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
CASD1_chr7_94504809_94562019	94559276	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02083.hp2 others(26): Show HG01243.hp2 HG01891.hp2 HG02083.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 NA18522.hp1 NA18940.hp1 NA19005.hp2 NA19043.hp1 NA19084.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0007t0002	a0001c0001t0001g0167 a0001c0001t0002g0006 a0001c0001t0002g0017 others(21): Show a0001c0001t0001g0167 a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0196 a0001c0001t0002g0232 a0001c0001t0002g0242 a0001c0001t0002g0251 a0001c0001t0004g0009 a0001c0001t0004g0224 a0001c0001t0004g0226 a0001c0007t0002g0230 a0001c0007t0002g0247	29	398	0.0729	10	c.35 others(21): Show c.3518_*3519insTGTGTGTGTG	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding		2258		chr7	TogoVar
CASD1_chr7_94504809_94562019	94559308	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01099.hp2 HG01175.hp2 others(36): Show HG00738.hp2 HG01099.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG02135.hp1 HG02148.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp2 HG03239.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18944.hp1 NA18954.hp2 NA18967.hp1 NA18983.hp2 NA18988.hp2 NA18989.hp1 NA19007.hp1 NA19062.hp1 NA19070.hp1 NA19082.hp2 NA19084.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0001 a0001c0001t0011 a0003c0011t0001 a0001c0001t0001 a0001c0001t0011 a0003c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0011g0123 a0003c0011t0001g0119	39	398	0.0980	10	c.35 others(21): Show c.3550_*3551insTGTGTGTGTA	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding		2290		chr7	TogoVar
CASK_chrX_41509934_41928554	41549315	T T	TCTGCCAG others(3): Show TCTGCCAGGAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18960.hp1 HG02027.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0141 a0001c0001t0010g0057 a0001c0001t0001g0141 a0001c0001t0010g0057	2	164	0.0122	10	c.203 others(29): Show c.2039+4394_2039+4403dupTTCCTGGCAG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	21/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41710081	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01358.hp1 others(13): Show HG00099.hp1 HG00735.hp1 HG01358.hp1 HG02071.hp1 HG02135.hp1 HG02572.hp1 HG02738.hp1 HG03130.hp1 NA18747.hp1 NA18955.hp1 NA18960.hp1 NA18967.hp1 NA18973.hp1 NA18994.hp1 NA19000.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0023	a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0067 others(13): Show a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0109 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0003g0007 a0001c0001t0003g0151 a0001c0001t0004g0073 a0001c0001t0004g0082 a0001c0001t0010g0057 a0001c0001t0012g0069 a0001c0001t0020g0147 a0001c0001t0023g0107	16	164	0.0976	10	c.429 others(29): Show c.429+29293_429+29302dupCACACACACA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41829696	G G	GATATATA others(3): Show GATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19000.hp1 NA19043.hp1 others(1): Show HG00621.hp1 NA19000.hp1 NA19043.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0059 a0001c0001t0001g0108 a0001c0001t0001g0118 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0003g0116	4	164	0.0244	10	c.172 others(29): Show c.172+23409_172+23418dupATATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41829702	T T	TATATATA others(3): Show TATATATATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp2 HG00735.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0033 a0001c0001t0002g0034	2	164	0.0122	10	c.172 others(29): Show c.172+23412_172+23413insGTATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41854224	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG06807.hp1 HG02572.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0151 a0001c0001t0011g0045 a0001c0001t0003g0151 a0001c0001t0011g0045	2	164	0.0122	10	c.60- others(24): Show c.60-1007_60-998dupTGTGTGTGTG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41854224	G G	GCGCGCAC others(3): Show GCGCGCACACA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	164	0.0061	10	c.60- others(23): Show c.60-998_60-997insTGTGTGCGCG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41869812	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01515.hp1 HG01891.hp2 others(4): Show HG01123.hp1 HG01515.hp1 HG01891.hp2 HG02572.hp1 NA18995.hp1 NA19012.hp1 NA19072.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0003c0004t0001	a0001c0001t0001g0042 a0001c0001t0001g0139 a0001c0001t0002g0047 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0139 a0001c0001t0002g0047 a0001c0001t0003g0048 a0001c0001t0003g0151 a0001c0001t0022g0055 a0003c0004t0001g0027	7	164	0.0427	10	c.60- others(27): Show c.60-16595_60-16586dupTTTTTTTTTT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41887296	C C	CCACACAC others(3): Show CCACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	164	0.0061	10	c.60- others(27): Show c.60-34079_60-34070dupTGTGTGTGTG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41912790	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0008 a0001c0001t0026g0008	1	164	0.0061	10	c.59+ others(27): Show c.59+10130_59+10139dupTATATATATA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASP10_chr2_201178141_201226665	201215211	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02895.hp1 HG01884.hp2 HG02895.hp1	a0001 a0001	a0001c0005 a0001c0014 a0001c0005 a0001c0014	a0001c0005t0009 a0001c0014t0017 a0001c0005t0009 a0001c0014t0017	a0001c0005t0009g0045 a0001c0014t0017g0175 a0001c0005t0009g0045 a0001c0014t0017g0175	2	322	0.0062	10	c.141 others(29): Show c.1416-2361_1416-2352dupTTTTTTTTTT	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(3): Show GTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01168.hp1 HG01192.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01928.hp2 HG01952.hp2 HG01993.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp1 HG03486.hp1 HG03490.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18953.hp1 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp2 NA19005.hp2 NA19043.hp2 NA19058.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19086.hp1 NA19090.hp2 NA19091.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0003 a0003c0005 others(1): Show a0001c0001 a0002c0003 a0003c0005 a0004c0006	a0001c0001t0001 a0001c0001t0015 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0015 a0002c0003t0001 a0003c0005t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0024 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0015g0060 a0002c0003t0001g0004 a0002c0003t0001g0058 a0002c0003t0001g0063 a0002c0003t0001g0064 a0003c0005t0001g0006 a0003c0005t0001g0068 a0004c0006t0001g0016	89	398	0.2236	10	c.-50 others(19): Show c.-506_-505insAAAAAAAAAA	CASP1	ENSG00000137752.25	transcript	ENST00000533400.6	protein_coding		475		chr11	TogoVar
CASP1_chr11_105020508_105040144	105035619	T T	TTTTTTTT others(3): Show TTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01168.hp2 HG03654.hp1 HG01074.hp2 HG01168.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	398	0.0075	10	c.-50 others(19): Show c.-507_-506insCAAAAAAAAA	CASP1	ENSG00000137752.25	transcript	ENST00000533400.6	protein_coding		476		chr11	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0093 a0001c0001t0011g0093	1	366	0.0027	10	c.483 others(25): Show c.483+213_483+222dupTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP3_chr4_184622696_184654447	184636744	T T	TAAATCCT others(3): Show TAAATCCTGAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00558.hp2 others(111): Show HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01099.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03225.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19075.hp2 NA19077.hp2 NA19083.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0009 others(63): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0003g0017 a0001c0001t0003g0033 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0015g0110 a0001c0001t0021g0204 a0001c0001t0022g0174 a0001c0001t0023g0217	114	366	0.3115	10	c.54- others(25): Show c.54-1336_54-1327dupTTCAGGATTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	3/7			chr4	TogoVar
CASP4_chr11_104937866_104973574	104948815	G G	GAAACAGA others(3): Show GAAACAGACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01168.hp1 HG01169.hp2 others(17): Show HG00639.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG02055.hp2 HG02109.hp1 HG02165.hp1 HG02280.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02976.hp2 HG03209.hp2 NA18522.hp2 NA18971.hp2 NA19030.hp2 NA19043.hp2 NA19072.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0003t0001 a0003c0005t0001 a0001c0001t0001 a0001c0003t0001 a0003c0005t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0064 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0064 a0001c0001t0001g0118 a0001c0001t0001g0161 a0001c0003t0001g0087 a0003c0005t0001g0010 a0003c0005t0001g0062	20	358	0.0559	10	c.782 others(25): Show c.782-140_782-139insGTGTCTGTTT	CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	5/8			chr11	TogoVar
CASP4_chr11_104937866_104973574	104950797	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02698.hp2 HG02738.hp1 others(11): Show HG02027.hp1 HG02698.hp2 HG02738.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03831.hp2 HG06807.hp1 NA18522.hp1 NA18954.hp1 NA18966.hp2 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0003c0005t0001	a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0001g0091 others(11): Show a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0167 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0003t0002g0210 a0003c0005t0001g0062	14	358	0.0391	10	c.546 others(25): Show c.546+118_546+127dupGTGTGTGTGT	CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	4/8			chr11	TogoVar
CASP5_chr11_104989243_105028168	105005356	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01884.hp1 others(3): Show HG01256.hp1 HG01258.hp2 HG01884.hp1 HG01891.hp1 HG02895.hp2 HG02897.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0012 a0003c0003 a0007c0012	a0003c0003t0001 a0007c0012t0001 a0003c0003t0001 a0007c0012t0001	a0003c0003t0001g0014 a0003c0003t0001g0045 a0003c0003t0001g0047 others(1): Show a0003c0003t0001g0014 a0003c0003t0001g0045 a0003c0003t0001g0047 a0007c0012t0001g0015	6	396	0.0152	10	c.433 others(27): Show c.433+1717_433+1726dupCACACACACA	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	3/9			chr11	TogoVar
CASP5_chr11_104989243_105028168	105009720	C C	CACACACA others(3): Show CACACACACAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0001 a0017c0026t0001	a0017c0026t0001g0051 a0017c0026t0001g0051	1	396	0.0025	10	c.8-7 others(21): Show c.8-741_8-740insATGTGTGTGT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASP5_chr11_104989243_105028168	105009720	C C	CACACACA others(3): Show CACACACATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02004.hp2 HG02257.hp2 HG01934.hp1 HG02004.hp2 HG02257.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0070 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0070	3	396	0.0076	10	c.8-7 others(21): Show c.8-741_8-740insATATGTGTGT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASP6_chr4_109683628_109708445	109706129	T T	TTATATAT others(3): Show TTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02559.hp1 others(2): Show HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02723.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0005 a0001c0002t0006	a0001c0001t0001g0002 a0001c0001t0003g0044 a0001c0002t0005g0141 others(1): Show a0001c0001t0001g0002 a0001c0001t0003g0044 a0001c0002t0005g0141 a0001c0002t0006g0011	5	416	0.0120	10	c.-27 others(21): Show c.-2735_-2734insTATATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2685		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706131	T T	TTATATAT others(3): Show TTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01106.hp1 HG01346.hp1 others(20): Show HG00673.hp1 HG01106.hp1 HG01346.hp1 HG01981.hp2 HG02056.hp1 HG02074.hp2 HG02896.hp2 HG03710.hp2 NA18944.hp2 NA18945.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA19004.hp1 NA19007.hp2 NA19063.hp1 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0014	a0001c0001t0001g0172 a0001c0001t0002g0001 a0001c0001t0002g0004 others(9): Show a0001c0001t0001g0172 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0027 a0001c0001t0002g0052 a0001c0001t0002g0169 a0001c0001t0003g0015 a0001c0001t0003g0050 a0001c0001t0003g0158 a0001c0001t0005g0049 a0001c0001t0011g0182 a0001c0001t0014g0170	23	416	0.0553	10	c.-27 others(21): Show c.-2737_-2736insTATATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2687		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706170	T T	TATATATA others(3): Show TATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	416	0.0024	10	c.-27 others(21): Show c.-2776_-2775insGTATATATAT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2726		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706174	C C	CATACATA others(3): Show CATACATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 NA18986.hp1 HG03831.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0080 a0001c0001t0003g0095 a0001c0001t0001g0080 a0001c0001t0003g0095	2	416	0.0048	10	c.-27 others(21): Show c.-2780_-2779insATGTATGTAT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2730		chr4	TogoVar
CASP7_chr10_113674912_113735905	113678968	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02486.hp2 others(2): Show HG01109.hp2 HG01891.hp1 HG02486.hp2 HG02622.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014	a0001c0001t0004g0008 a0001c0001t0004g0152 a0001c0001t0005g0150 others(1): Show a0001c0001t0004g0008 a0001c0001t0004g0152 a0001c0001t0005g0150 a0001c0001t0014g0151	5	406	0.0123	10	c.-10 others(21): Show c.-1011_-1010insGTGTGTGTGT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding		943		chr10	TogoVar
CASP7_chr10_113674912_113735905	113687812	C C	CTTTCTTT others(3): Show CTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03831.hp1 HG00735.hp2 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0344 a0002c0002t0001g0372 a0002c0002t0001g0344 a0002c0002t0001g0372	2	406	0.0049	10	c.-1+ others(25): Show c.-1+7836_-1+7845dupTTCTTTCTTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP8_chr2_201255536_201292709	201281933	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG01515.hp1 others(10): Show HG00741.hp1 HG01175.hp2 HG01515.hp1 HG01891.hp2 HG02145.hp1 HG02630.hp2 HG02818.hp1 HG02970.hp2 HG03491.hp2 HG03579.hp2 HG04228.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0059 a0001c0001t0004g0073 a0001c0001t0004g0074 others(10): Show a0001c0001t0004g0059 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0079 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0005g0058 a0001c0001t0005g0206 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0262 a0001c0001t0005g0263 a0001c0001t0005g0264	13	386	0.0337	10	c.803 others(27): Show c.803-2870_803-2861dupTTTTTTTTTT	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP8_chr2_201255536_201292709	201281955	T T	TTTTTTTT others(3): Show TTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0266 a0001c0001t0004g0266	1	386	0.0026	10	c.803 others(27): Show c.803-2861_803-2860insTTTTTTTTTA	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8			chr2	TogoVar
CASQ1_chr1_160185575_160206886	160186086	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01515.hp2 HG01517.hp2 others(8): Show HG00741.hp2 HG01515.hp2 HG01517.hp2 HG02055.hp2 HG02280.hp2 HG02451.hp1 HG03098.hp1 HG03139.hp2 HG04115.hp2 NA18522.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0018 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0045 a0001c0001t0001g0100 a0002c0004t0002g0117 a0002c0004t0002g0119	11	440	0.0250	10	c.-46 others(21): Show c.-4666_-4665insAAAAAAAAAA	CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding		4488		chr1	TogoVar
CASQ2_chr1_115695021_115773714	115757211	G G	GCATTTCT others(3): Show GCATTTCTGTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0340 a0002c0003t0001g0340	1	364	0.0028	10	c.234 others(29): Show c.234+11087_234+11096dupAACAGAAATG	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761528	A A	AGAAGAAG others(3): Show AGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02486.hp1 HG02970.hp1 others(5): Show HG00609.hp2 HG02486.hp1 HG02970.hp1 HG03195.hp1 NA18939.hp2 NA18994.hp1 NA19080.hp1 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0004 a0002c0013 others(1): Show a0002c0003 a0002c0004 a0002c0013 a0003c0012	a0002c0003t0001 a0002c0004t0002 a0002c0004t0004 others(2): Show a0002c0003t0001 a0002c0004t0002 a0002c0004t0004 a0002c0013t0009 a0003c0012t0004	a0002c0003t0001g0270 a0002c0003t0001g0271 a0002c0003t0001g0344 others(5): Show a0002c0003t0001g0270 a0002c0003t0001g0271 a0002c0003t0001g0344 a0002c0004t0002g0308 a0002c0004t0002g0343 a0002c0004t0004g0346 a0002c0013t0009g0309 a0003c0012t0004g0244	8	364	0.0220	10	c.234 others(27): Show c.234+6779_234+6780insCTTCTTCTTC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761530	A A	AAGAAGAA others(3): Show AAGAAGAAGAG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0210 a0001c0002t0003g0210	1	364	0.0028	10	c.234 others(27): Show c.234+6777_234+6778insCTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115773214	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 NA18949.hp2 NA18962.hp2 HG00558.hp2 NA18949.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0037 a0001c0002t0003g0039 a0001c0002t0003g0190 a0001c0002t0003g0037 a0001c0002t0003g0039 a0001c0002t0003g0190	3	364	0.0082	10	c.-46 others(21): Show c.-4674_-4673insCACACACACA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding		4501		chr1	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(3): Show AGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	314	0.0032	10	c.-24 others(29): Show c.-242-1539_-242-1538insGGAAGGAAGG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122272091	G G	GTACACAC others(3): Show GTACACACACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01071.hp1 others(14): Show HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01884.hp2 HG02148.hp2 HG02738.hp2 HG03098.hp1 HG03688.hp2 HG04199.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0043 a0001c0001t0003 a0001c0001t0043	a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0022 others(12): Show a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0022 a0001c0001t0003g0101 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0126 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0303 a0001c0001t0043g0290	17	314	0.0541	10	c.137 others(29): Show c.1378-3721_1378-3720insTACACACACA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	4/6			chr3	TogoVar
CASTOR2_chr7_74959705_75036528	74960666	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 NA20752.hp2 HG02258.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0051 a0001c0001t0001 a0001c0001t0051	a0001c0001t0001g0005 a0001c0001t0051g0011 a0001c0001t0001g0005 a0001c0001t0051g0011	2	228	0.0088	10	c.-43 others(21): Show c.-4320_-4319insAAAAAAAAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4038		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74960679	A A	AATATATA others(3): Show AATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0207 a0001c0001t0022g0207	1	228	0.0044	10	c.-43 others(21): Show c.-4307_-4306insATATATATAT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4025		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74960681	A A	AAAAAAAA others(3): Show AAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0009 a0001c0001t0079g0009	1	228	0.0044	10	c.-43 others(21): Show c.-4305_-4304insAAAAAAATAT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4023		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74995511	G G	GAAAAAAA others(3): Show GAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp1 HG02056.hp2 others(17): Show HG00639.hp1 HG01884.hp1 HG02056.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02895.hp2 HG03195.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0053 a0001c0001t0068 a0001c0001t0078 a0001c0001t0086 a0001c0003t0001 a0001c0003t0010 a0001c0003t0081	a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 others(17): Show a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0061 a0001c0001t0005g0028 a0001c0001t0008g0040 a0001c0001t0008g0050 a0001c0001t0008g0054 a0001c0001t0009g0041 a0001c0001t0009g0045 a0001c0001t0014g0058 a0001c0001t0053g0036 a0001c0001t0068g0043 a0001c0001t0078g0063 a0001c0001t0086g0016 a0001c0003t0001g0042 a0001c0003t0010g0039 a0001c0003t0081g0047	20	228	0.0877	10	c.114 others(29): Show c.114-12478_114-12469dupAAAAAAAAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAST_chr5_96657376_96779683	96662653	G G	GGCAGGTG others(3): Show GGCAGGTGGCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01981.hp1 HG02015.hp2 others(3): Show HG00738.hp1 HG01981.hp1 HG02015.hp2 HG02155.hp1 HG02738.hp1 HG03831.hp1	a0006 a0007 a0006 a0007	a0006c0009 a0007c0015 a0006c0009 a0007c0015	a0006c0009t0008 a0007c0015t0012 a0006c0009t0008 a0007c0015t0012	a0006c0009t0008g0139 a0006c0009t0008g0140 a0006c0009t0008g0141 others(3): Show a0006c0009t0008g0139 a0006c0009t0008g0140 a0006c0009t0008g0141 a0006c0009t0008g0142 a0007c0015t0012g0137 a0007c0015t0012g0138	6	358	0.0168	10	c.75+ others(23): Show c.75+165_75+166insAGCAGGTGGC	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96662653	G G	GGCAGGTG others(3): Show GGCAGGTGGCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(127): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03017.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0012 a0014	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0028 a0002c0003 a0002c0004 a0002c0006 a0002c0013 a0002c0022 a0002c0024 a0004c0008 a0004c0029 a0012c0025 a0014c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0022 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0017 a0001c0002t0020 a0001c0005t0001 a0001c0005t0007 a0001c0005t0009 a0001c0028t0001 a0002c0003t0001 a0002c0003t0003 a0002c0004t0002 a0002c0004t0003 a0002c0004t0005 a0002c0004t0021 a0002c0006t0003 a0002c0013t0001 a0002c0022t0013 a0002c0024t0001 a0004c0008t0011 a0004c0029t0001 a0012c0025t0001 a0014c0027t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(118): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0002g0001 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0226 a0001c0001t0006g0010 a0001c0001t0022g0182 a0001c0001t0023g0208 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0001g0235 a0001c0002t0001g0241 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0002g0202 a0001c0002t0003g0204 a0001c0002t0017g0195 a0001c0002t0017g0219 a0001c0002t0020g0161 a0001c0005t0001g0244 a0001c0005t0007g0242 a0001c0005t0007g0243 a0001c0005t0007g0251 a0001c0005t0009g0007 a0001c0005t0009g0189 a0001c0028t0001g0230 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0003g0174 a0002c0004t0002g0144 a0002c0004t0003g0006 a0002c0004t0005g0190 a0002c0004t0021g0233 a0002c0006t0003g0201 a0002c0006t0003g0212 a0002c0006t0003g0213 a0002c0006t0003g0232 a0002c0006t0003g0237 a0002c0013t0001g0191 a0002c0013t0001g0234 a0002c0022t0013g0188 a0002c0024t0001g0225 a0004c0008t0011g0236 a0004c0008t0011g0238 a0004c0029t0001g0187 a0012c0025t0001g0019 a0014c0027t0001g0221	130	358	0.3631	10	c.75+ others(23): Show c.75+167_75+176dupGCAGGTGGCT	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96666255	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0126 a0002c0004t0001g0126	1	358	0.0028	10	c.75+ others(25): Show c.75+3759_75+3760insCACACACACA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96666257	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01109.hp1 others(24): Show HG00741.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG02109.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03516.hp2 HG06807.hp1 NA18522.hp1 NA18967.hp1 NA19030.hp1 NA19030.hp2 NA19065.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0011 a0001c0018 others(4): Show a0001c0001 a0001c0011 a0001c0018 a0002c0004 a0003c0007 a0004c0008 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0011t0002 a0001c0018t0010 a0002c0004t0001 a0002c0004t0005 a0002c0004t0013 a0003c0007t0002 a0004c0008t0011 a0008c0014t0002	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0166 others(23): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0002g0013 a0001c0001t0002g0034 a0001c0001t0002g0045 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0010g0028 a0001c0011t0002g0102 a0001c0011t0002g0103 a0001c0011t0002g0104 a0001c0018t0010g0029 a0002c0004t0001g0101 a0002c0004t0005g0030 a0002c0004t0005g0031 a0002c0004t0005g0032 a0002c0004t0005g0033 a0002c0004t0005g0105 a0002c0004t0013g0258 a0002c0004t0013g0259 a0003c0007t0002g0112 a0004c0008t0011g0238 a0008c0014t0002g0110 a0008c0014t0002g0111	27	358	0.0754	10	c.75+ others(25): Show c.75+3773_75+3782dupACACACACAC	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96666279	C C	CACACACA others(3): Show CACACACACCA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0049 a0002c0004t0001g0049	1	358	0.0028	10	c.75+ others(25): Show c.75+3782_75+3783insACACACACCA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	1/31			chr5	TogoVar
CAST_chr5_96657376_96779683	96680354	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03540.hp1 HG03225.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0036 a0002c0004t0001g0120 a0001c0001t0002g0036 a0002c0004t0001g0120	2	358	0.0056	10	c.138 others(27): Show c.138+4769_138+4778dupAAAAAAAAAA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96696686	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02896.hp1 HG02897.hp2 others(7): Show HG01099.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03491.hp2 NA18948.hp1 NA18962.hp2 NA19030.hp1 NA19056.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0017 others(2): Show a0001c0001 a0001c0002 a0001c0017 a0002c0004 a0002c0006	a0001c0001t0002 a0001c0002t0001 a0001c0017t0001 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0017t0001 a0002c0004t0013 a0002c0006t0003	a0001c0001t0002g0013 a0001c0002t0001g0184 a0001c0002t0001g0194 others(6): Show a0001c0001t0002g0013 a0001c0002t0001g0184 a0001c0002t0001g0194 a0001c0002t0001g0206 a0001c0002t0001g0249 a0001c0017t0001g0025 a0002c0004t0013g0258 a0002c0004t0013g0259 a0002c0006t0003g0237	10	358	0.0279	10	c.210 others(25): Show c.210+783_210+792dupAAAAAAAAAA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96722934	G G	GTTGTTTT others(3): Show GTTGTTTTGTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19084.hp2 NA18959.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0150 a0001c0001t0001g0158	2	358	0.0056	10	c.270 others(25): Show c.270+255_270+264dupTTTTGTTTTG	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96752961	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01071.hp1 others(14): Show HG00280.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02109.hp1 HG03669.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0001t0018 a0001c0020t0004	a0001c0001t0001g0108 a0001c0001t0004g0014 a0001c0001t0004g0132 others(12): Show a0001c0001t0001g0108 a0001c0001t0004g0014 a0001c0001t0004g0132 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0269 a0001c0001t0004g0272 a0001c0001t0004g0277 a0001c0001t0004g0285 a0001c0001t0016g0004 a0001c0001t0018g0274 a0001c0020t0004g0022	17	358	0.0475	10	c.152 others(29): Show c.1525-1078_1525-1069dupACACACACAC	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	20/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CASZ1_chr1_10631604_10801646	10700078	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0085 a0001c0004t0022g0085	1	236	0.0042	10	c.-24 others(27): Show c.-24+5413_-24+5414insGTGTGTGTGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar

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