a0002c0002t0020 a0002c0003t0010 a0002c0002t0019 a0002c0002t0020 a0002c0003t0010	a0002c0002t0019g0044 a0002c0002t0020g0047 a0002c0003t0010g0045 others(1): Show a0002c0002t0019g0044 a0002c0002t0020g0047 a0002c0003t0010g0045 a0002c0003t0010g0046	4	242	0.0165	21	c.-55 others(28): Show c.-55_-35dupCAGCAGCAGCAGCAGCAGCAG	CAPN6	ENSG00000077274.9	transcript	ENST00000324068.2	protein_coding	1/13	6454		chrX	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18965.hp2 NA18971.hp2 others(1): Show HG03834.hp2 NA18965.hp2 NA18971.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0106 a0001c0001t0013g0160 a0001c0001t0013g0161 others(1): Show a0001c0001t0002g0106 a0001c0001t0013g0160 a0001c0001t0013g0161 a0001c0001t0013g0162	4	354	0.0113	21	c.40- others(36): Show c.40-7413_40-7393dupTTTTTTTTTTTTTTTTTTTTT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116904969	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp1 HG02965.hp2 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0334 a0001c0002t0003g0335 a0001c0002t0003g0334 a0001c0002t0003g0335	2	354	0.0057	21	c.426 others(36): Show c.426+606_426+607insAAAAAAAAAAAAAAAAAAAAA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116917489	C C	CCTCGTGA others(14): Show CCTCGTGATCCGCCCACCTCAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0111 a0001c0001t0015g0111	1	354	0.0028	21	c.721 others(36): Show c.721-236_721-216dupTCGTGATCCGCCCACCTCAGC	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19416860	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	364	0.0028	21	c.93+ others(36): Show c.93+2780_93+2800dupTTTTTTTTTTTTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	3022935	A A	ATATTTAT others(14): Show ATATTTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0300 a0001c0029t0001g0300	1	322	0.0031	21	c.-12 others(42): Show c.-126+20731_-126+20732insATATATATATATATATAAATA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar

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