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
CA10_chr17_51625320_52163714	52108190	TTTTTTAT others(9): Show TTTTTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00741.hp2 others(16): Show HG00423.hp2 HG00544.hp2 HG00741.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01884.hp1 HG02055.hp1 HG02056.hp1 HG02572.hp2 HG02896.hp2 HG02965.hp1 HG03041.hp2 HG03453.hp1 HG03516.hp1 HG03704.hp2 NA18950.hp2 NA19011.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0041 a0001c0001t0001g0073 a0001c0001t0001g0111 others(16): Show a0001c0001t0001g0041 a0001c0001t0001g0073 a0001c0001t0001g0111 a0001c0001t0001g0152 a0001c0001t0002g0008 a0001c0001t0002g0049 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0109 a0001c0001t0002g0127 a0001c0001t0003g0110 a0001c0001t0003g0114 a0001c0001t0003g0138 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0010g0112 a0001c0002t0001g0010 a0001c0002t0001g0089 a0001c0002t0001g0144	19	156	0.1218	-16	c.62- others(33): Show c.62-35813_62-35798delTATATATATATAAAAA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52108192	TTTTATAT others(9): Show TTTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00741.hp1 others(22): Show HG00408.hp1 HG00438.hp2 HG00741.hp1 HG01074.hp1 HG01243.hp1 HG01358.hp1 HG01516.hp1 HG02056.hp2 HG02273.hp1 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02818.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18906.hp2 NA18964.hp1 NA18974.hp1 NA19000.hp2 NA19011.hp1 NA19058.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0051 others(22): Show a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0039 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0003g0101 a0001c0001t0004g0100 a0001c0002t0001g0040 a0001c0002t0001g0053 a0001c0002t0001g0060 a0001c0002t0001g0113	25	156	0.1603	-16	c.62- others(33): Show c.62-35815_62-35800delTATATATATATATAAA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA1_chr8_85322608_85383113	85338632	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01099.hp1 others(10): Show HG00099.hp1 HG01069.hp1 HG01099.hp1 HG01256.hp2 HG01258.hp1 HG01978.hp2 HG02015.hp2 HG02698.hp1 HG03017.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0048 a0001c0001t0002g0024 a0001c0001t0002g0025 others(8): Show a0001c0001t0001g0048 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0059 a0001c0001t0002g0081 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0183 a0001c0001t0002g0194 a0001c0001t0002g0223 a0001c0001t0004g0235	13	324	0.0401	-16	c.38- others(29): Show c.38-199_38-184delGAAAGAAAGAAAGAAA	CA1	ENSG00000133742.14	transcript	ENST00000523022.6	protein_coding	2/7			chr8	TogoVar
CA1_chr8_85322608_85383113	85376658	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	324	0.0031	-16	c.-25 others(33): Show c.-25+1372_-25+1387delATTTATTTATTTATTT	CA1	ENSG00000133742.14	transcript	ENST00000523022.6	protein_coding	1/7			chr8	TogoVar
CA4_chr17_60144973_60164546	60162546	TACACACA others(9): Show TACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0006 a0003c0004t0001g0006	1	380	0.0026	-16	c.31 others(27): Show c.3123_*3138delACACACACACACACAC	CA4	ENSG00000167434.10	transcript	ENST00000300900.9	protein_coding		3001		chr17	TogoVar
CA5A_chr16_87883013_87941529	87892544	AATAATAA others(9): Show AATAATAATAATAAATT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0219 a0001c0003t0002g0219	1	400	0.0025	-16	c.619 others(31): Show c.619-606_619-591delAATTTATTATTATTAT	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	5/6			chr16	TogoVar
CA5A_chr16_87883013_87941529	87899919	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	400	0.0025	-16	c.618 others(33): Show c.618+1977_618+1992delTTTTTTTTTTTTTTTT	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	5/6			chr16	TogoVar
CA6_chr1_8940868_8980092	8959457	GGCACCTG others(9): Show GGCACCTGCCACCACGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02615.hp1 others(9): Show HG02055.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG06807.hp1 NA19030.hp2	a0002 a0004 a0002 a0004	a0002c0014 a0002c0015 a0002c0025 others(3): Show a0002c0014 a0002c0015 a0002c0025 a0004c0008 a0004c0017 a0004c0026	a0002c0014t0001 a0002c0015t0001 a0002c0025t0001 others(4): Show a0002c0014t0001 a0002c0015t0001 a0002c0025t0001 a0004c0008t0001 a0004c0008t0009 a0004c0017t0001 a0004c0026t0001	a0002c0014t0001g0134 a0002c0014t0001g0200 a0002c0014t0001g0201 others(9): Show a0002c0014t0001g0134 a0002c0014t0001g0200 a0002c0014t0001g0201 a0002c0014t0001g0263 a0002c0015t0001g0130 a0002c0025t0001g0016 a0004c0008t0001g0221 a0004c0008t0009g0220 a0004c0017t0001g0222 a0004c0017t0001g0223 a0004c0017t0001g0228 a0004c0026t0001g0023	12	452	0.0266	-16	c.501 others(31): Show c.501+456_501+471delGCACCTGCCACCACGT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7			chr1	TogoVar
CA6_chr1_8940868_8980092	8960743	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02896.hp1 others(3): Show HG02055.hp1 HG02572.hp1 HG02896.hp1 HG02897.hp1 NA18906.hp2 NA19240.hp1	a0004 a0004	a0004c0008 a0004c0009 a0004c0008 a0004c0009	a0004c0008t0001 a0004c0009t0001 a0004c0008t0001 a0004c0009t0001	a0004c0008t0001g0412 a0004c0009t0001g0207 a0004c0009t0001g0208 others(3): Show a0004c0008t0001g0412 a0004c0009t0001g0207 a0004c0009t0001g0208 a0004c0009t0001g0209 a0004c0009t0001g0218 a0004c0009t0001g0219	6	452	0.0133	-16	c.501 others(33): Show c.501+1773_501+1788delCACACACACACACACA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8973710	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA19062.hp2 HG01256.hp1 NA19062.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0003 a0001c0006 a0003c0003	a0001c0006t0002 a0003c0003t0002 a0001c0006t0002 a0003c0003t0002	a0001c0006t0002g0414 a0003c0003t0002g0068 a0001c0006t0002g0414 a0003c0003t0002g0068	2	452	0.0044	-16	c.845 others(31): Show c.845-850_845-835delCTTTCTTTCTTTCTTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8977700	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18985.hp2 NA18991.hp1 others(4): Show NA18950.hp1 NA18985.hp2 NA18991.hp1 NA19078.hp1 NA19078.hp2 NA19089.hp1 NA20129.hp1	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0007	a0002c0001 a0003c0003 a0006c0004 others(1): Show a0002c0001 a0003c0003 a0006c0004 a0007c0007	a0002c0001t0001 a0003c0003t0001 a0006c0004t0001 others(1): Show a0002c0001t0001 a0003c0003t0001 a0006c0004t0001 a0007c0007t0001	a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0262 others(4): Show a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0262 a0003c0003t0001g0049 a0006c0004t0001g0137 a0007c0007t0001g0155 a0007c0007t0001g0165	7	452	0.0155	-16	c.29 others(27): Show c.2997_*3012delAAAGAAAGAAAGAAAG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		2609		chr1	TogoVar
CA6_chr1_8940868_8980092	8978636	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG01069.hp1 others(81): Show HG00408.hp2 HG00558.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02486.hp2 HG02602.hp1 HG02698.hp1 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA19001.hp1 NA19004.hp2 NA19011.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19075.hp1 NA19076.hp2 NA19080.hp2 NA19084.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0013	a0001c0002 a0001c0006 a0001c0030 others(9): Show a0001c0002 a0001c0006 a0001c0030 a0002c0001 a0003c0003 a0004c0008 a0005c0005 a0006c0004 a0007c0007 a0007c0031 a0010c0022 a0013c0033	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(12): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0006t0001 a0001c0030t0001 a0002c0001t0001 a0003c0003t0001 a0004c0008t0001 a0005c0005t0001 a0006c0004t0001 a0006c0004t0004 a0007c0007t0001 a0007c0031t0001 a0010c0022t0001 a0013c0033t0001	a0001c0002t0001g0011 a0001c0002t0001g0177 a0001c0002t0001g0234 others(80): Show a0001c0002t0001g0011 a0001c0002t0001g0177 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0277 a0001c0002t0001g0296 a0001c0002t0001g0298 a0001c0002t0001g0305 a0001c0002t0001g0334 a0001c0002t0001g0345 a0001c0002t0001g0346 a0001c0002t0001g0365 a0001c0002t0001g0368 a0001c0002t0001g0369 a0001c0002t0001g0370 a0001c0002t0001g0385 a0001c0002t0001g0391 a0001c0002t0001g0392 a0001c0002t0001g0393 a0001c0002t0001g0394 a0001c0002t0001g0400 a0001c0002t0001g0401 a0001c0002t0001g0402 a0001c0002t0001g0421 a0001c0002t0002g0169 a0001c0002t0004g0172 a0001c0002t0004g0186 a0001c0002t0004g0378 a0001c0002t0004g0379 a0001c0002t0004g0383 a0001c0002t0004g0386 a0001c0002t0004g0409 a0001c0006t0001g0340 a0001c0006t0001g0396 a0001c0030t0001g0289 a0002c0001t0001g0173 a0002c0001t0001g0178 a0002c0001t0001g0238 a0002c0001t0001g0282 a0002c0001t0001g0283 a0002c0001t0001g0284 a0002c0001t0001g0294 a0002c0001t0001g0320 a0002c0001t0001g0336 a0002c0001t0001g0397 a0003c0003t0001g0024 a0003c0003t0001g0035 a0003c0003t0001g0039 a0003c0003t0001g0042 a0003c0003t0001g0063 a0003c0003t0001g0065 a0003c0003t0001g0067 a0003c0003t0001g0070 a0004c0008t0001g0007 a0004c0008t0001g0202 a0005c0005t0001g0047 a0005c0005t0001g0054 a0005c0005t0001g0058 a0005c0005t0001g0101 a0005c0005t0001g0113 a0005c0005t0001g0121 a0006c0004t0001g0138 a0006c0004t0001g0144 a0006c0004t0001g0149 a0006c0004t0001g0151 a0006c0004t0001g0152 a0006c0004t0001g0157 a0006c0004t0001g0160 a0006c0004t0001g0164 a0006c0004t0001g0190 a0006c0004t0001g0192 a0006c0004t0001g0193 a0006c0004t0004g0161 a0007c0007t0001g0139 a0007c0031t0001g0140 a0010c0022t0001g0420 a0013c0033t0001g0116	84	452	0.1858	-16	c.39 others(27): Show c.3933_*3948delAAAAAAAAAAAAAAAA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		3545		chr1	TogoVar
CA7_chr16_66839414_66859147	66852576	GAAAAGAA others(9): Show GAAAAGAAAAGAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00738.hp2 others(87): Show HG00558.hp2 HG00609.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19081.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(24): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0036 a0001c0001t0004g0023	90	394	0.2284	-16	c.517 others(31): Show c.517-121_517-106delAAAAAAGAAAAGAAAA	CA7	ENSG00000168748.14	transcript	ENST00000338437.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
CA8_chr8_60180412_60286400	60190432	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG00741.hp2 others(15): Show HG00423.hp2 HG00673.hp1 HG00741.hp2 HG02056.hp2 HG02071.hp1 HG02258.hp2 HG02523.hp2 HG02647.hp2 HG02896.hp2 HG03041.hp2 HG03225.hp2 HG03486.hp1 HG03579.hp2 HG03669.hp2 HG04228.hp1 NA18993.hp2 NA18998.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0015 a0001c0001t0018 a0001c0002t0011 others(4): Show a0001c0001t0015 a0001c0001t0018 a0001c0002t0011 a0001c0002t0013 a0001c0002t0039 a0001c0002t0046 a0001c0003t0012	a0001c0001t0015g0219 a0001c0001t0015g0245 a0001c0001t0015g0294 others(14): Show a0001c0001t0015g0219 a0001c0001t0015g0245 a0001c0001t0015g0294 a0001c0001t0018g0016 a0001c0001t0018g0037 a0001c0002t0011g0102 a0001c0002t0013g0108 a0001c0002t0013g0172 a0001c0002t0013g0177 a0001c0002t0013g0182 a0001c0002t0013g0184 a0001c0002t0039g0179 a0001c0002t0046g0201 a0001c0003t0012g0001 a0001c0003t0012g0020 a0001c0003t0012g0021 a0001c0003t0012g0022	18	344	0.0523	-16	c.36 others(31): Show c.36-463_*36-448delATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CAAP1_chr9_26835685_26897802	26847198	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02258.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0073 a0001c0001t0001g0046 a0001c0001t0001g0073	2	372	0.0054	-16	c.740 others(33): Show c.740-4567_740-4552delAAAAAAAAAAAAAAAA	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	5/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49329542	AAAATATA others(9): Show AAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18939.hp1 NA19000.hp2 HG01168.hp2 NA18939.hp1 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0138 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0138 a0001c0002t0001g0203 a0001c0002t0001g0204	3	324	0.0093	-16	c.834 others(33): Show c.834+2389_834+2404delATATATATATATATTT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49329544	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01106.hp1 HG01978.hp1 others(23): Show HG00438.hp2 HG01106.hp1 HG01978.hp1 HG02132.hp1 HG02451.hp1 HG02723.hp1 HG02723.hp2 HG03017.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp2 HG03710.hp1 NA18940.hp1 NA18943.hp1 NA18963.hp2 NA18974.hp2 NA18979.hp1 NA18981.hp2 NA18988.hp2 NA18994.hp1 NA19004.hp1 NA19010.hp2 NA19030.hp1 NA19084.hp2 NA19085.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008	a0001c0001t0001g0050 a0001c0001t0001g0265 a0001c0001t0001g0312 others(23): Show a0001c0001t0001g0050 a0001c0001t0001g0265 a0001c0001t0001g0312 a0001c0001t0002g0176 a0001c0001t0002g0311 a0001c0001t0003g0012 a0001c0001t0003g0022 a0001c0001t0003g0043 a0001c0001t0004g0268 a0001c0002t0001g0066 a0001c0002t0001g0085 a0001c0002t0001g0098 a0001c0002t0001g0126 a0001c0002t0001g0147 a0001c0002t0001g0158 a0001c0002t0001g0186 a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0240 a0001c0002t0001g0322 a0001c0002t0003g0025 a0001c0002t0003g0031 a0001c0002t0003g0037 a0001c0002t0003g0044 a0001c0002t0004g0123 a0001c0002t0008g0105	26	324	0.0803	-16	c.834 others(33): Show c.834+2387_834+2402delATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230748825	AAAAAAAA others(9): Show AAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp2 HG02572.hp1 others(5): Show HG01109.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02922.hp2 NA19063.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0012 a0001c0001t0070 others(2): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0070 a0001c0001t0071 a0003c0003t0012	a0001c0001t0003g0218 a0001c0001t0012g0173 a0001c0001t0012g0174 others(5): Show a0001c0001t0003g0218 a0001c0001t0012g0173 a0001c0001t0012g0174 a0001c0001t0012g0175 a0001c0001t0012g0238 a0001c0001t0070g0170 a0001c0001t0071g0177 a0003c0003t0012g0178	8	342	0.0234	-16	c.-43 others(35): Show c.-43-11132_-43-11117delAAAAAATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748827	AAAAAATA others(9): Show AAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02257.hp2 HG02647.hp2 others(6): Show HG00099.hp2 HG02257.hp2 HG02647.hp2 HG02976.hp1 HG03041.hp2 HG03195.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0021 others(5): Show a0001c0001t0003 a0001c0001t0020 a0001c0001t0021 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0072	a0001c0001t0003g0207 a0001c0001t0020g0203 a0001c0001t0020g0204 others(6): Show a0001c0001t0003g0207 a0001c0001t0020g0203 a0001c0001t0020g0204 a0001c0001t0021g0169 a0001c0001t0065g0031 a0001c0001t0066g0202 a0001c0001t0067g0206 a0001c0001t0068g0199 a0001c0001t0072g0176	9	342	0.0263	-16	c.-43 others(35): Show c.-43-11130_-43-11115delAAAATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748829	AAAATATA others(9): Show AAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01346.hp1 others(6): Show HG01168.hp2 HG01169.hp1 HG01346.hp1 HG02280.hp1 HG02897.hp1 HG02965.hp2 HG03239.hp1 HG03710.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0021 a0001c0001t0031 others(3): Show a0001c0001t0006 a0001c0001t0021 a0001c0001t0031 a0001c0001t0034 a0001c0001t0062 a0001c0001t0063	a0001c0001t0006g0192 a0001c0001t0006g0196 a0001c0001t0006g0201 others(6): Show a0001c0001t0006g0192 a0001c0001t0006g0196 a0001c0001t0006g0201 a0001c0001t0021g0166 a0001c0001t0021g0168 a0001c0001t0031g0030 a0001c0001t0034g0190 a0001c0001t0062g0200 a0001c0001t0063g0193	9	342	0.0263	-16	c.-43 others(35): Show c.-43-11128_-43-11113delAATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230756657	GTTTGTTT others(9): Show GTTTGTTTATTTATTTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01109.hp2 HG01168.hp2 others(66): Show HG00099.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01891.hp2 HG01978.hp2 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02809.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03540.hp2 HG03710.hp1 HG03927.hp1 NA18906.hp1 NA18943.hp1 NA18951.hp1 NA18952.hp1 NA18962.hp1 NA18963.hp1 NA18966.hp2 NA18971.hp1 NA18972.hp1 NA18978.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19054.hp1 NA19063.hp1 NA19065.hp1 NA19074.hp2 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0003 a0001c0001 a0002c0004 a0003c0003	a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 others(19): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0072 a0002c0004t0033 a0003c0003t0012	a0001c0001t0003g0180 a0001c0001t0003g0186 a0001c0001t0003g0188 others(66): Show a0001c0001t0003g0180 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0006g0029 a0001c0001t0006g0192 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0196 a0001c0001t0006g0197 a0001c0001t0006g0201 a0001c0001t0006g0211 a0001c0001t0006g0217 a0001c0001t0006g0225 a0001c0001t0012g0173 a0001c0001t0012g0174 a0001c0001t0012g0175 a0001c0001t0012g0238 a0001c0001t0016g0165 a0001c0001t0016g0184 a0001c0001t0016g0185 a0001c0001t0020g0203 a0001c0001t0020g0204 a0001c0001t0020g0205 a0001c0001t0021g0166 a0001c0001t0021g0168 a0001c0001t0021g0169 a0001c0001t0029g0304 a0001c0001t0031g0030 a0001c0001t0031g0198 a0001c0001t0032g0322 a0001c0001t0032g0323 a0001c0001t0033g0172 a0001c0001t0034g0190 a0001c0001t0062g0200 a0001c0001t0063g0193 a0001c0001t0064g0183 a0001c0001t0065g0031 a0001c0001t0066g0202 a0001c0001t0067g0206 a0001c0001t0068g0199 a0001c0001t0069g0167 a0001c0001t0072g0176 a0002c0004t0033g0171 a0003c0003t0012g0178	69	342	0.2018	-16	c.-43 others(33): Show c.-43-3298_-43-3283delGTTTATTTATTTATTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61710253	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03688.hp2 HG03834.hp1 others(4): Show HG00609.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 NA18960.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0082 a0001c0001t0004g0354 a0001c0001t0004g0360 others(4): Show a0001c0001t0001g0082 a0001c0001t0004g0354 a0001c0001t0004g0360 a0001c0001t0004g0361 a0001c0001t0004g0362 a0001c0001t0004g0363 a0001c0001t0004g0366	7	374	0.0187	-16	c.552 others(35): Show c.552+19659_552+19674delGTGTGTGTGTGTGTGT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24011127	ACGCACAC others(9): Show ACGCACACGCGCACGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0158 a0003c0005t0001g0158	1	268	0.0037	-16	c.-31 others(25): Show c.-314_-299delCGCACACGCGCACGCG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		176		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011141	GCGCGCAC others(9): Show GCGCGCACACACGCGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02523.hp2 HG02965.hp1 others(10): Show HG00408.hp2 HG02523.hp2 HG02965.hp1 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18980.hp1 NA18990.hp2 NA19005.hp1 NA19009.hp1 NA19057.hp2	a0001 a0010 a0001 a0010	a0001c0004 a0001c0009 a0001c0011 others(2): Show a0001c0004 a0001c0009 a0001c0011 a0001c0030 a0010c0033	a0001c0004t0001 a0001c0009t0001 a0001c0011t0001 others(2): Show a0001c0004t0001 a0001c0009t0001 a0001c0011t0001 a0001c0030t0001 a0010c0033t0005	a0001c0004t0001g0198 a0001c0004t0001g0201 a0001c0004t0001g0205 others(10): Show a0001c0004t0001g0198 a0001c0004t0001g0201 a0001c0004t0001g0205 a0001c0004t0001g0208 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0009t0001g0161 a0001c0009t0001g0196 a0001c0009t0001g0204 a0001c0011t0001g0206 a0001c0011t0001g0218 a0001c0030t0001g0211 a0010c0033t0005g0197	13	268	0.0485	-16	c.-30 others(25): Show c.-300_-285delCGCGCACACACGCGCA	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		162		chr22	TogoVar
CABLES1_chr18_23130485_23265470	23174821	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02257.hp2 others(5): Show HG01243.hp1 HG02055.hp1 HG02257.hp2 HG02895.hp2 HG02922.hp1 HG03195.hp2 HG03516.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 others(4): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0052 a0001c0001t0056 a0003c0006t0048 a0003c0006t0057	a0001c0001t0007g0268 a0001c0001t0007g0269 a0001c0001t0008g0163 others(5): Show a0001c0001t0007g0268 a0001c0001t0007g0269 a0001c0001t0008g0163 a0001c0001t0016g0270 a0001c0001t0052g0001 a0001c0001t0056g0010 a0003c0006t0048g0264 a0003c0006t0057g0266	8	278	0.0288	-16	c.846 others(35): Show c.846-13992_846-13977delATATATATATATATAT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23191906	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG02897.hp2 HG02145.hp1 HG02622.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0213 a0001c0003t0002g0076 a0001c0003t0002g0237 a0001c0001t0002g0213 a0001c0003t0002g0076 a0001c0003t0002g0237	3	278	0.0108	-16	c.918 others(33): Show c.918-2522_918-2507delAAAAAAAAAAAAAAAA	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES2_chr20_62383634_62412285	62385102	TCAAACAA others(9): Show TCAAACAAACAAACAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	400	0.0025	-16	c.58 others(27): Show c.5853_*5868delTTTGTTTGTTTGTTTG	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding		3531		chr20	TogoVar
CABP1_chr12_120635626_120672324	120670754	CAAAAAGA others(9): Show CAAAAAGAAAAGCTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	418	0.0024	-16	c.38 others(27): Show c.3855_*3870delAAAAAGAAAAGCTCTT	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding		3431		chr12	TogoVar
CABP2_chr11_67513912_67528446	67514884	TTTTCTTT others(9): Show TTTTCTTTTCTTTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	-16	c.42 others(27): Show c.4239_*4254delGAAAAAAGAAAAGAAA	CABP2	ENSG00000167791.14	transcript	ENST00000294288.5	protein_coding		4027		chr11	TogoVar
CABP2_chr11_67513912_67528446	67515734	GATCTACC others(9): Show GATCTACCTATCTATCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02615.hp1 HG02818.hp2 others(2): Show HG01255.hp1 HG02615.hp1 HG02818.hp2 HG03516.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	374	0.0134	-16	c.33 others(27): Show c.3389_*3404delAGATAGATAGGTAGAT	CABP2	ENSG00000167791.14	transcript	ENST00000294288.5	protein_coding		3177		chr11	TogoVar
CACHD1_chr1_64465129_64698053	64466426	GTGTATAT others(9): Show GTGTATATATACACATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	166	0.0060	-16	c.-43 others(27): Show c.-4318_-4303delTGTATATATACACATA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding		3702		chr1	TogoVar
CACHD1_chr1_64465129_64698053	64643036	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	166	0.0060	-16	c.115 others(35): Show c.1156+1087_1156+1102delAAAAAAAAAAAAAAAA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13310479	AAAAAAAA others(9): Show AAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01952.hp2 HG01167.hp2 HG01952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0194 a0002c0003t0002g0126 a0001c0001t0001g0194 a0002c0003t0002g0126	2	218	0.0092	-16	c.166 others(35): Show c.1669-1967_1669-1952delATATATTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346616	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02896.hp1 HG03453.hp2 HG01070.hp1 HG02896.hp1 HG03453.hp2	a0001 a0003 a0021 a0001 a0003 a0021	a0001c0018 a0003c0077 a0021c0092 a0001c0018 a0003c0077 a0021c0092	a0001c0018t0001 a0003c0077t0039 a0021c0092t0016 a0001c0018t0001 a0003c0077t0039 a0021c0092t0016	a0001c0018t0001g0056 a0003c0077t0039g0022 a0021c0092t0016g0203 a0001c0018t0001g0056 a0003c0077t0039g0022 a0021c0092t0016g0203	3	218	0.0138	-16	c.979 others(35): Show c.979-10723_979-10708delTATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346652	ATATATAT others(9): Show ATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02630.hp1 HG01123.hp1 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0034 a0001c0004 a0001c0034	a0001c0004t0001 a0001c0034t0001 a0001c0004t0001 a0001c0034t0001	a0001c0004t0001g0018 a0001c0034t0001g0072 a0001c0004t0001g0018 a0001c0034t0001g0072	2	218	0.0092	-16	c.979 others(35): Show c.979-10759_979-10744delAATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13380745	GTTTGTTT others(9): Show GTTTGTTTATTTATTTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01884.hp2 HG01934.hp1 others(31): Show HG00099.hp2 HG01884.hp2 HG01934.hp1 HG02040.hp2 HG02055.hp2 HG02129.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02976.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp1 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0007 a0011 a0015 a0017 a0021 a0033 a0034 a0036 a0042 a0043 a0044	a0001c0004 a0001c0005 a0001c0006 others(27): Show a0001c0004 a0001c0005 a0001c0006 a0001c0016 a0001c0031 a0001c0034 a0001c0037 a0001c0072 a0001c0096 a0001c0098 a0001c0120 a0002c0002 a0002c0085 a0002c0101 a0003c0015 a0004c0007 a0004c0047 a0007c0118 a0011c0043 a0011c0103 a0015c0021 a0017c0040 a0017c0127 a0021c0092 a0033c0088 a0034c0081 a0036c0052 a0042c0097 a0043c0091 a0044c0112	a0001c0004t0001 a0001c0005t0047 a0001c0006t0005 others(30): Show a0001c0004t0001 a0001c0005t0047 a0001c0006t0005 a0001c0006t0008 a0001c0016t0004 a0001c0031t0036 a0001c0034t0001 a0001c0037t0004 a0001c0072t0037 a0001c0096t0025 a0001c0098t0001 a0001c0120t0004 a0002c0002t0003 a0002c0002t0015 a0002c0085t0005 a0002c0101t0006 a0003c0015t0008 a0004c0007t0001 a0004c0047t0001 a0007c0118t0002 a0011c0043t0015 a0011c0103t0004 a0015c0021t0004 a0015c0021t0010 a0017c0040t0001 a0017c0127t0001 a0021c0092t0016 a0033c0088t0001 a0034c0081t0019 a0036c0052t0006 a0042c0097t0005 a0043c0091t0005 a0044c0112t0012	a0001c0004t0001g0078 a0001c0005t0047g0024 a0001c0006t0005g0110 others(31): Show a0001c0004t0001g0078 a0001c0005t0047g0024 a0001c0006t0005g0110 a0001c0006t0008g0148 a0001c0016t0004g0047 a0001c0016t0004g0074 a0001c0031t0036g0215 a0001c0034t0001g0068 a0001c0037t0004g0021 a0001c0072t0037g0213 a0001c0096t0025g0003 a0001c0098t0001g0112 a0001c0120t0004g0014 a0002c0002t0003g0181 a0002c0002t0015g0160 a0002c0085t0005g0085 a0002c0101t0006g0150 a0003c0015t0008g0036 a0004c0007t0001g0049 a0004c0047t0001g0178 a0007c0118t0002g0052 a0011c0043t0015g0043 a0011c0103t0004g0200 a0015c0021t0004g0044 a0015c0021t0010g0045 a0017c0040t0001g0008 a0017c0127t0001g0007 a0021c0092t0016g0203 a0033c0088t0001g0207 a0034c0081t0019g0152 a0036c0052t0006g0154 a0042c0097t0005g0059 a0043c0091t0005g0027 a0044c0112t0012g0206	34	218	0.1560	-16	c.540 others(33): Show c.540-8982_540-8967delTAAATAAATAAACAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13380749	GTTTATTT others(9): Show GTTTATTTATTTATTTA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0204 a0001c0005t0008g0204	1	218	0.0046	-16	c.540 others(33): Show c.540-8986_540-8971delTAAATAAATAAATAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13402869	CACACATA others(9): Show CACACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01070.hp1 HG02040.hp1 others(2): Show HG00438.hp1 HG01070.hp1 HG02040.hp1 HG02129.hp2 HG03942.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0005 a0001c0018 a0003c0054 others(2): Show a0001c0005 a0001c0018 a0003c0054 a0004c0007 a0007c0009	a0001c0005t0001 a0001c0018t0001 a0003c0054t0043 others(2): Show a0001c0005t0001 a0001c0018t0001 a0003c0054t0043 a0004c0007t0004 a0007c0009t0003	a0001c0005t0001g0187 a0001c0018t0001g0056 a0003c0054t0043g0060 others(2): Show a0001c0005t0001g0187 a0001c0018t0001g0056 a0003c0054t0043g0060 a0004c0007t0004g0105 a0007c0009t0003g0031	5	218	0.0229	-16	c.540 others(35): Show c.540-31106_540-31091delATATATATATATGTGT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13402871	CACATATA others(9): Show CACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0160 a0002c0002t0015g0160	1	218	0.0046	-16	c.540 others(35): Show c.540-31108_540-31093delATATATATATATATGT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13402873	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02056.hp1 NA18946.hp2 others(2): Show HG00609.hp2 HG02056.hp1 NA18946.hp2 NA18968.hp2 NA18973.hp1	a0001 a0007 a0009 others(1): Show a0001 a0007 a0009 a0013	a0001c0026 a0007c0075 a0009c0014 others(2): Show a0001c0026 a0007c0075 a0009c0014 a0009c0076 a0013c0089	a0001c0026t0001 a0007c0075t0003 a0009c0014t0046 others(2): Show a0001c0026t0001 a0007c0075t0003 a0009c0014t0046 a0009c0076t0002 a0013c0089t0001	a0001c0026t0001g0144 a0007c0075t0003g0190 a0009c0014t0046g0176 others(2): Show a0001c0026t0001g0144 a0007c0075t0003g0190 a0009c0014t0046g0176 a0009c0076t0002g0108 a0013c0089t0001g0143	5	218	0.0229	-16	c.540 others(35): Show c.540-31110_540-31095delATATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406465	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0039 a0039	a0039c0068 a0039c0068	a0039c0068t0001 a0039c0068t0001	a0039c0068t0001g0171 a0039c0068t0001g0171	1	218	0.0046	-16	c.540 others(35): Show c.540-34702_540-34687delTATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413895	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0007 a0007	a0007c0100 a0007c0100	a0007c0100t0017 a0007c0100t0017	a0007c0100t0017g0039 a0007c0100t0017g0039	1	218	0.0046	-16	c.539 others(35): Show c.539+38965_539+38980delCTTTCTTTCTTTCTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13482848	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19030.hp2 HG01109.hp2 NA19030.hp2	a0001 a0036 a0001 a0036	a0001c0001 a0036c0052 a0001c0001 a0036c0052	a0001c0001t0004 a0036c0052t0006 a0001c0001t0004 a0036c0052t0006	a0001c0001t0004g0155 a0036c0052t0006g0154 a0001c0001t0004g0155 a0036c0052t0006g0154	2	218	0.0092	-16	c.293 others(35): Show c.293+23068_293+23083delCACACACACACACACA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13490692	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01070.hp2 others(54): Show HG00099.hp2 HG00140.hp2 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01256.hp2 HG01496.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02895.hp2 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18973.hp1 NA18977.hp2 NA18980.hp1 NA19000.hp2 NA19079.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0013 a0014 a0015 a0017 a0021 a0024 a0039 a0040 a0041 a0043	a0001c0001 a0001c0004 a0001c0005 others(40): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0016 a0001c0018 a0001c0031 a0001c0037 a0001c0049 a0001c0099 a0001c0120 a0001c0126 a0002c0002 a0002c0003 a0002c0010 a0002c0030 a0002c0086 a0003c0015 a0003c0073 a0003c0077 a0003c0084 a0003c0105 a0004c0093 a0005c0066 a0006c0011 a0006c0060 a0006c0121 a0007c0100 a0008c0008 a0008c0012 a0011c0025 a0011c0043 a0011c0103 a0013c0089 a0014c0048 a0015c0021 a0017c0127 a0021c0090 a0024c0059 a0039c0068 a0040c0069 a0041c0067 a0043c0091	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(50): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0005t0004 a0001c0005t0005 a0001c0005t0010 a0001c0005t0047 a0001c0006t0001 a0001c0006t0005 a0001c0006t0029 a0001c0016t0004 a0001c0018t0001 a0001c0031t0036 a0001c0037t0004 a0001c0049t0001 a0001c0099t0012 a0001c0120t0004 a0001c0126t0022 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0033 a0002c0003t0003 a0002c0010t0003 a0002c0030t0002 a0002c0086t0003 a0003c0015t0008 a0003c0073t0042 a0003c0077t0039 a0003c0084t0016 a0003c0105t0030 a0004c0093t0010 a0005c0066t0001 a0006c0011t0002 a0006c0060t0002 a0006c0121t0041 a0007c0100t0017 a0008c0008t0002 a0008c0012t0003 a0011c0025t0011 a0011c0043t0015 a0011c0103t0004 a0013c0089t0001 a0014c0048t0001 a0015c0021t0004 a0015c0021t0010 a0017c0127t0001 a0021c0090t0007 a0024c0059t0023 a0039c0068t0001 a0040c0069t0014 a0041c0067t0002 a0043c0091t0005	a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 others(54): Show a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0004g0013 a0001c0001t0004g0017 a0001c0004t0001g0018 a0001c0004t0001g0080 a0001c0005t0004g0201 a0001c0005t0005g0028 a0001c0005t0010g0202 a0001c0005t0047g0024 a0001c0006t0001g0032 a0001c0006t0005g0110 a0001c0006t0029g0136 a0001c0016t0004g0047 a0001c0018t0001g0037 a0001c0031t0036g0215 a0001c0037t0004g0021 a0001c0049t0001g0012 a0001c0099t0012g0029 a0001c0120t0004g0014 a0001c0126t0022g0006 a0002c0002t0002g0095 a0002c0002t0003g0181 a0002c0002t0006g0142 a0002c0002t0033g0082 a0002c0003t0003g0061 a0002c0010t0003g0023 a0002c0030t0002g0165 a0002c0086t0003g0035 a0003c0015t0008g0036 a0003c0073t0042g0026 a0003c0077t0039g0022 a0003c0084t0016g0145 a0003c0105t0030g0141 a0004c0093t0010g0046 a0005c0066t0001g0034 a0006c0011t0002g0133 a0006c0060t0002g0016 a0006c0121t0041g0042 a0007c0100t0017g0039 a0008c0008t0002g0033 a0008c0012t0003g0015 a0011c0025t0011g0038 a0011c0043t0015g0043 a0011c0103t0004g0200 a0013c0089t0001g0143 a0014c0048t0001g0146 a0015c0021t0004g0044 a0015c0021t0010g0045 a0017c0127t0001g0007 a0021c0090t0007g0162 a0024c0059t0023g0001 a0039c0068t0001g0171 a0040c0069t0014g0040 a0041c0067t0002g0172 a0043c0091t0005g0027	57	218	0.2615	-16	c.293 others(35): Show c.293+15224_293+15239delTTTCTTTCTTTCTTTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13490865	AAAGGAAG others(9): Show AAAGGAAGGAAAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01257.hp2 others(6): Show HG00140.hp2 HG00735.hp2 HG01257.hp2 HG01516.hp2 HG02280.hp1 HG02896.hp1 HG03130.hp1 NA19030.hp1 NA20129.hp1	a0001 a0002 a0016 others(2): Show a0001 a0002 a0016 a0017 a0021	a0001c0004 a0002c0002 a0002c0030 others(6): Show a0001c0004 a0002c0002 a0002c0030 a0002c0085 a0002c0086 a0002c0104 a0016c0028 a0017c0040 a0021c0092	a0001c0004t0011 a0002c0002t0015 a0002c0030t0002 others(6): Show a0001c0004t0011 a0002c0002t0015 a0002c0030t0002 a0002c0085t0005 a0002c0086t0003 a0002c0104t0040 a0016c0028t0007 a0017c0040t0001 a0021c0092t0016	a0001c0004t0011g0157 a0002c0002t0015g0160 a0002c0030t0002g0158 others(6): Show a0001c0004t0011g0157 a0002c0002t0015g0160 a0002c0030t0002g0158 a0002c0085t0005g0085 a0002c0086t0003g0035 a0002c0104t0040g0156 a0016c0028t0007g0084 a0017c0040t0001g0008 a0021c0092t0016g0203	9	218	0.0413	-16	c.293 others(35): Show c.293+15051_293+15066delCCTCCTTTCCTTCCTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13496075	TCCATCCA others(9): Show TCCATCCATCCATCCAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0021 a0021	a0021c0090 a0021c0090	a0021c0090t0007 a0021c0090t0007	a0021c0090t0007g0162 a0021c0090t0007g0162	1	218	0.0046	-16	c.293 others(33): Show c.293+9841_293+9856delGTGGATGGATGGATGG	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497517	AAAAAATA others(9): Show AAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00099.hp1 HG00639.hp1	a0003 a0004 a0003 a0004	a0003c0013 a0004c0007 a0003c0013 a0004c0007	a0003c0013t0018 a0004c0007t0010 a0003c0013t0018 a0004c0007t0010	a0003c0013t0018g0063 a0004c0007t0010g0062 a0003c0013t0018g0063 a0004c0007t0010g0062	2	218	0.0092	-16	c.293 others(33): Show c.293+8399_293+8414delATATATATATATTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497519	AAAATATA others(9): Show AAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0082 a0002c0002t0033g0082	1	218	0.0046	-16	c.293 others(33): Show c.293+8397_293+8412delATATATATATATATTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497521	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03831.hp1 NA18906.hp2 HG01975.hp1 HG03831.hp1 NA18906.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0099 a0008c0008 a0001c0001 a0001c0099 a0008c0008	a0001c0001t0001 a0001c0099t0012 a0008c0008t0002 a0001c0001t0001 a0001c0099t0012 a0008c0008t0002	a0001c0001t0001g0050 a0001c0099t0012g0029 a0008c0008t0002g0065 a0001c0001t0001g0050 a0001c0099t0012g0029 a0008c0008t0002g0065	3	218	0.0138	-16	c.293 others(33): Show c.293+8395_293+8410delATATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137939835	TAAATAAA others(9): Show TAAATAAATAAATAAAA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0042 a0004c0023t0042	a0004c0023t0042g0076 a0004c0023t0042g0076	1	248	0.0040	-16	c.967 others(35): Show c.967-12435_967-12420delTAAATAAATAAAAAAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	6/46		INFO_REALIGN_3_PRIME	chr9	TogoVar

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