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
CDKL4_chr2_39170646_39248970	39226436	T T	TTATATAT others(4): Show TTATATATATTA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02165.hp1 HG03834.hp1 others(7): Show HG01256.hp2 HG02165.hp1 HG03834.hp1 NA18948.hp2 NA18960.hp1 NA18974.hp2 NA18981.hp1 NA18985.hp2 NA18998.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0085 others(7): Show a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0206 a0001c0001t0005g0031	10	290	0.0345	11	c.169 others(26): Show c.169-487_169-477dupTAATATATATA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	2/9			chr2	TogoVar
CDKL5_chrX_18420608_18645196	18460165	T T	TTGAGACA others(4): Show TTGAGACAGGCG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0005g0075 a0001c0001t0005g0076	2	192	0.0104	11	c.-16 others(32): Show c.-163+34475_-163+34485dupACAGGCGTGAG	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKN1A_chr6_36673714_36692332	36681361	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	454	0.0022	11	c.-6+ others(26): Show c.-6+2565_-6+2566insCTTTCTTTCTT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681377	C C	CTTTTTCT others(4): Show CTTTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	454	0.0022	11	c.-6+ others(26): Show c.-6+2582_-6+2583insTTCTTTCTTTT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01071.hp2 others(1): Show HG00323.hp1 HG01069.hp1 HG01071.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	4	416	0.0096	11	c.151 others(26): Show c.151-378_151-368dupAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01071.hp2 others(1): Show HG00323.hp1 HG01069.hp1 HG01071.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0056 a0001c0001t0003g0061 a0001c0001t0003g0004 a0001c0001t0003g0056 a0001c0001t0003g0061	4	404	0.0099	11	c.194 others(26): Show c.194-378_194-368dupAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990651	A A	AGAGAGAG others(4): Show AGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	404	0.0025	11	c.193 others(28): Show c.193+3487_193+3488insCTCTCTCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10567751	C C	CCTCCAGG others(4): Show CCTCCAGGAAAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	410	0.0024	11	c.142 others(26): Show c.142-345_142-335dupATTTCCTGGAG	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding	1/1			chr19	TogoVar
CDKN2D_chr19_10561460_10573979	10570547	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02083.hp1 HG02148.hp1 others(9): Show HG00741.hp1 HG02083.hp1 HG02148.hp1 HG02523.hp1 HG02698.hp1 NA18995.hp1 NA19002.hp1 NA19007.hp1 NA19030.hp1 NA19070.hp2 NA19076.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0010 a0001c0001t0001g0001 a0001c0001t0003g0010	12	410	0.0293	11	c.-18 others(22): Show c.-1895_-1894insTTTTTTTTTTT	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		1569		chr19	TogoVar
CDO1_chr5_115799733_115821659	115804617	C C	CAACAAAA others(4): Show CAACAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02886.hp1 HG03225.hp2 others(1): Show HG02572.hp2 HG02886.hp1 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0006 a0001c0002t0002g0020 a0001c0002t0002g0033 others(1): Show a0001c0001t0003g0006 a0001c0002t0002g0020 a0001c0002t0002g0033 a0001c0002t0002g0102	4	372	0.0108	11	c.81 others(20): Show c.815_*816insTTTTTTTTGTT	CDO1	ENSG00000129596.5	transcript	ENST00000250535.5	protein_coding		115		chr5	TogoVar
CDO1_chr5_115799733_115821659	115808738	C C	CAAAACAA others(4): Show CAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02895.hp2 others(3): Show HG01884.hp2 HG02451.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0097 others(1): Show a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0097 a0001c0001t0002g0113	6	372	0.0161	11	c.404 others(28): Show c.404-2221_404-2220insTGTTTTGTTTT	CDO1	ENSG00000129596.5	transcript	ENST00000250535.5	protein_coding	3/4			chr5	TogoVar
CDON_chr11_125951821_126067866	125981970	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp2 HG02630.hp1 HG02896.hp2	a0002 a0009 a0002 a0009	a0002c0014 a0009c0016 a0002c0014 a0009c0016	a0002c0014t0027 a0009c0016t0104 a0002c0014t0027 a0009c0016t0104	a0002c0014t0027g0132 a0009c0016t0104g0319 a0002c0014t0027g0132 a0009c0016t0104g0319	2	334	0.0060	11	c.299 others(28): Show c.2996-652_2996-642dupAAAAAAAAAAA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	16/19			chr11	TogoVar
CDR2L_chr17_74982632_75010800	74989410	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG04204.hp2 HG03491.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0021 a0001c0002t0002 a0001c0002t0021	a0001c0002t0002g0136 a0001c0002t0021g0135 a0001c0002t0002g0136 a0001c0002t0021g0135	2	352	0.0057	11	c.79+ others(26): Show c.79+1288_79+1289insCACACACACAC	CDR2L	ENSG00000109089.7	transcript	ENST00000337231.5	protein_coding	1/4			chr17	TogoVar
CDRT4_chr17_15431015_15472621	15435748	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG03130.hp2 NA19043.hp2 HG02647.hp1 HG03130.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0252 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0001g0252 a0001c0001t0006g0047 a0001c0001t0006g0048	3	430	0.0070	11	c.20 others(22): Show c.2024_*2025insTTTTTTTTTTT	CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding		266		chr17	TogoVar
CDS1_chr4_84578127_84656334	84601172	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(190): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp2 NA19066.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19090.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0003c0006 others(2): Show a0001c0001 a0002c0002 a0003c0006 a0004c0003 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0002c0002t0006 a0003c0006t0001 a0004c0003t0001 a0006c0005t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(188): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0002g0013 a0001c0001t0002g0095 a0001c0001t0002g0138 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0355 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0057 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0214 a0001c0001t0003g0221 a0001c0001t0003g0365 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0058 a0001c0001t0005g0182 a0001c0001t0005g0183 a0001c0001t0005g0194 a0001c0001t0005g0201 a0001c0001t0005g0363 a0001c0001t0005g0364 a0001c0001t0007g0010 a0001c0001t0007g0011 a0001c0001t0008g0078 a0001c0001t0008g0092 a0001c0001t0008g0107 a0001c0001t0009g0007 a0001c0001t0009g0080 a0001c0001t0009g0081 a0001c0001t0009g0088 a0001c0001t0012g0009 a0001c0001t0013g0227 a0001c0001t0016g0181 a0001c0001t0016g0186 a0001c0001t0017g0099 a0001c0001t0017g0100 a0001c0001t0019g0164 a0001c0001t0020g0188 a0001c0001t0022g0063 a0001c0001t0027g0111 a0001c0001t0028g0362 a0001c0001t0029g0059 a0002c0002t0006g0372 a0003c0006t0001g0129 a0004c0003t0001g0130 a0006c0005t0001g0068	193	384	0.5026	11	c.118 others(28): Show c.118-3066_118-3056dupAAAAAAAAAAA	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS1_chr4_84578127_84656334	84601180	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0008 a0001c0001t0026g0008	1	384	0.0026	11	c.118 others(28): Show c.118-3056_118-3055insAAAGAAAAAAA	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS2_chr20_5122008_5202887	5145822	G G	GGTTTTTT others(4): Show GGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03017.hp2 HG03491.hp2 others(2): Show HG01074.hp2 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 others(2): Show a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0332	5	348	0.0144	11	c.57+ others(28): Show c.57+18673_57+18674insGTTTTTTTTTT	CDS2	ENSG00000101290.14	transcript	ENST00000460006.6	protein_coding	1/12			chr20	TogoVar
CDSN_chr6_31110087_31125446	31113721	T T	TGTTGAAG others(4): Show TGTTGAAGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01099.hp1 HG01167.hp2 others(35): Show HG01074.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0005c0005 a0007c0007	a0001c0001t0001 a0002c0002t0002 a0003c0004t0001 others(3): Show a0001c0001t0001 a0002c0002t0002 a0003c0004t0001 a0005c0005t0006 a0005c0005t0014 a0007c0007t0007	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0022 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0063 a0002c0002t0002g0040 a0003c0004t0001g0003 a0005c0005t0006g0044 a0005c0005t0014g0090 a0007c0007t0007g0015	38	446	0.0852	11	c.23 others(22): Show c.2303_*2304insCCAGCTTCAAC	CDSN	ENSG00000204539.4	transcript	ENST00000376288.3	protein_coding		1365		chr6	TogoVar
CDSN_chr6_31110087_31125446	31118837	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0079	1	446	0.0022	11	c.86- others(26): Show c.86-1309_86-1308insAAAAAAAAAAA	CDSN	ENSG00000204539.4	transcript	ENST00000376288.3	protein_coding	1/1			chr6	TogoVar
CDT1_chr16_88798789_88814258	88813162	T T	TCCAGGGC others(4): Show TCCAGGGCGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0001 a0001c0003t0003g0001	1	444	0.0023	11	c.48 others(22): Show c.4884_*4885insCCAGGGCGGAC	CDT1	ENSG00000167513.9	transcript	ENST00000301019.9	protein_coding		3905		chr16	TogoVar
CDV3_chr3_133568686_133595261	133576841	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01074.hp1 HG01099.hp1 others(68): Show HG00544.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01175.hp1 HG01261.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02523.hp1 HG02523.hp2 HG02630.hp2 HG02683.hp1 HG02895.hp1 HG03017.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03834.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18977.hp1 NA18983.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp2 NA18999.hp2 NA19005.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0003c0003t0004	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0002g0034 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0003g0082 a0001c0001t0004g0009 a0001c0001t0004g0094 a0001c0001t0011g0027 a0001c0001t0012g0002 a0001c0001t0015g0150 a0001c0001t0017g0002 a0003c0003t0004g0133	71	386	0.1839	11	c.317 others(28): Show c.317+1739_317+1749dupTTTTTTTTTTT	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CDV3_chr3_133568686_133595261	133594433	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01106.hp1 HG01168.hp2 others(12): Show HG00408.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG02055.hp2 HG02809.hp1 HG03195.hp1 NA19030.hp1 NA20129.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0035 a0001c0001t0001g0080 a0001c0001t0003g0008 others(7): Show a0001c0001t0001g0035 a0001c0001t0001g0080 a0001c0001t0003g0008 a0001c0001t0003g0011 a0001c0001t0003g0153 a0001c0001t0005g0021 a0001c0001t0005g0117 a0001c0001t0005g0119 a0001c0001t0006g0012 a0001c0001t0006g0019	15	386	0.0389	11	c.63 others(22): Show c.6387_*6388insAAAAAAAAAAA	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding		4173		chr3	TogoVar
CDV3_chr3_133568686_133595261	133594446	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02895.hp1 HG01109.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0096 a0001c0001t0004g0094 a0001c0001t0001g0096 a0001c0001t0004g0094	2	386	0.0052	11	c.64 others(22): Show c.6400_*6401insAAAAAAAAAAC	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding		4186		chr3	TogoVar
CDV3_chr3_133568686_133595261	133594446	A A	AAACAAAA others(4): Show AAACAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	386	0.0026	11	c.64 others(22): Show c.6400_*6401insAACAAAAAAAC	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding		4186		chr3	TogoVar
CDYL_chr6_4771404_4960544	4897790	G G	GTTTTGTT others(4): Show GTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG02080.hp2 others(8): Show HG00099.hp1 HG00741.hp1 HG02080.hp2 HG02622.hp2 HG03540.hp2 NA18948.hp1 NA18951.hp1 NA18956.hp1 NA18975.hp2 NA18991.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0013	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0123 others(8): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0231 a0001c0001t0001g0249 a0001c0001t0002g0197 a0001c0001t0002g0242 a0001c0001t0002g0250 a0001c0001t0007g0186 a0001c0002t0013g0111	11	250	0.0440	11	c.691 others(28): Show c.691+5415_691+5416insGTTTTTTTTTT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM18_chr19_51473539_51496301	51481798	T T	TAACACGC others(4): Show TAACACGCGATC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	420	0.0024	11	c.673 others(26): Show c.673+133_673+134insAACACGCGATC	CEACAM18	ENSG00000213822.7	transcript	ENST00000396477.5	protein_coding	3/5			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44510547	G G	GGAAGGAA others(4): Show GGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0172 a0005c0005t0001g0172	1	438	0.0023	11	c.173 others(28): Show c.1737+482_1737+483insTTCCTTCCTTC	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	11/11			chr19	TogoVar
CEACAM21_chr19_41571166_41591844	41588416	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0002 a0003c0002t0001g0002	1	393	0.0025	11	c.19 others(22): Show c.1953_*1954insTTTTTTTTTTT	CEACAM21	ENSG00000007129.18	transcript	ENST00000401445.4	protein_coding		1573		chr19	TogoVar
CEACAM5_chr19_41703626_41735433	41728786	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp2 HG01346.hp1 others(35): Show HG00738.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 NA18962.hp2 NA19030.hp1 NA19043.hp2 NA19067.hp2 NA19078.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp2	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0006 a0007 a0008 a0011 a0014	a0001c0001 a0004c0004 a0005c0005 others(6): Show a0001c0001 a0004c0004 a0005c0005 a0006c0006 a0006c0028 a0007c0025 a0008c0008 a0011c0010 a0014c0014	a0001c0001t0002 a0001c0001t0004 a0004c0004t0004 others(10): Show a0001c0001t0002 a0001c0001t0004 a0004c0004t0004 a0004c0004t0005 a0005c0005t0006 a0006c0006t0004 a0006c0006t0014 a0006c0028t0002 a0007c0025t0007 a0008c0008t0002 a0008c0008t0005 a0011c0010t0004 a0014c0014t0004	a0001c0001t0002g0070 a0001c0001t0002g0077 a0001c0001t0002g0081 others(26): Show a0001c0001t0002g0070 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0004g0032 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0109 a0004c0004t0004g0114 a0004c0004t0004g0115 a0004c0004t0004g0118 a0004c0004t0005g0010 a0004c0004t0005g0117 a0005c0005t0006g0014 a0005c0005t0006g0053 a0005c0005t0006g0057 a0005c0005t0006g0058 a0006c0006t0004g0013 a0006c0006t0004g0127 a0006c0006t0004g0130 a0006c0006t0004g0131 a0006c0006t0004g0132 a0006c0006t0014g0013 a0006c0028t0002g0133 a0007c0025t0007g0099 a0008c0008t0002g0047 a0008c0008t0005g0045 a0011c0010t0004g0120 a0011c0010t0004g0123 a0014c0014t0004g0121	38	374	0.1016	11	c.37 others(26): Show c.37-389_*37-379dupAAAAAAAAAAA	CEACAM5	ENSG00000105388.17	transcript	ENST00000221992.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEACAM8_chr19_42575243_42599924	42581920	A A	AAAAAAAT others(4): Show AAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0062	1	314	0.0032	11	c.41 others(26): Show c.41-568_*41-567insATATATTTTTT	CEACAM8	ENSG00000124469.12	transcript	ENST00000244336.10	protein_coding	5/5			chr19	TogoVar
CEACAM8_chr19_42575243_42599924	42584202	T T	TACACACA others(4): Show TACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02615.hp2 others(11): Show HG02145.hp2 HG02572.hp1 HG02615.hp2 HG02717.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG06807.hp2 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0005 a0003c0003t0003 a0003c0003t0005	a0003c0003t0003g0014 a0003c0003t0003g0046 a0003c0003t0003g0047 others(5): Show a0003c0003t0003g0014 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0204 a0003c0003t0003g0207 a0003c0003t0005g0045 a0003c0003t0005g0203 a0003c0003t0005g0206	14	314	0.0446	11	c.959 others(26): Show c.959-866_959-865insTGTGTGTGTGT	CEACAM8	ENSG00000124469.12	transcript	ENST00000244336.10	protein_coding	4/5			chr19	TogoVar
CEBPE_chr14_23112306_23124255	23120510	T T	TGGGGGGG others(4): Show TGGGGGGGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 NA20752.hp2 HG01070.hp1 HG01071.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	458	0.0066	11	c.-14 others(22): Show c.-1420_-1419insCCACCCCCCCC	CEBPE	ENSG00000092067.7	transcript	ENST00000206513.6	protein_coding		1256		chr14	TogoVar
CEBPZOS_chr2_37191496_37209743	37202644	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0004 a0001c0001t0049g0004	1	466	0.0022	11	c.82 others(20): Show c.822_*832dupAAAAAAAAAAA	CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding	5/5	969	INFO_REALIGN_3_PRIME	chr2	TogoVar
CEBPZ_chr2_37196612_37236596	37202644	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	438	0.0023	11	c.302 others(28): Show c.3025+129_3025+139dupTTTTTTTTTTT	CEBPZ	ENSG00000115816.15	transcript	ENST00000234170.10	protein_coding	15/15			chr2	TogoVar
CECR2_chr22_17364460_17563151	17404364	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01071.hp1 HG01099.hp1 others(20): Show HG00733.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01258.hp1 HG01261.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG02486.hp1 HG02572.hp2 HG02683.hp2 HG02895.hp1 HG03486.hp1 HG03486.hp2 HG03688.hp1 HG03927.hp2 HG04184.hp2 NA18945.hp2 NA18972.hp2 NA18977.hp1 NA18979.hp2 NA20752.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0013 a0002c0002 others(2): Show a0001c0001 a0001c0013 a0002c0002 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0030 a0001c0001t0068 a0001c0013t0001 a0002c0002t0003 a0002c0002t0032 a0004c0004t0006 a0005c0005t0016	a0001c0001t0001g0042 a0001c0001t0001g0132 a0001c0001t0002g0058 others(20): Show a0001c0001t0001g0042 a0001c0001t0001g0132 a0001c0001t0002g0058 a0001c0001t0002g0096 a0001c0001t0002g0128 a0001c0001t0002g0213 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0234 a0001c0001t0003g0161 a0001c0001t0004g0064 a0001c0001t0005g0222 a0001c0001t0008g0308 a0001c0001t0013g0114 a0001c0001t0030g0054 a0001c0001t0068g0150 a0001c0013t0001g0122 a0002c0002t0003g0056 a0002c0002t0003g0201 a0002c0002t0003g0218 a0002c0002t0032g0087 a0004c0004t0006g0197 a0005c0005t0016g0181	23	324	0.0710	11	c.126 others(30): Show c.126+34458_126+34459insTTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17421614	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0187 a0001c0001t0009g0187	1	324	0.0031	11	c.126 others(30): Show c.126+51724_126+51734dupAAAAAAAAAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17447033	C C	CTGTTTTT others(4): Show CTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00673.hp2 others(15): Show HG00609.hp1 HG00621.hp1 HG00673.hp2 HG03491.hp1 NA18906.hp1 NA18939.hp2 NA18957.hp2 NA18960.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18982.hp2 NA18984.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19077.hp2 NA19081.hp1	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0017c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0061 a0001c0006t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0012 a0002c0002t0014 a0017c0012t0001	a0001c0001t0001g0069 a0001c0001t0002g0200 a0001c0001t0002g0235 others(15): Show a0001c0001t0001g0069 a0001c0001t0002g0200 a0001c0001t0002g0235 a0001c0001t0003g0186 a0001c0001t0004g0105 a0001c0001t0004g0254 a0001c0001t0061g0289 a0001c0006t0004g0123 a0002c0002t0001g0184 a0002c0002t0002g0081 a0002c0002t0002g0107 a0002c0002t0003g0233 a0002c0002t0005g0149 a0002c0002t0006g0302 a0002c0002t0006g0303 a0002c0002t0012g0153 a0002c0002t0014g0208 a0017c0012t0001g0256	18	324	0.0556	11	c.127 others(30): Show c.127-30554_127-30553insGTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17482115	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02056.hp1 HG02165.hp1 others(9): Show HG01169.hp2 HG02056.hp1 HG02165.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18978.hp2 NA18998.hp1 NA18999.hp1 NA19077.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0014 a0002c0002t0065 a0002c0002t0066	a0001c0001t0001g0093 a0001c0001t0002g0080 a0001c0001t0004g0022 others(9): Show a0001c0001t0001g0093 a0001c0001t0002g0080 a0001c0001t0004g0022 a0001c0001t0004g0066 a0002c0002t0001g0175 a0002c0002t0001g0184 a0002c0002t0002g0224 a0002c0002t0003g0020 a0002c0002t0003g0032 a0002c0002t0014g0208 a0002c0002t0065g0217 a0002c0002t0066g0030	12	324	0.0370	11	c.221 others(28): Show c.221+4449_221+4459dupAAAAAAAAAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17532700	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0047 a0001c0017t0047	a0001c0017t0047g0295 a0001c0017t0047g0295	1	324	0.0031	11	c.110 others(30): Show c.1109-4378_1109-4368dupTTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17545374	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp2 HG02818.hp2 others(1): Show HG01255.hp2 HG02109.hp2 HG02818.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0040 a0001c0001t0057 others(1): Show a0001c0001t0009 a0001c0001t0040 a0001c0001t0057 a0001c0001t0058	a0001c0001t0009g0168 a0001c0001t0040g0283 a0001c0001t0057g0245 others(1): Show a0001c0001t0009g0168 a0001c0001t0040g0283 a0001c0001t0057g0245 a0001c0001t0058g0292	4	324	0.0124	11	c.286 others(30): Show c.2860+2384_2860+2394dupAAAAAAAAAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CELA1_chr12_51323442_51351679	51347994	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03669.hp2 HG03492.hp1 HG03669.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0006 a0002c0004t0002g0031 a0002c0004t0002g0006 a0002c0004t0002g0031	2	406	0.0049	11	c.-13 others(22): Show c.-1357_-1356insTTTTTTTTTTT	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding		1316		chr12	TogoVar
CELA3A_chr1_21996657_22017542	22008152	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(53): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00597.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01981.hp1 HG02027.hp2 HG02055.hp2 HG02083.hp1 HG02559.hp1 HG02602.hp1 HG02683.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18963.hp1 NA18968.hp2 NA18984.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0003 a0008c0012 a0009c0013 a0001c0003 a0008c0012 a0009c0013	a0001c0003t0001 a0008c0012t0001 a0009c0013t0001 a0001c0003t0001 a0008c0012t0001 a0009c0013t0001	a0001c0003t0001g0004 a0001c0003t0001g0007 a0001c0003t0001g0014 others(21): Show a0001c0003t0001g0004 a0001c0003t0001g0007 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0030 a0001c0003t0001g0032 a0001c0003t0001g0035 a0001c0003t0001g0069 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0092 a0001c0003t0001g0122 a0001c0003t0001g0123 a0008c0012t0001g0004 a0009c0013t0001g0015	56	419	0.1337	11	c.642 others(26): Show c.642+643_642+653dupTTTTTTTTTTT	CELA3A	ENSG00000142789.20	transcript	ENST00000290122.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CELA3B_chr1_21972022_21994354	21972454	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp2 others(78): Show HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG01081.hp1 HG01099.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18973.hp2 NA18974.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp2 NA19054.hp1 NA19070.hp2 NA19081.hp1 NA19084.hp1 NA19090.hp1 NA19091.hp1 NA20905.hp1 NA20905.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0009 a0007c0016 a0001c0001 a0005c0009 a0007c0016	a0001c0001t0001 a0001c0001t0003 a0005c0009t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0005c0009t0001 a0007c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0003g0031 a0005c0009t0001g0003 a0007c0016t0001g0097	81	444	0.1824	11	c.-45 others(22): Show c.-4586_-4585insAAAAAAAAAAA	CELA3B	ENSG00000219073.8	transcript	ENST00000337107.11	protein_coding		4567		chr1	TogoVar
CELA3B_chr1_21972022_21994354	21991738	C C	CAGAAACA others(4): Show CAGAAACAGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	444	0.0023	11	c.24 others(22): Show c.2459_*2460insAGAAACAGGCA	CELA3B	ENSG00000219073.8	transcript	ENST00000337107.11	protein_coding		2385		chr1	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02970.hp1 HG03017.hp1 others(3): Show HG01192.hp2 HG02970.hp1 HG03017.hp1 HG03579.hp2 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0002g0029 a0001c0001t0003g0040 a0001c0001t0004g0004 others(3): Show a0001c0001t0002g0029 a0001c0001t0003g0040 a0001c0001t0004g0004 a0001c0001t0004g0007 a0001c0001t0004g0009 a0001c0001t0008g0098	6	340	0.0177	11	c.72- others(24): Show c.72-922_72-912dupAAAAAAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF1_chr11_47460937_47558132	47533631	A A	ATAAATAC others(4): Show ATAAATACATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG00735.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0028 a0001c0001t0003 a0001c0001t0028	a0001c0001t0003g0097 a0001c0001t0028g0035 a0001c0001t0003g0097 a0001c0001t0028g0035	2	340	0.0059	11	c.-15 others(32): Show c.-154+19360_-154+19361insGTATGTATTTA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CELF1_chr11_47460937_47558132	47547065	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	340	0.0029	11	c.-15 others(30): Show c.-154+5916_-154+5926dupTTTTTTTTTTT	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CELF1_chr11_47460937_47558132	47556447	A A	ATTTTGGC others(4): Show ATTTTGGCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	340	0.0029	11	c.-36 others(22): Show c.-3610_-3609insGGAAGCCAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		3316		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557524	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0308 a0001c0003t0011g0308	1	340	0.0029	11	c.-46 others(22): Show c.-4687_-4686insAAAAAAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4393		chr11	TogoVar
CELF2_chr10_11012872_11341675	11032146	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02257.hp2 HG04228.hp2 HG02080.hp2 HG02257.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0008 a0001c0001t0022 a0001c0004t0001 a0001c0001t0008 a0001c0001t0022 a0001c0004t0001	a0001c0001t0008g0081 a0001c0001t0022g0022 a0001c0004t0001g0113 a0001c0001t0008g0081 a0001c0001t0022g0022 a0001c0004t0001g0113	3	194	0.0155	11	c.74+ others(28): Show c.74+13998_74+14008dupAAAAAAAAAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar

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