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
CLUAP1_chr16_3496004_3544048	3507680	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG02027.hp1 others(12): Show HG00323.hp2 HG00558.hp2 HG02027.hp1 HG02027.hp2 HG02135.hp1 HG03491.hp2 HG03669.hp2 NA18950.hp1 NA18951.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp2 NA19010.hp1 NA19070.hp2 NA19074.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0004 a0008c0009 a0001c0001 a0001c0004 a0008c0009	a0001c0001t0001 a0001c0004t0008 a0001c0004t0009 others(3): Show a0001c0001t0001 a0001c0004t0008 a0001c0004t0009 a0001c0004t0011 a0001c0004t0022 a0008c0009t0021	a0001c0001t0001g0107 a0001c0004t0008g0077 a0001c0004t0009g0004 others(9): Show a0001c0001t0001g0107 a0001c0004t0008g0077 a0001c0004t0009g0004 a0001c0004t0009g0033 a0001c0004t0009g0036 a0001c0004t0011g0032 a0001c0004t0011g0034 a0001c0004t0011g0037 a0001c0004t0011g0038 a0001c0004t0011g0039 a0001c0004t0022g0035 a0008c0009t0021g0040	15	382	0.0393	-12	c.220 others(27): Show c.220-582_220-571delTGTGTGTGTGTG	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUAP1_chr16_3496004_3544048	3529770	TTATTATA others(5): Show TTATTATATATTA	T T	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0036 a0001c0004t0009g0036	1	382	0.0026	-12	c.929 others(27): Show c.929-794_929-783delTATATATTATAT	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUAP1_chr16_3496004_3544048	3529817	AATATAAT others(5): Show AATATAATATATT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0271 a0001c0001t0023g0271	1	382	0.0026	-12	c.929 others(27): Show c.929-727_929-716delTATATAATATAT	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUH_chr17_2684387_2716764	2685622	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	420	0.0024	-12	c.49 others(23): Show c.4960_*4971delAAAAAAAAAAAA	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding		3764		chr17	TogoVar
CLUH_chr17_2684387_2716764	2691975	CCCGCCCC others(5): Show CCCGCCCCCGCCA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02055.hp2 HG02258.hp1 others(19): Show HG01081.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG06807.hp1 NA18906.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0012 a0002c0008	a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 a0001c0004t0003 a0001c0007t0002 a0001c0007t0003 a0001c0012t0005 a0002c0008t0001	a0001c0001t0001g0218 a0001c0003t0001g0261 a0001c0003t0001g0264 others(13): Show a0001c0001t0001g0218 a0001c0003t0001g0261 a0001c0003t0001g0264 a0001c0003t0001g0265 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0005g0016 a0001c0003t0005g0272 a0001c0004t0003g0009 a0001c0007t0002g0042 a0001c0007t0002g0328 a0001c0007t0002g0329 a0001c0007t0003g0330 a0001c0012t0005g0038 a0002c0008t0001g0046 a0002c0008t0001g0048	22	420	0.0524	-12	c.365 others(27): Show c.3654+17_3654+28delTGGCGGGGGCGG	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25			chr17	TogoVar
CLUH_chr17_2684387_2716764	2706872	GACAGCCT others(5): Show GACAGCCTGTGTT	G G	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	420	0.0024	-12	c.101 others(29): Show c.101-2320_101-2309delAACACAGGCTGT	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	1/25			chr17	TogoVar
CLUL1_chr18_591988_655182	596930	CCCGCCCA others(5): Show CCCGCCCACCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	414	0.0024	-12	c.-33 others(21): Show c.-334_-323delCCGCCCACCCGG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding		57		chr18	TogoVar
CLUL1_chr18_591988_655182	626926	AGAAGGAA others(5): Show AGAAGGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0370 a0001c0001t0001g0370	1	414	0.0024	-12	c.424 others(27): Show c.424-167_424-156delGGAAAGAAGGAA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	626942	AGAAGGAA others(5): Show AGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	414	0.0024	-12	c.424 others(25): Show c.424-99_424-88delGGAAGGAAGGAA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	627002	GGAAGGAA others(5): Show GGAAGGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	414	0.0024	-12	c.424 others(25): Show c.424-91_424-80delGGAAAGAAAGAA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	645810	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01106.hp2 HG01175.hp1 others(18): Show HG00408.hp1 HG01106.hp2 HG01175.hp1 HG01884.hp2 HG02451.hp1 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03139.hp2 HG03195.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp2 NA18970.hp1 NA18970.hp2 NA19000.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0152 others(18): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0152 a0001c0001t0001g0173 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0374 a0001c0001t0001g0377 a0001c0001t0001g0386 a0001c0001t0001g0397 a0001c0001t0001g0402 a0001c0001t0002g0007 a0001c0001t0002g0128 a0001c0001t0002g0208 a0001c0001t0003g0111 a0001c0001t0003g0343 a0001c0001t0004g0310 a0001c0001t0004g0314	21	414	0.0507	-12	c.139 others(29): Show c.1397+744_1397+755delATATATATATAT	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	646497	GACACACA others(5): Show GACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	414	0.0024	-12	c.139 others(31): Show c.1397+1431_1397+1442delACACACACACAC	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	651897	GGCATGAG others(5): Show GGCATGAGCCACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02622.hp1 others(19): Show HG01884.hp1 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0005 others(1): Show a0001c0001 a0001c0004 a0002c0005 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0004t0001 a0002c0005t0001 a0003c0006t0002	a0001c0001t0001g0049 a0001c0001t0001g0077 a0001c0001t0001g0210 others(19): Show a0001c0001t0001g0049 a0001c0001t0001g0077 a0001c0001t0001g0210 a0001c0001t0001g0223 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0389 a0001c0001t0002g0006 a0001c0001t0002g0126 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0113 a0001c0001t0003g0340 a0001c0001t0003g0342 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0312 a0001c0001t0006g0261 a0001c0004t0001g0281 a0002c0005t0001g0048 a0003c0006t0002g0127	22	414	0.0531	-12	c.19 others(23): Show c.1997_*2008delGCATGAGCCACT	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding		1716		chr18	TogoVar
CLU_chr8_27591917_27619700	27593417	CGTTACGT others(5): Show CGTTACGTTACTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	458	0.0022	-12	c.48 others(23): Show c.4812_*4823delAAGTAACGTAAC	CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding		3499		chr8	TogoVar
CLVS1_chr8_61282970_61506629	61325211	CACACACA others(5): Show CACACACACACAT	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19007.hp2 NA18964.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0067 a0001c0001t0003g0153 a0001c0001t0001g0067 a0001c0001t0003g0153	2	184	0.0109	-12	c.455 others(31): Show c.455+24941_455+24952delTACACACACACA	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS1_chr8_61282970_61506629	61347626	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00735.hp1 others(44): Show HG00140.hp1 HG00558.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp1 HG01346.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03927.hp2 NA18612.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp1 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0018 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028	a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0039 others(44): Show a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0140 a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0041 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0073 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0102 a0001c0001t0002g0116 a0001c0001t0002g0123 a0001c0001t0002g0131 a0001c0001t0002g0148 a0001c0001t0002g0156 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0179 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0100 a0001c0001t0003g0117 a0001c0001t0003g0146 a0001c0001t0006g0006 a0001c0001t0006g0016 a0001c0001t0007g0008 a0001c0001t0016g0014 a0001c0001t0018g0011 a0001c0001t0025g0171 a0001c0001t0027g0058 a0001c0001t0028g0176	47	184	0.2554	-12	c.456 others(31): Show c.456-28933_456-28922delATATATATATAT	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS1_chr8_61282970_61506629	61416297	GCTAGCTA others(5): Show GCTAGCTAGATAC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03139.hp1 HG01109.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0169 a0001c0001t0002g0057 a0001c0001t0002g0169	2	184	0.0109	-12	c.631 others(31): Show c.631-37843_631-37832delCTAGCTAGATAC	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	3/5			chr8	TogoVar
CLVS1_chr8_61282970_61506629	61416301	GCTAGATA others(5): Show GCTAGATACATAC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp1 HG03225.hp1 HG01192.hp2 HG02055.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0028 a0001c0001t0002 a0001c0001t0025 a0001c0001t0028	a0001c0001t0002g0084 a0001c0001t0025g0171 a0001c0001t0028g0176 a0001c0001t0002g0084 a0001c0001t0025g0171 a0001c0001t0028g0176	3	184	0.0163	-12	c.631 others(31): Show c.631-37839_631-37828delCTAGATACATAC	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	3/5			chr8	TogoVar
CLVS1_chr8_61282970_61506629	61416305	GATACATA others(5): Show GATACATACATAC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03098.hp1 HG02257.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0179 a0001c0001t0002g0095 a0001c0001t0002g0179	2	184	0.0109	-12	c.631 others(31): Show c.631-37796_631-37785delCATACATACATA	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS2_chr6_122991235_123077925	123057334	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(163): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0038 a0001c0001t0040 a0001c0001t0046 a0001c0001t0047 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0057 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0090 a0001c0002t0024 a0001c0002t0029	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(145): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0171 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0253 a0001c0001t0003g0106 a0001c0001t0003g0120 a0001c0001t0006g0008 a0001c0001t0006g0025 a0001c0001t0006g0026 a0001c0001t0006g0204 a0001c0001t0006g0208 a0001c0001t0006g0210 a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0006g0242 a0001c0001t0008g0001 a0001c0001t0008g0002 a0001c0001t0008g0043 a0001c0001t0008g0045 a0001c0001t0010g0019 a0001c0001t0010g0154 a0001c0001t0010g0157 a0001c0001t0010g0158 a0001c0001t0010g0159 a0001c0001t0010g0161 a0001c0001t0011g0012 a0001c0001t0011g0067 a0001c0001t0011g0069 a0001c0001t0011g0070 a0001c0001t0011g0076 a0001c0001t0011g0084 a0001c0001t0014g0196 a0001c0001t0014g0198 a0001c0001t0014g0201 a0001c0001t0014g0227 a0001c0001t0014g0230 a0001c0001t0015g0173 a0001c0001t0015g0174 a0001c0001t0015g0175 a0001c0001t0016g0027 a0001c0001t0016g0162 a0001c0001t0016g0244 a0001c0001t0017g0100 a0001c0001t0017g0149 a0001c0001t0017g0163 a0001c0001t0017g0170 a0001c0001t0022g0118 a0001c0001t0022g0144 a0001c0001t0022g0145 a0001c0001t0030g0010 a0001c0001t0032g0277 a0001c0001t0032g0283 a0001c0001t0033g0271 a0001c0001t0033g0273 a0001c0001t0035g0265 a0001c0001t0035g0266 a0001c0001t0038g0094 a0001c0001t0038g0095 a0001c0001t0040g0101 a0001c0001t0040g0160 a0001c0001t0046g0025 a0001c0001t0047g0046 a0001c0001t0050g0006 a0001c0001t0051g0057 a0001c0001t0052g0147 a0001c0001t0053g0088 a0001c0001t0057g0164 a0001c0001t0067g0038 a0001c0001t0071g0178 a0001c0001t0072g0245 a0001c0001t0073g0246 a0001c0001t0077g0222 a0001c0001t0079g0155 a0001c0001t0080g0200 a0001c0001t0082g0285 a0001c0001t0083g0165 a0001c0001t0084g0287 a0001c0001t0086g0150 a0001c0001t0090g0286 a0001c0002t0024g0258 a0001c0002t0024g0259 a0001c0002t0029g0041 a0001c0002t0029g0042	166	336	0.4941	-12	c.896 others(29): Show c.896+1328_896+1339delTTTTTTTTTTTT	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
CLVS2_chr6_122991235_123077925	123075281	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01167.hp2 others(31): Show HG01070.hp2 HG01071.hp1 HG01167.hp2 HG01256.hp1 HG01261.hp2 HG01496.hp1 HG01517.hp1 HG01934.hp1 HG02055.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02735.hp2 HG02922.hp1 HG03041.hp2 HG03239.hp2 HG03927.hp2 HG06807.hp1 NA18945.hp2 NA18969.hp1 NA18970.hp2 NA18983.hp2 NA18995.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19065.hp1 NA19076.hp2 NA19077.hp1 NA19087.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0023 a0001c0001t0025 a0001c0001t0030 a0001c0001t0037 a0001c0001t0040 a0001c0001t0053 a0001c0001t0060 a0001c0001t0061 a0001c0001t0075 a0001c0001t0089 a0001c0004t0076	a0001c0001t0001g0082 a0001c0001t0002g0207 a0001c0001t0002g0209 others(29): Show a0001c0001t0001g0082 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0224 a0001c0001t0003g0016 a0001c0001t0003g0020 a0001c0001t0003g0034 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0146 a0001c0001t0004g0017 a0001c0001t0004g0102 a0001c0001t0004g0130 a0001c0001t0006g0008 a0001c0001t0006g0216 a0001c0001t0006g0238 a0001c0001t0010g0019 a0001c0001t0010g0154 a0001c0001t0012g0058 a0001c0001t0015g0173 a0001c0001t0015g0176 a0001c0001t0023g0186 a0001c0001t0025g0263 a0001c0001t0030g0010 a0001c0001t0037g0126 a0001c0001t0040g0160 a0001c0001t0053g0088 a0001c0001t0060g0247 a0001c0001t0061g0028 a0001c0001t0075g0243 a0001c0001t0089g0156 a0001c0004t0076g0192	34	336	0.1012	-12	c.11 others(25): Show c.11521_*11532delTTTCTTTCTTTC	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding		2357		chr6	TogoVar
CLXN_chr8_48718391_48740268	48726995	TCATCCAT others(5): Show TCATCCATCCATC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	394	0.0025	-12	c.576 others(29): Show c.576+2035_576+2046delGATGGATGGATG	CLXN	ENSG00000034239.11	transcript	ENST00000262103.8	protein_coding	5/5			chr8	TogoVar
CLXN_chr8_48718391_48740268	48727214	TCATCCAT others(5): Show TCATCCATCCATC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	394	0.0025	-12	c.576 others(29): Show c.576+1816_576+1827delGATGGATGGATG	CLXN	ENSG00000034239.11	transcript	ENST00000262103.8	protein_coding	5/5			chr8	TogoVar
CLYBL_chr13_99601690_99897570	99607305	AAAAAAAA others(5): Show AAAAAAAAGTGAG	A A	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	218	0.0046	-12	c.62+ others(25): Show c.62+551_62+562delAAAAAGTGAGAA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99613022	GATGATAA others(5): Show GATGATAATAATA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp2 HG01433.hp1 others(3): Show HG01106.hp1 HG01361.hp2 HG01433.hp1 HG02735.hp1 HG03041.hp2 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0114 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0114 a0001c0001t0001g0115 a0002c0002t0001g0113 a0002c0002t0001g0116	6	218	0.0275	-12	c.62+ others(27): Show c.62+6268_62+6279delGATAATAATAAT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99676182	GTCCGTCC others(5): Show GTCCGTCCTTCCT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0111	1	218	0.0046	-12	c.62+ others(29): Show c.62+69429_62+69440delGTCCTTCCTTCC	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99676186	GTCCTTCC others(5): Show GTCCTTCCTTCCT	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0001g0106	3	218	0.0138	-12	c.62+ others(29): Show c.62+69471_62+69482delCCTTCCTTCCTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99676228	CCTTCCTT others(5): Show CCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	218	0.0046	-12	c.62+ others(29): Show c.62+69473_62+69484delTTCCTTCCTTTC	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99768517	TTTTTTTT others(5): Show TTTTTTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18960.hp2 HG03195.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0001g0107 a0001c0001t0001g0117	2	218	0.0092	-12	c.63- others(27): Show c.63-4306_63-4295delTTTTTTTTTTTA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8			chr13	TogoVar
CLYBL_chr13_99601690_99897570	99771020	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	218	0.0046	-12	c.63- others(27): Show c.63-1784_63-1773delTTTTTTTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99785191	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03486.hp2 HG03579.hp2 HG02486.hp1 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0066	3	218	0.0138	-12	c.249 others(31): Show c.249+12204_249+12215delTTTTTTTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99818446	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG01106.hp1 others(1): Show HG00323.hp1 HG01074.hp1 HG01106.hp1 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0168 a0001c0001t0001g0170 a0002c0002t0001g0116 others(1): Show a0001c0001t0001g0168 a0001c0001t0001g0170 a0002c0002t0001g0116 a0004c0004t0001g0049	4	218	0.0184	-12	c.250 others(31): Show c.250-40388_250-40377delACACACACACAC	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99819416	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG01243.hp1 others(7): Show HG00099.hp1 HG00280.hp2 HG01243.hp1 HG02055.hp1 HG02165.hp1 HG02486.hp2 HG03710.hp2 HG04115.hp1 NA18947.hp1 NA19064.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0007c0010	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0007c0010t0001	a0001c0001t0001g0051 a0001c0001t0001g0067 a0001c0001t0001g0099 others(7): Show a0001c0001t0001g0051 a0001c0001t0001g0067 a0001c0001t0001g0099 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0208 a0001c0001t0001g0217 a0002c0002t0001g0018 a0003c0003t0001g0021 a0007c0010t0001g0073	10	218	0.0459	-12	c.250 others(31): Show c.250-39404_250-39393delTATATATATATA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99832999	CATACATA others(5): Show CATACATACATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	218	0.0046	-12	c.250 others(31): Show c.250-25858_250-25847delCATACATATATA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99833683	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	218	0.0046	-12	c.250 others(31): Show c.250-25163_250-25152delTTTTTTTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CMA1_chr14_24500353_24513265	24505241	CACACACA others(5): Show CACACACACACAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02886.hp2 HG02922.hp1 others(3): Show HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0003g0009 a0001c0001t0005g0015 a0001c0001t0001g0001 a0001c0001t0003g0009 a0001c0001t0005g0015	6	432	0.0139	-12	c.26 others(21): Show c.263_*274delTTGTGTGTGTGT	CMA1	ENSG00000092009.10	transcript	ENST00000250378.7	protein_coding		111		chr14	TogoVar
CMAS_chr12_22041218_22070668	22041971	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01192.hp1 HG01361.hp2 others(7): Show HG00438.hp1 HG01192.hp1 HG01361.hp2 HG02698.hp1 HG03831.hp2 HG03942.hp2 NA18978.hp2 NA18990.hp1 NA18997.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0034 a0001c0002t0001g0001 a0001c0002t0001g0003 others(6): Show a0001c0001t0002g0034 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0016 a0001c0002t0001g0231 a0001c0002t0001g0238 a0001c0002t0001g0244 a0001c0002t0001g0250 a0001c0002t0001g0267	10	450	0.0222	-12	c.-43 others(23): Show c.-4332_-4321delAAAAAAAAAAAG	CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding		4246		chr12	TogoVar
CMAS_chr12_22041218_22070668	22055697	AAAAGGGG others(5): Show AAAAGGGGAGCTG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0260	1	450	0.0022	-12	c.559 others(25): Show c.559+88_559+99delAAAGGGGAGCTG	CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding	3/7			chr12	TogoVar
CMAS_chr12_22041218_22070668	22057228	CACACACA others(5): Show CACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(114): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG01070.hp2 HG01071.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01361.hp2 HG01891.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp1 HG02630.hp2 HG02809.hp2 HG02886.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0023 a0001c0001t0001g0116 a0001c0001t0001g0181 others(55): Show a0001c0001t0001g0023 a0001c0001t0001g0116 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0207 a0001c0001t0001g0245 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0016 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0107 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0216 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0235 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0263 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0003t0001g0184 a0001c0003t0001g0185	117	450	0.2600	-12	c.560 others(29): Show c.560-1327_560-1316delTACACACACACA	CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
CMC1_chr3_28236619_28330142	28255722	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	338	0.0030	-12	c.20- others(27): Show c.20-7548_20-7537delACACACACACAC	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28274208	TTTTGTTT others(5): Show TTTTGTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	338	0.0030	-12	c.109 others(31): Show c.109+10832_109+10843delGTTTTTTTCTTT	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28295377	AAAAATAT others(5): Show AAAAATATGTCTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00609.hp2 others(45): Show HG00280.hp1 HG00423.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01928.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02155.hp2 HG02293.hp2 HG02738.hp2 HG03654.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18969.hp1 NA18977.hp1 NA19003.hp2 NA19062.hp1 NA19072.hp1 NA19075.hp1 NA19087.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0017 a0001c0001t0037	a0001c0001t0002g0314 a0001c0001t0004g0012 a0001c0001t0004g0109 others(44): Show a0001c0001t0002g0314 a0001c0001t0004g0012 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0168 a0001c0001t0004g0184 a0001c0001t0004g0249 a0001c0001t0004g0253 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0013g0295 a0001c0001t0013g0305 a0001c0001t0017g0069 a0001c0001t0017g0283 a0001c0001t0037g0313	48	338	0.1420	-12	c.110 others(31): Show c.110-20955_110-20944delAAAATATGTCTT	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3			chr3	TogoVar
CMC1_chr3_28236619_28330142	28309941	CCACACAC others(5): Show CCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	338	0.0030	-12	c.110 others(29): Show c.110-6354_110-6343delACACACACACAC	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC2_chr16_80961448_81011885	80965198	AAAACATA others(5): Show AAAACATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0016 a0001c0001t0028g0016	1	408	0.0025	-12	c.10 others(25): Show c.10883_*10894delATATATATGTTT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1249		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965243	ATGTTTTT others(5): Show ATGTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0111 a0002c0002t0111	a0002c0002t0111g0287 a0002c0002t0111g0287	1	408	0.0025	-12	c.10 others(25): Show c.10838_*10849delAAAAAAAAAACA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1204		chr16	TogoVar
CMC2_chr16_80961448_81011885	80976567	TCTAGTGG others(5): Show TCTAGTGGAGAGG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01071.hp1 HG00280.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0144 a0001c0001t0047 a0001c0001t0144	a0001c0001t0047g0050 a0001c0001t0144g0274 a0001c0001t0047g0050 a0001c0001t0144g0274	3	408	0.0074	-12	c.154 others(27): Show c.154-400_154-389delCCTCTCCACTAG	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	3/3			chr16	TogoVar
CMC4_chrX_155056622_155076136	155061439	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	292	0.0034	-12	c.39 others(21): Show c.392_*403delTTTTTTTTTTTT	CMC4	ENSG00000182712.16	transcript	ENST00000369484.8	protein_coding		182		chrX	TogoVar
CMIP_chr16_81439808_81716762	81520569	GGAGAGAG others(5): Show GGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	268	0.0037	-12	c.300 others(31): Show c.300+75051_300+75062delGAGAGAGAGAGA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81525996	GTGTGTGT others(5): Show GTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0164 a0001c0001t0001g0165	2	268	0.0075	-12	c.300 others(31): Show c.300+80467_300+80478delCTGTGTGTGTGT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81531117	TGGAGGTC others(5): Show TGGAGGTCATGCG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG01346.hp1 others(10): Show HG01081.hp1 HG01243.hp1 HG01346.hp1 HG01346.hp2 HG02071.hp2 HG02155.hp2 HG02615.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp2 HG06807.hp1 NA18960.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0036	a0001c0001t0001g0018 a0001c0001t0001g0059 a0001c0001t0001g0060 others(10): Show a0001c0001t0001g0018 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0131 a0001c0001t0001g0247 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0004g0011 a0001c0001t0004g0095 a0001c0001t0004g0103 a0001c0001t0009g0069 a0001c0001t0036g0224	13	268	0.0485	-12	c.301 others(31): Show c.301-76438_301-76427delGGGAGGTCATGC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar

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