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
CASZ1_chr1_10631604_10801646	10700080	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00735.hp2 others(7): Show HG00423.hp2 HG00438.hp2 HG00735.hp2 HG02083.hp1 HG02615.hp1 HG03098.hp1 NA18939.hp2 NA18950.hp2 NA18964.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0006 a0001c0002t0003 a0001c0003t0002 others(3): Show a0001c0001t0006 a0001c0002t0003 a0001c0003t0002 a0001c0003t0045 a0001c0003t0056 a0002c0006t0014	a0001c0001t0006g0214 a0001c0002t0003g0010 a0001c0003t0002g0046 others(7): Show a0001c0001t0006g0214 a0001c0002t0003g0010 a0001c0003t0002g0046 a0001c0003t0002g0105 a0001c0003t0002g0182 a0001c0003t0002g0195 a0001c0003t0002g0226 a0001c0003t0045g0081 a0001c0003t0056g0123 a0002c0006t0014g0074	10	236	0.0424	10	c.-24 others(27): Show c.-24+5402_-24+5411dupGTGTGTGTGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10718863	T T	TTTCTCTT others(3): Show TTTCTCTTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0175 a0001c0001t0060g0175	1	236	0.0042	10	c.-76 others(29): Show c.-76-13320_-76-13319insGAAAAGAGAA	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10792319	T T	TCCCCCTC others(3): Show TCCCCCTCCCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0016 a0003c0007t0016	a0003c0007t0016g0064 a0003c0007t0016g0064	1	236	0.0042	10	c.-23 others(29): Show c.-234+4244_-234+4245insGGGGAGGGGG	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	1/20			chr1	TogoVar
CATIP_chr2_218351857_218373094	218357259	G G	GTCTCTCT others(3): Show GTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01106.hp2 others(8): Show HG00099.hp2 HG00735.hp1 HG01106.hp2 HG01891.hp2 HG01993.hp1 HG02004.hp2 HG02273.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0033 a0001c0001t0001g0130 a0001c0001t0001g0133 others(6): Show a0001c0001t0001g0033 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0002t0001g0032 a0001c0002t0001g0132 a0002c0003t0001g0131	11	366	0.0301	10	c.118 others(24): Show c.118+94_118+103dupCTCTCTCTCT	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATIP_chr2_218351857_218373094	218359341	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02647.hp1 others(3): Show HG02055.hp2 HG02257.hp2 HG02647.hp1 HG02965.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0011 a0001c0001t0001g0177 a0001c0001t0001g0178	6	366	0.0164	10	c.376 others(27): Show c.376-1218_376-1209dupAAAAAAAAAA	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPER1_chr11_66011752_66031479	66027488	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG03942.hp1 HG02027.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0023t0001 a0001c0001t0001 a0001c0023t0001	a0001c0001t0001g0004 a0001c0023t0001g0111 a0001c0001t0001g0004 a0001c0023t0001g0111	2	408	0.0049	10	c.-11 others(21): Show c.-1110_-1109insAAAAAAAAAA	CATSPER1	ENSG00000175294.6	transcript	ENST00000312106.6	protein_coding		1010		chr11	TogoVar
CATSPER2_chr15_43623503_43653844	43627676	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02965.hp1 HG02615.hp1 HG02965.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0006 a0003c0003t0021 a0001c0001t0006 a0003c0003t0021	a0001c0001t0006g0012 a0003c0003t0021g0127 a0001c0001t0006g0012 a0003c0003t0021g0127	2	392	0.0051	10	c.30 others(21): Show c.3024_*3025insCACACACACA	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding		826		chr15	TogoVar
CATSPER2_chr15_43623503_43653844	43627805	T T	TGCGGGGT others(3): Show TGCGGGGTTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	392	0.0026	10	c.28 others(21): Show c.2895_*2896insCCAACCCCGC	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding		697		chr15	TogoVar
CATSPER2_chr15_43623503_43653844	43638286	C C	CTTTCTTT others(3): Show CTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0150 a0002c0002t0002g0150	1	392	0.0026	10	c.842 others(25): Show c.842+617_842+618insAAAAAAGAAA	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	7/12			chr15	TogoVar
CATSPERB_chr14_91575698_91737086	91586546	G G	GGAGAGAG others(3): Show GGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	271	0.0037	10	c.313 others(27): Show c.3132+646_3132+655dupTCTCTCTCTC	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91586563	G G	GAGAGAGA others(3): Show GAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp2 HG00741.hp1 others(60): Show HG00438.hp2 HG00735.hp2 HG00741.hp1 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02976.hp1 HG03453.hp1 HG03516.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA18992.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19076.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19240.hp1 NA20752.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0003 a0007c0007 a0001c0001 a0002c0003 a0007c0007	a0001c0001t0001 a0001c0001t0005 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0002c0003t0001 a0002c0003t0003 a0007c0007t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0016 others(60): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0005g0005 a0001c0001t0005g0006 a0002c0003t0001g0039 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0003g0269 a0007c0007t0001g0093	63	271	0.2325	10	c.313 others(27): Show c.3132+638_3132+639insTTCTCTCTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91586567	G G	GAGAGAGA others(3): Show GAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	271	0.0037	10	c.313 others(27): Show c.3132+634_3132+635insTTCTCTCTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91586571	A A	AAGAGAGA others(3): Show AAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	271	0.0037	10	c.313 others(27): Show c.3132+621_3132+630dupCTCTCTCTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91649362	T T	TGTGTGTG others(3): Show TGTGTGTGTAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG03540.hp1 HG02886.hp1 HG03098.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0002t0001g0161 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0002t0001g0161	3	271	0.0111	10	c.143 others(31): Show c.1433-10113_1433-10112insCTACACACAC	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91661524	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG01081.hp2 others(22): Show HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01175.hp1 HG01891.hp1 HG01928.hp1 HG01978.hp2 HG02004.hp2 HG02055.hp2 HG02280.hp2 HG02523.hp1 HG02922.hp1 HG03195.hp1 HG03239.hp2 HG03688.hp2 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA18947.hp2 NA18956.hp1 NA18965.hp2 NA18990.hp1 NA18997.hp1 NA19005.hp1 NA19057.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0004c0010 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0004c0010t0001 a0006c0008t0001	a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0057 others(22): Show a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0086 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0264 a0001c0001t0002g0247 a0001c0002t0001g0154 a0001c0002t0001g0255 a0001c0002t0002g0240 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0263 a0002c0003t0001g0037 a0004c0010t0001g0125 a0006c0008t0001g0047	25	271	0.0923	10	c.128 others(29): Show c.1288-1553_1288-1544dupATATATATAT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	14/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91702675	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(48): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01175.hp1 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp2 HG02129.hp2 HG02300.hp1 HG02615.hp2 HG02630.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG03225.hp2 HG03453.hp2 HG03540.hp2 HG04199.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18957.hp1 NA18963.hp1 NA18965.hp1 NA18969.hp1 NA18974.hp1 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA19009.hp1 NA19076.hp1 NA19087.hp1 NA19088.hp2 NA20752.hp2 NA20805.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0004 others(2): Show a0001c0001 a0001c0002 a0003c0004 a0003c0006 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0003c0004t0001 a0003c0006t0002 a0005c0009t0002	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(48): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0002g0040 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0117 a0001c0002t0002g0103 a0001c0002t0002g0110 a0001c0002t0002g0122 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0135 a0001c0002t0002g0136 a0003c0004t0001g0113 a0003c0006t0002g0131 a0005c0009t0002g0127	51	271	0.1882	10	c.616 others(27): Show c.616+1867_616+1876dupGTGTGTGTGT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	7/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91709524	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(84): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03540.hp2 HG03688.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18965.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18997.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0002c0003 others(6): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0003c0006 a0004c0010 a0005c0009 a0006c0008 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0003c0004t0001 a0003c0006t0002 a0004c0010t0001 a0005c0009t0002 a0006c0008t0001 a0007c0007t0001	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 others(84): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0002g0008 a0001c0001t0002g0021 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0002g0117 a0001c0002t0002g0053 a0001c0002t0002g0069 a0001c0002t0002g0076 a0001c0002t0002g0079 a0001c0002t0002g0085 a0001c0002t0002g0099 a0001c0002t0002g0103 a0001c0002t0002g0110 a0001c0002t0002g0115 a0001c0002t0002g0122 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0135 a0002c0003t0001g0037 a0002c0003t0001g0050 a0002c0003t0001g0061 a0002c0003t0001g0143 a0002c0003t0002g0139 a0003c0004t0001g0113 a0003c0006t0002g0131 a0004c0010t0001g0125 a0005c0009t0002g0127 a0006c0008t0001g0047 a0007c0007t0001g0093	87	271	0.3210	10	c.371 others(27): Show c.371-1298_371-1289dupTTTTTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	5/26			chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5716259	C C	CATATATA others(3): Show CATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG02486.hp1 HG02572.hp2 others(5): Show HG00323.hp1 HG02486.hp1 HG02572.hp2 HG02965.hp1 HG02970.hp2 HG03579.hp1 HG03654.hp2 NA18906.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0011 a0016 a0024 a0025	a0001c0001 a0002c0002 a0003c0004 others(4): Show a0001c0001 a0002c0002 a0003c0004 a0011c0008 a0016c0013 a0024c0035 a0025c0032	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0011c0008t0001 a0016c0013t0001 a0024c0035t0001 a0025c0032t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0002c0002t0001g0068 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0002c0002t0001g0068 a0003c0004t0001g0230 a0011c0008t0001g0014 a0016c0013t0001g0009 a0024c0035t0001g0152 a0025c0032t0001g0334	8	336	0.0238	10	c.-44 others(21): Show c.-4479_-4478insATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4377		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5728238	G G	GTCCCAGC others(3): Show GTCCCAGCTAC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0053 a0004c0003t0003g0053	1	336	0.0030	10	c.203 others(25): Show c.203+897_203+906dupCCAGCTACTC	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5731560	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02055.hp1 HG02055.hp2 others(4): Show HG01070.hp2 HG02055.hp1 HG02055.hp2 HG02647.hp2 HG03130.hp1 HG03209.hp2 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0001 a0001c0001t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0135 others(4): Show a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0135 a0001c0001t0002g0059 a0003c0004t0001g0061 a0003c0004t0001g0129 a0003c0004t0001g0336	7	336	0.0208	10	c.276 others(27): Show c.276+1633_276+1642dupTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741800	G G	GGGGGGGG others(3): Show GGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA20752.hp1 HG02886.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0046 a0003c0004t0001g0123 a0001c0001t0001g0046 a0003c0004t0001g0123	2	336	0.0060	10	c.573 others(27): Show c.573+2362_573+2363insGGGGGGGGTG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5743702	C C	CTCTCTCT others(3): Show CTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0025 a0006c0007t0001g0025	1	336	0.0030	10	c.574 others(25): Show c.574-720_574-719insCTCTGTCTCT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(3): Show ATATATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp2 HG02451.hp1 HG02965.hp2	a0006 a0030 a0006 a0030	a0006c0007 a0030c0038 a0006c0007 a0030c0038	a0006c0007t0002 a0030c0038t0002 a0006c0007t0002 a0030c0038t0002	a0006c0007t0002g0031 a0030c0038t0002g0317 a0006c0007t0002g0031 a0030c0038t0002g0317	2	336	0.0060	10	c.142 others(29): Show c.1428-1156_1428-1155insATATATATTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5763847	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00741.hp2 others(39): Show HG00408.hp1 HG00544.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01515.hp1 HG01978.hp1 HG01993.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02615.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG03139.hp2 HG03579.hp2 HG03927.hp1 NA18906.hp1 NA18942.hp1 NA18964.hp2 NA18966.hp2 NA18990.hp1 NA18998.hp2 NA19043.hp1 NA19089.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0016 a0025 a0026 a0030 a0034	a0001c0001 a0002c0002 a0003c0004 others(11): Show a0001c0001 a0002c0002 a0003c0004 a0003c0005 a0004c0003 a0006c0007 a0007c0010 a0008c0009 a0009c0012 a0016c0013 a0025c0032 a0026c0033 a0030c0038 a0034c0046	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0004t0001 a0003c0005t0001 a0004c0003t0001 a0006c0007t0002 a0007c0010t0001 a0008c0009t0001 a0009c0012t0001 a0016c0013t0001 a0025c0032t0001 a0026c0033t0001 a0030c0038t0002 a0034c0046t0001	a0001c0001t0001g0020 a0001c0001t0001g0089 a0001c0001t0001g0134 others(39): Show a0001c0001t0001g0020 a0001c0001t0001g0089 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0002g0107 a0001c0001t0002g0147 a0002c0002t0001g0044 a0002c0002t0001g0092 a0002c0002t0001g0115 a0002c0002t0001g0127 a0002c0002t0001g0180 a0002c0002t0001g0234 a0002c0002t0001g0251 a0002c0002t0001g0256 a0002c0002t0001g0261 a0002c0002t0001g0284 a0002c0002t0001g0292 a0002c0002t0001g0327 a0003c0004t0001g0094 a0003c0004t0001g0096 a0003c0004t0001g0098 a0003c0004t0001g0222 a0003c0004t0001g0244 a0003c0004t0001g0290 a0003c0004t0001g0294 a0003c0004t0001g0303 a0003c0004t0001g0322 a0003c0004t0001g0336 a0003c0005t0001g0239 a0004c0003t0001g0240 a0006c0007t0002g0031 a0007c0010t0001g0026 a0008c0009t0001g0016 a0009c0012t0001g0156 a0009c0012t0001g0159 a0016c0013t0001g0015 a0025c0032t0001g0334 a0026c0033t0001g0301 a0030c0038t0002g0317 a0034c0046t0001g0005	42	336	0.1250	10	c.150 others(27): Show c.1506+563_1506+572dupTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5779393	C C	CTCTCTTT others(3): Show CTCTCTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	336	0.0030	10	c.71 others(19): Show c.717_*718insTCTCTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		660		chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244489450	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0147 a0001c0003t0001g0147	1	206	0.0049	10	c.327 others(25): Show c.327-975_327-966dupTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244528785	C C	CCACACAC others(3): Show CCACACACACA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03831.hp1 NA18906.hp2 HG02074.hp1 HG03831.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0047 a0001c0001t0002g0201 a0001c0001t0004g0163 a0001c0001t0002g0047 a0001c0001t0002g0201 a0001c0001t0004g0163	3	206	0.0146	10	c.536 others(29): Show c.536+10119_536+10128dupACACACACAC	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(3): Show CCACGCACGCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp2 HG02809.hp2 others(2): Show HG01884.hp1 HG02630.hp2 HG02809.hp2 HG03041.hp1 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0020 a0001c0003 a0001c0020	a0001c0003t0002 a0001c0003t0004 a0001c0020t0004 a0001c0003t0002 a0001c0003t0004 a0001c0020t0004	a0001c0003t0002g0018 a0001c0003t0002g0026 a0001c0003t0002g0027 others(2): Show a0001c0003t0002g0018 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0004g0172 a0001c0020t0004g0149	5	206	0.0243	10	c.536 others(29): Show c.536+10090_536+10091insGCACGCGCAC	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244528787	A A	ACACACGC others(3): Show ACACACGCACG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03540.hp1 HG02886.hp2 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0084 a0001c0006t0002g0085 a0001c0006t0002g0084 a0001c0006t0002g0085	2	206	0.0097	10	c.536 others(29): Show c.536+10094_536+10095insGCACGCACAC	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(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01928.hp2 HG01978.hp2 others(6): Show HG00408.hp1 HG01928.hp2 HG01978.hp2 HG02451.hp1 HG02970.hp2 HG03209.hp2 NA18975.hp2 NA19056.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0066 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0066 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0189 a0001c0002t0003g0158 a0001c0002t0004g0184 a0001c0002t0004g0187	9	206	0.0437	10	c.102 others(27): Show c.1029+822_1029+831dupCACACACACA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244553622	C C	CATATATA others(3): Show CATATATACAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02615.hp1 NA18522.hp1 HG01496.hp1 HG02615.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003	a0001c0003t0001g0147 a0001c0003t0002g0006 a0001c0003t0003g0190 a0001c0003t0001g0147 a0001c0003t0002g0006 a0001c0003t0003g0190	3	206	0.0146	10	c.102 others(27): Show c.1029+809_1029+810insTATATACATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244553624	C C	CATATATA others(3): Show CATATATACAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp1 HG02257.hp1 others(13): Show HG01261.hp2 HG01884.hp1 HG02257.hp1 HG02257.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG06807.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0020 a0002c0021 others(1): Show a0001c0003 a0001c0020 a0002c0021 a0004c0023	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(3): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0020t0004 a0002c0021t0001 a0004c0023t0001	a0001c0003t0001g0031 a0001c0003t0001g0045 a0001c0003t0001g0087 others(13): Show a0001c0003t0001g0031 a0001c0003t0001g0045 a0001c0003t0001g0087 a0001c0003t0001g0089 a0001c0003t0001g0197 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0002g0018 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0030 a0001c0003t0002g0083 a0001c0003t0004g0172 a0001c0020t0004g0149 a0002c0021t0001g0065 a0004c0023t0001g0077	16	206	0.0777	10	c.102 others(27): Show c.1029+811_1029+812insTATATACATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244553648	C C	CACACATA others(3): Show CACACATACAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	206	0.0049	10	c.102 others(27): Show c.1029+835_1029+836insCACATACATA	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(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00735.hp1 others(16): Show HG00323.hp2 HG00408.hp2 HG00735.hp1 HG01516.hp1 HG01516.hp2 HG01978.hp2 HG02015.hp1 HG02083.hp2 HG02523.hp2 HG06807.hp2 NA18612.hp1 NA18957.hp1 NA19003.hp1 NA19007.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19089.hp2 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0003c0005t0001 a0005c0008t0003	a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0056 others(16): Show a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0117 a0001c0001t0002g0061 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0004g0157 a0001c0001t0004g0167 a0001c0002t0001g0046 a0001c0002t0001g0052 a0001c0002t0002g0004 a0001c0002t0004g0187 a0001c0002t0004g0191 a0003c0005t0001g0036 a0005c0008t0003g0195	19	206	0.0922	10	c.103 others(29): Show c.1030-3094_1030-3085dupTATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244573412	A A	AAAAACAA others(3): Show AAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02258.hp2 others(10): Show HG01891.hp2 HG02055.hp2 HG02258.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02922.hp1 HG03453.hp1 NA18906.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0001c0003 a0001c0007 others(2): Show a0001c0002 a0001c0003 a0001c0007 a0001c0016 a0011c0017	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0007t0001 a0001c0016t0001 a0011c0017t0001	a0001c0002t0001g0001 a0001c0002t0001g0029 a0001c0002t0002g0007 others(10): Show a0001c0002t0001g0001 a0001c0002t0001g0029 a0001c0002t0002g0007 a0001c0002t0002g0011 a0001c0002t0002g0042 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0140 a0001c0002t0004g0173 a0001c0003t0001g0147 a0001c0007t0001g0133 a0001c0016t0001g0075 a0011c0017t0001g0145	13	206	0.0631	10	c.195 others(27): Show c.1950+665_1950+674dupCAAAACAAAA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244578823	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(16): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00558.hp2 HG00621.hp1 HG00735.hp2 HG00741.hp2 HG01928.hp1 HG02273.hp2 HG02451.hp1 HG02809.hp1 HG02970.hp2 HG03209.hp2 HG03491.hp2 HG03492.hp2 HG03927.hp1 NA19081.hp1 NA19240.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0009 a0005c0008 a0001c0001 a0004c0009 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0004c0009t0002 a0005c0008t0003	a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0040 others(16): Show a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0066 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0002g0024 a0001c0001t0002g0048 a0001c0001t0003g0152 a0001c0001t0003g0156 a0001c0001t0003g0178 a0001c0001t0003g0189 a0001c0001t0004g0171 a0004c0009t0002g0076 a0005c0008t0003g0194	19	206	0.0922	10	c.195 others(29): Show c.1951-2961_1951-2952dupTATATATATA	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(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	206	0.0049	10	c.264 others(29): Show c.2648+3650_2648+3659dupATATATATAT	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(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19062.hp2 NA18982.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0112 a0001c0001t0002g0115	2	206	0.0097	10	c.264 others(29): Show c.2648+7741_2648+7742insTTTTTTTTTT	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(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	206	0.0049	10	c.264 others(29): Show c.2648+7743_2648+7744insTTTTTTTTTT	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(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18966.hp1 NA18975.hp1 HG02922.hp2 NA18966.hp1 NA18975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0021 a0001c0001 a0002c0021	a0001c0001t0002 a0002c0021t0001 a0001c0001t0002 a0002c0021t0001	a0001c0001t0002g0060 a0001c0001t0002g0108 a0002c0021t0001g0065 a0001c0001t0002g0060 a0001c0001t0002g0108 a0002c0021t0001g0065	3	206	0.0146	10	c.264 others(29): Show c.2648+7745_2648+7746insTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38344856	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG03654.hp2 others(1): Show HG00733.hp1 HG01106.hp2 HG03654.hp2 NA20300.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0006 a0001c0007t0001g0197 a0001c0007t0001g0198 a0001c0007t0001g0006 a0001c0007t0001g0197 a0001c0007t0001g0198	4	376	0.0106	10	c.669 others(25): Show c.669+506_669+515dupCACACACACA	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERG_chr19_38330830_38375943	38344882	C C	CACACATA others(3): Show CACACATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03453.hp1 HG02257.hp1 HG03453.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0100 a0003c0004t0001g0101 a0003c0004t0001g0100 a0003c0004t0001g0101	2	376	0.0053	10	c.669 others(25): Show c.669+515_669+516insCACATATATA	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAT_chr11_34433934_34477060	34444803	T T	TATGTATT others(3): Show TATGTATTAGC	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0268	1	424	0.0024	10	c.67- others(25): Show c.67-4388_67-4379dupATGTATTAGC	CAT	ENSG00000121691.7	transcript	ENST00000241052.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAT_chr11_34433934_34477060	34445495	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	424	0.0024	10	c.67- others(25): Show c.67-3679_67-3670dupAAAAAAAAAA	CAT	ENSG00000121691.7	transcript	ENST00000241052.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAV1_chr7_116520036_116566179	116523187	A A	AAGAAAGG others(3): Show AAGAAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG06807.hp1 HG01515.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0301 a0001c0001t0005g0303 a0001c0001t0005g0301 a0001c0001t0005g0303	2	342	0.0059	10	c.-18 others(21): Show c.-1876_-1875insAGAAAGGAAG	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		1848		chr7	TogoVar
CAV1_chr7_116520036_116566179	116530208	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0019 a0001c0001t0012g0019	1	342	0.0029	10	c.195 others(27): Show c.195+3523_195+3532dupTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555518	A A	AAGAAAGA others(3): Show AAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02723.hp1 HG01257.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0036 a0001c0001t0001g0052	2	342	0.0059	10	c.196 others(27): Show c.196-3425_196-3424insAAGAAAGAGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116562887	A A	AAAGAGGA others(3): Show AAAGAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01168.hp2 others(47): Show HG00140.hp1 HG00642.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01993.hp2 HG02055.hp1 HG02074.hp1 HG02257.hp2 HG02258.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03834.hp1 HG04115.hp1 NA18906.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012	a0001c0001t0001g0036 a0001c0001t0004g0007 a0001c0001t0004g0027 others(44): Show a0001c0001t0001g0036 a0001c0001t0004g0007 a0001c0001t0004g0027 a0001c0001t0004g0064 a0001c0001t0004g0070 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0176 a0001c0001t0004g0186 a0001c0001t0004g0308 a0001c0001t0004g0311 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0329 a0001c0001t0005g0006 a0001c0001t0005g0011 a0001c0001t0005g0092 a0001c0001t0005g0099 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0321 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0008g0061 a0001c0001t0010g0306 a0001c0001t0010g0307 a0001c0001t0012g0019	50	342	0.1462	10	c.36 others(21): Show c.3600_*3601insAAGAGGAAGG	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		1709		chr7	TogoVar
CAV2_chr7_116494738_116513541	116498910	C C	CCACACAC others(3): Show CCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03130.hp1 HG03195.hp1 others(3): Show HG02258.hp1 HG03130.hp1 HG03195.hp1 HG03516.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0007g0006 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0007g0006	6	374	0.0160	10	c.-87 others(19): Show c.-872_-871insCACACACACA	CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding		827		chr7	TogoVar
CAV3_chr3_8728802_8751758	8746797	T T	TCACACAC others(3): Show TCACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0055 a0001c0003t0003g0055	2	476	0.0042	10	c.93 others(19): Show c.930_*931insCACACACACA	CAV3	ENSG00000182533.7	transcript	ENST00000343849.3	protein_coding		40		chr3	TogoVar

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