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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Select column to sort.

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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
CA6_chr1_8940868_8980092	8943677	G G	GGCCCTTT others(6): Show GGCCCTTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0151 a0006c0004t0001g0151	1	452	0.0022	13	c.-22 others(24): Show c.-2210_-2209insGCCCTTTCCTTCC	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		2190		chr1	TogoVar
CA6_chr1_8940868_8980092	8959931	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0243 a0002c0001t0001g0243	1	452	0.0022	13	c.501 others(28): Show c.501+936_501+948dupAAAAAAAAAAAAA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8973710	C C	CTCTCTTC others(6): Show CTCTCTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0103 a0005c0005t0001g0103	1	452	0.0022	13	c.845 others(28): Show c.845-909_845-908insCTTCTTTCTTTCT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8973784	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18964.hp1 NA18980.hp2 HG02622.hp2 NA18964.hp1 NA18980.hp2	a0002 a0012 a0002 a0012	a0002c0001 a0002c0029 a0012c0024 a0002c0001 a0002c0029 a0012c0024	a0002c0001t0002 a0002c0029t0002 a0012c0024t0006 a0002c0001t0002 a0002c0029t0002 a0012c0024t0006	a0002c0001t0002g0285 a0002c0029t0002g0288 a0012c0024t0006g0422 a0002c0001t0002g0285 a0002c0029t0002g0288 a0012c0024t0006g0422	3	452	0.0066	13	c.845 others(28): Show c.845-835_845-834insCTTTCTTTCTTTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA8_chr8_60180412_60286400	60185204	T T	TAAATAAA others(6): Show TAAATAAATAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03471.hp2 NA19030.hp2 others(1): Show HG03209.hp2 HG03471.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0002t0044 a0001c0001t0020 a0001c0002t0044	a0001c0001t0020g0283 a0001c0001t0020g0284 a0001c0001t0020g0287 others(1): Show a0001c0001t0020g0283 a0001c0001t0020g0284 a0001c0001t0020g0287 a0001c0002t0044g0197	4	344	0.0116	13	c.48 others(24): Show c.4816_*4817insTATTTATTTATTT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding		207		chr8	TogoVar
CA8_chr8_60180412_60286400	60219929	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0180 a0001c0002t0004g0180	1	344	0.0029	13	c.738 others(30): Show c.738+2707_738+2719dupTTTTTTTTTTTTT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	7/8			chr8	TogoVar
CAAP1_chr9_26835685_26897802	26847198	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	372	0.0027	13	c.740 others(30): Show c.740-4564_740-4552dupAAAAAAAAAAAAA	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	5/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49318418	G G	GATCACAC others(6): Show GATCACACCACTGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(176): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19078.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0017	a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0001g0050 others(175): Show a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0001g0284 a0001c0001t0001g0297 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0127 a0001c0001t0002g0318 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0134 a0001c0001t0004g0268 a0001c0001t0016g0314 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0156 a0001c0002t0001g0158 a0001c0002t0001g0166 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0180 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0193 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0225 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0236 a0001c0002t0001g0240 a0001c0002t0001g0249 a0001c0002t0001g0259 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0276 a0001c0002t0001g0291 a0001c0002t0001g0294 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0310 a0001c0002t0001g0313 a0001c0002t0001g0322 a0001c0002t0002g0125 a0001c0002t0002g0229 a0001c0002t0003g0005 a0001c0002t0003g0014 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0025 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0037 a0001c0002t0003g0039 a0001c0002t0003g0042 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0004g0123 a0001c0002t0007g0320 a0001c0002t0007g0321 a0001c0002t0007g0323 a0001c0002t0008g0105 a0001c0002t0009g0167 a0001c0002t0017g0131	179	324	0.5525	13	c.835 others(30): Show c.835-7426_835-7425insGCAGTGGTGTGAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49318418	G G	GATCATAC others(6): Show GATCATACCACTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(141): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0013 a0001c0002t0019 a0001c0004t0004 a0002c0003t0002	a0001c0001t0001g0109 a0001c0001t0001g0296 a0001c0001t0002g0052 others(141): Show a0001c0001t0001g0109 a0001c0001t0001g0296 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0227 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0292 a0001c0001t0002g0300 a0001c0001t0002g0311 a0001c0001t0002g0317 a0001c0001t0002g0319 a0001c0001t0004g0008 a0001c0001t0004g0048 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0133 a0001c0001t0004g0206 a0001c0001t0004g0271 a0001c0001t0004g0293 a0001c0001t0004g0295 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0005g0003 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0117 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0183 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0233 a0001c0001t0006g0099 a0001c0001t0006g0104 a0001c0001t0006g0132 a0001c0001t0006g0135 a0001c0001t0006g0162 a0001c0001t0006g0260 a0001c0001t0006g0277 a0001c0001t0006g0280 a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0001t0010g0056 a0001c0001t0011g0146 a0001c0001t0012g0264 a0001c0001t0014g0116 a0001c0001t0015g0270 a0001c0001t0020g0011 a0001c0002t0001g0073 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0069 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0108 a0001c0002t0002g0118 a0001c0002t0002g0122 a0001c0002t0002g0148 a0001c0002t0002g0168 a0001c0002t0002g0179 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0188 a0001c0002t0002g0192 a0001c0002t0002g0195 a0001c0002t0002g0216 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0224 a0001c0002t0002g0226 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0248 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0275 a0001c0002t0002g0287 a0001c0002t0002g0290 a0001c0002t0002g0304 a0001c0002t0004g0207 a0001c0002t0005g0201 a0001c0002t0006g0288 a0001c0002t0013g0266 a0001c0002t0019g0038 a0001c0004t0004g0065 a0002c0003t0002g0244	144	324	0.4444	13	c.835 others(30): Show c.835-7426_835-7425insGCAGTGGTATGAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49346095	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	324	0.0031	13	c.565 others(30): Show c.565-1858_565-1857insTATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49346120	T T	TATATATA others(6): Show TATATATATATATC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02602.hp2 HG03225.hp1 others(1): Show HG02257.hp2 HG02602.hp2 HG03225.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001	a0001c0001t0002g0263 a0001c0001t0006g0132 a0001c0001t0006g0162 others(1): Show a0001c0001t0002g0263 a0001c0001t0006g0132 a0001c0001t0006g0162 a0001c0002t0001g0138	4	324	0.0124	13	c.565 others(30): Show c.565-1883_565-1882insGATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49396097	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02109.hp1 HG02293.hp1 others(6): Show HG00642.hp2 HG02109.hp1 HG02293.hp1 HG02886.hp2 HG03130.hp1 HG03471.hp1 HG03516.hp2 HG03710.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0064 a0001c0001t0001g0106 a0001c0001t0001g0110 others(6): Show a0001c0001t0001g0064 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0235 a0001c0001t0002g0163 a0001c0001t0002g0178 a0001c0001t0002g0278 a0001c0001t0002g0300 a0001c0001t0011g0146	9	324	0.0278	13	c.-31 others(32): Show c.-31-13157_-31-13156insTTTTTTTTTTTTT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230748829	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0147 a0001c0001t0022g0147	1	342	0.0029	13	c.-43 others(32): Show c.-43-11130_-43-11129insTATATATATATAT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8			chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0268 a0001c0001t0004g0268	1	342	0.0029	13	c.-43 others(32): Show c.-43-11127_-43-11126insAAAAATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0321 a0001c0001t0004g0321	1	342	0.0029	13	c.-43 others(32): Show c.-43-11128_-43-11127insTATATATATATAT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8			chr2	TogoVar
CAB39_chr2_230707842_230826075	230782809	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03516.hp2 HG00639.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0060 a0001c0001t0019 a0001c0001t0060	a0001c0001t0019g0023 a0001c0001t0060g0024 a0001c0001t0019g0023 a0001c0001t0060g0024	2	342	0.0059	13	c.115 others(30): Show c.115-8060_115-8059insTTTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230813978	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02738.hp2 HG02080.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0113 a0001c0001t0001g0093 a0001c0001t0001g0113	2	342	0.0059	13	c.628 others(26): Show c.628-49_628-37dupTTTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230825154	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01243.hp2 HG01261.hp1 others(26): Show HG01106.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG02257.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG03139.hp1 HG03195.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(17): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0045 a0001c0001t0047 a0001c0001t0063 a0001c0001t0066	a0001c0001t0001g0026 a0001c0001t0005g0128 a0001c0001t0005g0131 others(26): Show a0001c0001t0001g0026 a0001c0001t0005g0128 a0001c0001t0005g0131 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0009g0008 a0001c0001t0009g0018 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0013g0127 a0001c0001t0014g0025 a0001c0001t0017g0006 a0001c0001t0017g0007 a0001c0001t0017g0010 a0001c0001t0020g0203 a0001c0001t0020g0204 a0001c0001t0020g0205 a0001c0001t0024g0125 a0001c0001t0024g0129 a0001c0001t0028g0028 a0001c0001t0029g0002 a0001c0001t0034g0305 a0001c0001t0039g0120 a0001c0001t0040g0014 a0001c0001t0042g0027 a0001c0001t0045g0005 a0001c0001t0047g0057 a0001c0001t0063g0193 a0001c0001t0066g0202	29	342	0.0848	13	c.64 others(24): Show c.6450_*6451insAAAAAAAAAAAAA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4080		chr2	TogoVar
CAB39_chr2_230707842_230826075	230825165	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03471.hp1 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0058 a0001c0001t0002 a0001c0001t0058	a0001c0001t0002g0306 a0001c0001t0058g0015 a0001c0001t0002g0306 a0001c0001t0058g0015	2	342	0.0059	13	c.64 others(24): Show c.6461_*6462insAAAAAAAAAAAAG	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4091		chr2	TogoVar
CABIN1_chr22_24006304_24183628	24136524	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(32): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00673.hp2 HG01069.hp2 HG02155.hp2 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG02818.hp2 HG02965.hp2 HG04115.hp2 NA18522.hp2 NA18747.hp2 NA18939.hp2 NA18948.hp1 NA18949.hp2 NA18966.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18997.hp1 NA18998.hp2 NA19002.hp2 NA19007.hp1 NA19012.hp1 NA19063.hp1 NA19066.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19089.hp1 NA20300.hp2	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0015	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0014 a0001c0031 a0001c0032 a0002c0002 a0002c0022 a0011c0021 a0015c0034	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0011t0001 a0001c0014t0001 a0001c0031t0001 a0001c0032t0001 a0002c0002t0001 a0002c0022t0001 a0011c0021t0001 a0015c0034t0001	a0001c0001t0001g0010 a0001c0001t0001g0215 a0001c0001t0001g0267 others(32): Show a0001c0001t0001g0010 a0001c0001t0001g0215 a0001c0001t0001g0267 a0001c0003t0001g0144 a0001c0003t0001g0148 a0001c0004t0001g0198 a0001c0004t0001g0199 a0001c0004t0001g0200 a0001c0004t0001g0201 a0001c0004t0001g0205 a0001c0004t0001g0209 a0001c0004t0001g0210 a0001c0004t0001g0233 a0001c0011t0001g0164 a0001c0011t0001g0206 a0001c0011t0001g0219 a0001c0014t0001g0137 a0001c0031t0001g0207 a0001c0032t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0021 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0171 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0193 a0002c0002t0001g0217 a0002c0022t0001g0160 a0011c0021t0001g0174 a0015c0034t0001g0120	35	268	0.1306	13	c.474 others(32): Show c.4746+2121_4746+2133dupTTTTTTTTTTTTT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABLES1_chr18_23130485_23265470	23248538	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0207 a0001c0001t0005g0207	1	278	0.0036	13	c.144 others(32): Show c.1447-4422_1447-4421insTTTTTTTTTTTTA	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	7/9			chr18	TogoVar
CABP1_chr12_120635626_120672324	120636805	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	418	0.0024	13	c.-38 others(24): Show c.-3881_-3880insTTTTTTTTTTTTT	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding		3820		chr12	TogoVar
CABP1_chr12_120635626_120672324	120637247	G G	GTTTTTTT others(6): Show GTTTTTTTTTGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG01169.hp2 others(23): Show HG00597.hp1 HG00597.hp2 HG01169.hp2 HG01243.hp1 HG02027.hp2 HG02056.hp2 HG02080.hp1 HG02135.hp2 HG03688.hp1 HG03927.hp2 NA18963.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18997.hp2 NA19000.hp2 NA19058.hp1 NA19060.hp2 NA19072.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 others(22): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0094 a0001c0001t0001g0155 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0002c0002t0001g0291	26	418	0.0622	13	c.-34 others(24): Show c.-3439_-3438insTTTTTTTTTGTTT	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding		3378		chr12	TogoVar
CABP1_chr12_120635626_120672324	120637252	T T	TTTTTGTT others(6): Show TTTTTGTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02647.hp1 NA21309.hp1 HG02280.hp2 HG02647.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0292 a0001c0001t0001g0043 a0001c0001t0001g0292	3	418	0.0072	13	c.-34 others(24): Show c.-3434_-3433insTTTTGTTTTTTTG	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding		3373		chr12	TogoVar
CABP1_chr12_120635626_120672324	120637254	T T	TTTGTTTT others(6): Show TTTGTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	418	0.0024	13	c.-34 others(24): Show c.-3432_-3431insTTGTTTTTTTTTG	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding		3371		chr12	TogoVar
CABP5_chr19_48024383_48049079	48029837	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG01515.hp2 HG00609.hp1 HG01515.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0051 a0002c0006t0050 a0002c0003t0051 a0002c0006t0050	a0002c0003t0051g0049 a0002c0006t0050g0189 a0002c0003t0051g0049 a0002c0006t0050g0189	2	376	0.0053	13	c.71 others(22): Show c.719_*720insCTCTCTCTCTCTC	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	719		chr19	TogoVar
CABP5_chr19_48024383_48049079	48037259	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp2 HG01361.hp1 others(3): Show HG00140.hp1 HG01175.hp2 HG01361.hp1 HG02809.hp1 HG03486.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0022 a0001c0001t0042	a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0001g0154 others(3): Show a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0001g0154 a0001c0001t0018g0089 a0001c0001t0022g0291 a0001c0001t0042g0167	6	376	0.0160	13	c.348 others(30): Show c.348+1936_348+1948dupAAAAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	4/5			chr19	TogoVar
CABYR_chr18_24134062_24166600	24164289	T T	TACACCAG others(6): Show TACACCAGTTAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	408	0.0025	13	c.27 others(24): Show c.2773_*2774insACACCAGTTAGGA	CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding		2690		chr18	TogoVar
CACFD1_chr9_133454978_133475848	133458555	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0003 a0003c0011t0003	a0003c0011t0003g0001 a0003c0011t0003g0001	1	420	0.0024	13	c.-15 others(24): Show c.-1512_-1511insAAAAAAAAAAAAA	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding		1422		chr9	TogoVar
CACHD1_chr1_64465129_64698053	64500717	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02293.hp2 HG02615.hp2 others(2): Show HG02135.hp2 HG02293.hp2 HG02615.hp2 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0001t0007 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0003t0002 a0001c0007t0007	a0001c0001t0002g0118 a0001c0001t0002g0138 a0001c0001t0007g0131 others(2): Show a0001c0001t0002g0118 a0001c0001t0002g0138 a0001c0001t0007g0131 a0001c0003t0002g0152 a0001c0007t0007g0123	5	166	0.0301	13	c.198 others(32): Show c.198+29781_198+29793dupAAAAAAAAAAAAA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64543426	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	166	0.0060	13	c.199 others(30): Show c.199-7168_199-7167insATATATATATATA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26			chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13202280	T T	TCTATCTA others(6): Show TCTATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	218	0.0046	13	c.50 others(24): Show c.5032_*5033insGATAGATAGATAG	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		4161		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310485	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02683.hp1 HG01169.hp2 HG02683.hp1	a0002 a0002	a0002c0003 a0002c0010 a0002c0003 a0002c0010	a0002c0003t0007 a0002c0010t0003 a0002c0003t0007 a0002c0010t0003	a0002c0003t0007g0086 a0002c0010t0003g0023 a0002c0003t0007g0086 a0002c0010t0003g0023	2	218	0.0092	13	c.166 others(32): Show c.1669-1958_1669-1957insATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310487	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0050 a0002c0050	a0002c0050t0002 a0002c0050t0002	a0002c0050t0002g0088 a0002c0050t0002g0088	1	218	0.0046	13	c.166 others(32): Show c.1669-1960_1669-1959insATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13311836	C C	CAAAAACA others(6): Show CAAAAACAAAAAAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00544.hp2 others(68): Show HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01255.hp1 HG01256.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03516.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18939.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18964.hp2 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19030.hp1 NA19065.hp2 NA19079.hp2 NA19084.hp1 NA20752.hp1	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0013 a0017 a0018 a0019 a0024 a0027 a0028 a0029 a0030 a0037 a0039 a0040 a0042 a0044	a0001c0001 a0001c0004 a0001c0005 others(48): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0026 a0001c0037 a0001c0038 a0001c0096 a0001c0122 a0002c0003 a0002c0070 a0002c0085 a0002c0117 a0003c0035 a0003c0039 a0003c0084 a0003c0116 a0004c0080 a0004c0093 a0004c0123 a0005c0022 a0005c0024 a0005c0033 a0005c0066 a0005c0102 a0006c0011 a0006c0029 a0006c0060 a0006c0121 a0007c0075 a0008c0008 a0008c0012 a0011c0025 a0011c0103 a0012c0023 a0012c0065 a0013c0027 a0013c0089 a0017c0040 a0018c0017 a0019c0079 a0024c0059 a0027c0064 a0028c0119 a0029c0063 a0030c0062 a0037c0087 a0039c0068 a0040c0069 a0042c0097 a0044c0112	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(59): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0001c0005t0001 a0001c0005t0005 a0001c0006t0009 a0001c0026t0001 a0001c0026t0031 a0001c0037t0004 a0001c0038t0007 a0001c0096t0025 a0001c0122t0001 a0002c0003t0002 a0002c0003t0003 a0002c0070t0007 a0002c0085t0005 a0002c0117t0009 a0003c0035t0016 a0003c0035t0024 a0003c0039t0009 a0003c0084t0016 a0003c0116t0045 a0004c0080t0009 a0004c0093t0010 a0004c0123t0009 a0005c0022t0004 a0005c0022t0010 a0005c0024t0006 a0005c0024t0008 a0005c0033t0011 a0005c0066t0001 a0005c0102t0003 a0006c0011t0002 a0006c0011t0003 a0006c0029t0002 a0006c0060t0002 a0006c0121t0041 a0007c0075t0003 a0008c0008t0002 a0008c0012t0003 a0008c0012t0006 a0011c0025t0001 a0011c0025t0011 a0011c0103t0004 a0012c0023t0003 a0012c0065t0017 a0013c0027t0001 a0013c0089t0001 a0017c0040t0001 a0018c0017t0014 a0019c0079t0007 a0024c0059t0023 a0027c0064t0004 a0028c0119t0026 a0029c0063t0002 a0030c0062t0002 a0037c0087t0001 a0039c0068t0001 a0040c0069t0014 a0042c0097t0005 a0044c0112t0012	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0004g0155 others(68): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0004g0155 a0001c0001t0005g0168 a0001c0004t0001g0199 a0001c0005t0001g0187 a0001c0005t0005g0135 a0001c0006t0009g0189 a0001c0026t0001g0144 a0001c0026t0031g0104 a0001c0037t0004g0021 a0001c0038t0007g0205 a0001c0096t0025g0003 a0001c0122t0001g0174 a0002c0003t0002g0053 a0002c0003t0003g0061 a0002c0003t0003g0177 a0002c0070t0007g0102 a0002c0085t0005g0085 a0002c0117t0009g0079 a0003c0035t0016g0076 a0003c0035t0024g0005 a0003c0039t0009g0075 a0003c0084t0016g0145 a0003c0116t0045g0111 a0004c0080t0009g0129 a0004c0093t0010g0046 a0004c0123t0009g0077 a0005c0022t0004g0092 a0005c0022t0010g0109 a0005c0024t0006g0117 a0005c0024t0008g0214 a0005c0033t0011g0010 a0005c0033t0011g0170 a0005c0066t0001g0034 a0005c0102t0003g0122 a0006c0011t0002g0098 a0006c0011t0002g0133 a0006c0011t0003g0070 a0006c0029t0002g0197 a0006c0060t0002g0016 a0006c0121t0041g0042 a0007c0075t0003g0190 a0008c0008t0002g0033 a0008c0008t0002g0099 a0008c0012t0003g0015 a0008c0012t0003g0091 a0008c0012t0006g0120 a0011c0025t0001g0093 a0011c0025t0011g0038 a0011c0103t0004g0200 a0012c0023t0003g0164 a0012c0023t0003g0180 a0012c0065t0017g0055 a0013c0027t0001g0118 a0013c0027t0001g0179 a0013c0089t0001g0143 a0017c0040t0001g0008 a0018c0017t0014g0212 a0018c0017t0014g0216 a0019c0079t0007g0067 a0024c0059t0023g0001 a0027c0064t0004g0101 a0028c0119t0026g0131 a0029c0063t0002g0196 a0030c0062t0002g0124 a0037c0087t0001g0103 a0039c0068t0001g0171 a0040c0069t0014g0040 a0042c0097t0005g0059 a0044c0112t0012g0206	71	218	0.3257	13	c.166 others(30): Show c.1668+820_1668+832dupATTTTTTGTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13318890	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp1 HG01255.hp2 others(3): Show HG01099.hp1 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG02083.hp2 HG04184.hp2	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0010 a0022 a0038	a0001c0020 a0002c0019 a0009c0051 others(3): Show a0001c0020 a0002c0019 a0009c0051 a0010c0053 a0022c0095 a0038c0044	a0001c0020t0001 a0002c0019t0003 a0009c0051t0002 others(3): Show a0001c0020t0001 a0002c0019t0003 a0009c0051t0002 a0010c0053t0003 a0022c0095t0003 a0038c0044t0005	a0001c0020t0001g0051 a0002c0019t0003g0009 a0009c0051t0002g0184 others(3): Show a0001c0020t0001g0051 a0002c0019t0003g0009 a0009c0051t0002g0184 a0010c0053t0003g0186 a0022c0095t0003g0183 a0038c0044t0005g0175	6	218	0.0275	13	c.134 others(32): Show c.1346-1582_1346-1570dupAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13320275	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18995.hp1 HG00609.hp1 NA18995.hp1	a0001 a0005 a0001 a0005	a0001c0122 a0005c0033 a0001c0122 a0005c0033	a0001c0122t0001 a0005c0033t0011 a0001c0122t0001 a0005c0033t0011	a0001c0122t0001g0174 a0005c0033t0011g0170 a0001c0122t0001g0174 a0005c0033t0011g0170	2	218	0.0092	13	c.134 others(32): Show c.1346-2955_1346-2954insCTCTCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13334549	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0160 a0002c0002t0015g0160	1	218	0.0046	13	c.108 others(28): Show c.1083-57_1083-56insCACACACACACAC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	7/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13415743	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 NA19030.hp1 others(1): Show HG02280.hp2 HG02630.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0020 others(1): Show a0001 a0002 a0020 a0036	a0001c0058 a0002c0085 a0020c0078 others(1): Show a0001c0058 a0002c0085 a0020c0078 a0036c0052	a0001c0058t0004 a0002c0085t0005 a0020c0078t0019 others(1): Show a0001c0058t0004 a0002c0085t0005 a0020c0078t0019 a0036c0052t0006	a0001c0058t0004g0083 a0002c0085t0005g0085 a0020c0078t0019g0151 others(1): Show a0001c0058t0004g0083 a0002c0085t0005g0085 a0020c0078t0019g0151 a0036c0052t0006g0154	4	218	0.0184	13	c.539 others(32): Show c.539+37120_539+37132dupTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13433460	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	218	0.0046	13	c.539 others(32): Show c.539+19403_539+19415dupTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138090701	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20300.hp1 HG02145.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0111 a0001c0003t0007g0114 a0001c0003t0007g0111 a0001c0003t0007g0114	2	248	0.0081	13	c.509 others(32): Show c.5095-5762_5095-5750dupAAAAAAAAAAAAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138112129	G G	GCACACAC others(6): Show GCACACACGTCGGA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0180 a0002c0001t0001g0180	1	248	0.0040	13	c.542 others(30): Show c.5429-259_5429-247dupCGGACACACACGT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	39/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2535704	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG04115.hp2 HG02055.hp2 HG04115.hp2	a0001 a0001	a0001c0006 a0001c0021 a0001c0006 a0001c0021	a0001c0006t0003 a0001c0021t0027 a0001c0006t0003 a0001c0021t0027	a0001c0006t0003g0069 a0001c0021t0027g0087 a0001c0006t0003g0069 a0001c0021t0027g0087	2	104	0.0192	13	c.139 others(34): Show c.1391-14222_1391-14210dupAAAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53520890	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0121 a0001c0002t0051g0121	1	210	0.0048	13	c.483 others(32): Show c.483+19177_483+19178insCTTTCTTTTCTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53651366	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02071.hp2 HG02083.hp2 others(3): Show HG01109.hp2 HG02071.hp2 HG02083.hp2 NA18747.hp1 NA18979.hp2 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0005c0015	a0001c0001t0001 a0001c0002t0065 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0002t0065 a0001c0004t0002 a0001c0008t0035 a0005c0015t0001	a0001c0001t0001g0175 a0001c0002t0065g0201 a0001c0004t0002g0047 others(3): Show a0001c0001t0001g0175 a0001c0002t0065g0201 a0001c0004t0002g0047 a0001c0004t0002g0052 a0001c0008t0035g0010 a0005c0015t0001g0141	6	210	0.0286	13	c.623 others(28): Show c.623+458_623+470dupTTTTTTTTTTTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	4/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53810758	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0139 a0001c0002t0010g0139	1	210	0.0048	13	c.625 others(30): Show c.6253-339_6253-327dupAAAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	48/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181590414	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp2 HG01243.hp1 HG02818.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0018 a0002c0002 a0006c0018	a0002c0002t0027 a0006c0018t0001 a0002c0002t0027 a0006c0018t0001	a0002c0002t0027g0036 a0006c0018t0001g0056 a0002c0002t0027g0036 a0006c0018t0001g0056	2	206	0.0097	13	c.951 others(30): Show c.951+9638_951+9639insTATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47			chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181686275	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0122 a0001c0004t0008g0122	1	206	0.0049	13	c.105 others(34): Show c.1056-24663_1056-24651dupTTTTTTTTTTTTT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181686283	T T	TTTTTTTT others(6): Show TTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0054 a0001c0004t0054	a0001c0004t0054g0018 a0001c0004t0054g0018	1	206	0.0049	13	c.105 others(34): Show c.1056-24663_1056-24662insGTTTGTTTTTTTT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181686283	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03831.hp2 HG01978.hp2 HG03831.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0031 a0001c0004t0001 a0001c0004t0031	a0001c0004t0001g0186 a0001c0004t0031g0095 a0001c0004t0001g0186 a0001c0004t0031g0095	2	206	0.0097	13	c.105 others(34): Show c.1056-24659_1056-24658insGTTTTTTTTTTTT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr1	TogoVar

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