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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
CACNA2D1_chr7_81941444_82448777	82217390	C C	CACATACA others(13): Show CACATACAGATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	144	0.0069	20	c.295 others(39): Show c.295-46782_295-46781insATATATATATATCTGTATGT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217394	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01071.hp2 others(7): Show HG00621.hp1 HG00735.hp2 HG01071.hp2 HG02109.hp2 HG02148.hp1 HG02717.hp2 HG02970.hp1 HG03453.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0019 a0001c0003t0001	a0001c0001t0001g0038 a0001c0001t0004g0079 a0001c0001t0005g0126 others(7): Show a0001c0001t0001g0038 a0001c0001t0004g0079 a0001c0001t0005g0126 a0001c0001t0007g0015 a0001c0001t0009g0065 a0001c0001t0011g0066 a0001c0002t0001g0045 a0001c0002t0002g0128 a0001c0002t0019g0107 a0001c0003t0001g0061	10	144	0.0694	20	c.295 others(39): Show c.295-46805_295-46786dupATATATATATATATATATAT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82229686	T T	TTTTTATT others(13): Show TTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02683.hp1 HG01192.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0139 a0001c0002t0001g0030 a0001c0001t0005g0139 a0001c0002t0001g0030	2	144	0.0139	20	c.295 others(39): Show c.295-59097_295-59078dupTAAAATAAAATAAAATAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82320929	T T	TTATATAA others(13): Show TTATATAAAGCCATTTATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00639.hp1 others(97): Show HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18952.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp1 NA19002.hp1 NA19002.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0019 a0001c0003t0001 a0001c0003t0002 a0001c0004t0003 a0001c0004t0006 a0001c0006t0013 a0002c0005t0002	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0037 others(97): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0103 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0016 a0001c0001t0003g0034 a0001c0001t0003g0039 a0001c0001t0003g0051 a0001c0001t0003g0062 a0001c0001t0003g0067 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0004g0002 a0001c0001t0004g0029 a0001c0001t0004g0042 a0001c0001t0004g0046 a0001c0001t0004g0050 a0001c0001t0004g0053 a0001c0001t0004g0071 a0001c0001t0004g0074 a0001c0001t0004g0079 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0110 a0001c0001t0005g0123 a0001c0001t0005g0126 a0001c0001t0005g0136 a0001c0001t0006g0093 a0001c0001t0006g0098 a0001c0001t0006g0112 a0001c0001t0006g0121 a0001c0001t0006g0125 a0001c0001t0006g0138 a0001c0001t0007g0015 a0001c0001t0007g0020 a0001c0001t0007g0078 a0001c0001t0007g0081 a0001c0001t0007g0084 a0001c0001t0007g0085 a0001c0001t0008g0023 a0001c0001t0008g0043 a0001c0001t0008g0083 a0001c0001t0009g0027 a0001c0001t0009g0065 a0001c0001t0009g0080 a0001c0001t0011g0028 a0001c0001t0011g0066 a0001c0001t0012g0102 a0001c0001t0012g0127 a0001c0001t0014g0048 a0001c0001t0016g0019 a0001c0001t0017g0091 a0001c0001t0018g0135 a0001c0001t0020g0114 a0001c0001t0021g0113 a0001c0001t0022g0117 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0026 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0040 a0001c0002t0001g0045 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0002g0108 a0001c0002t0002g0116 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0010g0090 a0001c0002t0019g0107 a0001c0003t0001g0011 a0001c0003t0001g0025 a0001c0003t0001g0061 a0001c0003t0001g0072 a0001c0003t0002g0137 a0001c0004t0003g0082 a0001c0004t0006g0104 a0001c0006t0013g0069 a0002c0005t0002g0134	100	144	0.6944	20	c.294 others(39): Show c.294+14186_294+14205dupTATATAAATGGCTTTATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82366903	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp2 HG01975.hp2 others(6): Show HG01123.hp2 HG01192.hp2 HG01975.hp2 HG02683.hp1 HG03239.hp1 HG03834.hp2 HG04115.hp2 NA18906.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002	a0001c0001t0004g0022 a0001c0001t0005g0096 a0001c0001t0005g0111 others(6): Show a0001c0001t0004g0022 a0001c0001t0005g0096 a0001c0001t0005g0111 a0001c0001t0005g0139 a0001c0001t0006g0118 a0001c0001t0006g0142 a0001c0002t0001g0030 a0001c0002t0001g0055 a0001c0002t0002g0095	9	144	0.0625	20	c.96- others(37): Show c.96-17274_96-17255dupAAAAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82370572	T T	TGGATGGA others(13): Show TGGATGGATGGATGGACGGAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	144	0.0069	20	c.96- others(37): Show c.96-20924_96-20923insGTCCGTCCATCCATCCATCC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82370572	T T	TGGATGGA others(13): Show TGGATGGATGGATGGATGGAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01258.hp2 HG01069.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0046 a0001c0002t0001g0033 a0001c0001t0004g0046 a0001c0002t0001g0033	2	144	0.0139	20	c.96- others(37): Show c.96-20924_96-20923insGTCCATCCATCCATCCATCC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82393031	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01496.hp1 HG01258.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0005 a0001c0002t0002g0119 a0001c0001t0003g0005 a0001c0002t0002g0119	2	144	0.0139	20	c.96- others(37): Show c.96-43402_96-43383dupTCCTTCCTTCCTTCCTTCCT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82432037	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0015 a0001c0001t0007g0015	1	144	0.0069	20	c.95+ others(37): Show c.95+11308_95+11327dupTTTTTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D2_chr3_50357613_50508634	50470369	A A	AAGGGGTG others(13): Show AAGGGGTGGCCAACATGAGCC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0017 a0001c0001t0007g0017	1	234	0.0043	20	c.288 others(37): Show c.288+5729_288+5748dupGGCTCATGTTGGCCACCCCT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	2/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54141061	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02300.hp2 NA18951.hp2 HG00438.hp1 HG02300.hp2 NA18951.hp2	a0001 a0001	a0001c0009 a0001c0011 a0001c0015 a0001c0009 a0001c0011 a0001c0015	a0001c0009t0008 a0001c0011t0001 a0001c0015t0001 a0001c0009t0008 a0001c0011t0001 a0001c0015t0001	a0001c0009t0008g0077 a0001c0011t0001g0109 a0001c0015t0001g0108 a0001c0009t0008g0077 a0001c0011t0001g0109 a0001c0015t0001g0108	3	118	0.0254	20	c.204 others(39): Show c.204+17474_204+17493dupTGTGTGTGTGTGTGTGTGTG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54141086	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG06807.hp2 HG02717.hp2 HG06807.hp2	a0001 a0001	a0001c0030 a0001c0039 a0001c0030 a0001c0039	a0001c0030t0001 a0001c0039t0001 a0001c0030t0001 a0001c0039t0001	a0001c0030t0001g0028 a0001c0039t0001g0047 a0001c0030t0001g0028 a0001c0039t0001g0047	2	118	0.0170	20	c.204 others(39): Show c.204+17493_204+17494insTGTGTGTGTGTGTGTGCGCG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54141086	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	118	0.0085	20	c.204 others(39): Show c.204+17493_204+17494insTGTGTGTGTGTGTGTGTGCG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54149928	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0041 a0001c0022t0001g0041	1	118	0.0085	20	c.204 others(39): Show c.204+26337_204+26338insTCTCTCTCCCTCCCTCCCTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54149928	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0074 a0001c0008t0001g0074	1	118	0.0085	20	c.204 others(39): Show c.204+26337_204+26338insTCTCTCTCTCTCTCTCCCTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54171136	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG02300.hp1 others(2): Show HG00099.hp2 HG00423.hp2 HG02300.hp1 HG02970.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0035 a0001c0002t0001g0115 a0001c0002t0002g0066 others(2): Show a0001c0001t0001g0035 a0001c0002t0001g0115 a0001c0002t0002g0066 a0001c0002t0002g0091 a0001c0003t0001g0112	5	118	0.0424	20	c.204 others(39): Show c.204+47545_204+47564dupTTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54247312	T T	TCAAACAA others(13): Show TCAAACAAACAAACAAACAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01106.hp1 HG01255.hp2 HG00280.hp1 HG01106.hp1 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0015 a0001c0002 a0001c0004 a0001c0015	a0001c0002t0004 a0001c0004t0002 a0001c0015t0001 a0001c0002t0004 a0001c0004t0002 a0001c0015t0001	a0001c0002t0004g0001 a0001c0004t0002g0008 a0001c0015t0001g0072 a0001c0002t0004g0001 a0001c0004t0002g0008 a0001c0015t0001g0072	3	118	0.0254	20	c.205 others(39): Show c.205-73129_205-73110dupCAAACAAACAAACAAACAAA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54252100	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	118	0.0085	20	c.205 others(39): Show c.205-68328_205-68327insTTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54338467	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0052 a0001c0005t0001g0052	1	118	0.0085	20	c.321 others(39): Show c.321+17935_321+17954dupGTGTGTGTGTGTGTGTGTGT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54475809	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp2 HG01192.hp2 others(24): Show HG00280.hp1 HG00673.hp2 HG01192.hp2 HG01243.hp2 HG01934.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02615.hp2 HG02717.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG04115.hp1 NA18906.hp2 NA19043.hp2 NA19068.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0019 a0001c0024 a0001c0025 a0001c0032 a0001c0036 a0001c0039	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0005t0003 a0001c0006t0007 a0001c0009t0008 a0001c0010t0006 a0001c0012t0011 a0001c0013t0001 a0001c0014t0001 a0001c0015t0001 a0001c0019t0001 a0001c0024t0001 a0001c0025t0004 a0001c0032t0001 a0001c0036t0005 a0001c0039t0001	a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 others(24): Show a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0003g0058 a0001c0001t0012g0063 a0001c0002t0001g0070 a0001c0003t0001g0011 a0001c0003t0001g0026 a0001c0003t0001g0038 a0001c0003t0001g0042 a0001c0003t0001g0094 a0001c0005t0001g0052 a0001c0005t0003g0055 a0001c0006t0007g0098 a0001c0009t0008g0077 a0001c0010t0006g0062 a0001c0012t0011g0036 a0001c0013t0001g0093 a0001c0014t0001g0071 a0001c0014t0001g0102 a0001c0015t0001g0072 a0001c0019t0001g0075 a0001c0024t0001g0069 a0001c0025t0004g0106 a0001c0032t0001g0048 a0001c0036t0005g0002 a0001c0039t0001g0047	27	118	0.2288	20	c.382 others(39): Show c.382-27674_382-27655dupTGTGTGTGTGTGTGTGTGTG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54500504	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTATCTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18906.hp1 HG00423.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0034 a0001c0006t0001g0009 a0001c0001t0001g0034 a0001c0006t0001g0009	2	118	0.0170	20	c.382 others(37): Show c.382-2974_382-2973insATCTTCCTTCCTTCCTTCCT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54500504	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp1 HG02965.hp2 HG02976.hp1	a0001 a0001	a0001c0013 a0001c0037 a0001c0013 a0001c0037	a0001c0013t0001 a0001c0037t0004 a0001c0013t0001 a0001c0037t0004	a0001c0013t0001g0105 a0001c0037t0004g0019 a0001c0013t0001g0105 a0001c0037t0004g0019	2	118	0.0170	20	c.382 others(37): Show c.382-2956_382-2937dupCCTTCCTTCCTTCCTTCCTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54631203	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02622.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0003 a0001c0001t0001 a0001c0010t0003	a0001c0001t0001g0061 a0001c0010t0003g0057 a0001c0001t0001g0061 a0001c0010t0003g0057	2	118	0.0170	20	c.105 others(39): Show c.1053+3341_1053+3360dupCACACACACACACACACACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	10/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54646194	G G	GCTTCCTT others(13): Show GCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0041 a0001c0022t0001g0041	1	118	0.0085	20	c.116 others(39): Show c.1167+3988_1167+4007dupTCCTTCCTTCCTTCCTTCCT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54821697	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18979.hp1 HG03225.hp2 NA18979.hp1	a0001 a0001	a0001c0004 a0001c0024 a0001c0004 a0001c0024	a0001c0004t0001 a0001c0024t0001 a0001c0004t0001 a0001c0024t0001	a0001c0004t0001g0031 a0001c0024t0001g0069 a0001c0004t0001g0031 a0001c0024t0001g0069	2	118	0.0170	20	c.139 others(39): Show c.1398+4830_1398+4831insTTTCTTTCCTTCCTTCCTTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54821697	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	118	0.0085	20	c.139 others(39): Show c.1398+4830_1398+4831insTTTCTTTCTTTCCTTCCTTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTCTTT others(13): Show CTTTCTTTCTTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0074 a0001c0008t0001g0074	1	118	0.0085	20	c.139 others(39): Show c.1398+5920_1398+5921insTTTCTTTCTTTCCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822832	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0090 a0001c0028t0001g0090	1	118	0.0085	20	c.139 others(39): Show c.1398+5964_1398+5965insCTTTCTTTCTTTCTTTTCTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54883799	A A	ATCTCTCT others(13): Show ATCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02080.hp1 HG02080.hp2 others(6): Show HG00423.hp1 HG02080.hp1 HG02080.hp2 HG04115.hp2 HG04204.hp1 NA19068.hp1 NA19068.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0011 a0001c0019 a0001c0033	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0011t0001 a0001c0019t0001 a0001c0033t0001	a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0003t0001g0026 others(6): Show a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0003t0001g0026 a0001c0003t0001g0101 a0001c0004t0001g0007 a0001c0006t0001g0009 a0001c0011t0001g0099 a0001c0019t0001g0075 a0001c0033t0001g0114	9	118	0.0763	20	c.191 others(39): Show c.1913-1477_1913-1458dupTCTCTCTCTCTCTCTCTCTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	21/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54886164	C C	CACAGTAT others(13): Show CACAGTATAGCTCCAGTAGCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(102): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG01070.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp1 NA18951.hp2 NA18979.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19068.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(39): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0002c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0001c0006t0007 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0009t0008 a0001c0010t0001 a0001c0010t0003 a0001c0010t0006 a0001c0011t0001 a0001c0011t0006 a0001c0012t0011 a0001c0013t0001 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0021t0002 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0004 a0001c0026t0009 a0001c0027t0001 a0001c0028t0001 a0001c0029t0001 a0001c0030t0001 a0001c0031t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0005 a0001c0037t0004 a0001c0038t0010 a0001c0039t0001 a0001c0040t0001 a0001c0041t0001 a0001c0042t0001 a0001c0043t0001 a0002c0020t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0016 others(102): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0002g0003 a0001c0001t0003g0058 a0001c0001t0012g0063 a0001c0002t0001g0004 a0001c0002t0001g0020 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0060 a0001c0002t0001g0070 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0115 a0001c0002t0002g0091 a0001c0002t0004g0001 a0001c0003t0001g0011 a0001c0003t0001g0026 a0001c0003t0001g0038 a0001c0003t0001g0042 a0001c0003t0001g0084 a0001c0003t0001g0094 a0001c0003t0001g0101 a0001c0003t0001g0112 a0001c0004t0001g0007 a0001c0004t0001g0022 a0001c0004t0001g0050 a0001c0004t0001g0095 a0001c0004t0002g0008 a0001c0005t0001g0005 a0001c0005t0001g0052 a0001c0005t0001g0088 a0001c0005t0001g0111 a0001c0005t0003g0055 a0001c0006t0001g0009 a0001c0006t0001g0017 a0001c0006t0007g0098 a0001c0007t0001g0043 a0001c0007t0001g0044 a0001c0007t0001g0067 a0001c0008t0001g0074 a0001c0008t0001g0092 a0001c0008t0001g0103 a0001c0009t0001g0013 a0001c0009t0008g0077 a0001c0010t0001g0065 a0001c0010t0003g0057 a0001c0010t0006g0062 a0001c0011t0001g0099 a0001c0011t0001g0109 a0001c0011t0006g0056 a0001c0012t0011g0036 a0001c0013t0001g0093 a0001c0013t0001g0105 a0001c0014t0001g0071 a0001c0014t0001g0102 a0001c0015t0001g0072 a0001c0015t0001g0108 a0001c0017t0001g0025 a0001c0018t0001g0076 a0001c0019t0001g0075 a0001c0021t0002g0023 a0001c0022t0001g0041 a0001c0023t0001g0018 a0001c0024t0001g0069 a0001c0025t0004g0106 a0001c0026t0009g0073 a0001c0027t0001g0014 a0001c0028t0001g0090 a0001c0029t0001g0096 a0001c0030t0001g0028 a0001c0031t0001g0032 a0001c0032t0001g0048 a0001c0033t0001g0114 a0001c0034t0001g0086 a0001c0035t0001g0049 a0001c0036t0005g0002 a0001c0037t0004g0019 a0001c0038t0010g0059 a0001c0039t0001g0047 a0001c0040t0001g0117 a0001c0041t0001g0085 a0001c0042t0001g0078 a0001c0043t0001g0051 a0002c0020t0001g0021	105	118	0.8898	20	c.205 others(37): Show c.2056+583_2056+584insATAGCTCCAGTAGCTACAGT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	23/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55008888	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG01106.hp2 others(2): Show HG00280.hp1 HG00438.hp2 HG01106.hp2 HG01169.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0009 others(1): Show a0001c0001 a0001c0008 a0001c0009 a0001c0015	a0001c0001t0001 a0001c0008t0001 a0001c0009t0001 others(2): Show a0001c0001t0001 a0001c0008t0001 a0001c0009t0001 a0001c0009t0008 a0001c0015t0001	a0001c0001t0001g0046 a0001c0008t0001g0074 a0001c0009t0001g0113 others(2): Show a0001c0001t0001g0046 a0001c0008t0001g0074 a0001c0009t0001g0113 a0001c0009t0008g0077 a0001c0015t0001g0072	5	118	0.0424	20	c.282 others(37): Show c.2820-482_2820-463dupCACACACACACACACACACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	33/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55019079	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp2 HG03041.hp2 others(4): Show HG02895.hp1 HG02922.hp2 HG03041.hp2 HG03471.hp2 HG03486.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0035	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0005t0001 a0001c0035t0001	a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0003g0058 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0003g0058 a0001c0003t0001g0038 a0001c0005t0001g0005 a0001c0005t0001g0052 a0001c0035t0001g0049	7	118	0.0593	20	c.298 others(37): Show c.2987+774_2987+793dupCTTTCTTTCTTTCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55022559	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	118	0.0085	20	c.298 others(39): Show c.2987+4253_2987+4254insTTTCCTTCCTTCTTTCTTTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55038864	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0043 a0001c0007t0001g0043	1	118	0.0085	20	c.298 others(41): Show c.2987+20572_2987+20591dupTATATATATATATATATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55067716	G G	GATACATA others(13): Show GATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0084	1	118	0.0085	20	c.298 others(39): Show c.2988-5717_2988-5698dupCATACATACATACATACATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18137084	C C	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA20805.hp1 NA18984.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0171 a0001c0001t0003g0044 a0001c0001t0001g0171 a0001c0001t0003g0044	2	200	0.0100	20	c.-36 others(31): Show c.-3653_-3652insTCCTTCCTTCCTTCCTTCCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding		3339		chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp2 HG01981.hp2 NA18989.hp1 HG00438.hp2 HG01981.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0011 a0001c0002t0058 a0001c0001t0009 a0001c0001t0011 a0001c0002t0058	a0001c0001t0009g0160 a0001c0001t0011g0055 a0001c0002t0058g0159 a0001c0001t0009g0160 a0001c0001t0011g0055 a0001c0002t0058g0159	3	200	0.0150	20	c.121 others(32): Show c.121-22_121-3dupTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18172924	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01978.hp1 HG01891.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0030 a0001c0001t0001 a0001c0002t0030	a0001c0001t0001g0032 a0001c0002t0030g0046 a0001c0001t0001g0032 a0001c0002t0030g0046	2	200	0.0100	20	c.213 others(39): Show c.213+21964_213+21965insTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18181562	T T	TTTTTATT others(13): Show TTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0056 a0001c0001t0031g0056	1	200	0.0050	20	c.213 others(39): Show c.213+30637_213+30656dupATTTTATTTTATTTTATTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18288676	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02559.hp2 NA18981.hp1 others(1): Show HG02148.hp1 HG02559.hp2 NA18981.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0036 a0001c0002t0005 a0001c0001t0001 a0001c0001t0036 a0001c0002t0005	a0001c0001t0001g0099 a0001c0001t0001g0123 a0001c0001t0036g0176 others(1): Show a0001c0001t0001g0099 a0001c0001t0001g0123 a0001c0001t0036g0176 a0001c0002t0005g0097	4	200	0.0200	20	c.214 others(41): Show c.214-113238_214-113219dupCACACACACACACACACACA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18307983	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02572.hp1 HG02572.hp2 others(3): Show HG00423.hp1 HG02572.hp1 HG02572.hp2 HG02886.hp2 HG02896.hp1 NA18989.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0008 a0001c0001t0048 a0001c0002t0005 others(3): Show a0001c0001t0008 a0001c0001t0048 a0001c0002t0005 a0001c0002t0058 a0001c0004t0038 a0002c0003t0052	a0001c0001t0008g0083 a0001c0001t0048g0195 a0001c0002t0005g0118 others(3): Show a0001c0001t0008g0083 a0001c0001t0048g0195 a0001c0002t0005g0118 a0001c0002t0058g0159 a0001c0004t0038g0139 a0002c0003t0052g0024	6	200	0.0300	20	c.214 others(39): Show c.214-93933_214-93914dupTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18325689	C C	CCCTCCCT others(13): Show CCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01943.hp1 NA18989.hp1 HG00423.hp1 HG01943.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0005 a0001c0002t0058 a0001c0001t0003 a0001c0002t0005 a0001c0002t0058	a0001c0001t0003g0047 a0001c0002t0005g0118 a0001c0002t0058g0159 a0001c0001t0003g0047 a0001c0002t0005g0118 a0001c0002t0058g0159	3	200	0.0150	20	c.214 others(39): Show c.214-76232_214-76231insCCCTTCCTTCCTTCCTTCCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18356938	A A	ATGTCTTT others(13): Show ATGTCTTTTTTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	200	0.0050	20	c.214 others(39): Show c.214-44985_214-44984insGTCTTTTTTTTTTCTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18442956	A A	ACGTATAT others(13): Show ACGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	200	0.0050	20	c.333 others(39): Show c.333+40913_333+40914insCGTATATATATATATATATG	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13			chr10	TogoVar
CACNB2_chr10_18135424_18548557	18464418	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01993.hp1 others(2): Show HG01257.hp2 HG01258.hp2 HG01993.hp1 HG02040.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0023 a0001c0001t0001 a0001c0001t0004 a0001c0001t0023	a0001c0001t0001g0171 a0001c0001t0001g0190 a0001c0001t0004g0152 others(2): Show a0001c0001t0001g0171 a0001c0001t0001g0190 a0001c0001t0004g0152 a0001c0001t0023g0191 a0001c0001t0023g0192	5	200	0.0250	20	c.334 others(39): Show c.334-33934_334-33915dupAAAAAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18481192	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0068 a0001c0002t0034g0068	1	200	0.0050	20	c.334 others(39): Show c.334-17143_334-17124dupATATATATATATATATATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18536243	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0128 a0001c0001t0045g0128	1	200	0.0050	20	c.130 others(35): Show c.1302+58_1302+77dupTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18356938	A A	ATGTCTTT others(13): Show ATGTCTTTTTTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0294	1	302	0.0033	20	c.51+ others(37): Show c.51+15962_51+15963insGTCTTTTTTTTTTCTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18407109	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	302	0.0033	20	c.171 others(37): Show c.171+5078_171+5097dupTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18442956	A A	ACGTATAT others(13): Show ACGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	302	0.0033	20	c.171 others(39): Show c.171+40913_171+40914insCGTATATATATATATATATG	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12			chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)