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
CASTOR2_chr7_74959705_75036528	74963074	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00639.hp2 HG01081.hp1 others(32): Show HG00438.hp2 HG00639.hp2 HG01081.hp1 HG01081.hp2 HG01261.hp1 HG01975.hp1 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp2 NA18960.hp1 NA18974.hp1 NA19002.hp2 NA19012.hp1 NA19056.hp1 NA19065.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0028 a0001c0001t0053 a0001c0001t0057 a0001c0001t0058 a0001c0001t0062 a0001c0001t0063 a0001c0001t0069 a0001c0001t0074 a0001c0001t0077 a0001c0001t0084 a0001c0001t0087 a0001c0001t0088	a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0096 others(32): Show a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0136 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0004g0223 a0001c0001t0005g0033 a0001c0001t0005g0038 a0001c0001t0010g0111 a0001c0001t0014g0167 a0001c0001t0017g0082 a0001c0001t0017g0166 a0001c0001t0019g0018 a0001c0001t0028g0189 a0001c0001t0053g0036 a0001c0001t0057g0015 a0001c0001t0058g0080 a0001c0001t0062g0025 a0001c0001t0063g0013 a0001c0001t0069g0186 a0001c0001t0074g0030 a0001c0001t0077g0117 a0001c0001t0084g0012 a0001c0001t0087g0027 a0001c0001t0088g0029	35	228	0.1535	20	c.-19 others(31): Show c.-1912_-1911insAAAAAAAAAAAAAAAAAAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		1630		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026189	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0085 a0001c0002t0085	a0001c0002t0085g0076 a0001c0002t0085g0076	1	228	0.0044	20	c.15 others(31): Show c.1507_*1508insTTTTTTTTTTTTTTTTTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9	1508	INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75030983	G G	GAAGAAAA others(13): Show GAAGAAAAAAAATAAGAGAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0199 a0001c0001t0045g0199	1	228	0.0044	20	c.62 others(31): Show c.6284_*6285insAAGAAAAAAAATAAGAGAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9	6285		chr7	TogoVar
CAST_chr5_96657376_96779683	96662653	G G	GGCAGGTG others(13): Show GGCAGGTGGCAGCAGGTGGCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00621.hp1 others(115): Show HG00323.hp1 HG00423.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01934.hp1 HG02015.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18965.hp1 NA18969.hp2 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18984.hp2 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA18997.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19058.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0013	a0001c0001 a0001c0011 a0001c0017 others(12): Show a0001c0001 a0001c0011 a0001c0017 a0001c0018 a0001c0021 a0002c0003 a0002c0004 a0002c0006 a0003c0007 a0004c0008 a0005c0010 a0008c0014 a0009c0023 a0010c0016 a0013c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0011t0002 a0001c0017t0001 a0001c0018t0010 a0001c0021t0009 a0002c0003t0003 a0002c0004t0001 a0002c0004t0003 a0002c0004t0005 a0002c0006t0001 a0003c0007t0002 a0004c0008t0007 a0004c0008t0011 a0005c0010t0014 a0005c0010t0024 a0008c0014t0002 a0009c0023t0003 a0010c0016t0011 a0013c0019t0001	a0001c0001t0001g0024 a0001c0001t0001g0051 a0001c0001t0001g0063 others(113): Show a0001c0001t0001g0024 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0002g0003 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0010g0023 a0001c0001t0010g0028 a0001c0001t0010g0038 a0001c0001t0016g0004 a0001c0011t0002g0102 a0001c0011t0002g0103 a0001c0011t0002g0104 a0001c0017t0001g0025 a0001c0018t0010g0029 a0001c0021t0009g0035 a0002c0003t0003g0100 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0053 a0002c0004t0001g0101 a0002c0004t0001g0113 a0002c0004t0001g0115 a0002c0004t0001g0116 a0002c0004t0001g0117 a0002c0004t0001g0120 a0002c0004t0001g0126 a0002c0004t0003g0124 a0002c0004t0005g0027 a0002c0004t0005g0030 a0002c0004t0005g0031 a0002c0004t0005g0032 a0002c0004t0005g0033 a0002c0004t0005g0105 a0002c0006t0001g0040 a0002c0006t0001g0041 a0003c0007t0002g0050 a0003c0007t0002g0112 a0004c0008t0007g0061 a0004c0008t0011g0037 a0005c0010t0014g0043 a0005c0010t0014g0044 a0005c0010t0014g0131 a0005c0010t0024g0042 a0008c0014t0002g0110 a0008c0014t0002g0111 a0009c0023t0003g0039 a0010c0016t0011g0026 a0013c0019t0001g0114	118	358	0.3296	20	c.75+ others(33): Show c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC	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(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0001 a0004c0029t0001	a0004c0029t0001g0187 a0004c0029t0001g0187	1	358	0.0028	20	c.138 others(37): Show c.138+4759_138+4778dupAAAAAAAAAAAAAAAAAAAA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CASZ1_chr1_10631604_10801646	10700080	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01069.hp2 others(7): Show HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01884.hp2 HG02647.hp2 HG02922.hp2 HG03669.hp2 HG03834.hp2 NA18939.hp1 NA18952.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0022 a0001c0023 a0008c0033	a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 others(7): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0002t0028 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0022t0002 a0001c0023t0053 a0008c0033t0003	a0001c0001t0007g0221 a0001c0001t0008g0012 a0001c0001t0010g0152 others(7): Show a0001c0001t0007g0221 a0001c0001t0008g0012 a0001c0001t0010g0152 a0001c0002t0028g0011 a0001c0003t0001g0207 a0001c0003t0002g0057 a0001c0003t0005g0034 a0001c0022t0002g0063 a0001c0023t0053g0131 a0008c0033t0003g0020	10	236	0.0424	20	c.-24 others(37): Show c.-24+5392_-24+5411dupGTGTGTGTGTGTGTGTGTGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10700111	A A	ACACACAC others(13): Show ACACACACACACACACCCACC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	236	0.0042	20	c.-24 others(37): Show c.-24+5380_-24+5381insGGTGGGTGTGTGTGTGTGTG	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744731	C C	CACCACGA others(13): Show CACCACGAGCAGGCATGTCCT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01884.hp1 HG02055.hp1 others(6): Show HG01258.hp1 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG03130.hp1 HG03516.hp1 HG04228.hp1 NA19240.hp1	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0004c0005 a0011c0042	a0001c0001t0001 a0001c0002t0020 a0001c0003t0002 others(5): Show a0001c0001t0001 a0001c0002t0020 a0001c0003t0002 a0001c0003t0006 a0001c0004t0023 a0001c0012t0001 a0004c0005t0013 a0011c0042t0002	a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0002t0020g0008 others(6): Show a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0002t0020g0008 a0001c0003t0002g0050 a0001c0003t0006g0052 a0001c0004t0023g0086 a0001c0012t0001g0051 a0004c0005t0013g0045 a0011c0042t0002g0055	9	236	0.0381	20	c.-77 others(39): Show c.-77+15969_-77+15970insAGGACATGCCTGCTCGTGGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CATIP_chr2_218351857_218373094	218357259	G G	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG01433.hp2 others(10): Show HG00099.hp1 HG00609.hp1 HG01433.hp2 HG02055.hp1 HG02135.hp1 HG02723.hp2 HG03098.hp1 NA18973.hp1 NA18983.hp1 NA18990.hp2 NA18991.hp2 NA19089.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0023 a0001c0001t0001g0078 a0001c0001t0001g0080 others(9): Show a0001c0001t0001g0023 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0235 a0001c0002t0001g0079	13	366	0.0355	20	c.118 others(34): Show c.118+84_118+103dupCTCTCTCTCTCTCTCTCTCT	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(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	366	0.0027	20	c.376 others(37): Show c.376-1228_376-1209dupAAAAAAAAAAAAAAAAAAAA	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPER4_chr1_26185602_26207964	26206481	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	398	0.0025	20	c.39 others(31): Show c.3939_*3940insAAAGAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		3518		chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91586559	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03540.hp1 HG02886.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0009 a0001c0001t0001g0010	2	271	0.0074	20	c.313 others(37): Show c.3132+642_3132+643insTTCTCTCTCTCTCTCTCTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91586561	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	271	0.0037	20	c.313 others(37): Show c.3132+640_3132+641insTTCTCTCTCTCTCTCTCTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91586563	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	271	0.0037	20	c.313 others(37): Show c.3132+638_3132+639insTTCTCTCTCTCTCTCTCTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91606949	C C	CTAGTGAC others(13): Show CTAGTGACAGACATATCAAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00733.hp1 others(122): Show HG00140.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03927.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18955.hp1 NA18957.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18982.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19076.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004 a0004c0010 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0005t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0004c0010t0001 a0006c0008t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 others(122): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0264 a0001c0001t0002g0008 a0001c0001t0002g0021 a0001c0001t0002g0064 a0001c0001t0002g0098 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0233 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0002t0001g0154 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0005t0002g0211 a0001c0005t0002g0213 a0002c0003t0001g0037 a0002c0003t0001g0050 a0002c0003t0001g0061 a0002c0003t0001g0138 a0002c0003t0001g0141 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0002g0137 a0002c0003t0003g0267 a0002c0003t0003g0268 a0002c0003t0003g0270 a0002c0003t0003g0271 a0003c0004t0001g0025 a0003c0004t0001g0113 a0003c0004t0001g0114 a0003c0004t0001g0194 a0003c0004t0001g0196 a0003c0004t0001g0256 a0003c0004t0002g0159 a0003c0004t0004g0001 a0003c0004t0004g0002 a0004c0010t0001g0125 a0006c0008t0001g0047	125	271	0.4613	20	c.270 others(39): Show c.2709+1344_2709+1345insCCTTGATATGTCTGTCACTA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	22/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91612012	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01978.hp1 HG02004.hp1 others(2): Show HG01884.hp1 HG01978.hp1 HG02004.hp1 NA18961.hp1 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0009 a0001c0002 a0005c0009	a0001c0002t0002 a0005c0009t0002 a0001c0002t0002 a0005c0009t0002	a0001c0002t0002g0079 a0001c0002t0002g0110 a0001c0002t0002g0162 others(2): Show a0001c0002t0002g0079 a0001c0002t0002g0110 a0001c0002t0002g0162 a0001c0002t0002g0166 a0005c0009t0002g0127	5	271	0.0185	20	c.240 others(39): Show c.2401-1355_2401-1336dupGAAAGAAAGAAAGAAAGAAA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	20/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91673231	C C	CGACCCTT others(13): Show CGACCCTTGGGCAAGAAACTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG00738.hp2 others(87): Show HG00140.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18965.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18997.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19056.hp2 NA19057.hp2 NA19064.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0005c0009 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0005c0009t0002 a0006c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0016 others(87): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0264 a0001c0001t0002g0021 a0001c0001t0002g0064 a0001c0001t0002g0098 a0001c0001t0002g0117 a0001c0001t0002g0179 a0001c0002t0001g0014 a0001c0002t0001g0024 a0001c0002t0001g0142 a0001c0002t0002g0017 a0001c0002t0002g0115 a0001c0002t0002g0122 a0001c0002t0002g0130 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0193 a0001c0002t0002g0238 a0001c0002t0002g0240 a0001c0002t0002g0263 a0001c0002t0002g0265 a0002c0003t0001g0037 a0002c0003t0001g0039 a0002c0003t0001g0061 a0002c0003t0001g0143 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0002g0137 a0002c0003t0002g0139 a0002c0003t0003g0267 a0002c0003t0003g0268 a0002c0003t0003g0269 a0002c0003t0003g0270 a0002c0003t0003g0271 a0005c0009t0002g0127 a0006c0008t0001g0047	90	271	0.3321	20	c.979 others(35): Show c.979-216_979-215insAAGTTTCTTGCCCAAGGGTC	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	12/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91736501	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(34): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02735.hp1 HG02809.hp2 HG02970.hp1 HG02970.hp2 HG03225.hp2 HG03540.hp2 HG03688.hp1 HG06807.hp2 NA18612.hp1 NA18949.hp2 NA18957.hp1 NA18965.hp1 NA18975.hp2 NA18990.hp2 NA19000.hp1 NA19003.hp1 NA19012.hp1 NA19088.hp2 NA19240.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0003c0006 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0001 a0003c0004t0001 a0003c0006t0002 a0006c0008t0001	a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0041 others(34): Show a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0002g0021 a0001c0001t0002g0040 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0117 a0001c0002t0002g0053 a0001c0002t0002g0067 a0001c0002t0002g0120 a0001c0002t0002g0130 a0001c0002t0002g0132 a0002c0003t0001g0039 a0002c0003t0001g0061 a0003c0004t0001g0113 a0003c0004t0001g0114 a0003c0006t0002g0131 a0006c0008t0001g0047	37	271	0.1365	20	c.-45 others(31): Show c.-4592_-4573dupCCTTCCTTCCTTCCTTCCTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding		4416		chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91736526	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGAAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG02109.hp1 others(10): Show HG00741.hp2 HG01081.hp1 HG02109.hp1 HG02451.hp2 HG02615.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG03239.hp2 HG03540.hp1 NA18522.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0015 others(10): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0153 a0001c0001t0002g0108 a0001c0002t0001g0014 a0001c0002t0002g0017 a0001c0002t0002g0122	13	271	0.0480	20	c.-45 others(31): Show c.-4598_-4597insGCCTTCCTTCCTTCCTTCCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding		4441		chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5716253	A A	AATATATA others(13): Show AATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	336	0.0030	20	c.-44 others(31): Show c.-4485_-4484insATATATATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4383		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5716259	C C	CATATATA others(13): Show CATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG02717.hp2 HG03195.hp1 others(3): Show HG01952.hp1 HG02717.hp2 HG03195.hp1 NA18974.hp1 NA19043.hp1 NA19066.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0004c0003	a0001c0001t0001 a0002c0002t0003 a0003c0004t0001 others(2): Show a0001c0001t0001 a0002c0002t0003 a0003c0004t0001 a0004c0003t0001 a0004c0003t0003	a0001c0001t0001g0229 a0002c0002t0003g0138 a0003c0004t0001g0149 others(3): Show a0001c0001t0001g0229 a0002c0002t0003g0138 a0003c0004t0001g0149 a0003c0004t0001g0222 a0004c0003t0001g0132 a0004c0003t0003g0053	6	336	0.0179	20	c.-44 others(31): Show c.-4479_-4478insATATATATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4377		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5730561	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19089.hp1 NA18944.hp2 NA19089.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0001 a0002c0002t0001 a0003c0004t0001	a0002c0002t0001g0187 a0003c0004t0001g0188 a0002c0002t0001g0187 a0003c0004t0001g0188	2	336	0.0060	20	c.276 others(35): Show c.276+635_276+636insATAAATAAATAAATAAATAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5733307	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp1 HG06807.hp1 HG02257.hp1 HG02970.hp1 HG06807.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0011 a0001c0001 a0010c0011	a0001c0001t0001 a0010c0011t0001 a0001c0001t0001 a0010c0011t0001	a0001c0001t0001g0001 a0010c0011t0001g0002 a0010c0011t0001g0003 a0001c0001t0001g0001 a0010c0011t0001g0002 a0010c0011t0001g0003	3	336	0.0089	20	c.277 others(35): Show c.277-540_277-521dupTTTCTTTCTTTCTTTCTTTC	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5739106	C C	CTGCCTGC others(13): Show CTGCCTGCCTCGGCCTCCCAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	336	0.0030	20	c.460 others(35): Show c.460-219_460-200dupTGCCTGCCTCGGCCTCCCAG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741785	C C	CGGGGGGG others(13): Show CGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03492.hp1 NA18966.hp2 HG02074.hp2 HG03492.hp1 NA18966.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0013c0031 a0001c0001 a0002c0002 a0013c0031	a0001c0001t0001 a0002c0002t0001 a0013c0031t0001 a0001c0001t0001 a0002c0002t0001 a0013c0031t0001	a0001c0001t0001g0084 a0002c0002t0001g0127 a0013c0031t0001g0036 a0001c0001t0001g0084 a0002c0002t0001g0127 a0013c0031t0001g0036	3	336	0.0089	20	c.573 others(37): Show c.573+2359_573+2360insGGGGGGGGGGGGGGGGGGGG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741794	G G	GGGTGGGG others(13): Show GGGTGGGGGGGGGTGGGGGGT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0032 a0008c0009t0001g0032	1	336	0.0030	20	c.573 others(37): Show c.573+2357_573+2358insTGGGGGGGGGTGGGGGGTGG	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(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0003 a0010c0011t0001g0003	1	336	0.0030	20	c.142 others(39): Show c.1428-1156_1428-1155insATATATATATATATTTTTTT	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(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	336	0.0030	20	c.142 others(39): Show c.1428-1156_1428-1155insATATATATATATTTTTTTTT	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(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0259 a0002c0002t0001g0259	1	336	0.0030	20	c.150 others(37): Show c.1506+572_1506+573insTTTTTTTTTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244528785	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	206	0.0049	20	c.536 others(39): Show c.536+10109_536+10128dupACACACACACACACACACAC	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244557532	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	206	0.0049	20	c.103 others(39): Show c.1030-3104_1030-3085dupTATATATATATATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621037	A A	AAAATATA others(13): Show AAAATATATATAAATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	206	0.0049	20	c.264 others(39): Show c.2648+3362_2648+3363insAATATATATAAATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244623058	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01516.hp1 HG01934.hp1 others(10): Show HG00323.hp1 HG01516.hp1 HG01934.hp1 HG02109.hp1 HG02148.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp1 NA18941.hp1 NA18989.hp2 NA19007.hp1 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0021 a0001c0001 a0001c0002 a0002c0021	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0002c0021t0001	a0001c0001t0001g0135 a0001c0001t0002g0025 a0001c0001t0002g0051 others(10): Show a0001c0001t0001g0135 a0001c0001t0002g0025 a0001c0001t0002g0051 a0001c0001t0002g0099 a0001c0001t0002g0116 a0001c0002t0001g0088 a0001c0002t0002g0039 a0001c0002t0002g0050 a0001c0002t0002g0062 a0001c0002t0002g0111 a0001c0002t0003g0204 a0001c0002t0004g0191 a0002c0021t0001g0065	13	206	0.0631	20	c.264 others(39): Show c.2648+5384_2648+5403dupATTTATTTATTTATTTATTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	206	0.0049	20	c.264 others(39): Show c.2648+7747_2648+7748insATATATATTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(13): Show ATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	206	0.0049	20	c.264 others(39): Show c.2648+7747_2648+7748insATATATTTTTTTTTTTTTTT	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(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19007.hp2 HG03209.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0066 a0001c0001t0003g0177 a0001c0001t0001g0066 a0001c0001t0003g0177	2	206	0.0097	20	c.264 others(39): Show c.2648+7761_2648+7762insTTTTTTTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38342216	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01346.hp2 HG01934.hp2 others(6): Show HG00544.hp2 HG01346.hp2 HG01934.hp2 HG02004.hp2 HG02257.hp1 NA18968.hp1 NA18992.hp1 NA19043.hp1 NA19088.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0101 a0003c0004t0001g0105 a0003c0004t0001g0106 others(6): Show a0003c0004t0001g0101 a0003c0004t0001g0105 a0003c0004t0001g0106 a0003c0004t0001g0107 a0003c0004t0001g0122 a0003c0004t0001g0123 a0003c0004t0001g0124 a0003c0004t0001g0125 a0003c0004t0001g0126	9	376	0.0239	20	c.325 others(37): Show c.325-1351_325-1332dupAAATAAATAAATAAATAAAT	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAV1_chr7_116520036_116566179	116523234	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0308 a0001c0001t0004g0308	1	342	0.0029	20	c.-18 others(31): Show c.-1829_-1828insAAGGAAGGAAGGAAGGAAGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		1801		chr7	TogoVar
CAV1_chr7_116520036_116566179	116534393	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	342	0.0029	20	c.195 others(37): Show c.195+7705_195+7706insTTTTTTTTTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	342	0.0029	20	c.195 others(37): Show c.195+7707_195+7708insATATATATATATATTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19003.hp1 HG01934.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0160 a0001c0001t0016g0230 a0001c0001t0001g0160 a0001c0001t0016g0230	2	342	0.0059	20	c.195 others(37): Show c.195+7707_195+7708insATATATATTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(13): Show ATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01934.hp2 HG01981.hp1 others(1): Show HG01192.hp2 HG01934.hp2 HG01981.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0117 a0001c0001t0001g0164 a0001c0001t0002g0239 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0164 a0001c0001t0002g0239 a0001c0001t0002g0262	4	342	0.0117	20	c.195 others(37): Show c.195+7707_195+7708insATATATTTTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116546697	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp2 others(21): Show HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG01928.hp2 HG02004.hp1 HG02040.hp1 HG02155.hp2 HG02258.hp2 HG03098.hp2 HG03491.hp1 NA18940.hp2 NA18947.hp2 NA18948.hp1 NA18957.hp2 NA18962.hp2 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA19003.hp2 NA19055.hp2 NA19059.hp1 NA19064.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0006 a0001c0003t0003 a0001c0001t0003 a0001c0001t0006 a0001c0003t0003	a0001c0001t0003g0113 a0001c0001t0003g0127 a0001c0001t0003g0128 others(21): Show a0001c0001t0003g0113 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0140 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0168 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0180 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0284 a0001c0001t0003g0293 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0006g0015 a0001c0001t0006g0112 a0001c0003t0003g0178	24	342	0.0702	20	c.196 others(39): Show c.196-12232_196-12231insAAAAAAAAAAAAAAAAAAAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555448	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01255.hp1 HG02074.hp1 others(7): Show HG01081.hp2 HG01255.hp1 HG02074.hp1 HG02109.hp1 HG02602.hp1 HG02723.hp2 HG02809.hp1 HG03209.hp2 HG03239.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0002t0009	a0001c0001t0002g0276 a0001c0001t0004g0074 a0001c0001t0004g0075 others(7): Show a0001c0001t0002g0276 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0088 a0001c0001t0004g0311 a0001c0001t0004g0318 a0001c0001t0009g0062 a0001c0002t0009g0261	10	342	0.0292	20	c.196 others(37): Show c.196-3488_196-3469dupAGGAAGGAAGGAAGGAAGGA	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(13): Show AAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp1 HG03540.hp1 HG01069.hp1 HG01074.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0007g0002 a0001c0002t0001g0265 a0001c0001t0007g0002 a0001c0002t0001g0265	3	342	0.0088	20	c.196 others(37): Show c.196-3425_196-3424insAAGAAAGAAAGAAAGAGAGA	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(13): Show AAGAAAGAAAGAAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	342	0.0029	20	c.196 others(37): Show c.196-3425_196-3424insAAGAAAGAAAGAGAGAGAGA	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(13): Show AAGAAAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	342	0.0029	20	c.196 others(37): Show c.196-3425_196-3424insAAGAGAGAGAGAGAGAGAGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555542	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	342	0.0029	20	c.196 others(37): Show c.196-3401_196-3400insGAGAGAGAAAGAAAGAAAGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116562940	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 NA20752.hp2 HG03927.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0326 a0001c0001t0001g0085 a0001c0001t0001g0326	2	342	0.0059	20	c.36 others(31): Show c.3653_*3654insAGGAAGGAAGGAAGGAAGGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		1762		chr7	TogoVar
CAV2_chr7_116494738_116513541	116498910	C C	CCACACAC others(13): Show CCACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	1	374	0.0027	20	c.-87 others(29): Show c.-872_-871insCACACACACACACACACACA	CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding		827		chr7	TogoVar

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