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
CAPZA2_chr7_116857587_116927049	116880696	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01975.hp2 NA18612.hp1 others(1): Show HG00438.hp1 HG01975.hp2 NA18612.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0168 a0001c0001t0002g0281 others(1): Show a0001c0001t0002g0151 a0001c0001t0002g0168 a0001c0001t0002g0281 a0001c0001t0002g0283	4	354	0.0113	11	c.40- others(26): Show c.40-7403_40-7393dupTTTTTTTTTTT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116922938	T T	TTAGGTCA others(4): Show TTAGGTCATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	354	0.0028	11	c.50 others(22): Show c.5071_*5072insTAGGTCATTTC	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding		890		chr7	TogoVar
CAPZB_chr1_19333775_19490539	19416860	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	364	0.0028	11	c.93+ others(26): Show c.93+2790_93+2800dupTTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19418136	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0164 a0001c0001t0013g0164	1	364	0.0028	11	c.93+ others(26): Show c.93+1514_93+1524dupTTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CARD10_chr22_37485362_37524415	37511421	G G	GGGGAGGA others(4): Show GGGGAGGAGGAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00642.hp2 others(50): Show HG00544.hp2 HG00621.hp2 HG00642.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01433.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03239.hp1 HG03453.hp2 HG03579.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18939.hp1 NA18942.hp1 NA18957.hp1 NA18959.hp1 NA18969.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18990.hp1 NA18997.hp1 NA19005.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0008 others(2): Show a0001 a0003 a0008 a0012 a0013	a0001c0002 a0001c0003 a0001c0007 others(9): Show a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0003c0004 a0003c0005 a0003c0008 a0003c0028 a0003c0032 a0008c0019 a0012c0033 a0013c0034	a0001c0002t0002 a0001c0003t0001 a0001c0007t0001 others(9): Show a0001c0002t0002 a0001c0003t0001 a0001c0007t0001 a0001c0010t0001 a0003c0004t0001 a0003c0005t0001 a0003c0008t0001 a0003c0028t0001 a0003c0032t0001 a0008c0019t0001 a0012c0033t0001 a0013c0034t0001	a0001c0002t0002g0216 a0001c0003t0001g0127 a0001c0003t0001g0128 others(48): Show a0001c0002t0002g0216 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0208 a0001c0003t0001g0234 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0007t0001g0071 a0001c0007t0001g0212 a0001c0007t0001g0241 a0001c0007t0001g0249 a0001c0010t0001g0126 a0001c0010t0001g0130 a0001c0010t0001g0239 a0001c0010t0001g0240 a0003c0004t0001g0009 a0003c0004t0001g0217 a0003c0004t0001g0221 a0003c0004t0001g0222 a0003c0004t0001g0224 a0003c0004t0001g0225 a0003c0004t0001g0226 a0003c0004t0001g0229 a0003c0004t0001g0230 a0003c0004t0001g0231 a0003c0004t0001g0233 a0003c0004t0001g0235 a0003c0004t0001g0247 a0003c0004t0001g0248 a0003c0004t0001g0250 a0003c0005t0001g0010 a0003c0005t0001g0213 a0003c0005t0001g0215 a0003c0005t0001g0219 a0003c0005t0001g0227 a0003c0005t0001g0228 a0003c0005t0001g0232 a0003c0005t0001g0237 a0003c0005t0001g0242 a0003c0008t0001g0052 a0003c0008t0001g0055 a0003c0008t0001g0056 a0003c0008t0001g0057 a0003c0008t0001g0058 a0003c0028t0001g0053 a0003c0032t0001g0238 a0008c0019t0001g0051 a0008c0019t0001g0054 a0012c0033t0001g0236 a0013c0034t0001g0223	53	276	0.1920	11	c.700 others(28): Show c.700-1001_700-1000insTTCCTCCTCCC	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	3/19			chr22	TogoVar
CARD11_chr7_2901142_3048867	2910718	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0128 a0001c0006t0001g0128	1	322	0.0031	11	c.314 others(28): Show c.3145-554_3145-553insGTGTGTGTGTG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	23/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2933714	T T	TCCCTCCT others(4): Show TCCCTCCTTCCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02451.hp2 others(12): Show HG01243.hp2 HG02055.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp2 HG02895.hp1 HG03209.hp1 HG03453.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0011 a0001c0021 others(1): Show a0001c0006 a0001c0011 a0001c0021 a0001c0029	a0001c0006t0001 a0001c0006t0004 a0001c0011t0001 others(2): Show a0001c0006t0001 a0001c0006t0004 a0001c0011t0001 a0001c0021t0001 a0001c0029t0001	a0001c0006t0001g0095 a0001c0006t0001g0128 a0001c0006t0001g0190 others(12): Show a0001c0006t0001g0095 a0001c0006t0001g0128 a0001c0006t0001g0190 a0001c0006t0001g0191 a0001c0006t0001g0259 a0001c0006t0001g0266 a0001c0006t0001g0268 a0001c0006t0004g0305 a0001c0011t0001g0029 a0001c0011t0001g0096 a0001c0011t0001g0107 a0001c0011t0001g0318 a0001c0021t0001g0021 a0001c0021t0001g0050 a0001c0029t0001g0300	15	322	0.0466	11	c.151 others(28): Show c.1518+738_1518+739insTGGAAGGAGGG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	10/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2933718	T T	TCCCTCCT others(4): Show TCCCTCCTTCCA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0309 a0001c0011t0001g0309	1	322	0.0031	11	c.151 others(28): Show c.1518+734_1518+735insTGGAAGGAGGG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	10/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2933770	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp2 HG01243.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0095 a0001c0006t0001g0191 a0001c0006t0001g0095 a0001c0006t0001g0191	2	322	0.0062	11	c.151 others(28): Show c.1518+682_1518+683insGAAAGAAAGAA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	10/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2941539	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA20905.hp1 HG01169.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0103 a0001c0007t0001g0140 a0001c0001t0001g0103 a0001c0007t0001g0140	2	322	0.0062	11	c.685 others(28): Show c.685-1622_685-1612dupTTTTTTTTTTT	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	5/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3040328	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02886.hp2 HG02257.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0039 a0001c0001 a0001c0039	a0001c0001t0001 a0001c0039t0001 a0001c0001t0001 a0001c0039t0001	a0001c0001t0001g0093 a0001c0039t0001g0313 a0001c0001t0001g0093 a0001c0039t0001g0313	2	322	0.0062	11	c.-12 others(30): Show c.-126+3338_-126+3339insAAAAAAAAAAA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp2 HG01884.hp2 NA18960.hp1 HG01074.hp2 HG01884.hp2 NA18960.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0024 a0003c0013 a0005c0004 a0001c0024 a0003c0013 a0005c0004	a0001c0024t0011 a0003c0013t0002 a0005c0004t0001 a0001c0024t0011 a0003c0013t0002 a0005c0004t0001	a0001c0024t0011g0361 a0003c0013t0002g0303 a0005c0004t0001g0312 a0001c0024t0011g0361 a0003c0013t0002g0303 a0005c0004t0001g0312	3	376	0.0080	11	c.-68 others(25): Show c.-689-18_-689-8dupTTTTTTTTTTT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD19_chr9_93091217_93118283	93106414	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01243.hp1 HG01258.hp2 others(14): Show HG00438.hp2 HG01243.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG02055.hp1 HG02056.hp1 HG02293.hp2 HG02486.hp1 HG04115.hp1 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18972.hp2 NA19000.hp1 NA19000.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0003c0008 others(1): Show a0001c0001 a0001c0002 a0003c0008 a0006c0010	a0001c0001t0002 a0001c0002t0003 a0003c0008t0002 others(1): Show a0001c0001t0002 a0001c0002t0003 a0003c0008t0002 a0006c0010t0002	a0001c0001t0002g0014 a0001c0001t0002g0023 a0001c0001t0002g0030 others(8): Show a0001c0001t0002g0014 a0001c0001t0002g0023 a0001c0001t0002g0030 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0168 a0001c0002t0003g0060 a0003c0008t0002g0014 a0006c0010t0002g0057	17	358	0.0475	11	c.8-1 others(24): Show c.8-1254_8-1244dupAAAAAAAAAAA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CARD19_chr9_93091217_93118283	93115470	G G	GGGGGTGA others(4): Show GGGGGTGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	358	0.0028	11	c.23 others(22): Show c.2363_*2364insGGGGTGAGGGA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2188		chr9	TogoVar
CARD19_chr9_93091217_93118283	93115471	A A	AGGGTGAG others(4): Show AGGGTGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	358	0.0028	11	c.23 others(22): Show c.2364_*2365insGGGTGAGGGAG	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2189		chr9	TogoVar
CARD19_chr9_93091217_93118283	93115633	A A	AGGTAAGG others(4): Show AGGTAAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp2 others(88): Show HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG01074.hp2 HG01109.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02257.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03831.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp2 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19066.hp1 NA19067.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0004c0007 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0009t0001 a0004c0007t0001 a0005c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(39): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0002g0032 a0001c0002t0001g0027 a0001c0009t0001g0005 a0004c0007t0001g0131 a0005c0006t0001g0142	91	358	0.2542	11	c.25 others(22): Show c.2526_*2527insGGTAAGGGAGG	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2351		chr9	TogoVar
CARD19_chr9_93091217_93118283	93115645	G G	GGTAAGGG others(4): Show GGTAAGGGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02698.hp1 HG03927.hp2 HG02683.hp2 HG02698.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0139 a0001c0001t0001g0002 a0001c0001t0001g0139	3	358	0.0084	11	c.25 others(22): Show c.2538_*2539insGTAAGGGAGGA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2363		chr9	TogoVar
CARD19_chr9_93091217_93118283	93115971	G G	GGGAGGGG others(4): Show GGGAGGGGTGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02145.hp1 others(3): Show HG01109.hp2 HG01891.hp2 HG02145.hp1 HG02647.hp2 HG03041.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0108 a0001c0001t0002g0109 others(1): Show a0001c0001t0002g0017 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0166	6	358	0.0168	11	c.28 others(22): Show c.2864_*2865insGGAGGGGTGAA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2689		chr9	TogoVar
CARD6_chr5_40836367_40860354	40850413	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0009 a0007c0008t0009	a0007c0008t0009g0137 a0007c0008t0009g0137	1	440	0.0023	11	c.842 others(28): Show c.842-1751_842-1741dupAAAAAAAAAAA	CARD6	ENSG00000132357.14	transcript	ENST00000254691.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CARD8_chr19_48203086_48260912	48207734	G G	GGTTTTTT others(4): Show GGTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0036 a0001c0005t0036	a0001c0005t0036g0037 a0001c0005t0036g0037	1	362	0.0028	11	c.39 others(22): Show c.3975_*3976insAAAAAAAAAAC	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding		351		chr19	TogoVar
CARD8_chr19_48203086_48260912	48220952	G G	GAAAGGAA others(4): Show GAAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00639.hp1 others(24): Show HG00280.hp2 HG00423.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG01081.hp1 HG01943.hp2 HG02071.hp2 HG02074.hp1 HG02135.hp1 HG02165.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03831.hp1 NA18747.hp1 NA18948.hp1 NA18961.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA19002.hp1 NA19006.hp2 NA20752.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0012	a0001c0003 a0002c0001 a0005c0016 others(1): Show a0001c0003 a0002c0001 a0005c0016 a0012c0022	a0001c0003t0005 a0002c0001t0001 a0002c0001t0004 others(4): Show a0001c0003t0005 a0002c0001t0001 a0002c0001t0004 a0002c0001t0010 a0002c0001t0020 a0005c0016t0013 a0012c0022t0001	a0001c0003t0005g0061 a0002c0001t0001g0002 a0002c0001t0001g0024 others(22): Show a0001c0003t0005g0061 a0002c0001t0001g0002 a0002c0001t0001g0024 a0002c0001t0001g0044 a0002c0001t0001g0055 a0002c0001t0001g0074 a0002c0001t0001g0080 a0002c0001t0001g0082 a0002c0001t0001g0112 a0002c0001t0001g0127 a0002c0001t0001g0142 a0002c0001t0001g0146 a0002c0001t0001g0226 a0002c0001t0004g0270 a0002c0001t0004g0286 a0002c0001t0004g0288 a0002c0001t0004g0293 a0002c0001t0004g0298 a0002c0001t0004g0300 a0002c0001t0004g0303 a0002c0001t0010g0278 a0002c0001t0020g0329 a0002c0001t0020g0330 a0005c0016t0013g0228 a0012c0022t0001g0215	27	362	0.0746	11	c.116 others(28): Show c.1161+777_1161+778insTTCCTTCCTTT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	11/13			chr19	TogoVar
CARD8_chr19_48203086_48260912	48220954	A A	AAGGAAGG others(4): Show AAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp2 HG00642.hp2 others(39): Show HG00438.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG01099.hp2 HG01261.hp1 HG01517.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02300.hp1 HG02615.hp2 HG02717.hp1 HG03017.hp1 HG03195.hp1 HG03669.hp2 HG03942.hp1 NA18522.hp2 NA18612.hp1 NA18944.hp1 NA18948.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18977.hp1 NA18979.hp2 NA18989.hp2 NA19003.hp1 NA19007.hp2 NA19011.hp2 NA19060.hp2 NA19077.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0002 a0001c0004 a0002c0001 others(4): Show a0001c0002 a0001c0004 a0002c0001 a0003c0009 a0004c0007 a0004c0011 a0006c0014	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(14): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0012 a0001c0002t0017 a0001c0002t0030 a0001c0002t0038 a0001c0004t0003 a0001c0004t0014 a0001c0004t0015 a0001c0004t0025 a0001c0004t0044 a0002c0001t0002 a0003c0009t0002 a0004c0007t0007 a0004c0011t0008 a0006c0014t0061	a0001c0002t0001g0237 a0001c0002t0002g0013 a0001c0002t0002g0117 others(38): Show a0001c0002t0001g0237 a0001c0002t0002g0013 a0001c0002t0002g0117 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0192 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0204 a0001c0002t0002g0231 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0007g0118 a0001c0002t0007g0205 a0001c0002t0007g0208 a0001c0002t0007g0232 a0001c0002t0012g0181 a0001c0002t0012g0249 a0001c0002t0017g0253 a0001c0002t0017g0262 a0001c0002t0030g0263 a0001c0002t0038g0179 a0001c0004t0003g0132 a0001c0004t0003g0164 a0001c0004t0003g0165 a0001c0004t0003g0173 a0001c0004t0003g0175 a0001c0004t0003g0187 a0001c0004t0003g0219 a0001c0004t0014g0174 a0001c0004t0015g0163 a0001c0004t0025g0158 a0001c0004t0044g0050 a0002c0001t0002g0229 a0003c0009t0002g0054 a0003c0009t0002g0246 a0004c0007t0007g0152 a0004c0011t0008g0124 a0004c0011t0008g0151 a0006c0014t0061g0326	42	362	0.1160	11	c.116 others(28): Show c.1161+775_1161+776insCCTTCCTTCCT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	11/13			chr19	TogoVar
CARD9_chr9_136358956_136378669	136363734	C C	CGCCCTGC others(4): Show CGCCCTGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(37): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00642.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG02109.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02735.hp2 HG03017.hp1 HG03225.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA19043.hp1 NA20129.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0001c0001t0001 a0001c0005t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0018 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0005t0001g0052 a0002c0002t0001g0003 a0002c0002t0001g0102	40	406	0.0985	11	c.56 others(20): Show c.567_*568insCGGGGCAGGGC	CARD9	ENSG00000187796.16	transcript	ENST00000371732.10	protein_coding		221		chr9	TogoVar
CARD9_chr9_136358956_136378669	136363739	T T	TGCCCCGG others(4): Show TGCCCCGGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0062 a0006c0014t0001g0062	1	406	0.0025	11	c.56 others(20): Show c.562_*563insGGGGCCGGGGC	CARD9	ENSG00000187796.16	transcript	ENST00000371732.10	protein_coding		216		chr9	TogoVar
CARF_chr2_202907275_202993263	202909778	T T	TTTATTTA others(4): Show TTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0118 a0003c0007t0118	a0003c0007t0118g0016 a0003c0007t0118g0016	1	334	0.0030	11	c.-36 others(22): Show c.-3654_-3653insTTATTTATTTA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding		2496		chr2	TogoVar
CARF_chr2_202907275_202993263	202980623	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0159 a0001c0001t0006g0159	1	334	0.0030	11	c.155 others(28): Show c.1559-931_1559-921dupATATATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01261.hp1 NA18948.hp2 others(2): Show HG00639.hp1 HG01261.hp1 NA18948.hp2 NA19009.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0009 a0001c0005t0002 a0001c0001t0001 a0001c0002t0009 a0001c0005t0002	a0001c0001t0001g0245 a0001c0001t0001g0292 a0001c0002t0009g0204 others(2): Show a0001c0001t0001g0245 a0001c0001t0001g0292 a0001c0002t0009g0204 a0001c0002t0009g0422 a0001c0005t0002g0169	5	470	0.0106	11	c.31 others(22): Show c.3176_*3186dupAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18941.hp2 NA18948.hp1 others(3): Show HG02155.hp1 NA18941.hp2 NA18948.hp1 NA18973.hp2 NA19074.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0217 a0001c0001t0003g0220 others(3): Show a0001c0001t0003g0198 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0253	6	470	0.0128	11	c.281 others(28): Show c.281+1076_281+1086dupAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857265	T T	TTTTGTTT others(4): Show TTTTGTTTTTTG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02129.hp1 NA18952.hp2 others(4): Show HG02056.hp2 HG02129.hp1 NA18952.hp2 NA18962.hp2 NA18974.hp1 NA19065.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0294 a0001c0002t0002g0004 a0001c0002t0002g0145 others(2): Show a0001c0001t0002g0294 a0001c0002t0002g0004 a0001c0002t0002g0145 a0001c0002t0002g0242 a0001c0002t0002g0426	7	470	0.0149	11	c.281 others(28): Show c.281+1084_281+1085insCAAAAAACAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857266	T T	TTTTGTTT others(4): Show TTTTGTTTTTTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp2 HG03209.hp1 HG02486.hp2 HG02647.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0033 a0001c0002t0002g0021 a0001c0002t0002g0033	3	470	0.0064	11	c.281 others(28): Show c.281+1083_281+1084insCAAAAAACAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp2 HG01074.hp2 others(7): Show HG00280.hp2 HG00673.hp2 HG01074.hp2 HG01943.hp2 HG01993.hp2 HG02602.hp1 NA18959.hp1 NA18963.hp2 NA18966.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0051 others(7): Show a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0082 a0001c0001t0001g0265 a0001c0001t0001g0277 a0001c0001t0001g0380 a0001c0001t0001g0435 a0001c0001t0003g0206	10	470	0.0213	11	c.-7- others(26): Show c.-7-2665_-7-2655dupAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25293305	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0085 a0002c0014t0003g0085	1	186	0.0054	11	c.138 others(28): Show c.138+8396_138+8397insGTGTGTGTGTG	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25340777	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02145.hp2 HG02738.hp1 others(6): Show HG00735.hp2 HG02145.hp2 HG02738.hp1 HG02970.hp2 HG03195.hp2 HG03239.hp1 HG03492.hp2 HG03704.hp2 NA18979.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0012 others(2): Show a0001c0001 a0001c0004 a0001c0012 a0001c0029 a0003c0010	a0001c0001t0001 a0001c0001t0008 a0001c0004t0004 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0004t0004 a0001c0012t0006 a0001c0029t0006 a0003c0010t0003	a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0008g0101 others(6): Show a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0008g0101 a0001c0004t0004g0115 a0001c0012t0006g0119 a0001c0012t0006g0120 a0001c0029t0006g0129 a0003c0010t0003g0104 a0003c0010t0003g0112	9	186	0.0484	11	c.138 others(30): Show c.138+55885_138+55895dupTTTTTTTTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25387114	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp1 HG01884.hp1 others(1): Show HG00642.hp1 HG01106.hp1 HG01884.hp1 NA19240.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0004 a0002c0007 a0005c0019 others(1): Show a0001c0004 a0002c0007 a0005c0019 a0006c0016	a0001c0004t0009 a0002c0007t0006 a0005c0019t0001 others(1): Show a0001c0004t0009 a0002c0007t0006 a0005c0019t0001 a0006c0016t0005	a0001c0004t0009g0182 a0002c0007t0006g0035 a0005c0019t0001g0034 others(1): Show a0001c0004t0009g0182 a0002c0007t0006g0035 a0005c0019t0001g0034 a0006c0016t0005g0168	4	186	0.0215	11	c.139 others(30): Show c.139-32991_139-32981dupAAAAAAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459267	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03710.hp1 HG03710.hp2 others(1): Show HG01074.hp1 HG03710.hp1 HG03710.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0008 a0002c0005 a0001c0006 a0001c0008 a0002c0005	a0001c0006t0014 a0001c0008t0001 a0002c0005t0003 others(1): Show a0001c0006t0014 a0001c0008t0001 a0002c0005t0003 a0002c0005t0006	a0001c0006t0014g0149 a0001c0008t0001g0066 a0002c0005t0003g0073 others(1): Show a0001c0006t0014g0149 a0001c0008t0001g0066 a0002c0005t0003g0073 a0002c0005t0006g0116	4	186	0.0215	11	c.615 others(28): Show c.615-6604_615-6603insCTTTCTTTCTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25529755	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 homoSapiens_chm13v2.hp1 HG03654.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0004 a0001c0006t0004 a0001c0004t0004 a0001c0006t0004	a0001c0004t0004g0121 a0001c0006t0004g0062 a0001c0004t0004g0121 a0001c0006t0004g0062	2	186	0.0108	11	c.206 others(28): Show c.2067+882_2067+892dupAAAAAAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASC3_chr17_40135537_40177171	40140381	C C	CACACACA others(4): Show CACACACACCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	266	0.0038	11	c.-16 others(20): Show c.-168_-167insACACACACCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		155		chr17	TogoVar
CASC3_chr17_40135537_40177171	40164750	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02257.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0237 a0001c0001t0003g0238	2	266	0.0075	11	c.147 others(28): Show c.1471+597_1471+607dupTTTTTTTTTTT	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CASK_chrX_41509934_41928554	41710081	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	164	0.0061	11	c.429 others(30): Show c.429+29302_429+29303insCACACACACAC	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41869812	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	164	0.0061	11	c.60- others(28): Show c.60-16596_60-16586dupTTTTTTTTTTT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASP10_chr2_201178141_201226665	201215211	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02723.hp2 others(1): Show HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0019 a0001c0005t0009 a0001c0003t0019 a0001c0005t0009	a0001c0003t0019g0177 a0001c0005t0009g0019 a0001c0005t0009g0071 a0001c0003t0019g0177 a0001c0005t0009g0019 a0001c0005t0009g0071	4	322	0.0124	11	c.141 others(30): Show c.1416-2362_1416-2352dupTTTTTTTTTTT	CASP10	ENSG00000003400.16	transcript	ENST00000286186.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP1_chr11_105020508_105040144	105035618	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00621.hp1 others(109): Show HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01433.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18941.hp2 NA18949.hp2 NA18950.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18971.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18989.hp2 NA18991.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp2 NA19060.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19081.hp1 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0005 a0001c0001 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0002g0002 a0002c0003t0001g0004 a0003c0005t0001g0006	112	398	0.2814	11	c.-50 others(20): Show c.-506_-505insAAAAAAAAAAA	CASP1	ENSG00000137752.25	transcript	ENST00000533400.6	protein_coding		475		chr11	TogoVar
CASP2_chr7_143283351_143312696	143284636	C C	CCAAATAG others(4): Show CCAAATAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	246	0.0041	11	c.-38 others(22): Show c.-3820_-3819insCAAATAGAAGG	CASP2	ENSG00000106144.20	transcript	ENST00000310447.10	protein_coding		3714		chr7	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19075.hp2 HG06807.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0190 a0001c0001t0002g0173 a0001c0001t0002g0190	2	366	0.0055	11	c.483 others(26): Show c.483+212_483+222dupTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP6_chr4_109683628_109708445	109705995	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	416	0.0024	11	c.-26 others(22): Show c.-2601_-2600insATATATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2551		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706032	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0035 a0004c0004t0001g0035	1	416	0.0024	11	c.-26 others(22): Show c.-2638_-2637insATATATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2588		chr4	TogoVar
CASP7_chr10_113674912_113735905	113687836	C C	CTTTCTTT others(4): Show CTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00621.hp1 others(20): Show HG00323.hp1 HG00408.hp2 HG00621.hp1 HG01106.hp1 HG01256.hp1 HG02300.hp1 HG02886.hp2 HG03491.hp1 HG03669.hp2 HG03710.hp1 NA18946.hp1 NA18951.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18963.hp1 NA18983.hp1 NA18990.hp2 NA18992.hp1 NA19054.hp2 NA19080.hp1 NA19084.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0003c0003t0002	a0001c0001t0002g0193 a0001c0001t0003g0189 a0001c0001t0003g0192 others(18): Show a0001c0001t0002g0193 a0001c0001t0003g0189 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0238 a0001c0001t0004g0078 a0001c0001t0004g0228 a0001c0001t0004g0374 a0002c0002t0001g0003 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0367 a0002c0002t0001g0368 a0002c0002t0001g0369 a0002c0002t0001g0375 a0002c0002t0001g0385 a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0137	23	406	0.0567	11	c.-1+ others(26): Show c.-1+7858_-1+7859insTTTCTTTCTTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6			chr10	TogoVar
CASP7_chr10_113674912_113735905	113687890	C C	CTTTCTTT others(4): Show CTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0120 a0003c0003t0002g0120	1	406	0.0025	11	c.-1+ others(26): Show c.-1+7912_-1+7913insTTTCTTTCTTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6			chr10	TogoVar
CASP8_chr2_201255536_201292709	201281933	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03492.hp1 HG02055.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0075 a0001c0001t0005g0054 a0001c0001t0004g0075 a0001c0001t0005g0054	2	386	0.0052	11	c.803 others(28): Show c.803-2871_803-2861dupTTTTTTTTTTT	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASQ1_chr1_160185575_160206886	160186086	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02451.hp2 HG02809.hp1 others(17): Show HG02074.hp1 HG02451.hp2 HG02809.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp1 HG03710.hp2 HG06807.hp2 NA18612.hp2 NA18944.hp1 NA18968.hp2 NA18979.hp1 NA19043.hp1 NA19043.hp2 NA19077.hp2 NA19085.hp2 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0010 a0009c0007 a0001c0001 a0001c0010 a0009c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0010t0001 a0009c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0001g0121 a0001c0001t0002g0027 a0001c0001t0005g0048 a0001c0010t0001g0059 a0009c0007t0001g0126	20	440	0.0455	11	c.-46 others(22): Show c.-4666_-4665insAAAAAAAAAAA	CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding		4488		chr1	TogoVar

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