Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CABLES2_chr20_62383634_62412285	62398089	C C	CGGTGGTG others(17): Show CGGTGGTGGTGACGGTGGTGGTGGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	400	0.0025	24	c.363 others(41): Show c.363-1498_363-1497insACCACCACCACCGTCACCACCACC	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398109	G G	GTGATGGT others(17): Show GTGATGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18948.hp2 NA18950.hp1 others(3): Show NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18986.hp2 NA19054.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0162 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0162 a0001c0001t0001g0163	6	400	0.0150	24	c.363 others(41): Show c.363-1518_363-1517insTCACCACCACCACCACCACCATCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398112	G G	GTGATGGT others(17): Show GTGATGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	400	0.0025	24	c.363 others(41): Show c.363-1521_363-1520insTCACCACCACCACCACCACCATCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398175	G G	GTGGTGGT others(17): Show GTGGTGGTGGTGACGGTGGTGATGA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	400	0.0025	24	c.363 others(41): Show c.363-1584_363-1583insTCATCACCACCGTCACCACCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398181	G G	GTGGTGAC others(17): Show GTGGTGACGGTGGTGATGATGGTGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	400	0.0025	24	c.363 others(41): Show c.363-1590_363-1589insTCACCATCATCACCACCGTCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398187	A A	ACGGTGGT others(17): Show ACGGTGGTGATGATGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00642.hp2 others(95): Show HG00140.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02055.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18961.hp1 NA18964.hp2 NA18966.hp2 NA18980.hp2 NA18990.hp1 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0004c0007 a0005c0009 a0005c0012	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 others(13): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0012 a0001c0002t0014 a0001c0002t0030 a0001c0005t0004 a0001c0008t0003 a0001c0008t0005 a0004c0007t0003 a0005c0009t0023 a0005c0012t0002	a0001c0001t0003g0046 a0001c0001t0003g0179 a0001c0001t0005g0170 others(56): Show a0001c0001t0003g0046 a0001c0001t0003g0179 a0001c0001t0005g0170 a0001c0001t0016g0166 a0001c0001t0018g0215 a0001c0002t0001g0188 a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0050 a0001c0002t0002g0137 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0209 a0001c0002t0010g0028 a0001c0002t0010g0193 a0001c0002t0010g0198 a0001c0002t0012g0048 a0001c0002t0012g0192 a0001c0002t0014g0049 a0001c0002t0030g0194 a0001c0005t0004g0012 a0001c0005t0004g0025 a0001c0005t0004g0029 a0001c0005t0004g0052 a0001c0005t0004g0184 a0001c0005t0004g0206 a0001c0005t0004g0207 a0001c0008t0003g0027 a0001c0008t0003g0185 a0001c0008t0003g0186 a0001c0008t0003g0187 a0001c0008t0003g0213 a0001c0008t0005g0031 a0001c0008t0005g0053 a0001c0008t0005g0210 a0001c0008t0005g0211 a0001c0008t0005g0216 a0004c0007t0003g0045 a0004c0007t0003g0168 a0004c0007t0003g0169 a0004c0007t0003g0172 a0004c0007t0003g0173 a0004c0007t0003g0174 a0004c0007t0003g0175 a0004c0007t0003g0214 a0005c0009t0023g0060 a0005c0012t0002g0061	98	400	0.2450	24	c.363 others(41): Show c.363-1596_363-1595insCCACCATCACCATCATCACCACCG	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABP5_chr19_48024383_48049079	48028497	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0018 a0003c0004t0018	a0003c0004t0018g0211 a0003c0004t0018g0211	1	376	0.0027	24	c.20 others(35): Show c.2059_*2060insAAAAAAAAAAAAAAAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		885		chr19	TogoVar
CABP5_chr19_48024383_48049079	48029798	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG02809.hp1 HG01106.hp2 HG02809.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0042 a0003c0004t0070 a0001c0001t0042 a0003c0004t0070	a0001c0001t0042g0167 a0003c0004t0070g0207 a0001c0001t0042g0167 a0003c0004t0070g0207	2	376	0.0053	24	c.73 others(33): Show c.735_*758dupCTCTCTCTCTCTCTCTCTCTCTCT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	758		chr19	TogoVar
CABS1_chr4_70329981_70342116	70340742	C C	CTATTTAT others(17): Show CTATTTATTTATTTATTTATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(86): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00597.hp1 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01106.hp1 HG01106.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01884.hp2 HG01934.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03471.hp1 HG03540.hp2 HG03831.hp2 HG03834.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18965.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18982.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19054.hp1 NA19059.hp1 NA19059.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19070.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp2 NA19089.hp2 NA19090.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0006c0008	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0003c0004t0001 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0002t0001g0002 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0002t0001g0002 a0002c0003t0001g0001 a0002c0003t0001g0007 a0003c0004t0001g0002 a0006c0008t0001g0002	89	446	0.1996	24	c.38 others(35): Show c.3896_*3897insTATTTATTTATTTATTTATTTATT	CABS1	ENSG00000145309.6	transcript	ENST00000273936.6	protein_coding		3627		chr4	TogoVar
CACHD1_chr1_64465129_64698053	64543402	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0122 a0001c0001t0007g0122	1	166	0.0060	24	c.199 others(41): Show c.199-7191_199-7168dupATATATATATATATATATATATAT	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(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0061 a0001c0003t0001g0061	1	166	0.0060	24	c.517 others(41): Show c.517+3195_517+3218dupACACACACACACACACACACACAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13202316	C C	CTATCTAT others(17): Show CTATCTATCTATCTATCTATCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG03139.hp1 HG04228.hp1 others(5): Show HG00639.hp1 HG03139.hp1 HG04228.hp1 NA18906.hp2 NA18939.hp2 NA19043.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0020	a0001c0001 a0001c0006 a0001c0031 others(5): Show a0001c0001 a0001c0006 a0001c0031 a0001c0099 a0002c0002 a0003c0013 a0007c0009 a0020c0074	a0001c0001t0005 a0001c0006t0008 a0001c0031t0013 others(5): Show a0001c0001t0005 a0001c0006t0008 a0001c0031t0013 a0001c0099t0012 a0002c0002t0015 a0003c0013t0018 a0007c0009t0038 a0020c0074t0012	a0001c0001t0005g0168 a0001c0006t0008g0134 a0001c0031t0013g0123 others(5): Show a0001c0001t0005g0168 a0001c0006t0008g0134 a0001c0031t0013g0123 a0001c0099t0012g0029 a0002c0002t0015g0160 a0003c0013t0018g0063 a0007c0009t0038g0153 a0020c0074t0012g0161	8	218	0.0367	24	c.49 others(35): Show c.4996_*4997insCACAGATAGATAGATAGATAGATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		4125		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13294487	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0024 a0024	a0024c0059 a0024c0059	a0024c0059t0023 a0024c0059t0023	a0024c0059t0023g0001 a0024c0059t0023g0001	1	218	0.0046	24	c.308 others(43): Show c.3089+4056_3089+4057insAAAAAAAAAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	19/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310485	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02976.hp1 HG00423.hp1 HG02976.hp1	a0007 a0015 a0007 a0015	a0007c0009 a0015c0021 a0007c0009 a0015c0021	a0007c0009t0034 a0015c0021t0004 a0007c0009t0034 a0015c0021t0004	a0007c0009t0034g0163 a0015c0021t0004g0044 a0007c0009t0034g0163 a0015c0021t0004g0044	2	218	0.0092	24	c.166 others(43): Show c.1669-1958_1669-1957insATATATATATATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13318890	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02970.hp1 HG01978.hp1 HG02970.hp1	a0002 a0005 a0002 a0005	a0002c0117 a0005c0022 a0002c0117 a0005c0022	a0002c0117t0009 a0005c0022t0004 a0002c0117t0009 a0005c0022t0004	a0002c0117t0009g0079 a0005c0022t0004g0092 a0002c0117t0009g0079 a0005c0022t0004g0092	2	218	0.0092	24	c.134 others(43): Show c.1346-1570_1346-1569insAAAAAAAAAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(17): Show GGAGAGAGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01993.hp1 HG01993.hp2 others(3): Show HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02451.hp2 NA18975.hp2 NA18980.hp2	a0001 a0006 a0012 others(2): Show a0001 a0006 a0012 a0018 a0019	a0001c0018 a0006c0011 a0012c0023 others(2): Show a0001c0018 a0006c0011 a0012c0023 a0018c0017 a0019c0079	a0001c0018t0001 a0006c0011t0002 a0006c0011t0003 others(3): Show a0001c0018t0001 a0006c0011t0002 a0006c0011t0003 a0012c0023t0003 a0018c0017t0014 a0019c0079t0007	a0001c0018t0001g0037 a0006c0011t0002g0133 a0006c0011t0003g0070 others(3): Show a0001c0018t0001g0037 a0006c0011t0002g0133 a0006c0011t0003g0070 a0012c0023t0003g0164 a0018c0017t0014g0216 a0019c0079t0007g0067	6	218	0.0275	24	c.979 others(39): Show c.979-686_979-685insTCTCTCTCTCTCTCCCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13360265	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01099.hp2 HG04204.hp1 others(1): Show HG00423.hp1 HG01099.hp2 HG04204.hp1 NA18979.hp1	a0006 a0007 a0019 a0006 a0007 a0019	a0006c0011 a0006c0060 a0007c0009 others(1): Show a0006c0011 a0006c0060 a0007c0009 a0019c0109	a0006c0011t0002 a0006c0060t0002 a0007c0009t0034 others(1): Show a0006c0011t0002 a0006c0060t0002 a0007c0009t0034 a0019c0109t0005	a0006c0011t0002g0098 a0006c0060t0002g0016 a0007c0009t0034g0163 others(1): Show a0006c0011t0002g0098 a0006c0060t0002g0016 a0007c0009t0034g0163 a0019c0109t0005g0198	4	218	0.0184	24	c.785 others(39): Show c.785-467_785-466insTATATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	5/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413893	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0074 a0001c0016t0004g0074	1	218	0.0046	24	c.539 others(43): Show c.539+38982_539+38983insTTCTTTCTTTCTTTCTTTCTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413895	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02647.hp1 NA18939.hp2 HG01884.hp2 HG02647.hp1 NA18939.hp2	a0001 a0023 a0001 a0023	a0001c0001 a0001c0006 a0023c0113 a0001c0001 a0001c0006 a0023c0113	a0001c0001t0005 a0001c0006t0005 a0023c0113t0013 a0001c0001t0005 a0001c0006t0005 a0023c0113t0013	a0001c0001t0005g0168 a0001c0006t0005g0110 a0023c0113t0013g0096 a0001c0001t0005g0168 a0001c0006t0005g0110 a0023c0113t0013g0096	3	218	0.0138	24	c.539 others(43): Show c.539+38957_539+38980dupCTTTCTTTCTTTCTTTCTTTCTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13427020	A A	AAATGGCA others(17): Show AAATGGCACAGCAATTTCCGTCTCT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0003 a0012c0023t0003	a0012c0023t0003g0164 a0012c0023t0003g0164	1	218	0.0046	24	c.539 others(43): Show c.539+25832_539+25855dupAGAGACGGAAATTGCTGTGCCATT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13433460	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0181 a0002c0002t0003g0181	1	218	0.0046	24	c.539 others(43): Show c.539+19415_539+19416insTTTTTTTTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510018	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01167.hp2 HG01169.hp1 others(2): Show HG00609.hp2 HG01167.hp2 HG01169.hp1 NA18977.hp2 NA19000.hp1	a0001 a0002 a0032 a0001 a0002 a0032	a0001c0001 a0001c0026 a0002c0003 others(1): Show a0001c0001 a0001c0026 a0002c0003 a0032c0045	a0001c0001t0001 a0001c0026t0001 a0002c0003t0003 others(1): Show a0001c0001t0001 a0001c0026t0001 a0002c0003t0003 a0032c0045t0005	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0026t0001g0144 others(2): Show a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0026t0001g0144 a0002c0003t0003g0061 a0032c0045t0005g0191	5	218	0.0229	24	c.-37 others(35): Show c.-3795_-3794insCCTTCCTTCCTTCCTTCCTTCCTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3540		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG01261.hp1 others(2): Show HG00609.hp1 HG00735.hp1 HG01261.hp1 NA18980.hp2 NA18995.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0020 a0001c0122 a0002c0082 others(2): Show a0001c0020 a0001c0122 a0002c0082 a0006c0011 a0009c0051	a0001c0020t0001 a0001c0122t0001 a0002c0082t0003 others(2): Show a0001c0020t0001 a0001c0122t0001 a0002c0082t0003 a0006c0011t0003 a0009c0051t0002	a0001c0020t0001g0188 a0001c0122t0001g0174 a0002c0082t0003g0058 others(2): Show a0001c0020t0001g0188 a0001c0122t0001g0174 a0002c0082t0003g0058 a0006c0011t0003g0070 a0009c0051t0002g0184	5	218	0.0229	24	c.-38 others(35): Show c.-3812_-3811insCCCTTCCTTCCTTCCTTCCTTCCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3557		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG01070.hp1 others(16): Show HG00423.hp2 HG00544.hp2 HG01070.hp1 HG01256.hp2 HG02040.hp2 HG02165.hp1 HG02602.hp1 HG02683.hp2 HG02896.hp2 HG03669.hp2 HG03688.hp1 HG06807.hp1 NA18946.hp1 NA18955.hp1 NA18975.hp2 NA18998.hp2 NA19012.hp2 NA19084.hp2 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0007 a0011 a0012 a0014 a0019 a0031	a0001c0001 a0001c0004 a0001c0018 others(14): Show a0001c0001 a0001c0004 a0001c0018 a0001c0034 a0002c0002 a0002c0003 a0002c0010 a0002c0030 a0002c0124 a0003c0055 a0005c0033 a0007c0118 a0011c0043 a0012c0065 a0014c0115 a0019c0079 a0031c0061	a0001c0001t0001 a0001c0004t0001 a0001c0018t0001 others(15): Show a0001c0001t0001 a0001c0004t0001 a0001c0018t0001 a0001c0034t0001 a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 a0002c0010t0002 a0002c0030t0002 a0002c0124t0006 a0003c0055t0044 a0005c0033t0011 a0007c0118t0002 a0011c0043t0015 a0012c0065t0017 a0014c0115t0004 a0019c0079t0007 a0031c0061t0003	a0001c0001t0001g0030 a0001c0004t0001g0199 a0001c0018t0001g0056 others(16): Show a0001c0001t0001g0030 a0001c0004t0001g0199 a0001c0018t0001g0056 a0001c0034t0001g0068 a0002c0002t0002g0011 a0002c0002t0002g0130 a0002c0002t0003g0090 a0002c0003t0002g0053 a0002c0010t0002g0054 a0002c0030t0002g0165 a0002c0124t0006g0132 a0003c0055t0044g0071 a0005c0033t0011g0010 a0007c0118t0002g0052 a0011c0043t0015g0043 a0012c0065t0017g0055 a0014c0115t0004g0066 a0019c0079t0007g0067 a0031c0061t0003g0106	19	218	0.0872	24	c.-38 others(35): Show c.-3812_-3811insCCCTCCCTTCCTTCCTTCCTTCCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3557		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137954855	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0065 a0001c0002t0008g0065	1	248	0.0040	24	c.107 others(41): Show c.1071-843_1071-842insGTGTGTGTGTGTGTGTGTGTGTGT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46			chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137954856	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02056.hp2 HG03239.hp2 others(11): Show HG00673.hp2 HG02056.hp2 HG03239.hp2 HG03516.hp1 HG04228.hp1 NA18944.hp1 NA18948.hp2 NA18955.hp2 NA18964.hp2 NA18990.hp1 NA18999.hp1 NA19000.hp1 NA19081.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 others(3): Show a0001c0002 a0001c0003 a0001c0007 a0001c0013 a0001c0018 a0001c0032	a0001c0002t0001 a0001c0002t0008 a0001c0003t0007 others(5): Show a0001c0002t0001 a0001c0002t0008 a0001c0003t0007 a0001c0007t0001 a0001c0007t0003 a0001c0013t0008 a0001c0018t0009 a0001c0032t0001	a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0068 others(11): Show a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0104 a0001c0002t0001g0123 a0001c0002t0008g0026 a0001c0003t0007g0118 a0001c0007t0001g0034 a0001c0007t0003g0047 a0001c0007t0003g0056 a0001c0013t0008g0066 a0001c0018t0009g0029 a0001c0032t0001g0071	14	248	0.0565	24	c.107 others(41): Show c.1071-841_1071-818dupTGTGTGTGTGTGTGTGTGTGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137954879	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0005 a0005	a0005c0039 a0005c0039	a0005c0039t0032 a0005c0039t0032	a0005c0039t0032g0079 a0005c0039t0032g0079	1	248	0.0040	24	c.107 others(41): Show c.1071-818_1071-817insTGTGTGTGTGTGTGTGTGTGAGAG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138094457	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18948.hp2 NA18982.hp2 others(2): Show HG01243.hp2 NA18948.hp2 NA18982.hp2 NA19085.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0051 a0001c0002 a0001c0012 a0001c0051	a0001c0002t0001 a0001c0012t0004 a0001c0051t0007 a0001c0002t0001 a0001c0012t0004 a0001c0051t0007	a0001c0002t0001g0064 a0001c0002t0001g0069 a0001c0002t0001g0238 others(2): Show a0001c0002t0001g0064 a0001c0002t0001g0069 a0001c0002t0001g0238 a0001c0012t0004g0040 a0001c0051t0007g0108	5	248	0.0202	24	c.509 others(43): Show c.5095-2025_5095-2024insAAAAAAAAAAAAAAAAAAGAAGAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2071172	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTTCCTGCCTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01993.hp2 HG02257.hp1 others(14): Show HG00140.hp2 HG01993.hp2 HG02257.hp1 HG02258.hp1 HG02572.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03540.hp1 NA18989.hp2 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0014 a0001c0015 a0001c0017 a0001c0019 a0001c0024 a0001c0032 a0002c0009 a0003c0016	a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 others(12): Show a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0029 a0001c0003t0001 a0001c0003t0018 a0001c0004t0004 a0001c0014t0032 a0001c0015t0034 a0001c0017t0006 a0001c0019t0003 a0001c0024t0003 a0001c0032t0031 a0002c0009t0012 a0003c0016t0011	a0001c0001t0003g0063 a0001c0001t0005g0015 a0001c0001t0005g0097 others(14): Show a0001c0001t0003g0063 a0001c0001t0005g0015 a0001c0001t0005g0097 a0001c0002t0001g0092 a0001c0002t0029g0037 a0001c0003t0001g0009 a0001c0003t0018g0068 a0001c0004t0004g0086 a0001c0014t0032g0023 a0001c0015t0034g0075 a0001c0017t0006g0006 a0001c0019t0003g0071 a0001c0024t0003g0067 a0001c0032t0031g0103 a0002c0009t0012g0061 a0002c0009t0012g0062 a0003c0016t0011g0082	17	104	0.1635	24	c.49+ others(41): Show c.49+17564_49+17565insCCCTCCCTCCCTTCCTGCCTGCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2120692	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0007 a0001c0036t0007	a0001c0036t0007g0100 a0001c0036t0007g0100	1	104	0.0096	24	c.477 others(39): Show c.477+267_477+268insGTGTGTGTGTGTGTGTGTTTGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2177634	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0020 a0001c0033t0020	a0001c0033t0020g0070 a0001c0033t0020g0070	1	104	0.0096	24	c.477 others(43): Show c.477+57225_477+57226insCTTTCTTTCTTTCTTTCTTTCTTT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2378779	G G	GTCCTTCC others(17): Show GTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03579.hp2 HG02896.hp2 HG02897.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0021 a0002c0009t0012 a0001c0001t0021 a0002c0009t0012	a0001c0001t0021g0055 a0002c0009t0012g0061 a0002c0009t0012g0062 a0001c0001t0021g0055 a0002c0009t0012g0061 a0002c0009t0012g0062	3	104	0.0289	24	c.478 others(43): Show c.478-70180_478-70157dupTCCTTCCTTCCTTCCTTCCTTCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2497969	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0069 a0001c0006t0003g0069	1	104	0.0096	24	c.111 others(43): Show c.1113+4594_1113+4617dupCACACACACACACACACACACACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2535704	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0019 a0001c0029t0019	a0001c0029t0019g0060 a0001c0029t0019g0060	1	104	0.0096	24	c.139 others(45): Show c.1391-14233_1391-14210dupAAAAAAAAAAAAAAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53666098	A A	AGGAGGAT others(17): Show AGGAGGATGCTGTAAGCGCAGGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 NA20300.hp2 HG01891.hp1 HG02280.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0017 a0001c0002t0051 a0001c0008t0035 a0001c0001t0017 a0001c0002t0051 a0001c0008t0035	a0001c0001t0017g0110 a0001c0002t0051g0121 a0001c0008t0035g0010 a0001c0001t0017g0110 a0001c0002t0051g0121 a0001c0008t0035g0010	3	210	0.0143	24	c.920 others(39): Show c.920-240_920-217dupGGAGGATGCTGTAAGCGCAGGTGC	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	6/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18963.hp1 HG01978.hp1 NA18963.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0008 a0001c0004t0001 a0001c0003t0008 a0001c0004t0001	a0001c0003t0008g0073 a0001c0004t0001g0150 a0001c0003t0008g0073 a0001c0004t0001g0150	2	210	0.0095	24	c.122 others(43): Show c.1220+8557_1220+8580dupAAAAAAAAAAAAAAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0198 a0001c0002t0028g0198	1	210	0.0048	24	c.485 others(41): Show c.4852+598_4852+599insGTGTGTATATATATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53805938	C C	CTCCTCCC others(17): Show CTCCTCCCTCATCTTCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp2 HG03139.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0055 a0001c0002t0018 a0001c0002t0055	a0001c0002t0018g0111 a0001c0002t0055g0013 a0001c0002t0018g0111 a0001c0002t0055g0013	2	210	0.0095	24	c.580 others(41): Show c.5809+793_5809+816dupTCCTCCCTCATCTTCCCTCCTCCT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	46/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53805939	T T	TCCTCCCT others(17): Show TCCTCCCTCATCTTCCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(163): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0018 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0002c0016 a0003c0019 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(95): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0041 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0057 a0001c0001t0067 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0019 a0001c0002t0025 a0001c0002t0027 a0001c0002t0028 a0001c0002t0030 a0001c0002t0034 a0001c0002t0036 a0001c0002t0051 a0001c0002t0053 a0001c0002t0054 a0001c0002t0060 a0001c0002t0063 a0001c0002t0064 a0001c0002t0065 a0001c0002t0069 a0001c0002t0070 a0001c0002t0082 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0014 a0001c0003t0023 a0001c0003t0039 a0001c0003t0044 a0001c0003t0049 a0001c0003t0052 a0001c0003t0058 a0001c0003t0061 a0001c0004t0001 a0001c0004t0002 a0001c0004t0008 a0001c0004t0011 a0001c0004t0014 a0001c0004t0024 a0001c0004t0039 a0001c0005t0007 a0001c0005t0009 a0001c0005t0040 a0001c0005t0062 a0001c0005t0078 a0001c0006t0001 a0001c0006t0002 a0001c0007t0030 a0001c0007t0031 a0001c0007t0066 a0001c0008t0005 a0001c0008t0007 a0001c0008t0009 a0001c0009t0017 a0001c0009t0029 a0001c0009t0056 a0001c0009t0076 a0001c0010t0002 a0001c0010t0038 a0001c0012t0006 a0001c0012t0027 a0001c0013t0042 a0001c0013t0050 a0001c0014t0002 a0001c0017t0016 a0001c0018t0001 a0001c0022t0001 a0001c0023t0077 a0001c0024t0079 a0001c0025t0080 a0002c0016t0059 a0003c0019t0001 a0005c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0136 others(163): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0091 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0122 a0001c0001t0014g0031 a0001c0001t0017g0110 a0001c0001t0021g0130 a0001c0001t0021g0131 a0001c0001t0024g0069 a0001c0001t0029g0143 a0001c0001t0032g0012 a0001c0001t0032g0206 a0001c0001t0033g0018 a0001c0001t0033g0172 a0001c0001t0041g0125 a0001c0001t0045g0063 a0001c0001t0046g0119 a0001c0001t0047g0066 a0001c0001t0048g0086 a0001c0001t0057g0179 a0001c0001t0067g0045 a0001c0001t0068g0001 a0001c0001t0072g0007 a0001c0001t0073g0203 a0001c0001t0074g0004 a0001c0001t0075g0009 a0001c0002t0005g0071 a0001c0002t0005g0097 a0001c0002t0005g0098 a0001c0002t0005g0103 a0001c0002t0005g0105 a0001c0002t0005g0123 a0001c0002t0005g0124 a0001c0002t0006g0011 a0001c0002t0006g0180 a0001c0002t0006g0189 a0001c0002t0006g0192 a0001c0002t0007g0006 a0001c0002t0007g0035 a0001c0002t0007g0158 a0001c0002t0009g0107 a0001c0002t0009g0210 a0001c0002t0010g0138 a0001c0002t0010g0139 a0001c0002t0010g0190 a0001c0002t0010g0195 a0001c0002t0013g0003 a0001c0002t0013g0044 a0001c0002t0015g0117 a0001c0002t0015g0127 a0001c0002t0016g0129 a0001c0002t0018g0029 a0001c0002t0019g0115 a0001c0002t0019g0126 a0001c0002t0025g0054 a0001c0002t0025g0067 a0001c0002t0027g0186 a0001c0002t0028g0188 a0001c0002t0028g0198 a0001c0002t0030g0196 a0001c0002t0034g0183 a0001c0002t0034g0197 a0001c0002t0036g0033 a0001c0002t0036g0202 a0001c0002t0051g0121 a0001c0002t0053g0159 a0001c0002t0054g0005 a0001c0002t0060g0144 a0001c0002t0063g0191 a0001c0002t0064g0042 a0001c0002t0065g0201 a0001c0002t0069g0039 a0001c0002t0070g0043 a0001c0002t0082g0024 a0001c0003t0001g0140 a0001c0003t0001g0146 a0001c0003t0001g0157 a0001c0003t0001g0161 a0001c0003t0001g0164 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0204 a0001c0003t0002g0051 a0001c0003t0002g0065 a0001c0003t0002g0089 a0001c0003t0002g0093 a0001c0003t0002g0104 a0001c0003t0008g0073 a0001c0003t0014g0022 a0001c0003t0023g0046 a0001c0003t0023g0118 a0001c0003t0039g0025 a0001c0003t0044g0077 a0001c0003t0049g0068 a0001c0003t0052g0120 a0001c0003t0058g0178 a0001c0003t0061g0176 a0001c0004t0001g0134 a0001c0004t0001g0150 a0001c0004t0001g0152 a0001c0004t0001g0154 a0001c0004t0001g0169 a0001c0004t0002g0047 a0001c0004t0002g0050 a0001c0004t0002g0055 a0001c0004t0002g0070 a0001c0004t0002g0078 a0001c0004t0002g0088 a0001c0004t0008g0048 a0001c0004t0008g0082 a0001c0004t0008g0101 a0001c0004t0011g0145 a0001c0004t0011g0153 a0001c0004t0011g0170 a0001c0004t0014g0023 a0001c0004t0024g0090 a0001c0004t0039g0028 a0001c0005t0007g0174 a0001c0005t0009g0080 a0001c0005t0040g0108 a0001c0005t0062g0148 a0001c0005t0078g0027 a0001c0006t0001g0133 a0001c0006t0001g0135 a0001c0006t0001g0151 a0001c0006t0002g0072 a0001c0006t0002g0100 a0001c0007t0030g0008 a0001c0007t0031g0187 a0001c0007t0031g0194 a0001c0007t0066g0199 a0001c0008t0005g0058 a0001c0008t0007g0017 a0001c0008t0009g0076 a0001c0009t0017g0085 a0001c0009t0029g0185 a0001c0009t0056g0184 a0001c0009t0076g0032 a0001c0010t0002g0092 a0001c0010t0038g0019 a0001c0010t0038g0037 a0001c0012t0006g0132 a0001c0012t0027g0193 a0001c0013t0042g0102 a0001c0013t0050g0095 a0001c0014t0002g0114 a0001c0017t0016g0112 a0001c0018t0001g0177 a0001c0022t0001g0165 a0001c0023t0077g0200 a0001c0024t0079g0040 a0001c0025t0080g0041 a0002c0016t0059g0208 a0003c0019t0001g0016 a0005c0015t0001g0141	166	210	0.7905	24	c.580 others(41): Show c.5809+819_5809+842dupCTCCCTCATCTTCCCTCCTCCTCC	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	46/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181619362	A A	AAGGAGGG others(17): Show AAGGAGGGTGTCTAGAGACTGAGGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0054 a0001c0001t0048g0054	1	206	0.0049	24	c.952 others(43): Show c.952-31959_952-31958insCTGAGGGAGGAGGGTGTCTAGAGA	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181795767	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01261.hp2 HG01074.hp2 HG01261.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0004c0007t0046 a0001c0001t0002 a0004c0007t0046	a0001c0001t0002g0001 a0004c0007t0046g0007 a0001c0001t0002g0001 a0004c0007t0046g0007	2	206	0.0097	24	c.620 others(41): Show c.6208+743_6208+744insATATATATATATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1G_chr17_50555715_50632474	50569015	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG03130.hp2 HG01069.hp2 HG01071.hp1 HG03130.hp2	a0001 a0005 a0001 a0005	a0001c0038 a0005c0018 a0001c0038 a0005c0018	a0001c0038t0001 a0005c0018t0001 a0001c0038t0001 a0005c0018t0001	a0001c0038t0001g0153 a0005c0018t0001g0176 a0005c0018t0001g0177 a0001c0038t0001g0153 a0005c0018t0001g0176 a0005c0018t0001g0177	3	246	0.0122	24	c.354 others(37): Show c.354+34_354+35insGTGTGTGTGTGTGTGTGTGTGTTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	2/37			chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50570557	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02559.hp1 HG02647.hp2 others(10): Show HG00558.hp2 HG02559.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG03225.hp1 HG03579.hp1 HG03942.hp2 HG04115.hp2 NA18522.hp1 NA18961.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0009 a0010	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0002c0009 a0002c0032 a0003c0016 a0008c0023 a0009c0029 a0010c0027	a0001c0001t0001 a0001c0003t0004 a0001c0005t0001 others(8): Show a0001c0001t0001 a0001c0003t0004 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0002c0009t0002 a0002c0032t0006 a0003c0016t0002 a0008c0023t0001 a0009c0029t0001 a0010c0027t0004	a0001c0001t0001g0013 a0001c0001t0001g0222 a0001c0003t0004g0173 others(10): Show a0001c0001t0001g0013 a0001c0001t0001g0222 a0001c0003t0004g0173 a0001c0005t0001g0101 a0001c0005t0003g0052 a0001c0006t0001g0208 a0002c0009t0002g0085 a0002c0009t0002g0237 a0002c0032t0006g0217 a0003c0016t0002g0051 a0008c0023t0001g0073 a0009c0029t0001g0138 a0010c0027t0004g0147	13	246	0.0529	24	c.586 others(39): Show c.586+763_586+786dupTGTGTGTGTGTGTGTGTGTGTGTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1H_chr16_1148106_1226768	1154070	G G	GGGGGCGT others(17): Show GGGGGCGTGGGGAGGGTGGGGGCCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA20300.hp1 HG01981.hp2 NA20300.hp1	a0003 a0016 a0003 a0016	a0003c0132 a0016c0026 a0003c0132 a0016c0026	a0003c0132t0030 a0016c0026t0008 a0003c0132t0030 a0016c0026t0008	a0003c0132t0030g0278 a0016c0026t0008g0279 a0003c0132t0030g0278 a0016c0026t0008g0279	2	338	0.0059	24	c.299 others(37): Show c.299+41_299+64dupTGGGGAGGGTGGGGGCCCGGGGCG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39570289	T T	TTCCTTCC others(17): Show TTCCTTCCTTCCTTTCTTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02735.hp2 HG02622.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0004 a0001c0023t0010 a0001c0001t0004 a0001c0023t0010	a0001c0001t0004g0133 a0001c0023t0010g0113 a0001c0001t0004g0133 a0001c0023t0010g0113	2	236	0.0085	24	c.-46 others(33): Show c.-464_-463insTCCTTCCTTCCTTTCTTCCCTCCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding		463		chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39596405	T T	TGGGGGGG others(17): Show TGGGGGGGCAGGGCGGAGGGAGATG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0023 a0023	a0023c0048 a0023c0048	a0023c0048t0002 a0023c0048t0002	a0023c0048t0002g0211 a0023c0048t0002g0211	1	236	0.0042	24	c.237 others(41): Show c.237-1739_237-1716dupGCAGGGCGGAGGGAGATGGGGGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601979	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0016 a0016	a0016c0045 a0016c0045	a0016c0045t0002 a0016c0045t0002	a0016c0045t0002g0220 a0016c0045t0002g0220	1	236	0.0042	24	c.482 others(41): Show c.482+1329_482+1330insCCCTCCCTCCCTCCCTCCCTTCCT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D1_chr7_81941444_82448777	82055930	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0059 a0001c0001t0007g0059	1	144	0.0069	24	c.879 others(41): Show c.879+4497_879+4498insTATATATATATATATATATATACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82055930	G G	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0020	1	144	0.0069	24	c.879 others(41): Show c.879+4497_879+4498insTATATATATATATATATATACACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82137707	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03098.hp1 HG02698.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0086 a0001c0001t0004g0056 a0001c0001t0003g0086 a0001c0001t0004g0056	2	144	0.0139	24	c.355 others(41): Show c.355-1032_355-1031insTTTTTTTTTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar

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