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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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
CAPRIN1_chr11_34046731_34107610	34079905	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG01884.hp1 others(23): Show HG00738.hp1 HG01243.hp1 HG01884.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02615.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03654.hp1 HG03669.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 others(23): Show a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0058 a0001c0001t0003g0008 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029	26	246	0.1057	-22	c.826 others(37): Show c.826+154_826+175delTTTTTTTTTTTTTTTTTTTTTT	CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPRIN1_chr11_34046731_34107610	34103733	CACAAAAA others(15): Show CACAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG02109.hp1 HG02895.hp1 others(12): Show HG00738.hp1 HG02109.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03654.hp1 HG03669.hp2 NA18522.hp1 NA19030.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 others(12): Show a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0058	15	246	0.0610	-22	c.43 others(33): Show c.4367_*4388delACAAAAAAAAAAAAAAAAAAAA	CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding		1124		chr11	TogoVar
CAPRIN1_chr11_34046731_34107610	34103735	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	246	0.0041	-22	c.43 others(33): Show c.4369_*4390delAAAAAAAAAAAAAAAAAAAAAA	CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding		1126		chr11	TogoVar
CAPS2_chr12_75270979_75335324	75291591	ATATATAT others(15): Show ATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	370	0.0027	-22	c.112 others(39): Show c.1126+131_1126+152delAATATATATATATATATATATA	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	13/16			chr12	TogoVar
CAPS2_chr12_75270979_75335324	75311702	AAAAAAAA others(15): Show AAAAAAAAAACAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	370	0.0027	-22	c.545 others(39): Show c.545+1124_545+1145delGTTTTTTTTTTTGTTTTTTTTT	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	7/16			chr12	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	354	0.0028	-22	c.40- others(37): Show c.40-7414_40-7393delTTTTTTTTTTTTTTTTTTTTTT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890549	TATATATA others(15): Show TATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG04184.hp1 NA18941.hp1 others(8): Show HG02135.hp1 HG04184.hp1 NA18941.hp1 NA18945.hp2 NA18950.hp2 NA18951.hp2 NA18965.hp1 NA18972.hp1 NA19064.hp1 NA19077.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0207 others(8): Show a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0291 a0001c0001t0012g0233 a0001c0001t0012g0285	11	354	0.0311	-22	c.103 others(39): Show c.103+2379_103+2400delCACATATATATATATATATATA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19471865	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(68): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00621.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02258.hp2 HG02451.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03704.hp2 HG03942.hp2 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18951.hp1 NA18955.hp1 NA18959.hp2 NA18971.hp2 NA18981.hp1 NA18982.hp1 NA18999.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 others(68): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0184 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0002g0036 a0001c0001t0002g0071 a0001c0001t0004g0058 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0008g0017 a0001c0001t0008g0050 a0001c0001t0009g0033 a0001c0001t0009g0061 a0001c0001t0014g0283 a0001c0002t0001g0063 a0002c0004t0001g0062	71	364	0.1951	-22	c.3+1 others(37): Show c.3+13549_3+13570delTTTTTTTTTTTTTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	2933700	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00733.hp2 others(1): Show HG00280.hp2 HG00323.hp1 HG00733.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0001 a0001c0003t0001 a0001c0003t0012 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0012 a0001c0005t0001	a0001c0002t0001g0018 a0001c0003t0001g0016 a0001c0003t0012g0261 others(1): Show a0001c0002t0001g0018 a0001c0003t0001g0016 a0001c0003t0012g0261 a0001c0005t0001g0251	4	322	0.0124	-22	c.151 others(39): Show c.1518+731_1518+752delAAGAAAGAAAGAAAGAAAGAAA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	10/24			chr7	TogoVar
CARD19_chr9_93091217_93118283	93113511	CCACACAC others(15): Show CCACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0041 a0001c0004t0002g0041	1	358	0.0028	-22	c.40 others(31): Show c.405_*426delCACACACACACACACACACACA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		229		chr9	TogoVar
CARF_chr2_202907275_202993263	202980616	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19240.hp2 HG02258.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0298 a0001c0001t0042g0299 a0001c0001t0042g0298 a0001c0001t0042g0299	2	334	0.0060	-22	c.155 others(39): Show c.1559-914_1559-893delTATATATATATATATATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARMIL1_chr6_25274374_25625530	25392038	ATGTGTGT others(15): Show ATGTGTGTGTATATGCATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0180 a0001c0002t0005g0180	1	186	0.0054	-22	c.139 others(41): Show c.139-28066_139-28045delATATGCATGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25392053	CATGTGTG others(15): Show CATGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02486.hp1 HG03195.hp2 others(7): Show HG01255.hp2 HG02486.hp1 HG03195.hp2 HG03704.hp2 NA18943.hp2 NA18983.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0002c0007 a0003c0017	a0001c0001t0001 a0001c0001t0019 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0019 a0001c0002t0001 a0001c0006t0002 a0001c0008t0001 a0002c0007t0003 a0003c0017t0006	a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0019g0014 others(7): Show a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0019g0014 a0001c0002t0001g0105 a0001c0006t0002g0074 a0001c0006t0002g0099 a0001c0006t0002g0117 a0001c0008t0001g0100 a0002c0007t0003g0006 a0003c0017t0006g0103	10	186	0.0538	-22	c.139 others(41): Show c.139-28060_139-28039delATGTGTGTGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25392054	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03491.hp1 HG03669.hp1 others(1): Show HG02083.hp1 HG03491.hp1 HG03669.hp1 NA18993.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0022 others(1): Show a0001c0001 a0001c0004 a0001c0022 a0004c0011	a0001c0001t0007 a0001c0004t0004 a0001c0022t0002 others(1): Show a0001c0001t0007 a0001c0004t0004 a0001c0022t0002 a0004c0011t0006	a0001c0001t0007g0143 a0001c0004t0004g0040 a0001c0022t0002g0108 others(1): Show a0001c0001t0007g0143 a0001c0004t0004g0040 a0001c0022t0002g0108 a0004c0011t0006g0044	4	186	0.0215	-22	c.139 others(41): Show c.139-28036_139-28015delGTGTGTGTGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASC3_chr17_40135537_40177171	40140373	AACACACA others(15): Show AACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0110 a0001c0001t0009g0110	1	266	0.0038	-22	c.-17 others(31): Show c.-175_-154delACACACACACACACACACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		163		chr17	TogoVar
CASK_chrX_41509934_41928554	41829696	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18940.hp1 NA18948.hp1 others(5): Show HG01358.hp1 NA18940.hp1 NA18948.hp1 NA18952.hp1 NA18959.hp1 NA18971.hp1 NA18982.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0083 others(5): Show a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0152 a0001c0001t0009g0080	8	164	0.0488	-22	c.172 others(41): Show c.172+23397_172+23418delATATATATATATATATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASP1_chr11_105020508_105040144	105027338	CATAAAAG others(15): Show CATAAAAGATTAATCGAAATTAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp2 HG01106.hp2 others(27): Show HG01070.hp1 HG01081.hp2 HG01106.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG02055.hp2 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03831.hp2 NA18522.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 others(4): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0004t0004	a0001c0001t0007g0010 a0001c0001t0007g0035 a0001c0001t0008g0017 others(11): Show a0001c0001t0007g0010 a0001c0001t0007g0035 a0001c0001t0008g0017 a0001c0001t0008g0034 a0001c0001t0008g0036 a0001c0001t0009g0031 a0001c0001t0010g0032 a0001c0001t0011g0033 a0001c0001t0016g0030 a0001c0004t0004g0008 a0001c0004t0004g0013 a0001c0004t0004g0025 a0001c0004t0004g0039 a0001c0004t0004g0067	30	398	0.0754	-22	c.100 others(39): Show c.1007-409_1007-388delTTAATTTCGATTAATCTTTTAT	CASP1	ENSG00000137752.25	transcript	ENST00000533400.6	protein_coding	7/8			chr11	TogoVar
CASP5_chr11_104989243_105028168	105027338	CATAAAAG others(15): Show CATAAAAGATTAATCGAAATTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01081.hp2 HG01106.hp1 others(27): Show HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG02055.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03831.hp1 NA18522.hp1 NA21309.hp1 NA21309.hp2	a0005 a0006 a0008 others(4): Show a0005 a0006 a0008 a0009 a0021 a0022 a0023	a0005c0006 a0006c0008 a0006c0018 others(5): Show a0005c0006 a0006c0008 a0006c0018 a0008c0007 a0009c0009 a0021c0028 a0022c0019 a0023c0020	a0005c0006t0001 a0006c0008t0001 a0006c0018t0001 others(5): Show a0005c0006t0001 a0006c0008t0001 a0006c0018t0001 a0008c0007t0001 a0009c0009t0001 a0021c0028t0001 a0022c0019t0001 a0023c0020t0001	a0005c0006t0001g0029 a0005c0006t0001g0041 a0005c0006t0001g0311 others(22): Show a0005c0006t0001g0029 a0005c0006t0001g0041 a0005c0006t0001g0311 a0005c0006t0001g0312 a0005c0006t0001g0313 a0005c0006t0001g0316 a0006c0008t0001g0044 a0006c0008t0001g0227 a0006c0008t0001g0322 a0006c0008t0001g0323 a0006c0008t0001g0324 a0006c0018t0001g0319 a0008c0007t0001g0043 a0008c0007t0001g0317 a0008c0007t0001g0320 a0008c0007t0001g0321 a0008c0007t0001g0325 a0009c0009t0001g0042 a0009c0009t0001g0081 a0009c0009t0001g0228 a0009c0009t0001g0229 a0009c0009t0001g0230 a0021c0028t0001g0086 a0022c0019t0001g0326 a0023c0020t0001g0318	30	396	0.0758	-22	c.-42 others(33): Show c.-4224_-4203delTTAATTTCGATTAATCTTTTAT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding		4171		chr11	TogoVar
CASP6_chr4_109683628_109708445	109706129	TTTTATAT others(15): Show TTTTATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG02486.hp2 others(15): Show HG00639.hp2 HG01074.hp1 HG02486.hp2 HG02622.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02970.hp1 HG03098.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG04199.hp1 NA18982.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0003g0003 others(7): Show a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0033 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0004g0067	18	416	0.0433	-22	c.-27 others(33): Show c.-2756_-2735delTATATATATATATATATATAAA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2685		chr4	TogoVar
CAST_chr5_96657376_96779683	96752550	ATAACCTC others(15): Show ATAACCTCAGGGATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01361.hp1 HG02572.hp1 others(6): Show HG01123.hp2 HG01361.hp1 HG02572.hp1 HG02723.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03453.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0018 a0005c0010 a0001c0001 a0001c0018 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0018t0010 a0005c0010t0014 a0005c0010t0024	a0001c0001t0001g0109 a0001c0001t0003g0257 a0001c0001t0010g0023 others(6): Show a0001c0001t0001g0109 a0001c0001t0003g0257 a0001c0001t0010g0023 a0001c0001t0010g0028 a0001c0001t0010g0038 a0001c0018t0010g0029 a0005c0010t0014g0043 a0005c0010t0014g0044 a0005c0010t0024g0042	9	358	0.0251	-22	c.152 others(41): Show c.1525-1508_1525-1487delAACCTCAGGGATTTTTTTTTTT	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	20/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CATSPERB_chr14_91575698_91737086	91592809	AAGACTAT others(15): Show AAGACTATGGTGAAAATGTCTCC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp1 HG02818.hp2 others(6): Show HG02559.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03130.hp2 HG03540.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0003c0004t0001 a0001c0001t0001 a0001c0001t0004 a0003c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0126 a0001c0001t0004g0003 a0001c0001t0004g0004 a0003c0004t0001g0025	9	271	0.0332	-22	c.271 others(39): Show c.2710-829_2710-808delGGAGACATTTTCACCATAGTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	22/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91707575	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	271	0.0037	-22	c.466 others(37): Show c.466+544_466+565delAAAAAAAAAAAAAAAAAAAAAA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	6/26			chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5716253	AATATACA others(15): Show AATATACATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA19089.hp1 NA18999.hp1 NA19089.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0044 a0002c0002 a0004c0044	a0002c0002t0001 a0004c0044t0001 a0002c0002t0001 a0004c0044t0001	a0002c0002t0001g0187 a0004c0044t0001g0211 a0002c0002t0001g0187 a0004c0044t0001g0211	2	336	0.0060	-22	c.-44 others(33): Show c.-4484_-4463delATATACATATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4383		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5716259	CATATATA others(15): Show CATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01358.hp2 others(3): Show HG00621.hp1 HG00735.hp2 HG01358.hp2 HG02135.hp1 NA18963.hp1 NA19065.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0003 a0001c0001 a0002c0002 a0004c0003	a0001c0001t0001 a0002c0002t0001 a0004c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0003t0001 a0004c0003t0003	a0001c0001t0001g0111 a0002c0002t0001g0103 a0002c0002t0001g0298 others(3): Show a0001c0001t0001g0111 a0002c0002t0001g0103 a0002c0002t0001g0298 a0004c0003t0001g0282 a0004c0003t0003g0047 a0004c0003t0003g0071	6	336	0.0179	-22	c.-44 others(33): Show c.-4478_-4457delATATATATATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4377		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5751197	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01169.hp2 HG01993.hp2 others(14): Show HG00735.hp1 HG01169.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02129.hp1 HG02129.hp2 HG02451.hp2 HG03239.hp2 HG03927.hp2 HG04184.hp1 HG04228.hp2 NA19002.hp1 NA19077.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0027 a0031	a0001c0001 a0002c0002 a0003c0004 others(5): Show a0001c0001 a0002c0002 a0003c0004 a0003c0005 a0004c0003 a0007c0010 a0027c0036 a0031c0028	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 others(5): Show a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0003c0005t0001 a0004c0003t0001 a0007c0010t0001 a0027c0036t0001 a0031c0028t0001	a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0137 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0137 a0002c0002t0001g0176 a0002c0002t0001g0273 a0002c0002t0001g0279 a0003c0004t0001g0096 a0003c0005t0001g0214 a0003c0005t0001g0239 a0004c0003t0001g0087 a0004c0003t0001g0168 a0004c0003t0001g0242 a0004c0003t0001g0272 a0004c0003t0001g0319 a0007c0010t0001g0026 a0027c0036t0001g0297 a0031c0028t0001g0130	17	336	0.0506	-22	c.988 others(37): Show c.988-426_988-405delAAAAAAAAAAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244557532	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	206	0.0049	-22	c.103 others(41): Show c.1030-3106_1030-3085delTATATATATATATATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244582910	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19082.hp2 NA19007.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0053 a0001c0001t0002g0116 a0001c0001t0001g0053 a0001c0001t0002g0116	2	206	0.0097	-22	c.201 others(39): Show c.2010-908_2010-887delTATATATATATATATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244642765	GTTTGGCC others(15): Show GTTTGGCCGGGACGGTGGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	206	0.0049	-22	c.26 others(33): Show c.2685_*2706delTTTGGCCGGGACGGTGGGAGGA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding		2262		chr1	TogoVar
CAV1_chr7_116520036_116566179	116543543	GGCTGTAT others(15): Show GGCTGTATCTGTTCTAAGATGGA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	342	0.0029	-22	c.196 others(41): Show c.196-15402_196-15381delGCTGTATCTGTTCTAAGATGGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2			chr7	TogoVar
CAVIN1_chr17_42397449_42428256	42410892	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03130.hp2 HG01243.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0160 a0001c0001t0001g0052 a0001c0001t0001g0160	2	338	0.0059	-22	c.472 others(39): Show c.472-5526_472-5505delTTTTTTTTTTTTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42413558	CAAAAAGG others(15): Show CAAAAAGGGAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02717.hp1 others(1): Show HG01884.hp1 HG02280.hp2 HG02717.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0008 a0001c0001t0012g0203 a0001c0001t0012g0008 a0001c0001t0012g0203	4	338	0.0118	-22	c.472 others(39): Show c.472-8192_472-8171delTTTTTTTTTTTTTTCCCTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42414749	ACAAAGCA others(15): Show ACAAAGCAGCAGGTCCCAACCTC	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	338	0.0030	-22	c.471 others(39): Show c.471+7856_471+7877delGAGGTTGGGACCTGCTGCTTTG	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CBFA2T2_chr20_33485096_33655030	33529743	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp2 HG02109.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0040 a0001c0001t0037 a0001c0001t0040	a0001c0001t0037g0296 a0001c0001t0040g0295 a0001c0001t0037g0296 a0001c0001t0040g0295	2	298	0.0067	-22	c.34+ others(39): Show c.34+39460_34+39481delATATATATATATATATATATAT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33642108	TTTTTTTT others(15): Show TTTTTTTTTTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp1 HG02145.hp2 others(10): Show HG01261.hp2 HG01884.hp1 HG02145.hp2 HG02257.hp1 HG02572.hp2 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03453.hp1 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0025 others(1): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0025 a0001c0001t0030	a0001c0001t0007g0008 a0001c0001t0007g0010 a0001c0001t0007g0011 others(10): Show a0001c0001t0007g0008 a0001c0001t0007g0010 a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0007g0013 a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0001t0008g0004 a0001c0001t0008g0005 a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0025g0009 a0001c0001t0030g0001	13	298	0.0436	-22	c.148 others(41): Show c.1488+1579_1488+1600delTTTTTTTTGTGTGTGTGTGTGT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33643753	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp2 HG01074.hp2 others(10): Show HG00597.hp2 HG00639.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG02083.hp2 HG02109.hp1 HG02647.hp2 HG02970.hp2 HG03225.hp2 HG03710.hp1 NA18994.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0002t0002 a0001c0004t0006 a0001c0004t0044 a0001c0005t0002	a0001c0001t0003g0097 a0001c0001t0003g0134 a0001c0001t0003g0152 others(10): Show a0001c0001t0003g0097 a0001c0001t0003g0134 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0005g0078 a0001c0001t0005g0099 a0001c0001t0010g0150 a0001c0002t0002g0289 a0001c0004t0006g0140 a0001c0004t0044g0092 a0001c0005t0002g0186	13	298	0.0436	-22	c.148 others(39): Show c.1489-551_1489-530delTATATATATATATATATATATA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88932156	GCCCCTCA others(15): Show GCCCCTCACACGGCCCCTGCTTC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01261.hp2 HG01891.hp2 others(11): Show HG01081.hp2 HG01261.hp2 HG01891.hp2 HG02109.hp2 HG02258.hp1 HG02559.hp1 HG02572.hp1 HG02818.hp2 HG03209.hp1 HG03540.hp2 HG03579.hp2 NA18966.hp1 NA19043.hp1 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0005c0012	a0001c0001t0001 a0001c0001t0025 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0001t0025 a0001c0002t0003 a0001c0002t0035 a0001c0003t0001 a0001c0005t0012 a0001c0009t0007 a0005c0012t0001	a0001c0001t0001g0070 a0001c0001t0001g0118 a0001c0001t0001g0120 others(11): Show a0001c0001t0001g0070 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0186 a0001c0001t0001g0202 a0001c0001t0025g0099 a0001c0002t0003g0090 a0001c0002t0003g0168 a0001c0002t0035g0284 a0001c0003t0001g0252 a0001c0005t0012g0184 a0001c0009t0007g0100 a0005c0012t0001g0121	14	284	0.0493	-22	c.152 others(41): Show c.152-30522_152-30501delGAAGCAGGGGCCGTGTGAGGGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBLL1_chr7_107739142_107766667	107764446	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA19056.hp2 NA18992.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	2	432	0.0046	-22	c.52 others(33): Show c.5269_*5290delTGTGTGTGTGTGTGTGTGTGTG	CBLL1	ENSG00000105879.13	transcript	ENST00000440859.8	protein_coding		2780		chr7	TogoVar
CBLN2_chr18_72531681_72549342	72542909	CCACACAC others(15): Show CCACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	416	0.0024	-22	c.-16 others(39): Show c.-167+555_-167+576delTGTGTGTGTGTGTGTGTGTGTG	CBLN2	ENSG00000141668.10	transcript	ENST00000269503.9	protein_coding	2/4			chr18	TogoVar
CBS_chr21_43048191_43080835	43061319	GCTCACTG others(15): Show GCTCACTGCAACCTCCACCTCCC	G G	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	298	0.0034	-22	c.104 others(39): Show c.1040-795_1040-774delGGGAGGTGGAGGTTGCAGTGAG	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding	11/16			chr21	TogoVar
CBX1_chr17_48065059_48106478	48077432	TGTTTTTT others(15): Show TGTTTTTTTTTTTGTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01358.hp1 HG01891.hp2 others(36): Show HG00423.hp2 HG01358.hp1 HG01891.hp2 HG01981.hp1 HG02056.hp2 HG02074.hp2 HG02155.hp2 HG02683.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18975.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp1 NA18985.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19056.hp2 NA19080.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 others(36): Show a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0010	39	396	0.0985	-22	c.-37 others(37): Show c.-37-413_-37-392delCAAAAAAAACAAAAAAAAAAAC	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48080949	AAAATATA others(15): Show AAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA20905.hp2 HG02109.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0011 a0001c0001t0004g0341 a0001c0001t0002g0011 a0001c0001t0004g0341	2	396	0.0051	-22	c.-37 others(39): Show c.-37-3930_-37-3909delATATATATATATATATATATTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48080973	TATATATA others(15): Show TATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02698.hp2 HG00280.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0047 a0001c0001t0002g0049	2	396	0.0051	-22	c.-37 others(39): Show c.-37-3954_-37-3933delTTATATATATATATATATATAT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX3_chr7_26196745_26218607	26217320	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01167.hp1 HG01169.hp1 others(5): Show HG00741.hp2 HG01167.hp1 HG01169.hp1 HG02055.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014	a0001c0001t0006g0009 a0001c0001t0008g0009 a0001c0001t0014g0002 others(2): Show a0001c0001t0006g0009 a0001c0001t0008g0009 a0001c0001t0014g0002 a0001c0001t0014g0009 a0001c0001t0014g0132	8	410	0.0195	-22	c.51 others(33): Show c.5113_*5134delAAAAAAAAAAAAAAAAAAAAAA	CBX3	ENSG00000122565.19	transcript	ENST00000396386.7	protein_coding		3714		chr7	TogoVar
CC2D1A_chr19_13901201_13935879	13925954	ATATATAC others(15): Show ATATATACACGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	370	0.0027	-22	c.194 others(39): Show c.1941-556_1941-535delCACGTATATATATGTGTATATA	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CC2D1B_chr1_52345597_52371205	52355496	GCACACAG others(15): Show GCACACAGGGCAGGCACTGCAGC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0023 a0007c0012t0023	a0007c0012t0023g0052 a0007c0012t0023g0052	1	322	0.0031	-22	c.218 others(37): Show c.2188-69_2188-48delGCTGCAGTGCCTGCCCTGTGTG	CC2D1B	ENSG00000154222.15	transcript	ENST00000284376.8	protein_coding	20/24			chr1	TogoVar
CC2D2A_chr4_15464882_15606552	15470679	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	344	0.0029	-22	c.-19 others(37): Show c.-19+624_-19+645delCTCTCTCTCTATATATATATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15470681	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02647.hp1 HG00438.hp2 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0024 a0001c0004 a0001c0024	a0001c0004t0002 a0001c0024t0002 a0001c0004t0002 a0001c0024t0002	a0001c0004t0002g0097 a0001c0024t0002g0098 a0001c0004t0002g0097 a0001c0024t0002g0098	2	344	0.0058	-22	c.-19 others(37): Show c.-19+626_-19+647delCTCTCTCTATATATATATATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15470683	CTCTCTCT others(15): Show CTCTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG02027.hp2 others(1): Show HG00639.hp1 HG01109.hp1 HG02027.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0013 a0001c0001 a0001c0004 a0004c0013	a0001c0001t0001 a0001c0004t0002 a0004c0013t0003 a0001c0001t0001 a0001c0004t0002 a0004c0013t0003	a0001c0001t0001g0132 a0001c0004t0002g0133 a0004c0013t0003g0134 others(1): Show a0001c0001t0001g0132 a0001c0004t0002g0133 a0004c0013t0003g0134 a0004c0013t0003g0135	4	344	0.0116	-22	c.-19 others(37): Show c.-19+628_-19+649delCTCTCTATATATATATATATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15470685	CTCTCTAT others(15): Show CTCTCTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18977.hp1 NA19066.hp1 others(1): Show HG03710.hp1 NA18977.hp1 NA19066.hp1 NA19078.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0171 a0001c0004t0002g0172 a0001c0004t0002g0173 others(1): Show a0001c0004t0002g0171 a0001c0004t0002g0172 a0001c0004t0002g0173 a0001c0004t0002g0174	4	344	0.0116	-22	c.-19 others(37): Show c.-19+630_-19+651delCTCTATATATATATATATATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15470687	CTCTATAT others(15): Show CTCTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01123.hp2 others(3): Show HG00323.hp1 HG00741.hp1 HG01123.hp2 HG02738.hp1 HG04204.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 others(3): Show a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0004t0002g0206 a0001c0004t0002g0207 a0001c0004t0002g0208	6	344	0.0174	-22	c.-19 others(37): Show c.-19+632_-19+653delCTATATATATATATATATATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr4	TogoVar

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