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
CASS4_chr20_56407260_56465382	56443469	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0187 a0001c0009t0010g0187	1	376	0.0027	14	c.460 others(31): Show c.460-2420_460-2419insAAAAAAAAAAAAAA	CASS4	ENSG00000087589.17	transcript	ENST00000679887.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
CASTOR2_chr7_74959705_75036528	74960666	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0013 a0001c0001t0063g0013	1	228	0.0044	14	c.-43 others(25): Show c.-4320_-4319insAAAAAAAAAAAAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4038		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74960681	A A	AAAATATA others(7): Show AAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0036 a0001c0001t0053g0036	1	228	0.0044	14	c.-43 others(25): Show c.-4305_-4304insAAATATATATATAT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4023		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74960712	A A	ATATATAT others(7): Show ATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0030 a0001c0001t0074g0030	1	228	0.0044	14	c.-42 others(25): Show c.-4274_-4273insTATATATATATTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		3992		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965905	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0225	1	228	0.0044	14	c.113 others(29): Show c.113+815_113+816insTCTCTGTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965912	T T	TCTCTCTC others(7): Show TCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0218 a0001c0001t0049g0218	1	228	0.0044	14	c.113 others(29): Show c.113+815_113+816insTCTCTCTCTCTCAC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026189	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp2 HG01891.hp1 HG01192.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0087 a0001c0001t0031g0092 a0001c0001t0031g0087 a0001c0001t0031g0092	2	228	0.0088	14	c.14 others(25): Show c.1494_*1507dupTTTTTTTTTTTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9	1508	INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026192	T T	TTTTGTTT others(7): Show TTTTGTTTTTTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp2 HG02647.hp2 HG02896.hp2 others(2): Show HG02040.hp2 HG02647.hp2 HG02896.hp2 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0047 a0001c0001t0082 others(1): Show a0001c0001t0023 a0001c0001t0047 a0001c0001t0082 a0001c0001t0083	a0001c0001t0023g0191 a0001c0001t0023g0193 a0001c0001t0047g0190 others(2): Show a0001c0001t0023g0191 a0001c0001t0023g0193 a0001c0001t0047g0190 a0001c0001t0082g0004 a0001c0001t0083g0079	5	228	0.0219	14	c.14 others(25): Show c.1496_*1497insGTTTTTTTTTGTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9	1497	INFO_REALIGN_3_PRIME	chr7	TogoVar
CAST_chr5_96657376_96779683	96666257	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp1 HG02922.hp2 others(2): Show HG01109.hp2 HG01255.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0007 a0005c0010 a0001c0001 a0003c0007 a0005c0010	a0001c0001t0001 a0003c0007t0002 a0005c0010t0014 a0001c0001t0001 a0003c0007t0002 a0005c0010t0014	a0001c0001t0001g0051 a0003c0007t0002g0050 a0005c0010t0014g0043 others(2): Show a0001c0001t0001g0051 a0003c0007t0002g0050 a0005c0010t0014g0043 a0005c0010t0014g0044 a0005c0010t0014g0131	5	358	0.0140	14	c.75+ others(29): Show c.75+3769_75+3782dupACACACACACACAC	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96680354	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02080.hp2 HG03453.hp2 HG01361.hp1 HG02080.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0065 a0001c0001t0010g0028 a0001c0001t0010g0038 a0001c0001t0002g0065 a0001c0001t0010g0028 a0001c0001t0010g0038	3	358	0.0084	14	c.138 others(31): Show c.138+4765_138+4778dupAAAAAAAAAAAAAA	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(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00544.hp2 others(57): Show HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00609.hp2 HG01069.hp2 HG01346.hp2 HG01891.hp2 HG01943.hp2 HG01978.hp2 HG02135.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18942.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp2 NA18959.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18973.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp2 NA18989.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19004.hp1 NA19006.hp2 NA19009.hp1 NA19043.hp1 NA19060.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0001c0021 others(5): Show a0001c0001 a0001c0005 a0001c0021 a0002c0003 a0002c0004 a0002c0013 a0002c0022 a0004c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0022 a0001c0005t0001 a0001c0005t0007 a0001c0005t0009 a0001c0021t0009 a0002c0003t0003 a0002c0004t0002 a0002c0004t0003 a0002c0004t0005 a0002c0004t0021 a0002c0013t0001 a0002c0022t0013 a0004c0029t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(51): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0002g0001 a0001c0001t0002g0148 a0001c0001t0006g0010 a0001c0001t0022g0182 a0001c0005t0001g0244 a0001c0005t0007g0242 a0001c0005t0007g0243 a0001c0005t0007g0251 a0001c0005t0009g0007 a0001c0005t0009g0189 a0001c0021t0009g0035 a0002c0003t0003g0174 a0002c0003t0003g0338 a0002c0004t0002g0144 a0002c0004t0003g0006 a0002c0004t0005g0027 a0002c0004t0005g0030 a0002c0004t0005g0031 a0002c0004t0005g0032 a0002c0004t0005g0033 a0002c0004t0005g0190 a0002c0004t0021g0233 a0002c0013t0001g0234 a0002c0022t0013g0188 a0004c0029t0001g0187	60	358	0.1676	14	c.210 others(29): Show c.210+792_210+793insAAAAAAAAAAAAAA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CASZ1_chr1_10631604_10801646	10700080	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02572.hp2 HG03139.hp1 others(3): Show HG01496.hp2 HG02572.hp2 HG03139.hp1 HG03209.hp2 NA19043.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0001c0012 others(2): Show a0001c0002 a0001c0004 a0001c0012 a0001c0034 a0004c0005	a0001c0002t0001 a0001c0002t0004 a0001c0004t0022 others(3): Show a0001c0002t0001 a0001c0002t0004 a0001c0004t0022 a0001c0012t0001 a0001c0034t0001 a0004c0005t0001	a0001c0002t0001g0120 a0001c0002t0004g0199 a0001c0004t0022g0056 others(3): Show a0001c0002t0001g0120 a0001c0002t0004g0199 a0001c0004t0022g0056 a0001c0012t0001g0172 a0001c0034t0001g0109 a0004c0005t0001g0209	6	236	0.0254	14	c.-24 others(31): Show c.-24+5398_-24+5411dupGTGTGTGTGTGTGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10767972	A A	ACCCCAGA others(7): Show ACCCCAGACTCCACC	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0110 a0001c0001t0055g0110	1	236	0.0042	14	c.-23 others(33): Show c.-233-7129_-233-7116dupGGTGGAGTCTGGGG	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	1/20			chr1	TogoVar
CATIP_chr2_218351857_218373094	218357259	G G	GTCTCTCT others(7): Show GTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG00733.hp2 others(31): Show HG00140.hp2 HG00733.hp1 HG00733.hp2 HG01074.hp2 HG01081.hp2 HG01192.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02109.hp1 HG02630.hp1 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG03139.hp1 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG04199.hp2 NA18943.hp1 NA18948.hp1 NA18962.hp1 NA18967.hp2 NA18990.hp1 NA18998.hp1 NA19012.hp1 NA19057.hp1 NA19074.hp1 NA19075.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0115 others(20): Show a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0117 a0002c0003t0001g0121 a0002c0003t0001g0122	34	366	0.0929	14	c.118 others(28): Show c.118+90_118+103dupCTCTCTCTCTCTCT	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPER2_chr15_43623503_43653844	43638286	C C	CTTTCTTT others(7): Show CTTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0197 a0002c0002t0009g0197	1	392	0.0026	14	c.842 others(29): Show c.842+617_842+618insAAAAAAAAAAGAAA	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	7/12			chr15	TogoVar
CATSPER4_chr1_26185602_26207964	26199598	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0042 a0010c0018t0001g0042	1	398	0.0025	14	c.813 others(29): Show c.813-273_813-272insAAAAAAAAAAAAAA	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91586561	G G	GAGAGAGA others(7): Show GAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	271	0.0037	14	c.313 others(31): Show c.3132+640_3132+641insTTCTCTCTCTCTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91586563	G G	GAGAGAGA others(7): Show GAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00733.hp1 others(61): Show HG00140.hp2 HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01361.hp2 HG01928.hp2 HG01978.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03490.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG04184.hp2 NA18612.hp2 NA18944.hp1 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18963.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp2 NA18990.hp2 NA18992.hp1 NA19000.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19079.hp2 NA19084.hp2 NA19087.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0002c0003t0001 a0002c0003t0003 a0003c0004t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 others(61): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0264 a0001c0001t0004g0003 a0001c0001t0004g0004 a0002c0003t0001g0037 a0002c0003t0001g0061 a0002c0003t0001g0138 a0002c0003t0001g0141 a0002c0003t0001g0145 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0003g0267 a0002c0003t0003g0270 a0002c0003t0003g0271 a0003c0004t0001g0025 a0003c0004t0001g0113 a0003c0004t0001g0256	64	271	0.2362	14	c.313 others(31): Show c.3132+638_3132+639insTTCTCTCTCTCTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91586565	G G	GAGAGAGA others(7): Show GAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	271	0.0037	14	c.313 others(31): Show c.3132+636_3132+637insTTCTCTCTCTCTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91586571	A A	AAGAGAGA others(7): Show AAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	271	0.0037	14	c.313 others(31): Show c.3132+617_3132+630dupCTCTCTCTCTCTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91612012	T T	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	271	0.0037	14	c.240 others(33): Show c.2401-1336_2401-1335insGAAAGAAAGAAAGA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	20/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91661524	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG02165.hp2 others(1): Show HG00735.hp1 HG01167.hp2 HG02165.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0228 others(1): Show a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0228 a0001c0001t0002g0175	4	271	0.0148	14	c.128 others(33): Show c.1288-1557_1288-1544dupATATATATATATAT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	14/26			chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5716253	A A	AATATATA others(7): Show AATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0319 a0004c0003t0001g0319	1	336	0.0030	14	c.-44 others(25): Show c.-4485_-4484insATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4383		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5716259	C C	CATATATA others(7): Show CATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG00642.hp1 others(20): Show HG00323.hp2 HG00609.hp1 HG00642.hp1 HG00738.hp2 HG01175.hp1 HG01255.hp2 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG02109.hp2 HG02145.hp2 HG02523.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02886.hp1 HG02976.hp2 HG03239.hp1 HG03540.hp2 NA18968.hp2 NA18971.hp2 NA19060.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0009 a0021 a0022	a0001c0001 a0002c0002 a0003c0004 others(3): Show a0001c0001 a0002c0002 a0003c0004 a0009c0012 a0021c0023 a0022c0025	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0004t0001 a0003c0004t0003 a0009c0012t0001 a0021c0023t0001 a0022c0025t0001	a0001c0001t0001g0038 a0001c0001t0001g0189 a0001c0001t0001g0221 others(20): Show a0001c0001t0001g0038 a0001c0001t0001g0189 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0310 a0001c0001t0002g0024 a0002c0002t0001g0057 a0002c0002t0001g0069 a0002c0002t0001g0085 a0002c0002t0001g0201 a0002c0002t0001g0250 a0002c0002t0001g0326 a0003c0004t0001g0095 a0003c0004t0001g0148 a0003c0004t0001g0196 a0003c0004t0001g0324 a0003c0004t0001g0333 a0003c0004t0003g0083 a0009c0012t0001g0153 a0009c0012t0001g0156 a0009c0012t0001g0159 a0021c0023t0001g0052 a0022c0025t0001g0146	23	336	0.0685	14	c.-44 others(25): Show c.-4479_-4478insATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4377		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5739842	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp2 HG01243.hp2 others(3): Show HG00741.hp2 HG01192.hp2 HG01243.hp2 HG02630.hp1 HG03669.hp1 NA18954.hp2	a0001 a0004 a0020 others(2): Show a0001 a0004 a0020 a0033 a0034	a0001c0001 a0001c0045 a0004c0003 others(3): Show a0001c0001 a0001c0045 a0004c0003 a0020c0021 a0033c0047 a0034c0046	a0001c0001t0001 a0001c0045t0001 a0004c0003t0001 others(3): Show a0001c0001t0001 a0001c0045t0001 a0004c0003t0001 a0020c0021t0001 a0033c0047t0001 a0034c0046t0001	a0001c0001t0001g0304 a0001c0045t0001g0151 a0004c0003t0001g0302 others(3): Show a0001c0001t0001g0304 a0001c0045t0001g0151 a0004c0003t0001g0302 a0020c0021t0001g0019 a0033c0047t0001g0004 a0034c0046t0001g0005	6	336	0.0179	14	c.573 others(29): Show c.573+414_573+415insAAGAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741785	C C	CGGGGGGG others(7): Show CGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01071.hp2 HG01257.hp1 others(3): Show HG00642.hp1 HG01071.hp2 HG01257.hp1 HG01891.hp1 HG02976.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0022	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0022c0025	a0001c0001t0001 a0002c0002t0003 a0003c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0003 a0003c0004t0001 a0022c0025t0001	a0001c0001t0001g0078 a0001c0001t0001g0128 a0001c0001t0001g0134 others(3): Show a0001c0001t0001g0078 a0001c0001t0001g0128 a0001c0001t0001g0134 a0002c0002t0003g0072 a0003c0004t0001g0058 a0022c0025t0001g0146	6	336	0.0179	14	c.573 others(31): Show c.573+2359_573+2360insGGGGGGGGGGGGGG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5750450	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0196 a0003c0004t0001g0196	1	336	0.0030	14	c.988 others(31): Show c.988-1187_988-1174dupAAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762041	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0142 a0001c0001t0005g0142	1	336	0.0030	14	c.142 others(33): Show c.1428-1169_1428-1156dupATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03486.hp2 HG03927.hp1 others(1): Show HG02886.hp1 HG03486.hp2 HG03927.hp1 NA18972.hp2	a0003 a0018 a0003 a0018	a0003c0004 a0018c0020 a0003c0004 a0018c0020	a0003c0004t0001 a0018c0020t0001 a0003c0004t0001 a0018c0020t0001	a0003c0004t0001g0287 a0003c0004t0001g0303 a0003c0004t0001g0333 others(1): Show a0003c0004t0001g0287 a0003c0004t0001g0303 a0003c0004t0001g0333 a0018c0020t0001g0018	4	336	0.0119	14	c.142 others(33): Show c.1428-1156_1428-1155insATATATATATTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(7): Show ATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG01361.hp1 others(8): Show HG00544.hp1 HG00621.hp2 HG01361.hp1 HG02027.hp1 HG02071.hp2 HG02074.hp1 HG04228.hp2 NA18943.hp1 NA19011.hp1 NA19011.hp2 NA19060.hp2	a0002 a0003 a0013 a0002 a0003 a0013	a0002c0002 a0003c0004 a0003c0005 others(2): Show a0002c0002 a0003c0004 a0003c0005 a0003c0041 a0013c0030	a0002c0002t0001 a0003c0004t0001 a0003c0005t0001 others(2): Show a0002c0002t0001 a0003c0004t0001 a0003c0005t0001 a0003c0041t0001 a0013c0030t0001	a0002c0002t0001g0283 a0003c0004t0001g0192 a0003c0004t0001g0216 others(8): Show a0002c0002t0001g0283 a0003c0004t0001g0192 a0003c0004t0001g0216 a0003c0004t0001g0244 a0003c0004t0001g0294 a0003c0004t0001g0322 a0003c0004t0001g0328 a0003c0005t0001g0214 a0003c0005t0001g0254 a0003c0041t0001g0329 a0013c0030t0001g0295	11	336	0.0327	14	c.142 others(33): Show c.1428-1156_1428-1155insATATATATTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(7): Show ATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0249 a0003c0005t0001g0249	1	336	0.0030	14	c.142 others(33): Show c.1428-1156_1428-1155insATATATTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATTT others(7): Show ATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	336	0.0030	14	c.142 others(33): Show c.1428-1156_1428-1155insATATTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATTTTT others(7): Show ATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA19043.hp1 HG00741.hp2 NA19043.hp1	a0001 a0034 a0001 a0034	a0001c0001 a0034c0046 a0001c0001 a0034c0046	a0001c0001t0001 a0034c0046t0001 a0001c0001t0001 a0034c0046t0001	a0001c0001t0001g0229 a0034c0046t0001g0005 a0001c0001t0001g0229 a0034c0046t0001g0005	2	336	0.0060	14	c.142 others(33): Show c.1428-1156_1428-1155insATTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244528785	C C	CCACACAC others(7): Show CCACACACGCACGCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0133 a0001c0007t0001g0133	1	206	0.0049	14	c.536 others(33): Show c.536+10094_536+10095insGCACGCACACACAC	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244528785	C C	CCACGCAC others(7): Show CCACGCACGCGCACA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp1 HG02257.hp2 others(5): Show HG01496.hp1 HG01891.hp1 HG02257.hp2 HG02723.hp2 HG02922.hp2 HG03209.hp1 NA18522.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0019 a0002c0021 a0001c0003 a0001c0019 a0002c0021	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(2): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0019t0004 a0002c0021t0001	a0001c0003t0001g0045 a0001c0003t0001g0087 a0001c0003t0001g0198 others(5): Show a0001c0003t0001g0045 a0001c0003t0001g0087 a0001c0003t0001g0198 a0001c0003t0002g0006 a0001c0003t0002g0083 a0001c0003t0003g0190 a0001c0019t0004g0175 a0002c0021t0001g0065	8	206	0.0388	14	c.536 others(33): Show c.536+10090_536+10091insGCACGCGCACACAC	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244553602	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA19007.hp2 HG02148.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0177 a0001c0002t0002g0111 a0001c0001t0003g0177 a0001c0002t0002g0111	2	206	0.0097	14	c.102 others(31): Show c.1029+818_1029+831dupCACACACACACACA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244557532	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01346.hp2 HG02148.hp2 others(5): Show HG00438.hp2 HG01346.hp2 HG02148.hp2 NA18943.hp2 NA19002.hp2 NA19084.hp2 NA19086.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0005t0001	a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0002g0024 others(5): Show a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0002g0024 a0001c0001t0002g0054 a0001c0001t0002g0126 a0001c0001t0003g0162 a0001c0001t0003g0188 a0003c0005t0001g0091	8	206	0.0388	14	c.103 others(33): Show c.1030-3098_1030-3085dupTATATATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244578823	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02145.hp1 HG03130.hp1 HG02074.hp1 HG02145.hp1 HG03130.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0002 a0007c0011t0001 a0001c0001t0002 a0007c0011t0001	a0001c0001t0002g0002 a0001c0001t0002g0047 a0007c0011t0001g0105 a0001c0001t0002g0002 a0001c0001t0002g0047 a0007c0011t0001g0105	3	206	0.0146	14	c.195 others(33): Show c.1951-2965_1951-2952dupTATATATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244578843	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	206	0.0049	14	c.195 others(33): Show c.1951-2952_1951-2951insTATATATATATACA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621315	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	206	0.0049	14	c.264 others(33): Show c.2648+3646_2648+3659dupATATATATATATAT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625426	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	206	0.0049	14	c.264 others(33): Show c.2648+7741_2648+7742insTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625428	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18906.hp1 HG03540.hp2 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0004 a0004c0009t0002 a0001c0002t0004 a0004c0009t0002	a0001c0002t0004g0173 a0004c0009t0002g0079 a0001c0002t0004g0173 a0004c0009t0002g0079	2	206	0.0097	14	c.264 others(33): Show c.2648+7743_2648+7744insTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625430	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01978.hp1 HG02258.hp2 others(8): Show HG01891.hp2 HG01978.hp1 HG02258.hp2 HG02572.hp1 HG02630.hp1 HG02717.hp2 HG02922.hp1 HG03540.hp1 NA18747.hp1 NA18943.hp1 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0006t0002 a0001c0006t0003 a0002c0004t0004	a0001c0001t0002g0134 a0001c0001t0004g0168 a0001c0001t0004g0169 others(8): Show a0001c0001t0002g0134 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0002t0002g0007 a0001c0002t0002g0011 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0140 a0001c0006t0002g0085 a0001c0006t0003g0150 a0002c0004t0004g0174	11	206	0.0534	14	c.264 others(33): Show c.2648+7745_2648+7746insTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATTTTT others(7): Show ATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	206	0.0049	14	c.264 others(33): Show c.2648+7747_2648+7748insATTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATTTGTTT others(7): Show ATTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0105 a0007c0011t0001g0105	1	206	0.0049	14	c.264 others(33): Show c.2648+7749_2648+7750insGTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02083.hp1 HG02615.hp2 others(4): Show HG00735.hp1 HG02083.hp1 HG02615.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0006t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0002 a0001c0007t0001	a0001c0001t0001g0100 a0001c0001t0004g0157 a0001c0001t0004g0166 others(4): Show a0001c0001t0001g0100 a0001c0001t0004g0157 a0001c0001t0004g0166 a0001c0006t0002g0084 a0001c0007t0001g0003 a0001c0007t0001g0144 a0001c0007t0001g0146	7	206	0.0340	14	c.264 others(33): Show c.2648+7748_2648+7761dupTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAT_chr11_34433934_34477060	34477038	A A	ACTGACTG others(7): Show ACTGACTGTTAAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	424	0.0024	14	c.56 others(25): Show c.5605_*5606insCTGACTGTTAAATG	CAT	ENSG00000121691.7	transcript	ENST00000241052.5	protein_coding		4979		chr11	TogoVar
CAV1_chr7_116520036_116566179	116523187	A A	AAGAAAGG others(7): Show AAGAAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01192.hp1 HG01433.hp2 HG01074.hp2 HG01192.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0005g0302 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0005g0302	3	342	0.0088	14	c.-18 others(25): Show c.-1876_-1875insAGAAAGGAAGGAAG	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		1848		chr7	TogoVar
CAV1_chr7_116520036_116566179	116523191	A A	AAGAAAGG others(7): Show AAGAAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	342	0.0029	14	c.-18 others(25): Show c.-1872_-1871insAGAAAGGAAGGAAG	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		1844		chr7	TogoVar
CAV1_chr7_116520036_116566179	116523195	A A	AAGAAAGG others(7): Show AAGAAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	342	0.0029	14	c.-18 others(25): Show c.-1868_-1867insAGAAAGGAAGGAAG	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		1840		chr7	TogoVar

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