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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CNTNAP1_chr17_42677531_42704993	42689052	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG01952.hp1 HG04184.hp2 HG01167.hp1 HG01952.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0156 a0001c0001t0002g0038 a0001c0001t0002g0156	3	364	0.0082	0	c.162 others(6): Show c.1628+5C>T		CNTNAP1	ENSG00000108797.12	transcript	ENST00000264638.9	protein_coding	10/23					chr17	TogoVar
CNTNAP1_chr17_42677531_42704993	42697555	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02132.hp1 HG02145.hp1 HG03704.hp1 others(7): Show HG02132.hp1 HG02145.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp2 NA18948.hp1 NA18963.hp2 NA18977.hp2 NA19010.hp1 NA19087.hp1	a0001 a0008 a0001 a0008	a0001c0005 a0001c0009 a0001c0011 others(1): Show a0001c0005 a0001c0009 a0001c0011 a0008c0013	a0001c0005t0002 a0001c0009t0001 a0001c0011t0001 others(1): Show a0001c0005t0002 a0001c0009t0001 a0001c0011t0001 a0008c0013t0001	a0001c0005t0002g0023 a0001c0005t0002g0113 a0001c0005t0002g0119 others(5): Show a0001c0005t0002g0023 a0001c0005t0002g0113 a0001c0005t0002g0119 a0001c0005t0002g0120 a0001c0005t0002g0121 a0001c0009t0001g0091 a0001c0011t0001g0193 a0008c0013t0001g0142	10	364	0.0275	0	c.357 others(4): Show c.3570G>A	p.Glu others(7): Show p.Glu1190Glu	CNTNAP1	ENSG00000108797.12	transcript	ENST00000264638.9	protein_coding	22/24	3869/5537	3570/4155	1190/1384		chr17	TogoVar
CNTNAP2_chr7_146111801_148425998	147977856	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 HG02717.hp1 HG02886.hp1 others(6): Show HG02486.hp2 HG02717.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03139.hp1 HG03540.hp2 NA18522.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0001c0013 a0001c0015 a0002c0017	a0001c0001t0012 a0001c0001t0018 a0001c0003t0004 others(6): Show a0001c0001t0012 a0001c0001t0018 a0001c0003t0004 a0001c0003t0011 a0001c0003t0013 a0001c0008t0001 a0001c0013t0003 a0001c0015t0001 a0002c0017t0015	a0001c0001t0012g0034 a0001c0001t0018g0001 a0001c0003t0004g0029 others(6): Show a0001c0001t0012g0034 a0001c0001t0018g0001 a0001c0003t0004g0029 a0001c0003t0011g0023 a0001c0003t0013g0010 a0001c0008t0001g0025 a0001c0013t0003g0039 a0001c0015t0001g0011 a0002c0017t0015g0037	9	40	0.2250	0	c.225 others(6): Show c.2256-6A>T		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	14/23					chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148229642	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp2 HG03139.hp1 NA18522.hp1 others(1): Show HG03098.hp2 HG03139.hp1 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0001c0013	a0001c0001t0007 a0001c0002t0001 a0001c0008t0001 others(1): Show a0001c0001t0007 a0001c0002t0001 a0001c0008t0001 a0001c0013t0003	a0001c0001t0007g0018 a0001c0002t0001g0021 a0001c0008t0001g0025 others(1): Show a0001c0001t0007g0018 a0001c0002t0001g0021 a0001c0008t0001g0025 a0001c0013t0003g0039	4	40	0.1000	0	c.324 others(6): Show c.3248-4A>G		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	19/23					chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148267026	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02897.hp1 HG02922.hp2 HG02897.hp1 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0005 a0001c0002t0001 a0001c0004t0005	a0001c0002t0001g0008 a0001c0004t0005g0004 a0001c0002t0001g0008 a0001c0004t0005g0004	2	40	0.0500	0	c.338 others(6): Show c.3382-7C>T		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	20/23					chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148409373	C C	CTCTT CTCTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG01891.hp2 HG02451.hp1 others(19): Show HG00735.hp2 HG01891.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02717.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03540.hp1 NA18522.hp2 NA19030.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0008 others(7): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0011 a0001c0015 a0001c0018 a0001c0019 a0002c0017 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0008t0001 a0001c0010t0002 a0001c0011t0016 a0001c0015t0001 a0001c0018t0002 a0001c0019t0006 a0002c0017t0015 a0003c0007t0017	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0002g0006 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0002g0006 a0001c0001t0006g0009 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0001t0012g0034 a0001c0001t0018g0001 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0002t0002g0013 a0001c0002t0002g0040 a0001c0002t0010g0002 a0001c0008t0001g0025 a0001c0010t0002g0014 a0001c0011t0016g0019 a0001c0015t0001g0011 a0001c0018t0002g0012 a0001c0019t0006g0015 a0002c0017t0015g0037 a0003c0007t0017g0031	22	40	0.5500	4	c.371 others(18): Show c.3716-10_3716-7dupTTCT		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	22/23				INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148409385	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG01891.hp2 HG02451.hp1 others(19): Show HG00735.hp2 HG01891.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02717.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03540.hp1 NA18522.hp2 NA19030.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0008 others(7): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0011 a0001c0015 a0001c0018 a0001c0019 a0002c0017 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0008t0001 a0001c0010t0002 a0001c0011t0016 a0001c0015t0001 a0001c0018t0002 a0001c0019t0006 a0002c0017t0015 a0003c0007t0017	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0002g0006 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0002g0006 a0001c0001t0006g0009 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0001t0012g0034 a0001c0001t0018g0001 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0002t0002g0013 a0001c0002t0002g0040 a0001c0002t0010g0002 a0001c0008t0001g0025 a0001c0010t0002g0014 a0001c0011t0016g0019 a0001c0015t0001g0011 a0001c0018t0002g0012 a0001c0019t0006g0015 a0002c0017t0015g0037 a0003c0007t0017g0031	22	40	0.5500	0	c.371 others(6): Show c.3716-6C>G		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	22/23					chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	41953185	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp2 HG00280.hp1 HG00558.hp1 others(31): Show HG00099.hp2 HG00280.hp1 HG00558.hp1 HG00642.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01255.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02135.hp1 HG02145.hp2 HG02273.hp2 HG02486.hp2 HG02717.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG04115.hp1 NA18947.hp1 NA18947.hp2 NA18968.hp1 NA18970.hp2 NA19090.hp1 NA20905.hp2	a0001 a0006 a0010 others(3): Show a0001 a0006 a0010 a0013 a0029 a0034	a0001c0001 a0001c0012 a0001c0042 others(8): Show a0001c0001 a0001c0012 a0001c0042 a0001c0043 a0001c0046 a0006c0007 a0006c0041 a0010c0013 a0013c0021 a0029c0045 a0034c0038	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 a0001c0001t0031 a0001c0012t0002 a0001c0042t0013 a0001c0043t0015 a0001c0046t0016 a0006c0007t0002 a0006c0007t0011 a0006c0041t0002 a0010c0013t0003 a0013c0021t0027 a0029c0045t0002 a0034c0038t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(31): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0017g0012 a0001c0001t0018g0026 a0001c0001t0031g0098 a0001c0012t0002g0007 a0001c0012t0002g0009 a0001c0042t0013g0001 a0001c0043t0015g0013 a0001c0046t0016g0015 a0006c0007t0002g0014 a0006c0007t0011g0017 a0006c0007t0011g0021 a0006c0041t0002g0020 a0010c0013t0003g0103 a0010c0013t0003g0108 a0013c0021t0027g0064 a0029c0045t0002g0019 a0034c0038t0002g0016	34	108	0.3148	0	c.207 others(4): Show c.2078G>A	p.Arg others(6): Show p.Arg693Gln	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	13/24	2410/7652	2078/3867	693/1288		chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42013531	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG02622.hp2	a0026 a0026	a0026c0025 a0026c0025	a0026c0025t0019 a0026c0025t0019	a0026c0025t0019g0028 a0026c0025t0019g0028	1	108	0.0093	0	c.391 others(5): Show c.391-6T>A		CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23					chr9	TogoVar
CNTNAP3_chr9_39059710_39293167	39103746	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0001 a0002c0003t0004g0001	1	4	0.2500	0	c.253 others(4): Show c.2534G>A	p.Arg others(6): Show p.Arg845His	CNTNAP3	ENSG00000106714.18	transcript	ENST00000297668.11	protein_coding	16/24	2637/13150	2534/3867	845/1288		chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76449861	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp1 HG03540.hp1 HG02809.hp1 HG03540.hp1	a0026 a0027 a0026 a0027	a0026c0041 a0027c0040 a0026c0041 a0027c0040	a0026c0041t0004 a0027c0040t0001 a0026c0041t0004 a0027c0040t0001	a0026c0041t0004g0193 a0027c0040t0001g0267 a0026c0041t0004g0193 a0027c0040t0001g0267	2	274	0.0073	0	c.107 others(6): Show c.1071+3G>A		CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	7/23					chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76476051	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02698.hp2 HG02723.hp1 HG02886.hp2 others(7): Show HG02698.hp2 HG02723.hp1 HG02886.hp2 HG02970.hp1 HG03139.hp1 HG03209.hp1 HG03540.hp2 HG04184.hp2 NA19030.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0015 a0002c0002 a0002c0012 others(4): Show a0001c0015 a0002c0002 a0002c0012 a0002c0042 a0003c0006 a0003c0023 a0010c0016	a0001c0015t0006 a0002c0002t0002 a0002c0002t0028 others(6): Show a0001c0015t0006 a0002c0002t0002 a0002c0002t0028 a0002c0012t0002 a0002c0012t0008 a0002c0042t0008 a0003c0006t0006 a0003c0023t0007 a0010c0016t0002	a0001c0015t0006g0166 a0002c0002t0002g0128 a0002c0002t0028g0239 others(7): Show a0001c0015t0006g0166 a0002c0002t0002g0128 a0002c0002t0028g0239 a0002c0012t0002g0048 a0002c0012t0008g0242 a0002c0042t0008g0036 a0003c0006t0006g0205 a0003c0023t0007g0130 a0010c0016t0002g0135 a0010c0016t0002g0190	10	274	0.0365	0	c.176 others(6): Show c.1762+6C>T		CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	11/23					chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76479537	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18991.hp1 NA18991.hp1	a0022 a0022	a0022c0025 a0022c0025	a0022c0025t0002 a0022c0025t0002	a0022c0025t0002g0110 a0022c0025t0002g0110	1	274	0.0037	0	c.188 others(4): Show c.1881C>G	p.Thr others(6): Show p.Thr627Thr	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	12/24	2143/6263	1881/3927	627/1308		chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76479538	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18991.hp1 NA18991.hp1	a0022 a0022	a0022c0025 a0022c0025	a0022c0025t0002 a0022c0025t0002	a0022c0025t0002g0110 a0022c0025t0002g0110	1	274	0.0037	0	c.188 others(4): Show c.1882G>C	p.Glu others(6): Show p.Glu628Gln	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	12/24	2144/6263	1882/3927	628/1308		chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124524296	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp2 NA20300.hp1 HG02922.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0022 a0001c0001t0002g0023	2	64	0.0313	0	c.132 others(6): Show c.1328-7C>T		CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	8/23					chr2	TogoVar
CNTRL_chr9_121069955_121182610	121118341	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	330	0.0030	0	c.145 others(6): Show c.1456-5A>G		CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	11/43					chr9	TogoVar
CNTRL_chr9_121069955_121182610	121135981	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0001 a0015c0024t0001	a0015c0024t0001g0031 a0015c0024t0001g0031	1	330	0.0030	0	c.220 others(4): Show c.2201A>G	p.Gln others(6): Show p.Gln734Arg	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	15/44	2518/7719	2201/6978	734/2325		chr9	TogoVar
CNTRL_chr9_121069955_121182610	121145244	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02809.hp2 HG02965.hp1 HG03471.hp2 HG02809.hp2 HG02965.hp1 HG03471.hp2	a0010 a0020 a0010 a0020	a0010c0014 a0020c0034 a0010c0014 a0020c0034	a0010c0014t0001 a0020c0034t0001 a0010c0014t0001 a0020c0034t0001	a0010c0014t0001g0167 a0010c0014t0001g0169 a0020c0034t0001g0168 a0010c0014t0001g0167 a0010c0014t0001g0169 a0020c0034t0001g0168	3	330	0.0091	0	c.316 others(4): Show c.3169T>G	p.Phe others(7): Show p.Phe1057Val	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	22/44	3486/7719	3169/6978	1057/2325		chr9	TogoVar
CNTRL_chr9_121069955_121182610	121164944	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18950.hp1 NA18977.hp1 NA18985.hp1 others(2): Show NA18950.hp1 NA18977.hp1 NA18985.hp1 NA18990.hp1 NA19070.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0062 a0005c0008t0001g0073 a0005c0008t0001g0076 others(2): Show a0005c0008t0001g0062 a0005c0008t0001g0073 a0005c0008t0001g0076 a0005c0008t0001g0077 a0005c0008t0001g0094	5	330	0.0152	0	c.542 others(4): Show c.5425G>T	p.Val others(7): Show p.Val1809Phe	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	35/44	5742/7719	5425/6978	1809/2325		chr9	TogoVar
CNTROB_chr17_7927206_7954920	7944465	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18942.hp1 NA18967.hp1 NA19087.hp2 NA18942.hp1 NA18967.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0119	3	402	0.0075	-1	c.157 others(7): Show c.1572-8delT		CNTROB	ENSG00000170037.14	transcript	ENST00000563694.6	protein_coding	11/18				INFO_REALIGN_3_PRIME	chr17	TogoVar
CNTROB_chr17_7927206_7954920	7944637	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(251): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0008 others(4): Show a0001 a0007 a0008 a0009 a0012 a0014 a0015	a0001c0001 a0001c0012 a0001c0014 others(7): Show a0001c0001 a0001c0012 a0001c0014 a0001c0016 a0007c0008 a0008c0009 a0009c0019 a0012c0013 a0014c0017 a0015c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0012t0001 a0001c0014t0001 a0001c0016t0005 a0007c0008t0007 a0008c0009t0006 a0009c0019t0004 a0012c0013t0001 a0014c0017t0001 a0015c0015t0006	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(130): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0004g0007 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0047 a0001c0001t0004g0163 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0005g0003 a0001c0001t0005g0006 a0001c0001t0005g0187 a0001c0001t0006g0026 a0001c0001t0006g0046 a0001c0001t0006g0157 a0001c0001t0006g0161 a0001c0001t0008g0002 a0001c0001t0009g0099 a0001c0012t0001g0037 a0001c0014t0001g0009 a0001c0016t0005g0051 a0007c0008t0007g0188 a0007c0008t0007g0189 a0008c0009t0006g0026 a0009c0019t0004g0166 a0012c0013t0001g0159 a0014c0017t0001g0154 a0015c0015t0006g0135	254	402	0.6318	0	c.173 others(4): Show c.1733C>A	p.Pro others(6): Show p.Pro578Gln	CNTROB	ENSG00000170037.14	transcript	ENST00000563694.6	protein_coding	12/19	2607/3996	1733/2712	578/903		chr17	TogoVar
COA1_chr7_43634257_43734523	43729430	T T	C C	splice_region_variant splice_region_variant	LOW	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0378 a0001c0001t0005g0378	1	384	0.0026	0	c.-40 others(3): Show c.-40A>G		COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/6					chr7	TogoVar
COA4_chr11_73867667_73881846	73873393	G G	C C	splice_region_variant splice_region_variant	LOW	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0021	1	394	0.0025	0	c.-15 others(3): Show c.-15C>G		COA4	ENSG00000181924.7	transcript	ENST00000355693.5	protein_coding	2/2					chr11	TogoVar
COA6_chr1_234368456_234390080	234374226	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG00741.hp1 HG01081.hp1 others(42): Show HG00438.hp2 HG00741.hp1 HG01081.hp1 HG01167.hp2 HG01257.hp1 HG01258.hp2 HG01975.hp2 HG02109.hp2 HG02145.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03942.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18964.hp2 NA18975.hp2 NA19043.hp1 NA19064.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 others(21): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0002g0033 a0001c0001t0007g0006 a0001c0001t0011g0006	45	406	0.1108	0	c.213 others(5): Show c.213-4A>G		COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	1/2					chr1	TogoVar
COA6_chr1_234368456_234390080	234383706	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(239): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 a0004c0005t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(111): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0055 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0003g0047 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0007g0006 a0001c0001t0009g0015 a0001c0001t0010g0084 a0001c0001t0011g0006 a0002c0002t0001g0157 a0002c0002t0002g0138 a0002c0002t0002g0148 a0003c0003t0002g0002 a0003c0003t0002g0080 a0004c0005t0002g0002	242	406	0.5961	1	c.373 others(6): Show c.373-8dupT		COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2				INFO_REALIGN_3_PRIME	chr1	TogoVar
COA6_chr1_234368456_234390080	234385080	A A	G G	splice_region_variant splice_region_variant	LOW	HG02109.hp2 HG03704.hp1 HG02109.hp2 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0008 a0001c0001t0007 a0002c0002t0008	a0001c0001t0007g0006 a0002c0002t0008g0012 a0001c0001t0007g0006 a0002c0002t0008g0012	2	406	0.0049	0	c.12 others(5): Show c.1262A>G		COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	3/3					chr1	TogoVar
COA8_chr14_103557960_103595896	103574078	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG01071.hp1 HG01256.hp2 others(26): Show HG00280.hp1 HG01071.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01515.hp1 HG01928.hp1 HG01981.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02615.hp1 HG02818.hp2 HG03017.hp1 HG03490.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 NA18970.hp1 NA18974.hp2 NA18975.hp1 NA18982.hp1 NA18997.hp1 NA19009.hp1 NA19066.hp1 NA19079.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 a0001c0001t0001 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0264 others(26): Show a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0305 a0001c0009t0001g0265 a0002c0002t0001g0107 a0002c0002t0001g0111 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0148 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170	29	382	0.0759	1	c.322 others(6): Show c.322-4dupT		COA8	ENSG00000256053.9	transcript	ENST00000409074.8	protein_coding	2/4				INFO_REALIGN_3_PRIME	chr14	TogoVar
COA8_chr14_103557960_103595896	103574078	C C	CTT CTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00423.hp2 HG00741.hp2 others(61): Show HG00140.hp2 HG00423.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01517.hp1 HG01891.hp1 HG02109.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02683.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03927.hp1 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18941.hp2 NA18947.hp1 NA18948.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18968.hp2 NA18988.hp1 NA18998.hp2 NA19006.hp1 NA19009.hp2 NA19030.hp1 NA19062.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0001 a0002c0002t0004 a0001c0001t0006 a0002c0002t0001 a0002c0002t0004	a0001c0001t0006g0106 a0002c0002t0001g0003 a0002c0002t0001g0006 others(50): Show a0001c0001t0006g0106 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0338 a0002c0002t0004g0140 a0002c0002t0004g0141 a0002c0002t0004g0153	64	382	0.1675	2	c.322 others(13): Show c.322-5_322-4dupTT		COA8	ENSG00000256053.9	transcript	ENST00000409074.8	protein_coding	2/4				INFO_REALIGN_3_PRIME	chr14	TogoVar
COA8_chr14_103557960_103595896	103574078	C C	CTTT CTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp1 HG01175.hp2 NA18945.hp2 others(4): Show HG01081.hp1 HG01175.hp2 NA18945.hp2 NA18995.hp2 NA19054.hp2 NA19065.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0113 a0002c0002t0001g0137 others(4): Show a0002c0002t0001g0109 a0002c0002t0001g0113 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0147 a0002c0002t0001g0152 a0002c0002t0001g0177	7	382	0.0183	3	c.322 others(14): Show c.322-6_322-4dupTTT		COA8	ENSG00000256053.9	transcript	ENST00000409074.8	protein_coding	2/4				INFO_REALIGN_3_PRIME	chr14	TogoVar
COA8_chr14_103557960_103595896	103574078	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(109): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02145.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18944.hp2 NA18945.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp2 NA18968.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19002.hp1 NA19003.hp2 NA19010.hp1 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19064.hp1 NA19072.hp1 NA19077.hp1 NA19080.hp2 NA19084.hp1 NA19087.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0002c0002 a0003c0004 a0004c0005 a0005c0007	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0010t0001 a0002c0002t0001 a0003c0004t0002 a0004c0005t0001 a0004c0005t0005 a0005c0007t0003	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0181 others(92): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0324 a0001c0001t0001g0328 a0001c0003t0001g0001 a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0080 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0091 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0097 a0001c0003t0001g0340 a0001c0006t0001g0078 a0001c0006t0001g0081 a0001c0010t0001g0184 a0002c0002t0001g0156 a0003c0004t0002g0099 a0004c0005t0001g0323 a0004c0005t0001g0325 a0004c0005t0001g0329 a0004c0005t0001g0330 a0004c0005t0001g0331 a0004c0005t0001g0332 a0004c0005t0001g0333 a0004c0005t0001g0336 a0004c0005t0001g0337 a0004c0005t0005g0334 a0005c0007t0003g0186	112	382	0.2932	-1	c.322 others(6): Show c.322-4delT		COA8	ENSG00000256053.9	transcript	ENST00000409074.8	protein_coding	2/4				INFO_REALIGN_3_PRIME	chr14	TogoVar
COA8_chr14_103557960_103595896	103574078	CTT CTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(10): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG01169.hp1 HG01993.hp1 HG02004.hp2 HG02300.hp2 HG02965.hp2 NA18961.hp2 NA19057.hp1 NA19084.hp2 NA19089.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0006 a0004c0005 a0001c0003 a0001c0006 a0004c0005	a0001c0003t0001 a0001c0006t0001 a0004c0005t0001 a0001c0003t0001 a0001c0006t0001 a0004c0005t0001	a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0041 others(10): Show a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0073 a0001c0003t0001g0092 a0001c0003t0001g0096 a0001c0006t0001g0079 a0004c0005t0001g0335	13	382	0.0340	-2	c.322 others(13): Show c.322-5_322-4delTT		COA8	ENSG00000256053.9	transcript	ENST00000409074.8	protein_coding	2/4				INFO_REALIGN_3_PRIME	chr14	TogoVar
COASY_chr17_42557148_42571277	42563962	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0001 a0003c0008t0001g0001	1	394	0.0025	0	c.702 others(3): Show c.702C>A	p.Ser others(6): Show p.Ser234Arg	COASY	ENSG00000068120.15	transcript	ENST00000393818.3	protein_coding	2/9	1177/2479	702/1695	234/564		chr17	TogoVar
COASY_chr17_42557148_42571277	42564576	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19057.hp1 NA19057.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0001 a0004c0011t0001g0001	1	394	0.0025	0	c.104 others(4): Show c.1046A>G	p.Tyr others(6): Show p.Tyr349Cys	COASY	ENSG00000068120.15	transcript	ENST00000393818.3	protein_coding	3/9	1521/2479	1046/1695	349/564		chr17	TogoVar
COASY_chr17_42557148_42571277	42565318	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19055.hp2 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	394	0.0025	0	c.138 others(6): Show c.1387+7G>T		COASY	ENSG00000068120.15	transcript	ENST00000393818.3	protein_coding	6/8					chr17	TogoVar
COASY_chr17_42557148_42571277	42565654	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00735.hp2 HG01358.hp1 others(4): Show HG00323.hp2 HG00735.hp2 HG01358.hp1 HG02004.hp1 HG02683.hp1 HG02735.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	7	394	0.0178	0	c.148 others(6): Show c.1486-5C>G		COASY	ENSG00000068120.15	transcript	ENST00000393818.3	protein_coding	7/8					chr17	TogoVar
COBLL1_chr2_164675188_164846823	164695843	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG01069.hp2 HG01071.hp1 others(26): Show HG00639.hp1 HG01069.hp2 HG01071.hp1 HG01175.hp1 HG01255.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG03471.hp1 HG03927.hp2 HG04184.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0030 a0014c0031	a0001c0001t0018 a0001c0001t0033 a0001c0002t0013 others(9): Show a0001c0001t0018 a0001c0001t0033 a0001c0002t0013 a0001c0002t0034 a0001c0002t0051 a0002c0003t0003 a0002c0003t0023 a0002c0003t0024 a0002c0003t0053 a0002c0003t0054 a0002c0030t0022 a0014c0031t0022	a0001c0001t0018g0167 a0001c0001t0018g0168 a0001c0001t0033g0052 others(25): Show a0001c0001t0018g0167 a0001c0001t0018g0168 a0001c0001t0033g0052 a0001c0002t0013g0028 a0001c0002t0013g0053 a0001c0002t0013g0182 a0001c0002t0034g0034 a0001c0002t0051g0003 a0002c0003t0003g0025 a0002c0003t0003g0073 a0002c0003t0003g0075 a0002c0003t0003g0076 a0002c0003t0003g0077 a0002c0003t0003g0078 a0002c0003t0003g0079 a0002c0003t0003g0096 a0002c0003t0003g0097 a0002c0003t0003g0099 a0002c0003t0003g0100 a0002c0003t0003g0102 a0002c0003t0003g0104 a0002c0003t0023g0001 a0002c0003t0024g0101 a0002c0003t0024g0130 a0002c0003t0053g0031 a0002c0003t0054g0169 a0002c0030t0022g0172 a0014c0031t0022g0181	29	212	0.1368	-1	c.155 others(7): Show c.1556-8delT		COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	11/13					chr2	TogoVar
COBLL1_chr2_164675188_164846823	164722071	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(157): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18946.hp2 NA18955.hp1 NA18955.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18995.hp1 NA18995.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19079.hp1 NA19079.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0013 a0014 a0015 a0016 a0017 a0019 a0020 a0021	a0001c0001 a0001c0002 a0001c0010 others(24): Show a0001c0001 a0001c0002 a0001c0010 a0001c0012 a0001c0015 a0001c0016 a0001c0025 a0001c0033 a0002c0003 a0002c0030 a0003c0004 a0003c0007 a0004c0005 a0004c0032 a0005c0006 a0005c0029 a0008c0011 a0009c0034 a0010c0027 a0013c0021 a0014c0031 a0015c0028 a0016c0017 a0017c0019 a0019c0014 a0020c0026 a0021c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(64): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0029 a0001c0001t0033 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0050 a0001c0001t0056 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0019 a0001c0002t0021 a0001c0002t0034 a0001c0002t0046 a0001c0002t0049 a0001c0002t0051 a0001c0002t0055 a0001c0002t0057 a0001c0002t0058 a0001c0002t0060 a0001c0002t0062 a0001c0010t0047 a0001c0010t0048 a0001c0012t0001 a0001c0015t0052 a0001c0016t0030 a0001c0025t0037 a0001c0033t0008 a0002c0003t0003 a0002c0003t0023 a0002c0003t0024 a0002c0003t0053 a0002c0030t0022 a0003c0004t0006 a0003c0004t0014 a0003c0007t0006 a0003c0007t0061 a0004c0005t0009 a0004c0005t0015 a0004c0032t0001 a0005c0006t0001 a0005c0029t0016 a0008c0011t0025 a0009c0034t0032 a0010c0027t0010 a0013c0021t0001 a0014c0031t0022 a0015c0028t0016 a0016c0017t0041 a0017c0019t0001 a0019c0014t0059 a0020c0026t0008 a0021c0013t0002	a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0030 others(155): Show a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0074 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0007g0042 a0001c0001t0007g0055 a0001c0001t0007g0210 a0001c0001t0011g0195 a0001c0001t0011g0196 a0001c0001t0017g0206 a0001c0001t0017g0208 a0001c0001t0018g0167 a0001c0001t0018g0168 a0001c0001t0020g0106 a0001c0001t0029g0179 a0001c0001t0033g0052 a0001c0001t0035g0029 a0001c0001t0038g0207 a0001c0001t0039g0027 a0001c0001t0040g0082 a0001c0001t0050g0020 a0001c0001t0056g0032 a0001c0002t0001g0044 a0001c0002t0001g0051 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0202 a0001c0002t0002g0165 a0001c0002t0002g0174 a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0098 a0001c0002t0004g0186 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0191 a0001c0002t0005g0133 a0001c0002t0005g0134 a0001c0002t0005g0135 a0001c0002t0005g0136 a0001c0002t0005g0158 a0001c0002t0008g0175 a0001c0002t0008g0176 a0001c0002t0008g0177 a0001c0002t0010g0017 a0001c0002t0010g0018 a0001c0002t0010g0178 a0001c0002t0011g0187 a0001c0002t0011g0201 a0001c0002t0013g0028 a0001c0002t0013g0053 a0001c0002t0013g0182 a0001c0002t0019g0152 a0001c0002t0021g0004 a0001c0002t0021g0006 a0001c0002t0034g0034 a0001c0002t0046g0016 a0001c0002t0049g0005 a0001c0002t0051g0003 a0001c0002t0055g0144 a0001c0002t0057g0183 a0001c0002t0058g0164 a0001c0002t0060g0162 a0001c0002t0062g0023 a0001c0010t0047g0040 a0001c0010t0048g0185 a0001c0012t0001g0014 a0001c0015t0052g0081 a0001c0016t0030g0041 a0001c0025t0037g0069 a0001c0033t0008g0180 a0002c0003t0003g0025 a0002c0003t0003g0073 a0002c0003t0003g0075 a0002c0003t0003g0076 a0002c0003t0003g0077 a0002c0003t0003g0078 a0002c0003t0003g0079 a0002c0003t0003g0096 a0002c0003t0003g0097 a0002c0003t0003g0099 a0002c0003t0003g0100 a0002c0003t0003g0102 a0002c0003t0003g0104 a0002c0003t0023g0001 a0002c0003t0024g0101 a0002c0003t0024g0130 a0002c0003t0053g0031 a0002c0030t0022g0172 a0003c0004t0006g0062 a0003c0004t0006g0064 a0003c0004t0006g0065 a0003c0004t0006g0067 a0003c0004t0014g0059 a0003c0004t0014g0072 a0003c0007t0006g0048 a0003c0007t0006g0050 a0003c0007t0061g0049 a0004c0005t0009g0197 a0004c0005t0009g0198 a0004c0005t0009g0199 a0004c0005t0009g0200 a0004c0005t0015g0110 a0004c0005t0015g0184 a0004c0032t0001g0163 a0005c0006t0001g0002 a0005c0006t0001g0204 a0005c0029t0016g0203 a0008c0011t0025g0011 a0008c0011t0025g0012 a0009c0034t0032g0024 a0010c0027t0010g0166 a0013c0021t0001g0161 a0014c0031t0022g0181 a0015c0028t0016g0205 a0016c0017t0041g0107 a0017c0019t0001g0086 a0019c0014t0059g0114 a0020c0026t0008g0033 a0021c0013t0002g0116	160	212	0.7547	0	c.996 others(5): Show c.996+4T>C		COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	7/13					chr2	TogoVar
COBLL1_chr2_164675188_164846823	164722317	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	212	0.0047	0	c.760 others(5): Show c.760-6T>C		COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	6/13					chr2	TogoVar
COBLL1_chr2_164675188_164846823	164841156	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02056.hp2 NA18963.hp1 HG02056.hp2 NA18963.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0009 a0006c0008t0001g0010 a0006c0008t0001g0009 a0006c0008t0001g0010	2	212	0.0094	0	c.41G others(2): Show c.41G>A	p.Arg others(5): Show p.Arg14Lys	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/14	205/9309	41/3387	14/1128		chr2	TogoVar
COBL_chr7_51011212_51321809	51017576	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0174 a0002c0007t0001g0174	1	230	0.0044	0	c.376 others(6): Show c.3769-8C>T		COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12					chr7	TogoVar
COCH_chr14_30869559_30895618	30889618	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19089.hp1 NA19089.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0324 a0007c0009t0001g0324	1	478	0.0021	0	c.148 others(4): Show c.1480A>T	p.Ile others(6): Show p.Ile494Phe	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding	12/12	1536/2536	1480/1653	494/550		chr14	TogoVar
COG2_chr1_230637481_230698982	230693981	CA CA	C C	splice_region_variant splice_region_variant	LOW	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(119): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02523.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03098.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18974.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0002 a0001c0020 a0002c0023 others(3): Show a0001c0002 a0001c0020 a0002c0023 a0003c0008 a0004c0007 a0008c0011	a0001c0002t0003 a0001c0002t0004 a0001c0020t0004 others(4): Show a0001c0002t0003 a0001c0002t0004 a0001c0020t0004 a0002c0023t0003 a0003c0008t0003 a0004c0007t0003 a0008c0011t0003	a0001c0002t0003g0003 a0001c0002t0003g0007 a0001c0002t0003g0021 others(85): Show a0001c0002t0003g0003 a0001c0002t0003g0007 a0001c0002t0003g0021 a0001c0002t0003g0027 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0033 a0001c0002t0003g0045 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0059 a0001c0002t0003g0064 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0122 a0001c0002t0003g0125 a0001c0002t0003g0130 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0217 a0001c0002t0003g0220 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0234 a0001c0002t0003g0237 a0001c0002t0003g0240 a0001c0002t0003g0277 a0001c0002t0004g0002 a0001c0002t0004g0006 a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0021 a0001c0002t0004g0040 a0001c0002t0004g0123 a0001c0002t0004g0126 a0001c0002t0004g0128 a0001c0002t0004g0144 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0151 a0001c0002t0004g0152 a0001c0002t0004g0153 a0001c0002t0004g0154 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0162 a0001c0002t0004g0163 a0001c0002t0004g0166 a0001c0002t0004g0167 a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0004g0172 a0001c0002t0004g0176 a0001c0002t0004g0177 a0001c0002t0004g0195 a0001c0002t0004g0196 a0001c0002t0004g0204 a0001c0002t0004g0205 a0001c0002t0004g0206 a0001c0002t0004g0242 a0001c0002t0004g0246 a0001c0002t0004g0247 a0001c0002t0004g0280 a0001c0020t0004g0203 a0002c0023t0003g0111 a0003c0008t0003g0050 a0004c0007t0003g0251 a0004c0007t0003g0256 a0004c0007t0003g0264 a0004c0007t0003g0265 a0004c0007t0003g0268 a0008c0011t0003g0089	122	406	0.3005	-1	c.58 others(5): Show c.589delA		COG2	ENSG00000135775.14	transcript	ENST00000366669.9	protein_coding	18/18					chr1	TogoVar
COG3_chr13_45459939_45541701	45481232	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0128 a0001c0010t0001g0128	1	342	0.0029	0	c.552 others(3): Show c.552G>A	p.Ser others(6): Show p.Ser184Ser	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	5/23	650/4555	552/2487	184/828		chr13	TogoVar
COG3_chr13_45459939_45541701	45503246	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(307): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0008 others(13): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0002c0003 a0002c0005 a0002c0007 a0002c0012 a0002c0016 a0003c0006 a0005c0019 a0006c0018 a0007c0017	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(24): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0007 a0001c0002t0009 a0001c0008t0001 a0001c0010t0001 a0001c0011t0001 a0001c0013t0004 a0001c0014t0001 a0002c0003t0002 a0002c0005t0001 a0002c0005t0003 a0002c0005t0011 a0002c0005t0012 a0002c0005t0013 a0002c0005t0014 a0002c0007t0002 a0002c0012t0001 a0002c0016t0003 a0003c0006t0004 a0003c0006t0015 a0005c0019t0001 a0006c0018t0001 a0007c0017t0001	a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0041 others(300): Show a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0239 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0006g0064 a0001c0001t0008g0051 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0007g0305 a0001c0002t0009g0279 a0001c0008t0001g0042 a0001c0008t0001g0121 a0001c0010t0001g0128 a0001c0011t0001g0246 a0001c0013t0004g0194 a0001c0014t0001g0261 a0002c0003t0002g0005 a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0144 a0002c0003t0002g0160 a0002c0003t0002g0161 a0002c0003t0002g0162 a0002c0003t0002g0163 a0002c0003t0002g0164 a0002c0003t0002g0165 a0002c0003t0002g0166 a0002c0003t0002g0167 a0002c0003t0002g0168 a0002c0003t0002g0169 a0002c0003t0002g0170 a0002c0003t0002g0171 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0174 a0002c0003t0002g0175 a0002c0003t0002g0176 a0002c0003t0002g0177 a0002c0003t0002g0178 a0002c0003t0002g0179 a0002c0003t0002g0180 a0002c0003t0002g0181 a0002c0003t0002g0182 a0002c0003t0002g0183 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0186 a0002c0003t0002g0187 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0190 a0002c0003t0002g0191 a0002c0003t0002g0202 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0213 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0216 a0002c0003t0002g0217 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0002g0231 a0002c0003t0002g0233 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0236 a0002c0003t0002g0237 a0002c0003t0002g0238 a0002c0003t0002g0240 a0002c0005t0001g0313 a0002c0005t0003g0004 a0002c0005t0003g0010 a0002c0005t0003g0151 a0002c0005t0003g0152 a0002c0005t0003g0153 a0002c0005t0003g0155 a0002c0005t0003g0157 a0002c0005t0003g0158 a0002c0005t0003g0159 a0002c0005t0003g0192 a0002c0005t0011g0150 a0002c0005t0012g0148 a0002c0005t0013g0154 a0002c0005t0014g0206 a0002c0007t0002g0223 a0002c0007t0002g0224 a0002c0007t0002g0225 a0002c0007t0002g0226 a0002c0007t0002g0227 a0002c0007t0002g0228 a0002c0007t0002g0232 a0002c0012t0001g0103 a0002c0016t0003g0156 a0003c0006t0004g0193 a0003c0006t0004g0195 a0003c0006t0004g0196 a0003c0006t0004g0197 a0003c0006t0004g0198 a0003c0006t0004g0199 a0003c0006t0004g0201 a0003c0006t0015g0200 a0005c0019t0001g0070 a0006c0018t0001g0309 a0007c0017t0001g0285	310	342	0.9064	0	c.149 others(4): Show c.1491G>A	p.Gln others(6): Show p.Gln497Gln	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	14/23	1589/4555	1491/2487	497/828		chr13	TogoVar
COG3_chr13_45459939_45541701	45524972	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp1 HG03471.hp2 HG02723.hp1 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0010 a0002c0005t0003g0192 a0002c0005t0003g0010 a0002c0005t0003g0192	2	342	0.0059	0	c.215 others(6): Show c.2155-4T>C		COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	19/22					chr13	TogoVar
COG4_chr16_70475571_70528554	70500950	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG02109.hp1 HG02280.hp2 others(7): Show HG01891.hp1 HG02109.hp1 HG02280.hp2 HG02451.hp2 HG02886.hp2 HG02922.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 others(7): Show a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0032	10	354	0.0283	0	c.119 others(6): Show c.1195+8C>T		COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	9/18					chr16	TogoVar
COG6_chr13_39650662_39757628	39724483	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(217): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0006 a0001c0011 others(7): Show a0001c0001 a0001c0006 a0001c0011 a0001c0012 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0008 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0006t0003 a0001c0011t0003 a0001c0012t0003 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0003c0003t0001 a0004c0004t0007 a0005c0005t0003 a0006c0008t0003 a0007c0009t0010	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(204): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0126 a0001c0001t0003g0189 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0203 a0001c0001t0003g0207 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0004g0196 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0209 a0001c0001t0012g0183 a0001c0001t0013g0133 a0001c0001t0014g0169 a0001c0001t0015g0202 a0001c0006t0003g0040 a0001c0006t0003g0041 a0001c0011t0003g0210 a0001c0012t0003g0073 a0002c0002t0003g0224 a0002c0002t0003g0227 a0002c0002t0003g0228 a0002c0002t0003g0229 a0002c0002t0005g0217 a0002c0002t0005g0218 a0002c0002t0005g0219 a0002c0002t0005g0220 a0002c0002t0006g0231 a0002c0002t0006g0233 a0002c0002t0006g0320 a0002c0002t0006g0321 a0002c0002t0006g0348 a0002c0002t0007g0306 a0002c0002t0007g0330 a0002c0002t0007g0332 a0002c0002t0007g0355 a0002c0002t0010g0223 a0002c0002t0011g0012 a0003c0003t0001g0097 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0177 a0004c0004t0007g0253 a0005c0005t0003g0015 a0005c0005t0003g0016 a0005c0005t0003g0017 a0006c0008t0003g0226 a0007c0009t0010g0222	220	370	0.5946	-1	c.169 others(7): Show c.1693-7delT		COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	16/18				INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39724501	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(135): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03540.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18982.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0002c0002 a0002c0007 others(2): Show a0001c0001 a0002c0002 a0002c0007 a0004c0004 a0008c0010	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0007t0002 a0004c0004t0002 a0008c0010t0002	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(134): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0158 a0001c0001t0004g0049 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0091 a0001c0001t0004g0102 a0001c0001t0004g0104 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0206 a0002c0002t0002g0011 a0002c0002t0002g0230 a0002c0002t0002g0232 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0293 a0002c0002t0002g0294 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0331 a0002c0002t0002g0333 a0002c0002t0002g0334 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0339 a0002c0002t0002g0340 a0002c0002t0002g0342 a0002c0002t0002g0343 a0002c0002t0002g0344 a0002c0002t0002g0345 a0002c0002t0002g0346 a0002c0002t0002g0349 a0002c0002t0002g0350 a0002c0002t0002g0351 a0002c0002t0002g0352 a0002c0002t0002g0353 a0002c0002t0002g0354 a0002c0002t0002g0356 a0002c0002t0004g0215 a0002c0002t0004g0216 a0002c0002t0004g0221 a0002c0002t0004g0225 a0002c0002t0004g0263 a0002c0002t0004g0347 a0002c0002t0006g0292 a0002c0002t0006g0302 a0002c0002t0006g0326 a0002c0002t0008g0241 a0002c0002t0008g0242 a0002c0002t0008g0243 a0002c0002t0008g0335 a0002c0002t0009g0276 a0002c0002t0009g0277 a0002c0002t0009g0278 a0002c0007t0002g0300 a0004c0004t0002g0254 a0004c0004t0002g0255 a0004c0004t0002g0256 a0008c0010t0002g0247	138	370	0.3730	-1	c.169 others(7): Show c.1693-4delA		COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	16/18				INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39724502	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0236 a0002c0002t0002g0236	1	370	0.0027	0	c.169 others(6): Show c.1693-6A>T		COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	16/18					chr13	TogoVar
COG7_chr16_23383493_23458189	23445164	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0135 a0003c0005t0003g0135	1	272	0.0037	0	c.319 others(3): Show c.319G>A	p.Val others(6): Show p.Val107Met	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	3/17	514/2935	319/2313	107/770		chr16	TogoVar

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