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	status	chr	external
CACNA2D1_chr7_81941444_82448777	82186189	A A	AAGGGAGG others(9): Show AAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0024 a0001c0004t0008g0024	1	144	0.0069	16	c.295 others(35): Show c.295-15596_295-15581dupCCCTCCCTCCCTCCCT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38		chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82186231	G G	GAAGGAAG others(9): Show GAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01261.hp1 HG02080.hp1 others(10): Show HG00621.hp2 HG01261.hp1 HG02080.hp1 HG02572.hp2 HG02738.hp1 HG02809.hp1 HG03239.hp1 HG03834.hp2 NA18522.hp2 NA18961.hp2 NA18986.hp1 NA18995.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0002t0001 a0001c0003t0002 a0001c0004t0003	a0001c0001t0003g0008 a0001c0001t0003g0039 a0001c0001t0003g0052 others(10): Show a0001c0001t0003g0008 a0001c0001t0003g0039 a0001c0001t0003g0052 a0001c0001t0004g0031 a0001c0001t0005g0096 a0001c0001t0006g0093 a0001c0001t0006g0115 a0001c0001t0006g0124 a0001c0001t0006g0142 a0001c0001t0015g0006 a0001c0002t0001g0017 a0001c0003t0002g0137 a0001c0004t0003g0082	13	144	0.0903	16	c.295 others(35): Show c.295-15623_295-15622insTCTTCCTTCCTTCCTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38		chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82186255	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01891.hp1 others(2): Show HG01069.hp2 HG01071.hp1 HG01891.hp1 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001	a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0007g0015 others(2): Show a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0007g0015 a0001c0002t0001g0018 a0001c0002t0001g0040	5	144	0.0347	16	c.295 others(35): Show c.295-15662_295-15647dupCCTTCCTTCCTTCCTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38		chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217394	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02080.hp2 HG02630.hp1 others(7): Show HG01891.hp1 HG02080.hp2 HG02630.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02970.hp2 HG03225.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0058 a0001c0001t0005g0136 a0001c0001t0007g0020 others(7): Show a0001c0001t0001g0058 a0001c0001t0005g0136 a0001c0001t0007g0020 a0001c0001t0007g0078 a0001c0001t0012g0127 a0001c0002t0001g0018 a0001c0002t0002g0116 a0001c0002t0010g0090 a0001c0003t0001g0025 a0001c0003t0002g0137	10	144	0.0694	16	c.295 others(35): Show c.295-46801_295-46786dupATATATATATATATAT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38		chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217910	A A	ATTATTTA others(9): Show ATTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG01891.hp2 others(8): Show HG01074.hp1 HG01884.hp2 HG01891.hp2 HG02027.hp1 HG02738.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG04184.hp2 NA18952.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0005	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(6): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0023 a0001c0002t0010 a0001c0008t0001 a0002c0005t0002	a0001c0001t0003g0062 a0001c0001t0003g0086 a0001c0001t0006g0098 others(8): Show a0001c0001t0003g0062 a0001c0001t0003g0086 a0001c0001t0006g0098 a0001c0001t0007g0078 a0001c0001t0007g0085 a0001c0001t0010g0089 a0001c0001t0014g0048 a0001c0001t0023g0144 a0001c0002t0010g0090 a0001c0008t0001g0004 a0002c0005t0002g0134	11	144	0.0764	16	c.295 others(35): Show c.295-47317_295-47302dupATAAATAAATAAATAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38		chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82274855	T T	TATGAATG others(9): Show TATGAATGAATGAATGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0075 a0001c0007t0003g0075	1	144	0.0069	16	c.294 others(35): Show c.294+60264_294+60279dupTCATTCATTCATTCAT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38		chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82332508	T T	TAGAAAGA others(9): Show TAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0106 a0001c0001t0005g0106	1	144	0.0069	16	c.294 others(33): Show c.294+2626_294+2627insTTCTTTCTTTCTTTCT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38		chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82332510	T T	TAAAGAAA others(9): Show TAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01496.hp1 NA18522.hp2 others(3): Show HG00639.hp1 HG01496.hp1 NA18522.hp2 NA18960.hp2 NA19057.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0004t0003	a0001c0001t0003g0003 a0001c0001t0006g0125 a0001c0001t0010g0089 others(3): Show a0001c0001t0003g0003 a0001c0001t0006g0125 a0001c0001t0010g0089 a0001c0002t0001g0054 a0001c0002t0002g0119 a0001c0004t0003g0082	6	144	0.0417	16	c.294 others(33): Show c.294+2609_294+2624dupCTTTCTTTCTTTCTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38		chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82366903	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	144	0.0069	16	c.96- others(33): Show c.96-17270_96-17255dupAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38		chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82370548	G G	GGGATGGA others(9): Show GGGATGGATGGATGGAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0118 a0001c0001t0006g0118	1	144	0.0069	16	c.96- others(33): Show c.96-20915_96-20900dupATCCATCCATCCATCC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38		chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82370572	T T	TGGATGGA others(9): Show TGGATGGATGGATGGAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG01169.hp1 others(32): Show HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01884.hp2 HG02257.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18952.hp2 NA18968.hp2 NA19060.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0003t0002 a0001c0007t0003 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0058 a0001c0001t0002g0129 a0001c0001t0003g0062 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0031 a0001c0001t0004g0079 a0001c0001t0005g0096 a0001c0001t0005g0111 a0001c0001t0005g0126 a0001c0001t0005g0139 a0001c0001t0006g0142 a0001c0001t0007g0060 a0001c0001t0007g0078 a0001c0001t0007g0085 a0001c0001t0009g0080 a0001c0001t0012g0127 a0001c0002t0001g0017 a0001c0002t0001g0030 a0001c0002t0001g0055 a0001c0002t0002g0095 a0001c0002t0002g0108 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0010g0092 a0001c0003t0001g0061 a0001c0003t0001g0072 a0001c0003t0002g0137 a0001c0007t0003g0075 a0001c0008t0001g0004	35	144	0.2431	16	c.96- others(33): Show c.96-20924_96-20923insGTCCATCCATCCATCC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38		chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82393031	G G	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp2 HG06807.hp1 others(1): Show HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0002t0001	a0001c0001t0004g0021 a0001c0001t0005g0099 a0001c0001t0014g0048 others(1): Show a0001c0001t0004g0021 a0001c0001t0005g0099 a0001c0001t0014g0048 a0001c0002t0001g0040	4	144	0.0278	16	c.96- others(33): Show c.96-43398_96-43383dupTCCTTCCTTCCTTCCT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38		chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82393083	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03579.hp2 HG02895.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0076 a0001c0001t0011g0028 a0001c0001t0003g0076 a0001c0001t0011g0028	2	144	0.0139	16	c.96- others(33): Show c.96-43435_96-43434insGCCTTCCTTCCTTCCT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38		chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82411895	T T	TCTCACAC others(9): Show TCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01261.hp1 HG02080.hp1 others(5): Show HG01258.hp1 HG01261.hp1 HG02080.hp1 HG04115.hp1 NA18952.hp2 NA19007.hp1 NA19057.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0003g0005 others(5): Show a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0004g0002 a0001c0001t0015g0006 a0001c0008t0001g0004	8	144	0.0556	16	c.95+ others(33): Show c.95+31469_95+31470insTGTGTGTGTGTGTGAG	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38		chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82432037	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02257.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0013 a0001c0003t0001g0011 a0001c0001t0003g0013 a0001c0003t0001g0011	2	144	0.0139	16	c.95+ others(33): Show c.95+11312_95+11327dupTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38		chr7	TogoVar
CACNA2D2_chr3_50357613_50508634	50468380	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18941.hp1 NA19005.hp2 HG02074.hp1 NA18941.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0027 a0001c0001t0002 a0001c0001t0004 a0001c0001t0027	a0001c0001t0002g0215 a0001c0001t0004g0164 a0001c0001t0027g0187 a0001c0001t0002g0215 a0001c0001t0004g0164 a0001c0001t0027g0187	3	234	0.0128	16	c.288 others(33): Show c.288+7722_288+7737dupACACACACACACACAC	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	2/37		chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54141061	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0014 a0001c0027t0001g0014	1	118	0.0085	16	c.204 others(35): Show c.204+17478_204+17493dupTGTGTGTGTGTGTGTG	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(9): Show TGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0088 a0001c0005t0001g0088	1	118	0.0085	16	c.204 others(35): Show c.204+17493_204+17494insTGTGTGTGTGTGCGCG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54141104	T T	TGTGTGTG others(9): Show TGTGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	118	0.0085	16	c.204 others(35): Show c.204+17511_204+17512insTGTGTGCGCGCGCGCG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54149267	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0042 a0001c0003t0001g0042	1	118	0.0085	16	c.204 others(35): Show c.204+25690_204+25705dupCACACACACACACACA	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(9): Show TCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0011 a0001c0012t0011	a0001c0012t0011g0036 a0001c0012t0011g0036	1	118	0.0085	16	c.204 others(35): Show c.204+26337_204+26338insTCTCTCTCTCTCCCTC	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(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0101 a0001c0003t0001g0101	1	118	0.0085	16	c.204 others(35): Show c.204+47549_204+47564dupTTTTTTTTTTTTTTTT	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(9): Show TCAAACAAACAAACAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03239.hp1 HG01255.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0011t0006 a0001c0002t0001 a0001c0011t0006	a0001c0002t0001g0012 a0001c0011t0006g0056 a0001c0002t0001g0012 a0001c0011t0006g0056	2	118	0.0170	16	c.205 others(35): Show c.205-73125_205-73110dupCAAACAAACAAACAAA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54249558	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	118	0.0085	16	c.205 others(35): Show c.205-70869_205-70854dupACACACACACACACAC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54280068	G G	GTTTATTT others(9): Show GTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	118	0.0085	16	c.205 others(35): Show c.205-40358_205-40343dupATTTATTTATTTATTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54309740	G G	GGAAGTTC others(9): Show GGAAGTTCTTAAAAGCA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	118	0.0085	16	c.205 others(35): Show c.205-10701_205-10686dupGAAGTTCTTAAAAGCA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54319157	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03453.hp1 HG02572.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0037 a0001c0005t0001g0088 a0001c0001t0001g0037 a0001c0005t0001g0088	2	118	0.0170	16	c.205 others(33): Show c.205-1256_205-1241dupACACACACACACACAC	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(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	118	0.0085	16	c.321 others(35): Show c.321+17939_321+17954dupGTGTGTGTGTGTGTGT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54387658	A A	ATAAGTAA others(9): Show ATAAGTAAGTAAGTAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 NA19043.hp1 HG02109.hp1 HG02615.hp2 NA19043.hp1	a0001 a0001	a0001c0012 a0001c0035 a0001c0036 a0001c0012 a0001c0035 a0001c0036	a0001c0012t0011 a0001c0035t0001 a0001c0036t0005 a0001c0012t0011 a0001c0035t0001 a0001c0036t0005	a0001c0012t0011g0036 a0001c0035t0001g0049 a0001c0036t0005g0002 a0001c0012t0011g0036 a0001c0035t0001g0049 a0001c0036t0005g0002	3	118	0.0254	16	c.381 others(31): Show c.381+896_381+911dupGTAAGTAAGTAAGTAA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54475809	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01255.hp1 HG01884.hp2 others(11): Show HG01169.hp2 HG01255.hp1 HG01884.hp2 HG01934.hp2 HG02572.hp1 HG02965.hp2 HG02970.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG06807.hp2 NA18906.hp1 NA18951.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0015 a0001c0028 a0001c0030	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0006 a0001c0013t0001 a0001c0015t0001 a0001c0028t0001 a0001c0030t0001	a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0089 others(11): Show a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0089 a0001c0002t0001g0012 a0001c0004t0001g0050 a0001c0005t0001g0088 a0001c0006t0001g0017 a0001c0009t0001g0013 a0001c0010t0001g0065 a0001c0011t0006g0056 a0001c0013t0001g0105 a0001c0015t0001g0108 a0001c0028t0001g0090 a0001c0030t0001g0028	14	118	0.1186	16	c.382 others(35): Show c.382-27670_382-27655dupTGTGTGTGTGTGTGTG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54500470	C C	CATCTTCC others(9): Show CATCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02258.hp2 HG02622.hp1 others(3): Show HG01192.hp1 HG02258.hp2 HG02622.hp1 HG02895.hp2 HG02970.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0001c0042 a0001c0043	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0001c0042t0001 a0001c0043t0001	a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0004t0001g0022 others(3): Show a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0004t0001g0022 a0001c0007t0001g0043 a0001c0042t0001g0078 a0001c0043t0001g0051	6	118	0.0509	16	c.382 others(33): Show c.382-2989_382-2974dupATCTTCCTTCCTTCCT	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(9): Show TCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02280.hp2 others(4): Show HG01884.hp1 HG02109.hp1 HG02280.hp2 HG03195.hp2 HG03453.hp1 HG03453.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0012t0011	a0001c0001t0001g0068 a0001c0002t0001g0039 a0001c0004t0001g0095 others(4): Show a0001c0001t0001g0068 a0001c0002t0001g0039 a0001c0004t0001g0095 a0001c0005t0001g0088 a0001c0007t0001g0067 a0001c0008t0001g0103 a0001c0012t0011g0036	7	118	0.0593	16	c.382 others(33): Show c.382-2952_382-2937dupCCTTCCTTCCTTCCTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54522929	T T	TTTACTTA others(9): Show TTTACTTACTTACTTAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18522.hp1 HG03195.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0104 a0001c0001t0001g0016 a0001c0001t0001g0104	2	118	0.0170	16	c.544 others(35): Show c.544+19278_544+19279insCTTACTTACTTACTTA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	5/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54522933	T T	TTTATTTA others(9): Show TTTATTTATTTACTTAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0010 a0001c0038t0010	a0001c0038t0010g0059 a0001c0038t0010g0059	1	118	0.0085	16	c.544 others(35): Show c.544+19282_544+19283insTTTATTTACTTACTTA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	5/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54554870	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0088 a0001c0005t0001g0088	1	118	0.0085	16	c.545 others(33): Show c.545-7924_545-7909dupTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	5/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54618374	T T	TATATATA others(9): Show TATATATATGCACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0078 a0001c0042t0001g0078	1	118	0.0085	16	c.964 others(33): Show c.964-9413_964-9412insATATATATGCACACAC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	9/37		chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54618375	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02965.hp2 HG02615.hp2 HG02965.hp2	a0001 a0001	a0001c0013 a0001c0036 a0001c0013 a0001c0036	a0001c0013t0001 a0001c0036t0005 a0001c0013t0001 a0001c0036t0005	a0001c0013t0001g0105 a0001c0036t0005g0002 a0001c0013t0001g0105 a0001c0036t0005g0002	2	118	0.0170	16	c.964 others(33): Show c.964-9389_964-9374dupCACACACACACACACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	9/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54631203	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0004 a0001c0037t0004	a0001c0037t0004g0019 a0001c0037t0004g0019	1	118	0.0085	16	c.105 others(35): Show c.1053+3345_1053+3360dupCACACACACACACACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	10/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54646148	T T	TTCCCTCC others(9): Show TTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp2 HG01884.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0001 a0001c0001t0003 a0001c0008t0001	a0001c0001t0003g0058 a0001c0008t0001g0103 a0001c0001t0003g0058 a0001c0008t0001g0103	2	118	0.0170	16	c.116 others(35): Show c.1167+3931_1167+3946dupCTCCCTCCCTCCCTCC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54646186	C C	CCCTCCCT others(9): Show CCCTCCCTGCTTGCTTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0088 a0001c0005t0001g0088	1	118	0.0085	16	c.116 others(35): Show c.1167+3946_1167+3947insCTCCCTGCTTGCTTGC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54650201	T T	TTTTGTTT others(9): Show TTTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02922.hp1 HG02976.hp2 HG02895.hp2 HG02922.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0032 a0001c0001 a0001c0007 a0001c0032	a0001c0001t0001 a0001c0007t0001 a0001c0032t0001 a0001c0001t0001 a0001c0007t0001 a0001c0032t0001	a0001c0001t0001g0045 a0001c0007t0001g0044 a0001c0032t0001g0048 a0001c0001t0001g0045 a0001c0007t0001g0044 a0001c0032t0001g0048	3	118	0.0254	16	c.116 others(35): Show c.1167+7961_1167+7976dupTTTGTTTGTTTGTTTG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54736102	T T	TATATGTA others(9): Show TATATGTATATATATAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0001 a0001c0043t0001	a0001c0043t0001g0051 a0001c0043t0001g0051	1	118	0.0085	16	c.116 others(37): Show c.1168-16493_1168-16492insGTATATATATACATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54809311	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02615.hp2 HG02717.hp2 HG01169.hp2 HG02615.hp2 HG02717.hp2	a0001 a0001	a0001c0010 a0001c0036 a0001c0039 a0001c0010 a0001c0036 a0001c0039	a0001c0010t0001 a0001c0036t0005 a0001c0039t0001 a0001c0010t0001 a0001c0036t0005 a0001c0039t0001	a0001c0010t0001g0065 a0001c0036t0005g0002 a0001c0039t0001g0047 a0001c0010t0001g0065 a0001c0036t0005g0002 a0001c0039t0001g0047	3	118	0.0254	16	c.138 others(35): Show c.1381-7539_1381-7524dupTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54821697	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	118	0.0085	16	c.139 others(35): Show c.1398+4842_1398+4843insCTTCCTTCCTTCCTTC	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(9): Show TTTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02895.hp1 HG04115.hp1 others(1): Show HG02300.hp1 HG02895.hp1 HG04115.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0012 a0001c0002 a0001c0003 a0001c0012	a0001c0002t0002 a0001c0003t0001 a0001c0012t0005 a0001c0002t0002 a0001c0003t0001 a0001c0012t0005	a0001c0002t0002g0066 a0001c0003t0001g0011 a0001c0003t0001g0038 others(1): Show a0001c0002t0002g0066 a0001c0003t0001g0011 a0001c0003t0001g0038 a0001c0012t0005g0027	4	118	0.0339	16	c.139 others(35): Show c.1398+4830_1398+4831insTTTCTTTCCTTCCTTC	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(9): Show TTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0043 a0001c0007t0001g0043	1	118	0.0085	16	c.139 others(35): Show c.1398+4830_1398+4831insTTTCTTTCTTTCCTTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0008 a0001c0004t0002g0008	1	118	0.0085	16	c.139 others(35): Show c.1398+5949_1398+5964dupCTTTCTTTCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTCCTT others(9): Show CTTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0009 a0001c0026t0009	a0001c0026t0009g0073 a0001c0026t0009g0073	1	118	0.0085	16	c.139 others(35): Show c.1398+5920_1398+5921insTTTCCTTTCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTCTTT others(9): Show CTTTCTTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18522.hp2 HG02965.hp2 NA18522.hp2	a0001 a0001	a0001c0013 a0001c0043 a0001c0013 a0001c0043	a0001c0013t0001 a0001c0043t0001 a0001c0013t0001 a0001c0043t0001	a0001c0013t0001g0105 a0001c0043t0001g0051 a0001c0013t0001g0105 a0001c0043t0001g0051	2	118	0.0170	16	c.139 others(35): Show c.1398+5920_1398+5921insTTTCTTTCCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTCTTT others(9): Show CTTTCTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	118	0.0085	16	c.139 others(35): Show c.1398+5920_1398+5921insTTTCTTTTCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		chr3	TogoVar

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