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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CABLES2_chr20_62383634_62412285	62398184	G G	GTGACGGT others(5): Show GTGACGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0075 a0001c0008t0005g0075	1	400	0.0025	12	c.363 others(29): Show c.363-1593_363-1592insTCACCACCGTCA		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9						chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398196	A A	ATGGTGGT others(5): Show ATGGTGGTGATGG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0107 a0008c0016t0001g0107	1	400	0.0025	12	c.363 others(29): Show c.363-1616_363-1605dupCCATCACCACCA		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9						chr20	TogoVar
CABP1_chr12_120635626_120672324	120636805	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00673.hp2 others(12): Show HG00597.hp1 HG00597.hp2 HG00673.hp2 HG01243.hp2 HG02083.hp1 HG02135.hp2 HG03516.hp2 NA18956.hp2 NA18978.hp1 NA18988.hp2 NA18991.hp2 NA18997.hp2 NA19060.hp2 NA19072.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(12): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0258	15	418	0.0359	12	c.-38 others(23): Show c.-3881_-3880insTTTTTTTTTTTT		CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding					3820		chr12	TogoVar
CABP1_chr12_120635626_120672324	120637247	G G	GTTTTTTT others(5): Show GTTTTTTTTTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00621.hp1 others(46): Show HG00408.hp1 HG00408.hp2 HG00621.hp1 HG00673.hp2 HG02004.hp1 HG02040.hp1 HG02071.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18944.hp2 NA18945.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18984.hp1 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp2 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(30): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0002g0249	49	418	0.1172	12	c.-34 others(23): Show c.-3439_-3438insTTTTTTTTTGTT		CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding					3378		chr12	TogoVar
CABP1_chr12_120635626_120672324	120637247	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	418	0.0024	12	c.-34 others(23): Show c.-3439_-3438insTTTTTTTTTTTT		CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding					3378		chr12	TogoVar
CABP1_chr12_120635626_120672324	120637250	T T	TTTTTTTG others(5): Show TTTTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	418	0.0024	12	c.-34 others(23): Show c.-3436_-3435insTTTTTTGTTTTG		CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding					3375		chr12	TogoVar
CABP1_chr12_120635626_120672324	120637253	T T	TTTTGTTT others(5): Show TTTTGTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02083.hp1 HG02258.hp1 others(19): Show HG01243.hp2 HG02083.hp1 HG02258.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG06807.hp1 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0085 others(17): Show a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0293	22	418	0.0526	12	c.-34 others(23): Show c.-3433_-3432insTTTGTTTTTTTG		CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding					3372		chr12	TogoVar
CABP1_chr12_120635626_120672324	120639250	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	418	0.0024	12	c.-14 others(23): Show c.-1436_-1435insTTTTTTTTTTTT		CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding					1375		chr12	TogoVar
CABP1_chr12_120635626_120672324	120642995	G G	GAAAAAAA others(5): Show GAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02300.hp1 HG02615.hp2 others(7): Show HG01928.hp1 HG02300.hp1 HG02615.hp2 HG02738.hp1 HG04184.hp2 NA18971.hp1 NA18972.hp1 NA18991.hp1 NA19000.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 others(7): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262	10	418	0.0239	12	c.654 others(29): Show c.654+1662_654+1673dupAAAAAAAAAAAA		CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
CABP1_chr12_120635626_120672324	120642995	G G	GGAAAAAA others(5): Show GGAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03098.hp1 HG03471.hp1 others(3): Show HG02280.hp2 HG03098.hp1 HG03471.hp1 NA18973.hp2 NA18997.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0225 a0001c0001t0001g0226 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228	6	418	0.0144	12	c.654 others(29): Show c.654+1656_654+1657insGAAAAAAAAAAA		CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding	1/5						chr12	TogoVar
CABP5_chr19_48024383_48049079	48029798	C C	CAGAGAGA others(5): Show CAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01069.hp2 others(12): Show HG00639.hp2 HG00642.hp1 HG01069.hp2 HG01167.hp1 HG01433.hp1 HG01517.hp1 HG02559.hp2 HG03486.hp2 HG03491.hp1 HG06807.hp1 NA18969.hp2 NA18983.hp1 NA18995.hp1 NA18999.hp2 NA19005.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0003 others(2): Show a0001c0001 a0001c0005 a0002c0003 a0002c0006 a0003c0004	a0001c0001t0012 a0001c0001t0044 a0001c0005t0030 others(4): Show a0001c0001t0012 a0001c0001t0044 a0001c0005t0030 a0002c0003t0016 a0002c0006t0055 a0003c0004t0012 a0003c0004t0065	a0001c0001t0012g0091 a0001c0001t0012g0092 a0001c0001t0044g0276 others(12): Show a0001c0001t0012g0091 a0001c0001t0012g0092 a0001c0001t0044g0276 a0001c0005t0030g0184 a0001c0005t0030g0187 a0002c0003t0016g0050 a0002c0003t0016g0069 a0002c0003t0016g0077 a0002c0003t0016g0181 a0002c0006t0055g0193 a0003c0004t0012g0046 a0003c0004t0012g0196 a0003c0004t0012g0197 a0003c0004t0012g0215 a0003c0004t0065g0205	15	376	0.0399	12	c.74 others(21): Show c.747_*758dupCTCTCTCTCTCT		CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6				758		chr19	TogoVar
CABP5_chr19_48024383_48049079	48029828	G G	GAGAGAGA others(5): Show GAGAGAGAGAGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0075 a0004c0007t0075	a0004c0007t0075g0224 a0004c0007t0075g0224	1	376	0.0027	12	c.72 others(21): Show c.728_*729insGTCTCTCTCTCT		CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6				728		chr19	TogoVar
CABP5_chr19_48024383_48049079	48037259	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp2 HG01261.hp2 others(24): Show HG01109.hp2 HG01255.hp2 HG01261.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02080.hp2 HG02165.hp1 HG02738.hp1 HG03688.hp1 HG04199.hp1 HG04204.hp2 NA18747.hp2 NA18940.hp1 NA18985.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp2 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0020 others(17): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0100 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0258 a0001c0001t0001g0292 a0001c0001t0003g0104 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0005g0121 a0001c0001t0011g0090 a0001c0001t0012g0091 a0001c0001t0020g0120	27	376	0.0718	12	c.348 others(29): Show c.348+1937_348+1948dupAAAAAAAAAAAA		CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	4/5						chr19	TogoVar
CABYR_chr18_24134062_24166600	24134257	G G	GTTGTTTT others(5): Show GTTGTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02622.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	2	408	0.0049	12	c.-48 others(23): Show c.-4886_-4885insTTGTTTTTTTTT		CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding					4804		chr18	TogoVar
CACHD1_chr1_64465129_64698053	64466140	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 NA20300.hp1 HG00639.hp1 HG00639.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0015 a0001c0003t0004 a0001c0001t0001 a0001c0001t0015 a0001c0003t0004	a0001c0001t0001g0161 a0001c0001t0015g0048 a0001c0003t0004g0146 a0001c0001t0001g0161 a0001c0001t0015g0048 a0001c0003t0004g0146	3	166	0.0181	12	c.-46 others(23): Show c.-4605_-4604insTGTGTGTGTGTG		CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding					3988		chr1	TogoVar
CACHD1_chr1_64465129_64698053	64500717	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01361.hp1 others(11): Show HG01109.hp1 HG01167.hp1 HG01361.hp1 HG02523.hp1 HG02523.hp2 HG02647.hp1 HG02738.hp2 HG02922.hp1 HG02965.hp1 HG03453.hp2 NA18955.hp2 NA19002.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0002t0002 a0001c0003t0002	a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0129 others(11): Show a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0142 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0006g0133 a0001c0001t0007g0122 a0001c0002t0002g0128 a0001c0002t0002g0137 a0001c0003t0002g0124 a0001c0003t0002g0139	14	166	0.0843	12	c.198 others(31): Show c.198+29782_198+29793dupAAAAAAAAAAAA		CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64512393	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	166	0.0060	12	c.199 others(31): Show c.199-38186_199-38175dupAAAAAAAAAAAA		CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64543402	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp1 HG02895.hp2 others(3): Show HG01081.hp1 HG01192.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013	a0001c0001t0001g0073 a0001c0001t0001g0157 a0001c0001t0004g0001 others(3): Show a0001c0001t0001g0073 a0001c0001t0001g0157 a0001c0001t0004g0001 a0001c0001t0005g0003 a0001c0001t0008g0005 a0001c0001t0013g0046	6	166	0.0361	12	c.199 others(29): Show c.199-7179_199-7168dupATATATATATAT		CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64606106	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02895.hp2 HG02897.hp2 others(1): Show HG02257.hp1 HG02895.hp2 HG02897.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0073 a0001c0001t0001g0156 a0001c0001t0001g0157 others(1): Show a0001c0001t0001g0073 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0003g0099	4	166	0.0241	12	c.517 others(29): Show c.517+3207_517+3218dupACACACACACAC		CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	4/26					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64634374	G G	GTATTTAT others(5): Show GTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	166	0.0060	12	c.100 others(29): Show c.1006+117_1006+118insTTATTTATTTAT		CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	7/26					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64681541	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02257.hp2 HG03486.hp2 others(1): Show HG01433.hp2 HG02257.hp2 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0021 a0001c0001t0001g0113 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0113 a0001c0001t0001g0148 a0001c0001t0005g0008	4	166	0.0241	12	c.348 others(29): Show c.3484+218_3484+229dupTTTTTTTTTTTT		CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	25/26					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13202280	T T	TTATCTAT others(5): Show TTATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01884.hp1 HG01952.hp1 others(7): Show HG01255.hp2 HG01884.hp1 HG01952.hp1 HG02056.hp2 HG02083.hp2 HG02165.hp2 HG02615.hp2 HG03130.hp1 NA18977.hp2 NA19079.hp2	a0002 a0004 a0006 others(4): Show a0002 a0004 a0006 a0007 a0010 a0016 a0038	a0002c0003 a0002c0019 a0004c0123 others(6): Show a0002c0003 a0002c0019 a0004c0123 a0006c0029 a0007c0009 a0010c0053 a0010c0083 a0016c0028 a0038c0044	a0002c0003t0003 a0002c0019t0002 a0004c0123t0009 others(7): Show a0002c0003t0003 a0002c0019t0002 a0004c0123t0009 a0006c0029t0002 a0006c0029t0003 a0007c0009t0003 a0010c0053t0003 a0010c0083t0014 a0016c0028t0007 a0038c0044t0005	a0002c0003t0003g0061 a0002c0019t0002g0185 a0004c0123t0009g0077 others(7): Show a0002c0003t0003g0061 a0002c0019t0002g0185 a0004c0123t0009g0077 a0006c0029t0002g0197 a0006c0029t0003g0169 a0007c0009t0003g0069 a0010c0053t0003g0186 a0010c0083t0014g0159 a0016c0028t0007g0084 a0038c0044t0005g0175	10	218	0.0459	12	c.50 others(23): Show c.5032_*5033insGATAGATAGATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					4161		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13202283	T T	TCTATCTA others(5): Show TCTATCTATCTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0003 a0003	a0003c0054 a0003c0054	a0003c0054t0043 a0003c0054t0043	a0003c0054t0043g0060 a0003c0054t0043g0060	1	218	0.0046	12	c.50 others(23): Show c.5029_*5030insGTAGATAGATAG		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					4158		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13202316	C C	CTATCTAT others(5): Show CTATCTATCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02723.hp1 others(3): Show HG01884.hp2 HG02572.hp1 HG02723.hp1 HG02723.hp2 HG03225.hp1 NA21309.hp2	a0001 a0021 a0043 a0001 a0021 a0043	a0001c0006 a0001c0031 a0001c0071 others(2): Show a0001c0006 a0001c0031 a0001c0071 a0021c0090 a0043c0091	a0001c0006t0005 a0001c0006t0008 a0001c0031t0036 others(3): Show a0001c0006t0005 a0001c0006t0008 a0001c0031t0036 a0001c0071t0013 a0021c0090t0007 a0043c0091t0005	a0001c0006t0005g0110 a0001c0006t0008g0217 a0001c0031t0036g0215 others(3): Show a0001c0006t0005g0110 a0001c0006t0008g0217 a0001c0031t0036g0215 a0001c0071t0013g0138 a0021c0090t0007g0162 a0043c0091t0005g0027	6	218	0.0275	12	c.49 others(23): Show c.4996_*4997insCACAGATAGATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					4125		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13202322	A A	ATCTATCT others(5): Show ATCTATCTATCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00609.hp1 others(24): Show HG00099.hp1 HG00140.hp1 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG01070.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01257.hp1 HG01257.hp2 HG01975.hp1 HG01978.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02698.hp2 HG03225.hp2 HG03540.hp2 HG04204.hp2 NA18944.hp2 NA18946.hp1 NA18979.hp2 NA18995.hp1 NA18998.hp1 NA19043.hp2 NA20905.hp1	a0001 a0004 a0005 others(6): Show a0001 a0004 a0005 a0013 a0014 a0025 a0026 a0033 a0039	a0001c0001 a0001c0004 a0001c0005 others(16): Show a0001c0001 a0001c0004 a0001c0005 a0001c0016 a0001c0018 a0001c0020 a0001c0026 a0001c0037 a0001c0098 a0001c0122 a0004c0007 a0005c0022 a0005c0033 a0013c0027 a0014c0048 a0025c0041 a0026c0042 a0033c0088 a0039c0068	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(20): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0004t0011 a0001c0004t0015 a0001c0005t0047 a0001c0016t0004 a0001c0018t0001 a0001c0020t0001 a0001c0026t0001 a0001c0037t0004 a0001c0098t0001 a0001c0122t0001 a0004c0007t0001 a0004c0007t0010 a0005c0022t0004 a0005c0033t0011 a0013c0027t0001 a0014c0048t0001 a0025c0041t0004 a0026c0042t0001 a0033c0088t0001 a0039c0068t0001	a0001c0001t0001g0050 a0001c0001t0001g0128 a0001c0001t0004g0155 others(24): Show a0001c0001t0001g0050 a0001c0001t0001g0128 a0001c0001t0004g0155 a0001c0001t0004g0218 a0001c0004t0001g0078 a0001c0004t0011g0157 a0001c0004t0015g0140 a0001c0005t0047g0024 a0001c0016t0004g0074 a0001c0018t0001g0056 a0001c0020t0001g0188 a0001c0026t0001g0144 a0001c0037t0004g0021 a0001c0098t0001g0112 a0001c0122t0001g0174 a0004c0007t0001g0114 a0004c0007t0010g0062 a0005c0022t0004g0092 a0005c0033t0011g0010 a0005c0033t0011g0170 a0013c0027t0001g0118 a0013c0027t0001g0179 a0014c0048t0001g0146 a0025c0041t0004g0107 a0026c0042t0001g0089 a0033c0088t0001g0207 a0039c0068t0001g0171	27	218	0.1239	12	c.49 others(23): Show c.4990_*4991insCAGATAGATAGA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					4119		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13207858	C C	CCTGCTGC others(5): Show CCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18964.hp2 NA18964.hp2	a0030 a0030	a0030c0062 a0030c0062	a0030c0062t0002 a0030c0062t0002	a0030c0062t0002g0124 a0030c0062t0002g0124	1	218	0.0046	12	c.696 others(21): Show c.6964_6975dupCAGCAGCAGCAG	p.Gln others(15): Show p.Gln2322_Gln2325dup	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	47/47	7230/8647	6975/7521	2325/2506			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13247713	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00639.hp2 others(57): Show HG00099.hp2 HG00423.hp2 HG00639.hp2 HG00735.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01975.hp2 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02083.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG02976.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18939.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19012.hp1 NA19065.hp2 NA19079.hp1 NA20905.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0005 a0006 a0008 a0010 a0011 a0012 a0013 a0014 a0017 a0024 a0027 a0028 a0029 a0032 a0037 a0038	a0001c0001 a0001c0004 a0001c0005 others(36): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0020 a0001c0034 a0001c0049 a0001c0098 a0001c0120 a0001c0126 a0002c0003 a0002c0010 a0002c0032 a0002c0082 a0003c0035 a0003c0073 a0003c0077 a0003c0084 a0003c0116 a0005c0033 a0006c0011 a0006c0121 a0008c0008 a0010c0083 a0010c0128 a0011c0043 a0011c0103 a0012c0065 a0013c0027 a0013c0089 a0014c0111 a0017c0040 a0024c0059 a0027c0064 a0028c0119 a0029c0063 a0032c0045 a0037c0087 a0038c0044	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(44): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0001c0004t0015 a0001c0004t0032 a0001c0005t0001 a0001c0005t0005 a0001c0006t0001 a0001c0006t0008 a0001c0006t0029 a0001c0020t0001 a0001c0034t0001 a0001c0049t0001 a0001c0098t0001 a0001c0120t0004 a0001c0126t0022 a0002c0003t0003 a0002c0010t0003 a0002c0032t0006 a0002c0082t0003 a0003c0035t0016 a0003c0035t0024 a0003c0073t0042 a0003c0077t0039 a0003c0084t0016 a0003c0116t0045 a0005c0033t0011 a0006c0011t0002 a0006c0121t0041 a0008c0008t0002 a0010c0083t0014 a0010c0128t0010 a0011c0043t0015 a0011c0103t0004 a0012c0065t0017 a0013c0027t0001 a0013c0089t0001 a0014c0111t0004 a0017c0040t0001 a0024c0059t0023 a0027c0064t0004 a0028c0119t0026 a0029c0063t0002 a0032c0045t0005 a0037c0087t0001 a0038c0044t0005	a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0115 others(57): Show a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0115 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0004g0013 a0001c0001t0004g0017 a0001c0001t0004g0155 a0001c0001t0004g0218 a0001c0001t0005g0168 a0001c0004t0001g0018 a0001c0004t0001g0078 a0001c0004t0015g0140 a0001c0004t0032g0081 a0001c0005t0001g0187 a0001c0005t0005g0028 a0001c0005t0005g0135 a0001c0006t0001g0032 a0001c0006t0008g0134 a0001c0006t0008g0148 a0001c0006t0029g0136 a0001c0020t0001g0051 a0001c0020t0001g0188 a0001c0034t0001g0068 a0001c0049t0001g0012 a0001c0098t0001g0112 a0001c0120t0004g0014 a0001c0126t0022g0006 a0002c0003t0003g0166 a0002c0010t0003g0023 a0002c0032t0006g0087 a0002c0082t0003g0058 a0003c0035t0016g0076 a0003c0035t0024g0005 a0003c0073t0042g0026 a0003c0077t0039g0022 a0003c0084t0016g0145 a0003c0116t0045g0111 a0005c0033t0011g0010 a0005c0033t0011g0170 a0006c0011t0002g0098 a0006c0121t0041g0042 a0008c0008t0002g0065 a0010c0083t0014g0159 a0010c0128t0010g0139 a0011c0043t0015g0043 a0011c0103t0004g0200 a0012c0065t0017g0055 a0013c0027t0001g0118 a0013c0027t0001g0179 a0013c0089t0001g0143 a0014c0111t0004g0210 a0017c0040t0001g0008 a0024c0059t0023g0001 a0027c0064t0004g0101 a0028c0119t0026g0131 a0029c0063t0002g0196 a0032c0045t0005g0191 a0037c0087t0001g0103 a0038c0044t0005g0175	60	218	0.2752	12	c.486 others(31): Show c.4867-2460_4867-2449dupATTTATTTATTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	30/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310485	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0035 a0035	a0035c0057 a0035c0057	a0035c0057t0020 a0035c0057t0020	a0035c0057t0020g0002 a0035c0057t0020g0002	1	218	0.0046	12	c.166 others(31): Show c.1669-1958_1669-1957insATATATATATAT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310487	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0167 a0003c0015t0002g0167	1	218	0.0046	12	c.166 others(31): Show c.1669-1960_1669-1959insATATATATATAT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310489	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0126 a0001c0126	a0001c0126t0022 a0001c0126t0022	a0001c0126t0022g0006 a0001c0126t0022g0006	1	218	0.0046	12	c.166 others(31): Show c.1669-1973_1669-1962dupATATATATATAT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13318890	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp2 NA18906.hp2 HG02258.hp1 HG02630.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0058 a0001c0099 a0002c0101 a0001c0058 a0001c0099 a0002c0101	a0001c0058t0004 a0001c0099t0012 a0002c0101t0006 a0001c0058t0004 a0001c0099t0012 a0002c0101t0006	a0001c0058t0004g0083 a0001c0099t0012g0029 a0002c0101t0006g0150 a0001c0058t0004g0083 a0001c0099t0012g0029 a0002c0101t0006g0150	3	218	0.0138	12	c.134 others(31): Show c.1346-1581_1346-1570dupAAAAAAAAAAAA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13320237	C C	CGAGAGAG others(5): Show CGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01106.hp1 HG01261.hp2 others(13): Show HG00438.hp2 HG01106.hp1 HG01261.hp2 HG01993.hp2 HG02083.hp1 HG02602.hp1 HG02602.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18955.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA19012.hp2 NA19084.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0012 a0014 a0019 a0027 a0031 a0045	a0001c0004 a0002c0003 a0002c0010 others(13): Show a0001c0004 a0002c0003 a0002c0010 a0002c0114 a0003c0046 a0003c0055 a0004c0007 a0005c0033 a0007c0100 a0012c0023 a0014c0048 a0014c0115 a0019c0109 a0027c0064 a0031c0061 a0045c0036	a0001c0004t0015 a0002c0003t0003 a0002c0010t0002 others(13): Show a0001c0004t0015 a0002c0003t0003 a0002c0010t0002 a0002c0114t0002 a0003c0046t0003 a0003c0055t0044 a0004c0007t0009 a0005c0033t0011 a0007c0100t0017 a0012c0023t0003 a0014c0048t0001 a0014c0115t0004 a0019c0109t0005 a0027c0064t0004 a0031c0061t0003 a0045c0036t0028	a0001c0004t0015g0140 a0002c0003t0003g0166 a0002c0010t0002g0054 others(13): Show a0001c0004t0015g0140 a0002c0003t0003g0166 a0002c0010t0002g0054 a0002c0114t0002g0192 a0003c0046t0003g0116 a0003c0055t0044g0071 a0004c0007t0009g0147 a0005c0033t0011g0010 a0007c0100t0017g0039 a0012c0023t0003g0164 a0014c0048t0001g0146 a0014c0115t0004g0066 a0019c0109t0005g0198 a0027c0064t0004g0101 a0031c0061t0003g0106 a0045c0036t0028g0173	16	218	0.0734	12	c.134 others(31): Show c.1346-2928_1346-2917dupTCTCTCTCTCTC		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(5): Show GGAGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp1 HG00738.hp1 others(7): Show HG00544.hp2 HG00639.hp1 HG00738.hp1 HG01169.hp2 HG01255.hp2 HG02040.hp2 HG02809.hp2 HG03139.hp2 HG03669.hp2 NA18968.hp2	a0002 a0003 a0007 others(2): Show a0002 a0003 a0007 a0010 a0011	a0002c0003 a0003c0013 a0003c0039 others(5): Show a0002c0003 a0003c0013 a0003c0039 a0003c0094 a0007c0075 a0007c0118 a0010c0053 a0011c0043	a0002c0003t0002 a0002c0003t0007 a0003c0013t0018 others(6): Show a0002c0003t0002 a0002c0003t0007 a0003c0013t0018 a0003c0039t0009 a0003c0094t0018 a0007c0075t0003 a0007c0118t0002 a0010c0053t0003 a0011c0043t0015	a0002c0003t0002g0053 a0002c0003t0002g0113 a0002c0003t0007g0086 others(7): Show a0002c0003t0002g0053 a0002c0003t0002g0113 a0002c0003t0007g0086 a0003c0013t0018g0063 a0003c0039t0009g0075 a0003c0094t0018g0208 a0007c0075t0003g0190 a0007c0118t0002g0052 a0010c0053t0003g0186 a0011c0043t0015g0043	10	218	0.0459	12	c.979 others(27): Show c.979-686_979-685insTCCCTCTCTCTC		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13399394	G G	GAGAAGAA others(5): Show GAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0084 a0003c0084	a0003c0084t0016 a0003c0084t0016	a0003c0084t0016g0145 a0003c0084t0016g0145	1	218	0.0046	12	c.540 others(31): Show c.540-27627_540-27616dupTCTTCTTCTTCT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406465	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0126 a0001c0126	a0001c0126t0022 a0001c0126t0022	a0001c0126t0022g0006 a0001c0126t0022g0006	1	218	0.0046	12	c.540 others(31): Show c.540-34698_540-34687dupTATATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406465	T T	TTTTATAT others(5): Show TTTTATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0072 a0001c0034t0001g0072	1	218	0.0046	12	c.540 others(31): Show c.540-34687_540-34686insTATATATATAAA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406509	A A	ATATATAT others(5): Show ATATATATGTATG	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18980.hp2 HG02273.hp1 NA18980.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0004 a0006c0011t0003 a0001c0001t0004 a0006c0011t0003	a0001c0001t0004g0013 a0006c0011t0003g0070 a0001c0001t0004g0013 a0006c0011t0003g0070	2	218	0.0092	12	c.540 others(31): Show c.540-34731_540-34730insCATACATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406509	A A	ATATGTAT others(5): Show ATATGTATGTATG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0005 a0005	a0005c0102 a0005c0102	a0005c0102t0003 a0005c0102t0003	a0005c0102t0003g0122 a0005c0102t0003g0122	1	218	0.0046	12	c.540 others(31): Show c.540-34731_540-34730insCATACATACATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413895	A A	AAAAGAAA others(5): Show AAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp1 HG02109.hp1 others(8): Show HG00738.hp2 HG01123.hp1 HG02109.hp1 HG02109.hp2 HG02486.hp2 HG02809.hp1 HG03130.hp2 HG03471.hp2 NA18948.hp1 NA19065.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0004 a0001c0006 a0001c0125 others(5): Show a0001c0004 a0001c0006 a0001c0125 a0002c0002 a0002c0003 a0003c0105 a0003c0116 a0010c0107	a0001c0004t0001 a0001c0006t0008 a0001c0006t0029 others(7): Show a0001c0004t0001 a0001c0006t0008 a0001c0006t0029 a0001c0125t0013 a0002c0002t0002 a0002c0002t0033 a0002c0003t0003 a0003c0105t0030 a0003c0116t0045 a0010c0107t0021	a0001c0004t0001g0018 a0001c0004t0001g0078 a0001c0006t0008g0148 others(8): Show a0001c0004t0001g0018 a0001c0004t0001g0078 a0001c0006t0008g0148 a0001c0006t0029g0136 a0001c0125t0013g0209 a0002c0002t0002g0094 a0002c0002t0033g0082 a0002c0003t0003g0166 a0003c0105t0030g0141 a0003c0116t0045g0111 a0010c0107t0021g0004	11	218	0.0505	12	c.539 others(31): Show c.539+38969_539+38980dupCTTTCTTTCTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13427453	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02129.hp1 HG02280.hp2 others(16): Show HG02083.hp2 HG02129.hp1 HG02280.hp2 HG02622.hp2 HG02895.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp2 HG03831.hp2 HG03834.hp1 NA18964.hp1 NA18977.hp1 NA19000.hp1 NA19065.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0016 a0020 a0029 a0032 a0034 a0038	a0001c0005 a0001c0031 a0001c0038 others(15): Show a0001c0005 a0001c0031 a0001c0038 a0001c0106 a0002c0002 a0003c0015 a0003c0039 a0003c0077 a0003c0116 a0004c0007 a0004c0047 a0006c0121 a0016c0028 a0020c0078 a0029c0063 a0032c0045 a0034c0081 a0038c0044	a0001c0005t0047 a0001c0031t0013 a0001c0038t0007 others(15): Show a0001c0005t0047 a0001c0031t0013 a0001c0038t0007 a0001c0106t0001 a0002c0002t0002 a0003c0015t0002 a0003c0039t0009 a0003c0077t0039 a0003c0116t0045 a0004c0007t0001 a0004c0047t0001 a0006c0121t0041 a0016c0028t0007 a0020c0078t0019 a0029c0063t0002 a0032c0045t0005 a0034c0081t0019 a0038c0044t0005	a0001c0005t0047g0024 a0001c0031t0013g0123 a0001c0038t0007g0205 others(16): Show a0001c0005t0047g0024 a0001c0031t0013g0123 a0001c0038t0007g0205 a0001c0106t0001g0121 a0002c0002t0002g0130 a0003c0015t0002g0167 a0003c0039t0009g0075 a0003c0077t0039g0022 a0003c0116t0045g0111 a0004c0007t0001g0049 a0004c0047t0001g0178 a0006c0121t0041g0042 a0016c0028t0007g0073 a0016c0028t0007g0084 a0020c0078t0019g0151 a0029c0063t0002g0196 a0032c0045t0005g0191 a0034c0081t0019g0152 a0038c0044t0005g0175	19	218	0.0872	12	c.539 others(31): Show c.539+25411_539+25422dupATTTATTTATTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13432416	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00738.hp1 others(12): Show HG00438.hp2 HG00609.hp1 HG00738.hp1 HG01256.hp2 HG01975.hp1 HG02129.hp1 HG02280.hp1 HG02602.hp2 HG02622.hp1 HG03225.hp2 HG03942.hp1 NA18977.hp1 NA19000.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0010 a0014 a0017 a0029 a0032	a0001c0001 a0001c0016 a0001c0098 others(10): Show a0001c0001 a0001c0016 a0001c0098 a0001c0122 a0002c0003 a0002c0030 a0004c0007 a0004c0047 a0010c0128 a0014c0048 a0017c0040 a0029c0063 a0032c0045	a0001c0001t0001 a0001c0016t0004 a0001c0098t0001 others(11): Show a0001c0001t0001 a0001c0016t0004 a0001c0098t0001 a0001c0122t0001 a0002c0003t0002 a0002c0030t0002 a0004c0007t0004 a0004c0007t0009 a0004c0047t0001 a0010c0128t0010 a0014c0048t0001 a0017c0040t0001 a0029c0063t0002 a0032c0045t0005	a0001c0001t0001g0050 a0001c0016t0004g0047 a0001c0016t0004g0074 others(12): Show a0001c0001t0001g0050 a0001c0016t0004g0047 a0001c0016t0004g0074 a0001c0098t0001g0112 a0001c0122t0001g0174 a0002c0003t0002g0113 a0002c0030t0002g0165 a0004c0007t0004g0105 a0004c0007t0009g0147 a0004c0047t0001g0178 a0010c0128t0010g0139 a0014c0048t0001g0146 a0017c0040t0001g0008 a0029c0063t0002g0196 a0032c0045t0005g0191	15	218	0.0688	12	c.539 others(31): Show c.539+20448_539+20459dupATTTATTTATTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13433460	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01255.hp1 HG01516.hp2 HG01081.hp2 HG01255.hp1 HG01516.hp2	a0002 a0008 a0037 a0002 a0008 a0037	a0002c0030 a0008c0012 a0037c0087 a0002c0030 a0008c0012 a0037c0087	a0002c0030t0002 a0008c0012t0003 a0037c0087t0001 a0002c0030t0002 a0008c0012t0003 a0037c0087t0001	a0002c0030t0002g0158 a0008c0012t0003g0015 a0037c0087t0001g0103 a0002c0030t0002g0158 a0008c0012t0003g0015 a0037c0087t0001g0103	3	218	0.0138	12	c.539 others(31): Show c.539+19404_539+19415dupTTTTTTTTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13436559	C C	CCACTCAC others(5): Show CCACTCACTCATT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01099.hp1 others(49): Show HG00609.hp1 HG00609.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01884.hp1 HG01952.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02165.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp2 HG06807.hp2 NA18747.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18975.hp2 NA18977.hp2 NA18995.hp2 NA18998.hp1 NA19012.hp1 NA19065.hp1 NA19084.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0017 a0018 a0019 a0021 a0022 a0023 a0027 a0039 a0043 a0044	a0001c0001 a0001c0004 a0001c0005 others(42): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0026 a0001c0058 a0001c0071 a0001c0098 a0001c0106 a0001c0122 a0001c0126 a0002c0002 a0002c0003 a0002c0010 a0002c0019 a0002c0050 a0002c0082 a0003c0013 a0003c0015 a0003c0035 a0003c0046 a0003c0055 a0003c0077 a0004c0007 a0004c0123 a0005c0033 a0006c0029 a0007c0009 a0008c0008 a0009c0014 a0010c0128 a0011c0043 a0011c0103 a0013c0027 a0014c0115 a0017c0127 a0018c0017 a0019c0079 a0021c0092 a0022c0095 a0023c0113 a0027c0064 a0039c0068 a0043c0091 a0044c0112	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(48): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0005t0001 a0001c0005t0047 a0001c0006t0008 a0001c0006t0009 a0001c0026t0001 a0001c0026t0031 a0001c0058t0004 a0001c0071t0013 a0001c0098t0001 a0001c0106t0001 a0001c0122t0001 a0001c0126t0022 a0002c0002t0015 a0002c0003t0003 a0002c0010t0003 a0002c0019t0002 a0002c0050t0002 a0002c0082t0003 a0003c0013t0007 a0003c0013t0027 a0003c0015t0035 a0003c0035t0016 a0003c0035t0024 a0003c0046t0003 a0003c0055t0044 a0003c0077t0039 a0004c0007t0004 a0004c0123t0009 a0005c0033t0011 a0006c0029t0003 a0007c0009t0003 a0008c0008t0002 a0009c0014t0046 a0010c0128t0010 a0011c0043t0015 a0011c0103t0004 a0013c0027t0001 a0014c0115t0004 a0017c0127t0001 a0018c0017t0014 a0019c0079t0007 a0021c0092t0016 a0022c0095t0003 a0023c0113t0013 a0027c0064t0004 a0039c0068t0001 a0043c0091t0005 a0044c0112t0012	a0001c0001t0001g0115 a0001c0001t0004g0155 a0001c0004t0001g0078 others(49): Show a0001c0001t0001g0115 a0001c0001t0004g0155 a0001c0004t0001g0078 a0001c0005t0001g0187 a0001c0005t0047g0024 a0001c0006t0008g0148 a0001c0006t0009g0189 a0001c0026t0001g0144 a0001c0026t0031g0104 a0001c0058t0004g0083 a0001c0071t0013g0138 a0001c0098t0001g0112 a0001c0106t0001g0121 a0001c0122t0001g0174 a0001c0126t0022g0006 a0002c0002t0015g0160 a0002c0003t0003g0061 a0002c0010t0003g0023 a0002c0019t0002g0185 a0002c0050t0002g0088 a0002c0082t0003g0058 a0003c0013t0007g0041 a0003c0013t0027g0149 a0003c0015t0035g0119 a0003c0035t0016g0076 a0003c0035t0024g0005 a0003c0046t0003g0116 a0003c0055t0044g0071 a0003c0077t0039g0022 a0004c0007t0004g0105 a0004c0123t0009g0077 a0005c0033t0011g0010 a0006c0029t0003g0169 a0007c0009t0003g0069 a0008c0008t0002g0065 a0009c0014t0046g0176 a0010c0128t0010g0139 a0011c0043t0015g0043 a0011c0103t0004g0200 a0013c0027t0001g0118 a0013c0027t0001g0179 a0014c0115t0004g0066 a0017c0127t0001g0007 a0018c0017t0014g0212 a0019c0079t0007g0067 a0021c0092t0016g0203 a0022c0095t0003g0183 a0023c0113t0013g0096 a0027c0064t0004g0101 a0039c0068t0001g0171 a0043c0091t0005g0027 a0044c0112t0012g0206	52	218	0.2385	12	c.539 others(31): Show c.539+16305_539+16316dupAATGAGTGAGTG		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13466877	A A	ATTATTTA others(5): Show ATTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(30): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG01099.hp1 HG01255.hp2 HG01884.hp1 HG02083.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02809.hp2 HG03139.hp1 HG03139.hp2 HG03669.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18939.hp2 NA18946.hp1 NA18968.hp1 NA18968.hp2 NA18977.hp1 NA18998.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19079.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0014 a0017 a0020 a0022 a0029 a0033 a0035 a0045	a0001c0001 a0001c0004 a0001c0006 others(28): Show a0001c0001 a0001c0004 a0001c0006 a0001c0031 a0001c0034 a0001c0038 a0002c0002 a0002c0085 a0003c0015 a0003c0035 a0003c0039 a0003c0054 a0003c0094 a0004c0123 a0005c0033 a0006c0029 a0007c0009 a0007c0075 a0009c0014 a0010c0053 a0012c0065 a0014c0115 a0017c0040 a0017c0127 a0020c0074 a0020c0078 a0022c0095 a0029c0063 a0033c0088 a0035c0057 a0045c0036	a0001c0001t0005 a0001c0004t0001 a0001c0006t0008 others(30): Show a0001c0001t0005 a0001c0004t0001 a0001c0006t0008 a0001c0006t0009 a0001c0031t0013 a0001c0034t0001 a0001c0038t0007 a0002c0002t0002 a0002c0085t0005 a0003c0015t0035 a0003c0035t0016 a0003c0039t0009 a0003c0054t0043 a0003c0094t0018 a0004c0123t0009 a0005c0033t0011 a0006c0029t0002 a0007c0009t0034 a0007c0009t0038 a0007c0075t0003 a0009c0014t0002 a0010c0053t0003 a0012c0065t0017 a0014c0115t0004 a0017c0040t0001 a0017c0127t0001 a0020c0074t0012 a0020c0078t0019 a0022c0095t0003 a0029c0063t0002 a0033c0088t0001 a0035c0057t0020 a0045c0036t0028	a0001c0001t0005g0168 a0001c0004t0001g0078 a0001c0006t0008g0134 others(30): Show a0001c0001t0005g0168 a0001c0004t0001g0078 a0001c0006t0008g0134 a0001c0006t0009g0189 a0001c0031t0013g0123 a0001c0034t0001g0072 a0001c0038t0007g0205 a0002c0002t0002g0011 a0002c0085t0005g0085 a0003c0015t0035g0119 a0003c0035t0016g0076 a0003c0039t0009g0075 a0003c0054t0043g0060 a0003c0094t0018g0208 a0004c0123t0009g0077 a0005c0033t0011g0010 a0006c0029t0002g0197 a0007c0009t0034g0163 a0007c0009t0038g0153 a0007c0075t0003g0190 a0009c0014t0002g0195 a0010c0053t0003g0186 a0012c0065t0017g0055 a0014c0115t0004g0066 a0017c0040t0001g0008 a0017c0127t0001g0007 a0020c0074t0012g0161 a0020c0078t0019g0151 a0022c0095t0003g0183 a0029c0063t0002g0196 a0033c0088t0001g0207 a0035c0057t0020g0002 a0045c0036t0028g0173	33	218	0.1514	12	c.294 others(31): Show c.294-11677_294-11666dupATAAATAAATAA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13466882	T T	TTATTTAT others(5): Show TTATTTATTTATG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0014 a0018c0017t0014	a0018c0017t0014g0212 a0018c0017t0014g0212	1	218	0.0046	12	c.294 others(31): Show c.294-11671_294-11670insCATAAATAAATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13490689	A A	AACGGAAA others(5): Show AACGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03516.hp2 HG03471.hp2 HG03516.hp2	a0003 a0010 a0003 a0010	a0003c0035 a0010c0107 a0003c0035 a0010c0107	a0003c0035t0024 a0010c0107t0021 a0003c0035t0024 a0010c0107t0021	a0003c0035t0024g0005 a0010c0107t0021g0004 a0003c0035t0024g0005 a0010c0107t0021g0004	2	218	0.0092	12	c.293 others(31): Show c.293+15242_293+15243insCTTTCTTTCCGT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13490992	A A	AGAAGGAA others(5): Show AGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0127 a0002c0003t0003g0127	1	218	0.0046	12	c.293 others(31): Show c.293+14928_293+14939dupCTTCCTTCCTTC		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510018	A A	AAAGGAAG others(5): Show AAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0041 a0041	a0041c0067 a0041c0067	a0041c0067t0002 a0041c0067t0002	a0041c0067t0002g0172 a0041c0067t0002g0172	1	218	0.0046	12	c.-38 others(23): Show c.-3806_-3795dupCCTTCCTTCCTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					3540		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510056	A A	AGGGGGGG others(5): Show AGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0041 a0041	a0041c0067 a0041c0067	a0041c0067t0002 a0041c0067t0002	a0041c0067t0002g0172 a0041c0067t0002g0172	1	218	0.0046	12	c.-38 others(23): Show c.-3833_-3832insCCCCCCCCCCCC		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					3578		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510060	A A	AGGGAGGG others(5): Show AGGGAGGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0033 a0008c0008t0002g0033	1	218	0.0046	12	c.-38 others(23): Show c.-3837_-3836insCTCCCCCCTCCC		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					3582		chr19	TogoVar

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