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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Select column to sort.

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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
CPB1_chr3_148822811_148865187	148844773	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01433.hp1 HG01891.hp2 HG02145.hp2 others(9): Show HG01433.hp1 HG01891.hp2 HG02145.hp2 HG02257.hp2 HG02615.hp2 HG02723.hp2 HG02922.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0043 others(8): Show a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0097 a0001c0001t0001g0188 a0001c0001t0001g0202 a0001c0001t0001g0396 a0001c0001t0001g0410 a0001c0001t0001g0411 a0001c0001t0001g0412	12	456	0.0263	0	c.778 others(5): Show c.778+6T>C		CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	8/10					chr3	TogoVar
CPD_chr17_30373927_30474989	30427563	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	296	0.0034	0	c.201 others(6): Show c.2017+5G>A		CPD	ENSG00000108582.12	transcript	ENST00000225719.9	protein_coding	7/20					chr17	TogoVar
CPEB4_chr5_173883349_173966980	173949503	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(85): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01070.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02647.hp1 HG02735.hp1 HG02809.hp1 HG03041.hp2 HG03139.hp1 HG03486.hp1 HG03516.hp1 HG03669.hp2 HG03688.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18946.hp2 NA18949.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp2 NA18961.hp1 NA18970.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18987.hp2 NA18992.hp1 NA18997.hp2 NA18998.hp1 NA19002.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19054.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0032 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 others(72): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0322 a0001c0001t0006g0085 a0001c0001t0006g0122 a0001c0001t0006g0123 a0001c0001t0006g0124 a0001c0001t0006g0129 a0001c0001t0006g0133 a0001c0001t0012g0004 a0001c0001t0012g0100 a0001c0001t0016g0048 a0001c0001t0016g0067 a0001c0001t0020g0015 a0001c0001t0032g0125 a0001c0001t0041g0112 a0001c0001t0042g0004 a0001c0001t0043g0144 a0001c0001t0044g0136 a0001c0001t0045g0149	88	372	0.2366	0	c.145 others(6): Show c.1457-5A>G		CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding	5/9					chr5	TogoVar
CPED1_chr7_120983711_121302442	121064235	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(124): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.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 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01975.hp1 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.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 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18952.hp1 NA18952.hp2 NA18979.hp2 NA18998.hp1 NA18998.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19075.hp1 NA19075.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0007 others(14): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0015 a0002c0002 a0002c0004 a0002c0017 a0003c0005 a0003c0006 a0003c0016 a0004c0009 a0004c0013 a0005c0011 a0005c0012 a0006c0010 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0013 a0001c0007t0001 a0001c0007t0006 a0001c0008t0001 a0001c0008t0006 a0001c0015t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0002c0004t0001 a0002c0004t0002 a0002c0017t0001 a0003c0005t0001 a0003c0005t0003 a0003c0006t0001 a0003c0016t0005 a0004c0009t0001 a0004c0013t0006 a0005c0011t0001 a0005c0012t0001 a0006c0010t0002 a0007c0014t0002	a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0056 others(124): Show a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0122 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0004g0032 a0001c0001t0004g0041 a0001c0001t0004g0064 a0001c0001t0004g0077 a0001c0001t0005g0003 a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0124 a0001c0001t0010g0121 a0001c0001t0012g0130 a0001c0003t0001g0027 a0001c0003t0001g0031 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0126 a0001c0003t0002g0028 a0001c0003t0002g0125 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0008g0030 a0001c0003t0008g0045 a0001c0003t0013g0009 a0001c0007t0001g0108 a0001c0007t0006g0107 a0001c0008t0001g0054 a0001c0008t0006g0053 a0001c0015t0002g0123 a0002c0002t0001g0036 a0002c0002t0001g0055 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0080 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0105 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0140 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0069 a0002c0002t0002g0084 a0002c0002t0002g0097 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0137 a0002c0002t0002g0139 a0002c0002t0003g0002 a0002c0002t0003g0014 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0004g0116 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0135 a0002c0002t0005g0005 a0002c0002t0005g0006 a0002c0002t0005g0007 a0002c0002t0011g0136 a0002c0004t0001g0114 a0002c0004t0002g0044 a0002c0004t0002g0110 a0002c0004t0002g0112 a0002c0004t0002g0113 a0002c0004t0002g0119 a0002c0017t0001g0091 a0003c0005t0001g0046 a0003c0005t0003g0016 a0003c0005t0003g0017 a0003c0006t0001g0039 a0003c0006t0001g0040 a0003c0006t0001g0115 a0003c0016t0005g0015 a0004c0009t0001g0029 a0004c0009t0001g0050 a0004c0013t0006g0035 a0005c0011t0001g0052 a0005c0012t0001g0079 a0006c0010t0002g0111 a0007c0014t0002g0072	127	140	0.9071	0	c.541 others(5): Show c.541-3C>T		CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22					chr7	TogoVar
CPED1_chr7_120983711_121302442	121099908	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00558.hp2 HG00639.hp1 others(18): Show HG00408.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG01106.hp2 HG01257.hp1 HG01361.hp1 HG02056.hp1 HG02109.hp1 HG02280.hp1 HG02572.hp1 HG02723.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp2 HG04115.hp2 HG04184.hp1 NA18952.hp2 NA19075.hp2 NA20752.hp1 NA21309.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0003 a0004c0009 others(1): Show a0001c0001 a0001c0003 a0004c0009 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0004c0009t0001 a0007c0014t0002	a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0085 others(18): Show a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0138 a0001c0001t0003g0010 a0001c0001t0004g0032 a0001c0001t0004g0041 a0001c0001t0004g0064 a0001c0001t0004g0077 a0001c0001t0005g0003 a0001c0003t0001g0027 a0001c0003t0002g0028 a0004c0009t0001g0029 a0007c0014t0002g0072	21	140	0.1500	-1	c.750 others(6): Show c.750-3delT		CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	6/22				INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121099908	GTT GTT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00558.hp1 HG00621.hp1 others(99): Show HG00408.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01975.hp1 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.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 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18952.hp1 NA18979.hp2 NA18998.hp1 NA18998.hp2 NA19030.hp2 NA19043.hp2 NA19075.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0007 others(12): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0015 a0002c0002 a0002c0004 a0002c0017 a0003c0005 a0003c0006 a0003c0016 a0004c0013 a0005c0011 a0005c0012 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0013 a0001c0007t0001 a0001c0007t0006 a0001c0008t0001 a0001c0008t0006 a0001c0015t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0002c0004t0001 a0002c0004t0002 a0002c0017t0001 a0003c0005t0001 a0003c0006t0001 a0003c0016t0005 a0004c0013t0006 a0005c0011t0001 a0005c0012t0001 a0006c0010t0002	a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0056 others(99): Show a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0122 a0001c0001t0002g0132 a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0124 a0001c0001t0010g0121 a0001c0001t0012g0130 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0081 a0001c0003t0001g0126 a0001c0003t0002g0125 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0008g0030 a0001c0003t0008g0045 a0001c0003t0013g0009 a0001c0007t0001g0108 a0001c0007t0006g0107 a0001c0008t0001g0054 a0001c0008t0006g0053 a0001c0015t0002g0123 a0002c0002t0001g0036 a0002c0002t0001g0055 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0080 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0105 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0140 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0069 a0002c0002t0002g0084 a0002c0002t0002g0097 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0137 a0002c0002t0002g0139 a0002c0002t0003g0002 a0002c0002t0003g0014 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0004g0116 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0135 a0002c0002t0005g0005 a0002c0002t0005g0006 a0002c0002t0005g0007 a0002c0002t0011g0136 a0002c0004t0001g0114 a0002c0004t0002g0044 a0002c0004t0002g0110 a0002c0004t0002g0112 a0002c0004t0002g0113 a0002c0004t0002g0119 a0002c0017t0001g0091 a0003c0005t0001g0046 a0003c0006t0001g0039 a0003c0006t0001g0040 a0003c0006t0001g0115 a0003c0016t0005g0015 a0004c0013t0006g0035 a0005c0011t0001g0052 a0005c0012t0001g0079 a0006c0010t0002g0111	102	140	0.7286	-2	c.750 others(13): Show c.750-4_750-3delTT		CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	6/22				INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121125900	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00558.hp1 HG00621.hp1 others(51): Show HG00408.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01192.hp1 HG01257.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01975.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03139.hp1 HG03209.hp1 HG03710.hp1 HG04115.hp1 HG04184.hp2 NA18941.hp1 NA18941.hp2 NA18952.hp1 NA18979.hp2 NA18998.hp1 NA18998.hp2 NA19030.hp2 NA19043.hp2 NA19075.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0007 a0001c0008 others(4): Show a0001c0001 a0001c0007 a0001c0008 a0002c0002 a0002c0004 a0002c0017 a0006c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0007t0006 a0001c0008t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0002c0004t0001 a0002c0004t0002 a0002c0017t0001 a0006c0010t0002	a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0005g0018 others(51): Show a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0005g0018 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0124 a0001c0007t0006g0107 a0001c0008t0006g0053 a0002c0002t0001g0036 a0002c0002t0001g0055 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0080 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0105 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0140 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0069 a0002c0002t0002g0084 a0002c0002t0002g0097 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0137 a0002c0002t0002g0139 a0002c0002t0003g0002 a0002c0002t0003g0014 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0004g0116 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0135 a0002c0002t0005g0005 a0002c0002t0005g0006 a0002c0002t0005g0007 a0002c0002t0011g0136 a0002c0004t0001g0114 a0002c0004t0002g0044 a0002c0004t0002g0110 a0002c0004t0002g0112 a0002c0004t0002g0113 a0002c0004t0002g0119 a0002c0017t0001g0091 a0006c0010t0002g0111	54	140	0.3857	0	c.113 others(6): Show c.1134+8T>C		CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	9/22					chr7	TogoVar
CPED1_chr7_120983711_121302442	121133900	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00558.hp1 HG00621.hp2 others(27): Show HG00408.hp2 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01192.hp1 HG01257.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01975.hp1 HG02056.hp2 HG02523.hp1 HG04115.hp1 NA18941.hp1 NA18952.hp1 NA18979.hp2 NA18998.hp2 NA19075.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0017 a0002c0002 a0002c0017	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0017t0001	a0002c0002t0001g0036 a0002c0002t0001g0055 a0002c0002t0001g0073 others(27): Show a0002c0002t0001g0036 a0002c0002t0001g0055 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0080 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0105 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0140 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0069 a0002c0002t0002g0084 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0139 a0002c0002t0003g0002 a0002c0002t0003g0014 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0135 a0002c0017t0001g0091	30	140	0.2143	0	c.164 others(6): Show c.1648+7A>G		CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	13/22					chr7	TogoVar
CPED1_chr7_120983711_121302442	121267212	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp1 HG02486.hp1 HG02572.hp2 others(1): Show HG01070.hp1 HG02486.hp1 HG02572.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0001t0001 a0001c0001t0005 a0001c0003t0001	a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0005g0018 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0005g0018 a0001c0003t0001g0126	4	140	0.0286	0	c.263 others(6): Show c.2634-3C>A		CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	20/22					chr7	TogoVar
CPE_chr4_165374008_165503547	165467861	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp2 HG03098.hp2 NA19240.hp2 HG02922.hp2 HG03098.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168	3	332	0.0090	0	c.672 others(5): Show c.672+6G>A		CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	3/8					chr4	TogoVar
CPLANE1_chr5_37101235_37254376	37138722	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0116 a0001c0031t0001g0116	1	268	0.0037	0	c.879 others(4): Show c.8790C>T	p.Ser others(7): Show p.Ser2930Ser	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	46/53	8969/11302	8790/9756	2930/3251		chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37138851	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02280.hp1 HG02922.hp1 others(4): Show HG02109.hp2 HG02280.hp1 HG02922.hp1 HG03098.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0247 a0006c0005t0002g0248 a0006c0005t0002g0250 others(4): Show a0006c0005t0002g0247 a0006c0005t0002g0248 a0006c0005t0002g0250 a0006c0005t0002g0251 a0006c0005t0002g0252 a0006c0005t0002g0253 a0006c0005t0002g0254	7	268	0.0261	0	c.866 others(6): Show c.8664-3A>T		CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	45/52					chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37139372	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG01069.hp1 HG01081.hp2 others(28): Show HG00642.hp2 HG01069.hp1 HG01081.hp2 HG01099.hp2 HG01257.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01993.hp1 HG02004.hp1 HG02129.hp2 HG02132.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG06807.hp1 NA18979.hp2 NA21309.hp1	a0002 a0004 a0012 others(4): Show a0002 a0004 a0012 a0018 a0019 a0026 a0030	a0002c0002 a0002c0037 a0004c0003 others(5): Show a0002c0002 a0002c0037 a0004c0003 a0012c0018 a0018c0028 a0019c0036 a0026c0024 a0030c0019	a0002c0002t0001 a0002c0002t0014 a0002c0037t0001 others(7): Show a0002c0002t0001 a0002c0002t0014 a0002c0037t0001 a0004c0003t0001 a0004c0003t0012 a0012c0018t0001 a0018c0028t0001 a0019c0036t0001 a0026c0024t0001 a0030c0019t0001	a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0012 others(28): Show a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0014g0013 a0002c0037t0001g0039 a0004c0003t0001g0238 a0004c0003t0001g0239 a0004c0003t0001g0240 a0004c0003t0001g0241 a0004c0003t0001g0246 a0004c0003t0012g0242 a0012c0018t0001g0010 a0012c0018t0001g0036 a0018c0028t0001g0015 a0019c0036t0001g0033 a0026c0024t0001g0030 a0030c0019t0001g0243	31	268	0.1157	-1	c.863 others(7): Show c.8633-3delT		CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	44/52					chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37175989	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG01069.hp1 HG01081.hp2 others(32): Show HG00642.hp2 HG01069.hp1 HG01081.hp2 HG01099.hp2 HG01257.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01993.hp1 HG02004.hp1 HG02129.hp2 HG02132.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG06807.hp1 NA18979.hp2 NA21309.hp1	a0002 a0004 a0012 others(4): Show a0002 a0004 a0012 a0018 a0019 a0026 a0030	a0002c0002 a0002c0037 a0004c0003 others(5): Show a0002c0002 a0002c0037 a0004c0003 a0012c0018 a0018c0028 a0019c0036 a0026c0024 a0030c0019	a0002c0002t0001 a0002c0002t0014 a0002c0037t0001 others(8): Show a0002c0002t0001 a0002c0002t0014 a0002c0037t0001 a0004c0003t0001 a0004c0003t0012 a0004c0003t0013 a0012c0018t0001 a0018c0028t0001 a0019c0036t0001 a0026c0024t0001 a0030c0019t0001	a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0012 others(32): Show a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0014g0013 a0002c0037t0001g0039 a0004c0003t0001g0017 a0004c0003t0001g0018 a0004c0003t0001g0024 a0004c0003t0001g0238 a0004c0003t0001g0239 a0004c0003t0001g0240 a0004c0003t0001g0241 a0004c0003t0001g0246 a0004c0003t0012g0242 a0004c0003t0013g0028 a0012c0018t0001g0010 a0012c0018t0001g0036 a0018c0028t0001g0015 a0019c0036t0001g0033 a0026c0024t0001g0030 a0030c0019t0001g0243	35	268	0.1306	0	c.590 others(6): Show c.5901-3T>C		CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	30/52					chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37177614	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG02055.hp1 HG02109.hp2 others(6): Show HG01243.hp2 HG02055.hp1 HG02109.hp2 HG02280.hp1 HG02922.hp1 HG03098.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1	a0006 a0020 a0006 a0020	a0006c0005 a0020c0035 a0006c0005 a0020c0035	a0006c0005t0002 a0020c0035t0002 a0006c0005t0002 a0020c0035t0002	a0006c0005t0002g0247 a0006c0005t0002g0248 a0006c0005t0002g0249 others(6): Show a0006c0005t0002g0247 a0006c0005t0002g0248 a0006c0005t0002g0249 a0006c0005t0002g0250 a0006c0005t0002g0251 a0006c0005t0002g0252 a0006c0005t0002g0253 a0006c0005t0002g0254 a0020c0035t0002g0148	9	268	0.0336	0	c.590 others(6): Show c.5900+7G>T		CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	30/52					chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37244607	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0030 a0030	a0030c0019 a0030c0019	a0030c0019t0001 a0030c0019t0001	a0030c0019t0001g0243 a0030c0019t0001g0243	1	268	0.0037	0	c.338 others(3): Show c.338C>A	p.Ala others(6): Show p.Ala113Glu	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	5/53	517/11302	338/9756	113/3251		chr5	TogoVar
CPLX1_chr4_779957_831129	792613	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(101): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02976.hp2 HG03195.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18970.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18990.hp2 NA18992.hp2 NA19000.hp2 NA19005.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19068.hp2 NA19074.hp1 NA19081.hp1 NA19082.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0029 a0002c0002t0007	a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0018 others(95): Show a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0036 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0082 a0001c0001t0002g0129 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0175 a0001c0001t0002g0244 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0347 a0001c0001t0002g0351 a0001c0001t0002g0378 a0001c0001t0003g0110 a0001c0001t0006g0035 a0001c0001t0006g0045 a0001c0001t0006g0076 a0001c0001t0006g0077 a0001c0001t0006g0106 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0123 a0001c0001t0006g0155 a0001c0001t0006g0202 a0001c0001t0006g0262 a0001c0001t0006g0266 a0001c0001t0006g0275 a0001c0001t0006g0278 a0001c0001t0006g0291 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0317 a0001c0001t0006g0330 a0001c0001t0006g0331 a0001c0001t0006g0332 a0001c0001t0006g0370 a0001c0001t0006g0377 a0001c0001t0007g0103 a0001c0001t0007g0226 a0001c0001t0008g0053 a0001c0001t0009g0005 a0001c0001t0009g0037 a0001c0001t0009g0058 a0001c0001t0009g0267 a0001c0001t0009g0268 a0001c0001t0009g0277 a0001c0001t0009g0294 a0001c0001t0009g0296 a0001c0001t0009g0297 a0001c0001t0009g0298 a0001c0001t0009g0301 a0001c0001t0009g0303 a0001c0001t0009g0304 a0001c0001t0009g0319 a0001c0001t0009g0329 a0001c0001t0009g0359 a0001c0001t0015g0127 a0001c0001t0015g0302 a0001c0001t0029g0362 a0002c0002t0007g0183	104	416	0.2500	0	c.32- others(4): Show c.32-5A>G		CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding	2/3					chr4	TogoVar
CPLX1_chr4_779957_831129	824605	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	416	0.0024	0	c.-79 others(5): Show c.-79-4C>T		CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding	1/3					chr4	TogoVar
CPLX2_chr5_175866578_175889021	175878903	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0034 a0001c0001t0045g0034	1	378	0.0027	0	c.32- others(4): Show c.32-5C>T		CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding	2/3					chr5	TogoVar
CPLX2_chr5_175866578_175889021	175879068	G G	GCAGATCC others(10): Show GCAGATCCGAGATAAGGT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	378	0.0027	17	c.196 others(26): Show c.196_207+5dupATCCGAGATAAGGTCAG		CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding	3/3				INFO_REALIGN_3_PRIME	chr5	TogoVar
CPLX3_chr15_74821627_74836802	74830132	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01975.hp2 HG02273.hp1 HG02572.hp2 HG01975.hp2 HG02273.hp1 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0010 a0001c0002t0003g0004 a0001c0002t0001g0010 a0001c0002t0003g0004	3	442	0.0068	0	c.255 others(3): Show c.255C>T	p.Asn others(5): Show p.Asn85Asn	CPLX3	ENSG00000213578.6	transcript	ENST00000395018.6	protein_coding	3/3	332/2002	255/477	85/158		chr15	TogoVar
CPM_chr12_68846175_68938171	68933135	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	340	0.0029	0	c.-4+ others(4): Show c.-4+7C>T		CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding	1/8					chr12	TogoVar
CPM_chr12_68846175_68938171	68933144	G G	T T	splice_region_variant splice_region_variant	LOW	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0028 a0002c0003t0028	a0002c0003t0028g0006 a0002c0003t0028g0006	1	340	0.0029	0	c.-6C others(2): Show c.-6C>A		CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding	1/9					chr12	TogoVar
CPN1_chr10_100037193_100086869	100054348	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0176 a0001c0016t0001g0176	1	348	0.0029	0	c.111 others(4): Show c.1110A>G	p.Ser others(6): Show p.Ser370Ser	CPN1	ENSG00000120054.12	transcript	ENST00000370418.8	protein_coding	7/9	1354/1855	1110/1377	370/458		chr10	TogoVar
CPN1_chr10_100037193_100086869	100081396	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(311): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.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 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0003c0010 a0004c0011 a0005c0015 a0006c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0013t0001 a0001c0014t0001 a0001c0016t0001 a0001c0017t0001 a0003c0010t0001 a0004c0011t0001 a0005c0015t0001 a0006c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(245): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0074 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0004g0048 a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0027 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0165 a0001c0002t0001g0243 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0047 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0079 a0001c0003t0002g0069 a0001c0003t0002g0075 a0001c0003t0002g0083 a0001c0003t0002g0084 a0001c0005t0001g0039 a0001c0005t0001g0040 a0001c0005t0001g0041 a0001c0005t0001g0042 a0001c0005t0001g0043 a0001c0005t0001g0045 a0001c0005t0001g0105 a0001c0007t0001g0015 a0001c0007t0001g0046 a0001c0007t0001g0066 a0001c0007t0001g0067 a0001c0007t0001g0070 a0001c0008t0001g0044 a0001c0008t0001g0062 a0001c0008t0001g0063 a0001c0008t0001g0064 a0001c0008t0001g0065 a0001c0009t0001g0177 a0001c0009t0001g0183 a0001c0013t0001g0160 a0001c0014t0001g0078 a0001c0016t0001g0176 a0001c0017t0001g0272 a0003c0010t0001g0037 a0004c0011t0001g0087 a0005c0015t0001g0162 a0006c0018t0001g0273	314	348	0.9023	0	c.223 others(5): Show c.223+7T>C		CPN1	ENSG00000120054.12	transcript	ENST00000370418.8	protein_coding	1/8					chr10	TogoVar
CPNE1_chr20_35621044_35669900	35626801	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01496.hp1 HG01975.hp2 HG01496.hp1 HG01975.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0157 a0001c0008t0001g0171 a0001c0008t0001g0157 a0001c0008t0001g0171	2	272	0.0074	0	c.123 others(4): Show c.1239A>G	p.Gln others(6): Show p.Gln413Gln	CPNE1	ENSG00000214078.13	transcript	ENST00000397443.7	protein_coding	15/16	1380/1952	1239/1614	413/537		chr20	TogoVar
CPNE2_chr16_57087583_57153369	57119655	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	362	0.0028	0	c.681 others(5): Show c.681+5G>A		CPNE2	ENSG00000140848.17	transcript	ENST00000290776.13	protein_coding	7/15					chr16	TogoVar
CPNE3_chr8_86509435_86566498	86531228	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03516.hp2 NA18906.hp2 NA21309.hp1 HG03516.hp2 NA18906.hp2 NA21309.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0010 a0005c0007t0010	a0005c0007t0010g0278 a0005c0007t0010g0279 a0005c0007t0010g0280 a0005c0007t0010g0278 a0005c0007t0010g0279 a0005c0007t0010g0280	3	340	0.0088	0	c.386 others(3): Show c.386C>T	p.Thr others(6): Show p.Thr129Met	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	5/17	541/4857	386/1614	129/537		chr8	TogoVar
CPNE3_chr8_86509435_86566498	86544740	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00738.hp2 HG00738.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0003 a0008c0014t0003	a0008c0014t0003g0006 a0008c0014t0003g0006	1	340	0.0029	0	c.634 others(3): Show c.634G>A	p.Val others(6): Show p.Val212Met	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	9/17	789/4857	634/1614	212/537		chr8	TogoVar
CPNE3_chr8_86509435_86566498	86544742	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03098.hp1 HG03453.hp1 HG03098.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0004 a0001c0008t0002 a0001c0008t0004	a0001c0008t0002g0297 a0001c0008t0004g0298 a0001c0008t0002g0297 a0001c0008t0004g0298	2	340	0.0059	0	c.636 others(3): Show c.636G>A	p.Val others(6): Show p.Val212Val	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	9/17	791/4857	636/1614	212/537		chr8	TogoVar
CPNE3_chr8_86509435_86566498	86554848	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18943.hp2 NA19091.hp1 NA18943.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0055 a0001c0001t0004g0012 a0001c0001t0004g0055	2	340	0.0059	0	c.112 others(6): Show c.1121-3T>C		CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	14/16					chr8	TogoVar
CPNE5_chr6_36735775_36844444	36742492	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(83): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp1 HG02083.hp1 HG02135.hp2 HG02148.hp2 HG02683.hp2 HG02698.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA19002.hp1 NA19004.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp1 NA19090.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0005 others(2): Show a0001c0001 a0001c0002 a0002c0005 a0003c0009 a0004c0010	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0002t0003 a0001c0002t0004 a0002c0005t0004 a0003c0009t0004 a0004c0010t0004	a0001c0001t0003g0008 a0001c0001t0003g0017 a0001c0001t0003g0018 others(83): Show a0001c0001t0003g0008 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0037 a0001c0001t0003g0043 a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0094 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0149 a0001c0001t0003g0153 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0185 a0001c0001t0003g0201 a0001c0001t0003g0208 a0001c0001t0003g0213 a0001c0001t0003g0224 a0001c0001t0003g0273 a0001c0001t0003g0279 a0001c0001t0003g0287 a0001c0001t0003g0299 a0001c0001t0003g0303 a0001c0001t0003g0352 a0001c0001t0003g0359 a0001c0001t0003g0376 a0001c0001t0003g0379 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0016 a0001c0001t0004g0034 a0001c0001t0004g0135 a0001c0001t0004g0156 a0001c0001t0004g0168 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0179 a0001c0001t0004g0189 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0232 a0001c0001t0004g0238 a0001c0001t0004g0289 a0001c0001t0004g0307 a0001c0001t0004g0309 a0001c0001t0004g0336 a0001c0001t0004g0340 a0001c0001t0004g0343 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0356 a0001c0001t0004g0367 a0001c0001t0004g0369 a0001c0001t0009g0028 a0001c0001t0009g0264 a0001c0001t0009g0265 a0001c0001t0013g0335 a0001c0001t0014g0221 a0001c0001t0015g0240 a0001c0002t0003g0025 a0001c0002t0003g0148 a0001c0002t0003g0252 a0001c0002t0004g0049 a0002c0005t0004g0230 a0002c0005t0004g0304 a0002c0005t0004g0306 a0003c0009t0004g0262 a0003c0009t0004g0263 a0004c0010t0004g0227	86	380	0.2263	0	c.156 others(6): Show c.1564-6T>C		CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	20/20					chr6	TogoVar
CPNE5_chr6_36735775_36844444	36794654	GGA GGA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp2 HG01257.hp1 HG01258.hp1 others(5): Show HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01496.hp2 HG01928.hp2 HG02273.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 a0001c0001t0001 a0001c0001t0003 a0001c0003t0002	a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0003g0100 others(5): Show a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0003g0100 a0001c0001t0003g0133 a0001c0003t0002g0361 a0001c0003t0002g0362 a0001c0003t0002g0365 a0001c0003t0002g0368	8	380	0.0211	-2	c.405 others(13): Show c.405-7_405-6delTC		CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	6/20					chr6	TogoVar
CPNE5_chr6_36735775_36844444	36798502	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02976.hp2 NA19043.hp1 others(1): Show HG02109.hp1 HG02976.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0006t0002	a0001c0001t0005g0268 a0001c0001t0006g0267 a0001c0002t0001g0165 others(1): Show a0001c0001t0005g0268 a0001c0001t0006g0267 a0001c0002t0001g0165 a0001c0006t0002g0332	4	380	0.0105	0	c.288 others(5): Show c.288-8C>T		CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	4/20					chr6	TogoVar
CPNE5_chr6_36735775_36844444	36822164	C C	CG CG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00438.hp2 others(77): Show HG00099.hp1 HG00099.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01109.hp1 HG01123.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01975.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02148.hp1 HG02523.hp1 HG02559.hp2 HG02735.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18995.hp1 NA18995.hp2 NA19009.hp2 NA19010.hp2 NA19054.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19087.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0003t0002 a0001c0003t0012 a0001c0006t0002 a0001c0012t0002	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0079 others(77): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0003g0037 a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0094 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0153 a0001c0001t0004g0135 a0001c0001t0004g0356 a0001c0001t0004g0369 a0001c0001t0008g0093 a0001c0001t0008g0117 a0001c0002t0001g0077 a0001c0002t0001g0120 a0001c0002t0002g0038 a0001c0002t0002g0082 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0126 a0001c0002t0002g0140 a0001c0002t0002g0144 a0001c0002t0003g0148 a0001c0002t0005g0089 a0001c0002t0005g0090 a0001c0003t0002g0036 a0001c0003t0002g0078 a0001c0003t0002g0081 a0001c0003t0002g0091 a0001c0003t0002g0092 a0001c0003t0002g0095 a0001c0003t0002g0102 a0001c0003t0002g0103 a0001c0003t0002g0104 a0001c0003t0002g0107 a0001c0003t0002g0128 a0001c0003t0002g0134 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0142 a0001c0003t0002g0145 a0001c0003t0012g0106 a0001c0006t0002g0097 a0001c0012t0002g0087	80	380	0.2105	1	c.137 others(6): Show c.137-5dupC		CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	2/20					chr6	TogoVar
CPNE5_chr6_36735775_36844444	36823096	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19002.hp1 NA19074.hp1 NA19002.hp1 NA19074.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0004 a0003c0009t0004	a0003c0009t0004g0262 a0003c0009t0004g0263 a0003c0009t0004g0262 a0003c0009t0004g0263	2	380	0.0053	0	c.98A others(2): Show c.98A>G	p.Asn others(5): Show p.Asn33Ser	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	2/21	165/3342	98/1782	33/593		chr6	TogoVar
CPNE7_chr16_89570758_89602246	89584862	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0260 a0001c0002t0003g0260	1	348	0.0029	0	c.591 others(5): Show c.591+5G>C		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	5/14					chr16	TogoVar
CPNE7_chr16_89570758_89602246	89585766	AGGCCTTT others(67): Show AGGCCTTTGAGGAGGGGCAGGTGAGCAGGACGGGGTAGGGGGTCCTCCAG GGAGGGTCAGGTGGGGGTGGAGGGG	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18747.hp2 NA18747.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0002 a0009c0019t0002	a0009c0019t0002g0253 a0009c0019t0002g0253	1	348	0.0029	-74	c.768 others(84): Show c.768_780+61delTGAGGAGGGGCAGGTGAGCAGGACGGGGTAGGGGG TCCTCCAGGGAGGGTCAGGTGGGGGTGGAGGGGGGCCTT	p.Phe others(5): Show p.Phe256fs	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	7/15	908/2442	768/1677	256/558	INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588813	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG00438.hp2 HG00544.hp1 others(96): Show HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG01109.hp2 HG01516.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG02027.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02451.hp2 HG02717.hp2 HG02735.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03130.hp1 HG03453.hp1 HG03579.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0008 others(5): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009 a0001c0015 a0002c0003 a0003c0006 a0008c0021	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0008t0001 a0001c0009t0001 a0001c0015t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0007 a0003c0006t0003 a0008c0021t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0079 others(96): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0154 a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0252 a0001c0001t0001g0339 a0001c0002t0001g0167 a0001c0002t0001g0287 a0001c0002t0001g0331 a0001c0002t0002g0024 a0001c0002t0002g0210 a0001c0002t0002g0338 a0001c0002t0003g0018 a0001c0002t0003g0076 a0001c0002t0003g0143 a0001c0002t0003g0177 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0192 a0001c0002t0003g0206 a0001c0002t0003g0211 a0001c0002t0003g0233 a0001c0002t0003g0236 a0001c0002t0003g0272 a0001c0002t0003g0290 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0110 a0001c0002t0004g0117 a0001c0002t0004g0118 a0001c0002t0004g0123 a0001c0002t0004g0131 a0001c0002t0004g0132 a0001c0002t0004g0133 a0001c0002t0004g0134 a0001c0002t0004g0150 a0001c0002t0004g0151 a0001c0002t0004g0155 a0001c0002t0004g0169 a0001c0002t0004g0223 a0001c0002t0004g0225 a0001c0002t0004g0226 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0237 a0001c0002t0004g0266 a0001c0002t0005g0295 a0001c0002t0007g0234 a0001c0002t0007g0235 a0001c0008t0001g0009 a0001c0009t0001g0061 a0001c0015t0001g0330 a0002c0003t0002g0119 a0002c0003t0002g0153 a0002c0003t0003g0073 a0002c0003t0003g0111 a0002c0003t0003g0113 a0002c0003t0003g0114 a0002c0003t0003g0116 a0002c0003t0003g0122 a0002c0003t0003g0124 a0002c0003t0003g0125 a0002c0003t0003g0126 a0002c0003t0003g0128 a0002c0003t0003g0129 a0002c0003t0003g0130 a0002c0003t0003g0135 a0002c0003t0003g0137 a0002c0003t0003g0138 a0002c0003t0003g0139 a0002c0003t0003g0152 a0002c0003t0003g0170 a0002c0003t0003g0207 a0002c0003t0003g0208 a0002c0003t0004g0306 a0002c0003t0007g0298 a0003c0006t0003g0144 a0003c0006t0003g0145 a0003c0006t0003g0146 a0003c0006t0003g0147 a0003c0006t0003g0148 a0003c0006t0003g0149 a0003c0006t0003g0230 a0003c0006t0003g0231 a0003c0006t0003g0268 a0003c0006t0003g0274 a0003c0006t0003g0275 a0003c0006t0003g0342 a0008c0021t0001g0224	99	348	0.2845	0	c.106 others(6): Show c.1061+5G>A		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	10/14					chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588816	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0001 a0004c0020t0001	a0004c0020t0001g0340 a0004c0020t0001g0340	1	348	0.0029	0	c.106 others(6): Show c.1061+8C>T		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	10/14					chr16	TogoVar
CPNE7_chr16_89570758_89602246	89595362	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp1 HG00609.hp1 HG00621.hp2 others(27): Show HG00544.hp1 HG00609.hp1 HG00621.hp2 HG01081.hp2 HG01943.hp1 HG01952.hp1 HG02027.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02735.hp2 HG02738.hp2 HG02896.hp2 HG03139.hp1 HG03471.hp1 HG03942.hp1 NA18747.hp1 NA18940.hp2 NA18944.hp2 NA18945.hp2 NA18962.hp1 NA18966.hp1 NA19064.hp1 NA19084.hp2 NA19085.hp1 NA20905.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0001c0008 a0002c0003 others(1): Show a0001c0002 a0001c0008 a0002c0003 a0007c0022	a0001c0002t0004 a0001c0002t0011 a0001c0008t0002 others(2): Show a0001c0002t0004 a0001c0002t0011 a0001c0008t0002 a0002c0003t0004 a0007c0022t0004	a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 others(27): Show a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0110 a0001c0002t0004g0117 a0001c0002t0004g0118 a0001c0002t0004g0123 a0001c0002t0004g0131 a0001c0002t0004g0132 a0001c0002t0004g0133 a0001c0002t0004g0134 a0001c0002t0004g0150 a0001c0002t0004g0151 a0001c0002t0004g0155 a0001c0002t0004g0169 a0001c0002t0004g0223 a0001c0002t0004g0225 a0001c0002t0004g0226 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0237 a0001c0002t0004g0266 a0001c0002t0004g0271 a0001c0002t0004g0325 a0001c0002t0004g0326 a0001c0002t0004g0327 a0001c0002t0011g0200 a0001c0008t0002g0015 a0002c0003t0004g0306 a0007c0022t0004g0288	30	348	0.0862	0	c.130 others(6): Show c.1303-5C>T		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	13/14					chr16	TogoVar
CPNE9_chr3_9698833_9734908	9704994	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0241 a0002c0003t0001g0241	1	440	0.0023	0	c.260 others(3): Show c.260T>C	p.Val others(5): Show p.Val87Ala	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	4/21	424/2042	260/1662	87/553		chr3	TogoVar
CPNE9_chr3_9698833_9734908	9716043	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG01192.hp1 HG01981.hp2 others(8): Show HG00735.hp2 HG01192.hp1 HG01981.hp2 HG02145.hp1 HG02257.hp1 HG02615.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG03225.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0001g0268 others(7): Show a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0002g0383 a0001c0002t0001g0012	11	440	0.0250	0	c.884 others(5): Show c.884+8A>G		CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	14/20					chr3	TogoVar
CPNE9_chr3_9698833_9734908	9726662	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	440	0.0023	0	c.134 others(6): Show c.1345-3C>T		CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	18/20					chr3	TogoVar
CPOX_chr3_98574446_98598611	98588852	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00408.hp2 HG00423.hp2 HG00558.hp2 others(113): Show HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18988.hp2 NA18995.hp2 NA18998.hp2 NA19003.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19090.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0016 a0002c0002 a0002c0016	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0019 a0002c0002t0020 a0002c0002t0025 a0002c0002t0027 a0002c0016t0002	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0012 others(39): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0026 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0056 a0002c0002t0001g0060 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0002g0019 a0002c0002t0002g0027 a0002c0002t0002g0040 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0075 a0002c0002t0003g0042 a0002c0002t0003g0069 a0002c0002t0003g0074 a0002c0002t0003g0140 a0002c0002t0005g0009 a0002c0002t0006g0037 a0002c0002t0006g0157 a0002c0002t0006g0158 a0002c0002t0006g0159 a0002c0002t0006g0160 a0002c0002t0008g0064 a0002c0002t0019g0065 a0002c0002t0020g0061 a0002c0002t0025g0161 a0002c0002t0027g0163 a0002c0016t0002g0148	116	448	0.2589	0	c.814 others(3): Show c.814A>C	p.Asn others(6): Show p.Asn272His	CPOX	ENSG00000080819.9	transcript	ENST00000647941.2	protein_coding	4/7	921/2709	814/1365	272/454		chr3	TogoVar
CPOX_chr3_98574446_98598611	98590625	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0017 a0001c0017t0017	a0001c0017t0017g0151 a0001c0017t0017g0151	1	448	0.0022	0	c.811 others(5): Show c.811+7G>A		CPOX	ENSG00000080819.9	transcript	ENST00000647941.2	protein_coding	3/6					chr3	TogoVar
CPO_chr2_206934518_206974474	206960950	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 NA18522.hp2 NA19043.hp2 HG02055.hp2 NA18522.hp2 NA19043.hp2	a0003 a0007 a0003 a0007	a0003c0005 a0007c0018 a0003c0005 a0007c0018	a0003c0005t0001 a0007c0018t0001 a0003c0005t0001 a0007c0018t0001	a0003c0005t0001g0119 a0003c0005t0001g0125 a0007c0018t0001g0132 a0003c0005t0001g0119 a0003c0005t0001g0125 a0007c0018t0001g0132	3	422	0.0071	0	c.574 others(5): Show c.574+8C>T		CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	6/8					chr2	TogoVar
CPPED1_chr16_12654799_12808887	12697915	CAGCCTGG others(17541): Show CAGCCTGGCCAATACAGTGAAACTATCTCTTCTAAAAATACAAAAATTAG CCAGATGTGGTGGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGT CAGGAGAATTGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGTCAAGATG GCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACCCCAACC CCCACCAAAAAAAAGTCAGTTCATGAAAACCAACTCACAAGTGATACGGA TATTACCTGCTGATAAGTAGACTTGAATCACGCTTAATTCAATTCCATTG ACCACTATTCACCTATTGGGGGGCTACTATATGACAGTCTCAGCTAGGGG CTGGCCTTACAGAGGTGAATAAGGCTGGGCTTCTGTTTCCTGGAGGAATC AGGATCTAAACAGTGACTGCAATACAGCGCAAAGGATGTCAGAGCAGGAT TTGATGTTTTATCTTCCTATAAAGTAAATCCTGGGAACCTGATCTTTTTG TTCTTTAAAACTTTGAATTTTTTTTATTTATTTTTGAGACACAGTCTTGC TCTGTTGCCCAGATTGGCATGCAGTGGCGTAATCTTGGCTCACCGCAACC TCCGCCTCCAGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTCTATATTTTAGTA GAGATGGAGTTTCACCATGTTGCCCAGGCTGGTCTTGAATTCCTGACTTC AAGTGATCCACCCACCTCGGCCTCCCAAAGTGCCGGGATTACAGGTGTGA GCCACTGCACCTGCCAAAACTTTGAAATCTTAAAACTATAACCATGGACT AAGATTTATCTTCTCTCTCTCTCATTTTCTAAAAAAGCATAAATACTAGA AATGAAACTCTAATTCTGTGAAATGACTCATTAACTTTTGCGGGGAAGAT CAACTTATTGGAATTTTTCATAATTGCCAAATTTGCTCTGGGCTCTCTAA CACACAGTTCTAATCTCTCTTCGGAGAATGGAAAAAAAGAAAAGGTATCG AGACATCAAGGGAAACATGGTCAGTTAAAGATCTAGCTTTTGTTTTTTAA GACTGAGCTTCTAAATTGGAATCAATATTAAATGGGTCATATATTAACCC TCTGCTGAAAGAGGCATAAAGGACCGAGAAAATGTCTAGGTTCAACCAAA ATTTCATTATCTACTATCTGTCTTTGCTACTCCAACTAGGTATCAGGTGA ATAAAGCGGAAAACCAATTTCTACATCCCTTGGATGTGATGAAATTGATT ATCCTCACGCAGGTGAAATGAAGACAGAAAATAACAGGTGCTGCTTCACA CTGGTATATCTGTCCTGACCTGATAACTGTTTATTTGTACCGGCTATTGA CAATGTTTTTGTATCATACAAAGACGGTTTTTCACTGAGCTTCAAAAGTA GAAACAGGATGCATCTGTTTCTAGGGAAACCTGCACTTGGAGGCTGGCAG GCTTCGATTCACACAGCACACCCCTCCACTCCCGGTGGTCCACTGCACAG TGACACCCTCCTCCTCGTTTATCTCATCCCATTTTTAAAAATTAATGCAA CAATGAGAGATGATTGTTGATGCTCATTATTAAATCATTTATTCATCCCA CACAATGATTCAGAATTATTCATCAAGCTTGCTGGAAGGAAGCTGGGTTT TACCTCCACGGTGGTTTGGGGAGAGATGTGCTCTTTAAAAGGGTATTTTA TAACAACACAATTATCATAATTAAAAGTTACCCTGATATTCTGATGAGCT TTTGACATATTTTTGAGTACTGGCATTTCAGCACAAGGAGATAAATGAGA CTGAGACAGTAGTAGGGAATAATATTGCCATGGGGGGAAGAAAACAAAGG CAATATTAAATACCAGCTGCCATCGTCACCCCCAATTTTATCCCAGCCTT TAAGTTAATGAATTTTACAAAATATCACTTGAACTTCTGGCTCTCCAAAA TGAGTTCCAATTATGTTGTTGTGACCTGAGCCGCTTTCTGCATAACTGAG TCATGGATGCGTACAGCCAAGAGCGCCCACCTACATGAGCTTCCAAGCCC AGCAAGTCTATCTGCCTGCAGCGGAGAGCCTCCACATCCGACTCATATTT CCTTCTGATGTTGCCTAAGATTTGTTCTGTGTTTGGAAGGTCATTCAGCA AAAGGCCTGGTTTGGCAGGCCACGGAAACTGACAGGGAATTTCGGGAAGG GCTCTCATCTCTCTGGCCTTCTCTGTGAAGCAGGTTTAGGTGAAGACCCT TAGGCCAGTGGCCAAGAAGAGGTAGGTGCCTTTGTATACCTGCAGGTGGT GCCTGGAGGAAGCAGTGGGAGGGGGTGCTTGGGAAGAGAAAGACTGCTGA GTGACTTTGGAGAGCCAGCCTGGGGACCAGAGCAGAGAGAGGCACAAGTG GCTTCCCTAAGACCAAAGGCCACAGAGGCCACGTGTTGAACACAGAGGTC TGAACATGCTCTGTTGCCCAAGGTGGAGTGCAGTGGCATGATCTCGGCTC ATTGCAATCTCCACCTCCCAGGTACAAGCAATTCTCCTGCCTCAGCCTCC GCAGTAGCTGGGATTACAGGTGGGCACCACCAGGCCTGGTTAATTATTGC ATTTTTCAGTAGAGACAGGGTTTCGCCCTGCTGGCCAGGCTGGTCTTGAA CTCCTGACTTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTAGGAT TACAGGTGTGAACTACCACACCTGGCCCAAAGACTTTCATTCATTCATTC CACAAATACTGATAAAACATTTATTATGAGCTAATATCTGAGCCAGGTCT CCCAACTGCATAGCTGAATATGACCCTGTCCCTGCCCTCAGGGAGCTGAG AGTTTAGCGGGGATTCAGACAAGTCAACACTTGCAAATCCACCTGACAAG TGCTGGGATAAGAGAAGCTGAAGAACCTGGGGTGGGGAGGAGGGGAGAGC CTTATACAGAAGATGTCAAAGTTGAGTGGGAGGCGGGATGTGGTGTCTCA TGCCTGTAATCCTAGCACTTTGGGATACCCCGGCGGGAGGGTCACTTGAG GCCAGGAATTTGATATCAGCCTGGGCAACACAGTGAGACCTCCATCTCTG CAAAAAATAAAAAAATTAGCCAGGCATCGTGGCACTCCCCTGTAGTCCCA GCTACTTAGGGGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAATCCAGG GCTGCAGTGAGCTATGATCACATCACTGCACTCCAGCCTGAGTGACATAG TAAGACTCCATCTCAAGAAAAAAAAAATGTTGAGGCCGGGTGTGGTGGCT CACACCCGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTG AGGTCAGTCAGGAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCCAT CTCTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGCGCGCCTGTAA TCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGG TGGAGGAGGTGGTAGTGACCCGAGATCATGCCACTGCACTACAGCCTGGG TGACAGAGTGAGAATGTCTCAGCAAACAAAAAATTGTTGAGTGGGCCTAG GCAGGTGAACCAGAAGAGGCTGGAGGGGAAGGCAGATGTGACTGAGAAGG GCCCTGGACACTGCAGTGAAGAGCTGGGCCGGACCTGGGGGTGGAGGGAA GCCTCATGCTTTGCAGTCAGTTACACACCCATCTTGCTGTTAGGTGCAGA ATGAACTAGAATGGGTAAGAGCAGAGTGGGGAGCACAGTGCAGAGCTGCT GCTAAGACCCAGATGAGACAGTGGACAGGCTACAGAGACACGAAGGAGGT AGAATTAAAGGGACATGAAATAACCAAGTGCCTTCAGCTAGCGAGCTCCT CCGGAGATGGAGCCATTGGATTCCAGCGCCTGATGTCACTGAGAGTGGAA TAAGGCAGCTAACCCCCCTGTTTTCTCATGCCTACCAAGCAGCCTCCTGA TTATAATTGGGCTTCCCATGTAGCTCTGCCTACGGGAAGAGAAAGCACCG CTGGGGTGGAGGCCAGGGCTGCGGTCTTGCTCTAAATTAATCAACTGCCA TTCTGGTTTGTAGCTATCAGTCTCTGGGAGCTGGGATAATTGGAGACACA GACCAGCTCTTGGTTTGCCAGCAACTCTGGTTCCTGTGCTTGAGGGGTTG CAGATCTGAGTGGGCAGGGGGCTGGGGCATCATGGATATGATGCCACCCT GTAGGGCCCTTGGTGGGTGGTCAACAGGCTTCTCCCAAGGGTGCCCTGTT AGAGCTCACACCTGTAATTTAAACTCTTCGGGGGGCCAAGGCAGGGGGAT CATTTGAGGCCAGGAGTTAAAGCCCAGTGAGGTGCAACACAGTCAGACCC CGTTTCTACAAATAATTAAAAAAATTAGCTGGGCATGGTGGTGTGTGCCT ATAGTCCCAGGTTCTCAGAAGGTAGAGGTGGGAAGATTGTTTAAGCCTAG GAGGTCGAGGCTGCAGTGAGCCATGATCACGCCACTGCACGCCAGCCTGG GTGACAAAGCAAGACTCTCAATCAATCAATCAATCAATCAATAGAAAAAA TTAGAACTGTGAGTCTTCTCAGTATCTGGGGGTGCTCTGTCCTACAAGGG GAAAACCACAGAACTACATACCACTCAGGAATGTGGTCAACAAGAACAAG AACAAAGAACTCAGGGCAGTCATGGGCTTTACATCATCTAACATTAGATC TGGCCAGCTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCG AGGTGGGTGGATCACCTGACGTCAGAAGTTTCGAGACCAGCCTGGCCAAC ATGGTGAAACTAAACCTGGCCAAACTGTCTCTACTAAAAATACAAAAACT AGCTGGACATGGTGATGGGTGCCTGTAATCCCAGGTACTCAGCAGTCTGA GGCAGAAAAATTGCTTTAACCCAGGAGACAGAGGTTGCAGTGAGCCGAGA TGGTGCCACTGCACTCCAGCCTGGGTGACAAGAGCGGGACTCCGTCTCAA AAAAAAAAAAAAAAGAAATACCATTGGATATGAAAGGAATCACTTCAATG GCATTAAATGTTCTCTCTGGCTTTATTCTCCACTACAGAATAGTCTCCAT GGTGGTGCTCATGCCGCCTTGACGCTTTGTTTCCTTGTCATCAAGACAGT TTTCTGCACCAACTCAAGCATGGCATGAAATTTCAAACGACTTAATAGAA GTTTTCTAACTTTATCTCCATGGAACAGCTGGAAAACATCTCCAATTATG TGAGCTTATTGCAAAATGTCTTGAAAATACAAAATGTTCCGCTGGGTGGG GTGGCTCACACCTGTAATCCCAGCACTGTATTCCCAGATGGGACTAAATC CGTTACTCTCTCCGGATTCTGGAGGAGAACTTAATCCACCTCACCAGAGG AAAACTGATCACGTCCCGTGGCCTTGGGAAGCCAAGGTGGGTGAATCACT TGGGGTCAGGAGTTTGGAACCAGCCTGGACAACATGGTGAAACCCCATCT CTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGTCAGCGTTTGTAATC CCAGCTACTTGGGAGGCTGAGGCATGAGAATCACTTGAACCTGGGAGGCG GAGGTTGCAGTGAGCCGAGATTTTGCCACTGCACTCCAGCCTGGGCAACA GAACAAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAGTAAGCCCTGGT GAAAGGAAGAACGAGGACAAAGAGAAGAGACACAACAGTTGTCAAAACTG GAATTTGCCAAATCACTGGTAACCCAGGGAATCTGCCTAGAACAGACTGT TTCTCTTGAAAGGCCCATGGCAGGTGCTACCAGAAAGATAAAGGAGGTGG GTGGGCTAGTGCCTTAGAGTGCCATCAGAAATTGAGGTGTGACCTCCAGA AATGGAGGGTCTTCATTCTGTGCGTGCACGTGTCTGTCACATATATCACT GGCAGCAAAAGATGGGACTAAATCCGTTACTCTCTCCTGATTCTGGAGGA GAACTTAATCTACCTTGGCAGAGGAAAACTGATCAGGCCCCAGGAACTGT CCGCTAAAGCCACATCCCAGGATTTCCTGAGTCACAGCTGATGAATACTG GAGGGCAGCTTGACTCTTAAAGATCGTCTGCCCTTGAGCAAGGTGCCTGC TTCCCAGAGAAGTGAAAGCAGATGTCCCTGGCATCTTGCCTTCTCCCAAG GCACATGCAAGCCACATTCACACCCACCTGCACTACCCAGTCTACTTCCC CCAATAAACCCCTCCTGCCACTTCCAGAACTCCAATCTTCAACTGTGAGC AGCTATGGCACACTGAGTACTTAGGCTAGGGTCTGTTCTCCATGTCTTGG AGGCCTTTCTCATTTAATCCTTGACACCATCCTGCAATAAGGCTACTATT ACTATTCCTGTTTTATAGACGAGGAAACTGAGGCACAGGAGGATTAACTA GCCAGACATGCAGTCTGCAAGTCCAAGAGCTGGTATCAGAACTCCCGGCC TAGTCCTCTCTCCCTTTTTGACACATTGCAGAGAGACGGGAGAAAGATCT GGAAATGCCCTCTCTAGACTTGTCCTTCCTCCCTGAAACCCGTGGCCCGG GGCCTCTACCTGCGTGGATGAACTTGTCTGCCAACTTCTTCCGAGTGGAC TTGCTGAGGTTGAAGTAGTAGTCGTCGTCCTCGTCGATGCTCTCCAGGAA CAGCGGGATGTGCTGGAAGACGATGGCATGCTGGCAGTGCCGCTGCCTCG CGATGCTCAGCTGCTCGTCCAGCCACTGGTCCTGAGCCTGCTTCAGGCTG GGGCATTTGGAGGGGTTCTCGTAGAACTGGGAGTTGAGGACCAGGAACAG GACGCCCCCGACCCAGAAGCTGAAGTAGTCATCTCCCCAAGTCCGGCAGA ACTCCTCGACGGTCTCGGCCGTGGGGGTGTTGCCAATGTCATGGTTGCCG CTGACAAGGACCAGTGGGATGGCCCTGTCCACTGCCCTAAGCACTCGCTT CAGGTCCTCCGTCTGCTCCGTCCGCCACGGCTTCCCTGGAAGAGTGAGGG TCACGTCCTGAGAAAGCCAGGGGCTTATTCACTTGAAATAACTAACTTAA GTACTTACTAACATAAAATTTAAAAAAAGAGTAATCTGGAAATCCACTCC ACCTAGCACATGGAAACTGCAAAATGCAGTCACGTGCTAAAAGCAAACCA ACAAGTCCGACGGGGGCCTCTGCCCATCCTTCCCCAGGATACCTTAGAAA TTCCATGACTACATGGCCCCCTGCCCTATGTTGCTGAGTGATGGTGTGAA GTCAATCCTGAGATTAAATATTAGTGGACTGGGTACAGTGGCTCACACCT GTAATACCAACACTTGGGGAGGCTGAGGTGGGAGGGATCACTTGAGCCCA GGAATTATGAGACAAACCTGGGCACTACAGTGAGACCCTGTCTTCATAAA AAAGAAAATTAGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTT AGGGAGGCCGAGGCACGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC CTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCT GGGCATGGGCACGGGCACCTGTAATCCCAGCTACTCGGCAGGGTGAGGCA GGAGAATCGCTTGAACTCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCAC GCCATTGCACTCCAGCCTGGGCAACAAGAGCGAATCTCTGCCTTAGCCTC CCAAAGTGTTGGGATTACAGGCGTAAGCCACCGCGCCGGGCAGAACATGC GTTCTTTCACTGTTGAATACCAAGTTCCTCATATTTCTACTCAATCAAAC TCATTAATGGTGTGGTTCAAATTTTCTGTGTCATTATCCTTTTCTTTCGG CCTGTTGATGTATATTTGTTTCTGAGAGACTTGGTTAAGTTGTCGCTGTA ACTGTGGATTGATCTGTCTCTTTCTGTAATTCTGCCAAGGTTCACGTCAT TTACTTTTAGTTACATTGTTAGACGTGTAAGAGTTCAGAATTTCAATATC TCACTGCAATAGTTTTATATTTAACCCTAATGAAATAAATAAATATCAAG ATAAGAAACAGGCGATCTATATTAATGCTATGAGAAAATCTTTAATATAT AGTAAGTTAATAATATAAGGCACAGAGGAATAAAATCACACACAAATTTT TAAAAGCCTCACATGTATTCATGTATTATGGATAAAATGTCCCCCAAGAT TCAAAGAAAACTGTTAACTCTGGTTAAATCCAGGAAACAGAAGCAGAGAG GGAGGGAGTCTTACACTTGGTTTAAAACCCTTTATATTAGGTTGGTGCAA AAGTAATTGCAGTTTTTGCCACTGAAAGTAATGACAAAAATTGCAATTAC TTTTGCACCAACCTAAATACTTTCTTTCTTTCCCTGCCTCTCTCCCTTCC TTCCTTCCTTCCTTTCCTTTCTCCCTTCCTTTCCTTCCTCCCTTCCTTCT TTCCTTCCTCCCTTTTCCCAAGCTTATGTATAATTTTCACCGAAAAAAAA AAAAAAAAAAAACTCAAAGATTTTGACTCCATGGTTCTGGGGCTTAAAGA AGATTGAGGAAGCCAGCCAGGTGGCTGGAATGAATGTTTGGACTGGCAGC CCCAGGGCCAGCCTGGATCAACTCAGACCAGCCATGAGGCCAATGTGGAC TGCAGACAAACCCTAGCACCCCTGGAAGAGAGGACTCTCGGTCCCTGGAG CAGGCACGACCTGCTTCCACAGGAGGCTGAGCAGACTGGGCTTCAGACCC CAACTCCTGCTGCAGGGGTCAGCCAGCCTTTCCCGAGCCCATTCCACTGG TGTCCAGAGGTGAGAGGTGGCTGCACGGCCTGAAGCCTAGTGGAGGGAGC CTTAGGGAGAAGCAGGTTCTGCCTGCACCAGAAACCAGGAGGCCTCTCTC TCAGGGGTGCTGGGGGTTCATTCACCTACCGTCTGCATCGAAGGTGCCAT TGATTGACATTGCTTCTTTAGCCGAACCCGGACTGCAGGCATCTGTGCTG ACTTACATGATCCTCTCTAAGACTCCAGTGTCTGGTTCTTTTCCCATGCC AGTTTAGGAAAGACAAGTCCTTTGTAGCTTTGAACACAACAAACTCTCTC AAAGCGACCCTTGTGGTCCAAGGCTGATTCATTACCACTTTCCTCACTGG ATTTTCTCAAAGACCTCAAAGCCGCCCCTCTCACTTCTTCTTCTTTCTGT TCACACTGACTTGGGGATTTTGGGATATTCAATCACTGACAATACTTCTT AGCACTTCCTACAGGCCAGGCACTGTTCTCAGAGCTGTGTGTGCACCGAC TTGCTTCCTCTGGACACCCAGTGGAGGAGTGGGGATTTGAACTTGGTGGT CTGGCTCAAGGTGCTGTCTACAGTGTCCTGGTCACAAACTAAGGTCGTTG CTCTCAGGATGACTTCTCCTGGCTGCCCTGAGACACAGGATGAGGACTTT ATAATACACTGGGGTGCAGAGCATCTCCTGTTCTTGATTTTCAAAGTCAT TAAGTATGGCCCCTCACATGCTAACTGAGGCAGGTATGGAAAAATGTCCG AATCCCTAATGACCATAAACAGAAAAGTTAAGAAGGGGCAGTTCAAAAGA AAGGCTGACTTGGGAAGGAAACCTTGTCTAGGAAGCAACCAACAAGGAAG AGCTGGGAATTACACACAGTAATGTGATGTGTGTTTCCAAACAAAGAGGG ATGCTGCTTTTGGGGAAACCACCAATATCCCCCAGTAATCTGTTAAAAAA AAAACGCAGCTCATCTTCCCTAAATTTCCTTCAGCAAAAATGAGCCTCTT GGCAGGGCGTACTGATGCATGCCTATAATCCCAGCACTTTGGGAGGCCTA GGCGGGCAGACAACTTGAGGTCAAGAGTTCAACACCAACCTGGCCAACAT GGTGAAACCCCAACTCTGCTAAAAATAGAAAAATTACCCAGGCATGGTGG CATACACCTGTTGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCT TGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGACCGTGCCACTGCACT CCAGCCTGGGCAACAGAGTGAGATTCTGTCTCAAAAAAATTATTTATTTA TTTATTGTTGGAAAAAAAAAAGATGAGCCTCTTTCTTGTGTAGCTTTTCC AACACTTTCTATACCTCTTGCATGGAGTCACAGGTGCTGAGGTGGAGTGA GTGTGCCCTGGGGTTGGTCTCTTGCCCCTTACAAGCTGCATGGCCTTAGG TAAGTCCCTTGGTTCCTCTGAGTCTTGGTTTCATCGTGTATGAAATGGGG ATGATAATTCCCATACCTCAGGAATGGCTGTAAGAATTCCTACTAAGATA ATGATGTCTAGAGTCTGGTACAAACAAGAATGCAAAGCTGTCAGCTGTCT GCTTTCCACATCCCATCCCCCTAAATGTAATAAATTCTTCCATTTTTATC AGCGACCCACTGTGTGTGCATAACAACCAGTAAATCGTTTCAGAAGGAAT GAAAATCTTCCCCAGGGACAGAAATAGTTTTTAGTTAAGAATCTGGAAAT AAAAGAGTAAATCCTAGATTACAAAAACCCAAGTTGAATGCCAACATTTG CATGATCTTTAACAAGCTCTCATTTGCATGTAACAGAATCTCTGTAGGGT TACGTACTATATTAACAACAACTTAGTATTAACAAAGATCATAGCACAAC TTAGCAGAGCTTCCTGAAAAATAGTCCCATTGTGGCTGGGTGCAGTGGCT CATGCCTGTACTCCCAGGACTTTGGGAGGCTGAGGCAGGAGGATCATTTG AGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGACAAAACCCCATCTCT ACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGGGCCTGTAATCCC AGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGCAGA GGTTGCAGTGAGCCAATATCGCACTATTGCATTCCAGCCTGGGTGACAAG AGCAAAACTCTGTCTCAAAAATGTCCCATTATATATGAGAACCCAAAGCC CAAAGCCAACCTCACCAGCATCATGAACAGAAAAAACAGAAACCTGCCCA AGGACACAGAGCTTCAATGAGTTTCCTGTCTCACGCAGGGTTCTATGTTC ACAAAAAGAATGTATATAAAGGACAGGAAGAAAGGCAGGGAAACAAGGGG AAAGACTCTGAAAAATGGCAAGACATGACTCAGAAGAGGGGCAGAGAAGG ATTGTTCTGGGGTCTCCAAGGTGGATAAGAGGTATCTGCTGAGAAGTGGG TGCCAAGAGTACAGGGACCCCAATGTCAGCACACACCTGACCCCCACGGA GAGGAGCCCTGGGTGGGAATGGCGAGAGCAGTGTAGAAAGCTGCAAAGCG TTTAAAACACTTAAAAAAATTTTAATGCAATTGGTCAAAATAAAACTAGG AGGTAAAAAGCATGATAACGATAATTACAAAATTCTTATTTGTATCAGTG GTACTGTGAGAGGTATGATTTATTTTTGTCCATATTCATTAAGGCAGACA TTAGTATCTTGGTTGTTTTCCAAATAGCCTTAAAATACATTGTCTAATAA AATCTCTTTGTGAGTTAGGAAGAGAAATAAACATCCTTAACTGGATAAAG GACATCTGTAAACAAGTATAGCTATGATCATAGGTAATGGTGAAAGACTG ACTGCCTTCCTCCAAGATCAGGAACAAGACAAGGAAGTCTGCTCTCACAC TCTCACTGAACATCATACTAGAAATCCTAGCCAGTGCAATAGGCAGGCAG GCAGGCAGTCAGGGAAGGAAGGGAAGGAAGGGAAAGACGGGGGGAAGGAA GGGAAGGAAGGGAAGGAAGGGAAGGAAGGGAGGAAGGAAAGAAGGGAAGG AAGGCAAGGAAGGAAGGAAGGGAAGAGAAGAGAAGGAAGGAAGGGAAGGA AGGGAGGGAAGGAAAGGAAAGGGCATACAGATTAGAAAGAAAGAAATCAG TCAATTCTCAGAAGACTGTCTCCACAGAAAATCCCAAATAATCTACAAAA AACAAAAGAACAAAACATCAAAGACTCTTAGCACTAATAAGAGAAATTAG CTTGGATGCAAAGTAAATATATAAAAATCAACAGTATTTCTACATCCTAA CATAATATAAAAATTAGAGGTTTAACAAGAAGGATTTAAGAGATATTTGG GAGGTAGAACTGACAGGAATCCTCATTGTACTGGTTACAGGAAGGACTCA AAATTAATTCCCAGACATCTGAGCAACTGGGAGGCTGGTCATGTTGTTTA CTGTCAGGGAAAAGACTAGGAGAGAAATAGGTTACAGGTAGAAATCAAAA GGTCATTTTGAATATAAAATTTGATGTATTGTTACAGGCCAAAAAAAAAA AAAGGAGGGGGGGAACAGACAAATTGGACCTCATGAAAATGCAAAACGTT TGTGCATCAAAAGACACTATCAACAGAGAAAAAAGTGCAAACCACAGAAT GGGAGAAAATATTCTCAAATTAAATATCTGATAGGGAATGAATATCAGAG TATATGGAGAACTCCTAAAACTCAACAACCACTAAAACAACCTAACTCAA AAGTTGGCAAAGGATTGAACAGACATTTCTCCAAAGAGGATATATAAATG GCCAATAAGGACATTAAAAAGGTGCCCAACACGACTACTTATTAAAGAAA TGCAAATCAAAACCACAATGAGACGCCACTTCATACCCATGAGGATAGCT ACTATCAAAGAGACAGAAAATAACAGGTATTGGTGAGGATGTGGAGAAAA TGGAAACCTGGTGCATTGTTGATGGGAATGAAAAATGGTGTAGCCACTGT GGAAAACAATATGGTGGCTCCCCCAAAAATTAAACGTAGGATTACCAGAT AATCCAACAATTCTATATCTGAGTCCCCAAAATAACTGAAAGCAGGGTCT CAAAGAGATGTTTGTACACCTATGCTCACAGTAGCATTATTCACAATAGC TTAAACATGGAAGCAACCCAAATATCCACTGACAGATGAATGGATAAGCG AACTGTGGTATATCCATACAACGAAATATTATTCAACCATAATAAAGAAG GGAATTCTGACACATGCTACAACATGGATGAACCTTTAGGATATATGCTA AGTGAAATAAGTCATGCAGAAAAAACAAATACTGTTTGATGTCACTTATA TGAGGCACTTAGAGTGGTCAAATTCAGAGGCAGAAAGTAGAATGGTGGTT GCCAGGACTTTCAGGAGGGAAGGATGGTGAGTTATTGTTTAATGGGCACA GAGTTTCCATTTTGCAAGATAAAAAGAGCCATGGAGACAGATGGTGATGA TGGTTGCACAACAAATAGGAATATACTTCATGCCACTGAACGGTACACTT AAAATGGTTAAGGTGGTACATGTAACGTTACGTATATTCTGCCATGCTAA AAGAAAAGAGAAGAAACCACCAAAGTTATCAATATACTCATGATCCCTCC AGGTTGGGCTGTTGAGAGGGCAGCTGGGTCTAGGAGTCTGGAGTTCAGTG GAGGGTGGGGCTGGAAGCAGACACATTCACCATCATTCTAATAGGAGCCC CCATGATGGTGCCCTTGGGGTTGGCTTTTCAAGGGGATCCATAAGTGGGC TCCAGATTCAGAGGACCTGAGGTTGCTCTTTATTAGGGGTGTCCTCTGGG GATGTTGCCCTCTGAGCCTGTCTTCTAGACCCTAAAATGAAAATATTATC ACCTCCTTTATGGAAATTCTGTGAGATAAATGAGATCATGTATTTAAAGT GTCCAGTATGTAGTATGTGCATACCTTCCTTTCCCCTCTTTCTAACAGCC CCCTACCCAGGGAAGAGACAGGGGAGGAGGGAGGCAGGTCTCAGGTGTTC AGAGATCTCCCTCCCATTTTCCTCATTCTCAGGGAGCTTAGCCCCCAGTG CCGCTGCTACTGTCCCTGAGAAATGCAGGAAAGAACACACATGTCTGCAT GTTGACATCCTAGCCCAGAGCTCACGTTTACCTGACAACTCGTTTACTGT GGTGCCTGGAGGCCACACCTGTCCTGCAGACAGATGGATACATGGATGAG ACAGTGCTTAGGCCCTTGCACAGAAAGGGAAGCATGCCAAGGACAAGAAT TTCCAGAGACAGCCCTAAGAGGTCCCTGGAAACAGAGTCGATGGGGCTCC GTCCCTACCTGCAGGTTGGAAACGGAATAGTCAAGCCAGGGCATCAACTA TATGGTTAAGATCATAGCTCAGTAATTAAAACTCCTTTCAGGGGGCAAGT AGAACTCCTTTCAGGGGGGAATTGGAAATATCCATTTAAACTTTAATAAC TTCATGATATTGAGTGAGCCAGCAGTTCCATTTATCAGCCTTTATCCTAC AGACACATACACAAGTGTGCAAAACATAACTATTCCTTGTAGCAACAATT GAGAAGATATAAACATTTAAATTGGCTTAAATGTTTATTAATAAGGAATA GATAATATGTATAGAGTAATAAACAGGCATCACAAAGAATGAAGGAGATC CGAATTTAGTGGCCACGGATATATAGAAAAGGTGCACTGTTAAGGTTTGG GGAGCAAGGGTTGGCTGGCAGTGGGGGACAGTAAGTGAAAACAGGAAGTT ATTAGAGCTAGTAGTACGACACAATTTTATTAAAAATAAATCTACGAGTT GGTATATTCAGAGATAAAAATATCTAGAAAAACATGGCAAAACTGTTAAT AGTACCTGTCTGTGGGGAAGTGGAAGGACAGAAAACATTTCAGTTTCCTG AAAAACTTAATTTTTTATGAGCATAAGTTACTTTCATTATAGAAAAATAA TCAAGACATTAAAAAATCACAGATGCACTAAAATTAGATCTTGTTAAGTA AACAAGTATACATTTAAATAAAATGGGAACAAATGTAAAACAAGTGACAA GGCCAATTGTGTAAGTACTGTTCTTTACTCTCAGAAAGAGAGAAAATGGG GAAAAGAGAGTACCAGAAAGGTATTTCGAAATAAGTTCTTAAAAAAAAAA ATCGCAGTGGGTAAATTCAATTTAAAAAAATGTATAAAAAATTGTGCTCA GGACGAATTGTGTTCTTTCTGAATCTGAATAATTACATTTTCAAAAAGAG AGTTTTCTTCTAGAGCAGATGACTTTAAACGTCAACACCTAGTGAGTATC AGAGGCAGCACAATGTCTCTGCTACTATTTTGATATCTGAATGAAATAGC ATCAAAGGAGAAGGTGGTTGTCCTGGTCTTTTAAATCTAGTTTCTTCTTT TTTATTTTTTATTTTTTTTGAGATGGAGTCTCGCTCTGTCACGCAGGCTG GAGTGCAGTGGCGCAATCTCGGCTTGCTGCAATCTCTGCCTCCTGGGTTC ATGCGATTCTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGCATGT GCCACAACACCCAGCCAATTTTTGTACTTTTAGTAGAGACGGGGTTTCAT CATACTGGCCAGTCTTGAACTCCTGATCTCAGGTGATCTGCCTGCCTCAG CCTCTTAAAGTGCTAGAATTACAGGTGTGAGCCACCACACCTGGCTATAA ATCTCGTTTCTTCAATCTTACTAAAATATGATATGTGTTTCTCAATTTTT TTTTCATTATTGCTGCCCCCAGGAGACCCAAAATTAGACTTTTTCCTAAT CTCCCCTCCACTAATAACAGCTTGAGATATAAATACACAAACAATATAAT TCATCCTCTGAAGGTATGTTTTTAGAATATTCAAAGAGTTGTGGACTGTC ATGAAAATCAATTGTGGGACATTCTCACCACCCCAAAATGAACTTTCACC CATTAGCAGCCCTTCCCCATTGCCCCCCAACTCCCACCACCCTAATTCTA AGCAATCACTAATCTACCTTCTATAGATTTCTCCACTCCAGGCATTTCAT AGAAATAGAATCATATAAAATGTAGGCTTTTGTTACTGATCTTTCACTTT GCATGATGTTTTCAAGGTTCATCTATTTTGTAGCCTATGTTAGTGCTTCA TTCTTTAATTGCTGAATACTATTCTACTGTATGAATATATCATCATATTT TGTTTATCCATTCATCTACTGATGGACGTTTGGGTTGTTTCTACTTTCTG GCTATTATGAATTATGCTGCTATAAAAATCCACGTGCAAGTTTTTCACAT GTGAAAAGATGTGTGGATATCTTTCATCTCTCTTGAGTGTATACCTAGGA GTGAAACTCTGAGTTACATGGTAACTATATGTGTTTACTTCTTTAAGAAG CTAGCAGACTGTCTTCCAAAGCACCATCCTACATTCCTACCAGCAATGTA TGAGGGTCCCAATGTTTCCACATCCTCAACACTTGTTATTTTTCACCCTT TTAATTGTAGCCATCTTAGTAGGTGTGAGGTAAAATTTCATTGTGGTTTC TATTTGCATTTACATAATGACTAATGATGCTAAACATTTGTTGTTGTGCT TACTGGCAATTTTTATATCTTCTTTGGAGAAATGTCTATTCAGATACTTT GCCCATTTTTCAGTTGGGTTATTTGTCTTTTCATTATTAATATTTAGTTG TAAGAGTTCTTTACATATTATGAATACCAGATCTTTATCAGATACAGGAT TTGCAAGTATTCCCTCCCATTTGGTGGGCTGTCTTTTCACTTTTTTGATA ATGTCCTTTGAGGTACAAAATATTCAAGTTTCATAAAGTCCAATTTATCT ATTTTCTGTTTTGTCACCTGTGCTTTTAGCGTTATATCTAAGAAATCACT TTCCAATAGAGGATCACAAAGATTTCTGCCTATGCTTTCTTCTAACAGTT TTCTAGTTTTAGCTCTTCTTTGGGCTTTGATCCATTTTGAGTTCATTTTT TTTTTTAATATGGTGTGAGGTAGGGGTCCAAATTCACTCTTTTGCATGTG GATATCCAGATGTCCCTGCACCATTTGTTGAAAAGACTACCCTTTCCCCA TTGAATTGTCTTGGCGCCCTTGTCAAAAATCCATTGACCCTAAATGTGAG GATTTCTGGATTCTCAATTCTAATCCATTAATCTCTATGTTTATCTTCAT GCCAGTACCATAGTGTTTTGATGACTGCAGGCTTCTAGTAAGTTTGAAAT CAGAAACTGTGAGTCTTCCAACTTTATTCTTCCTTTTCAAGGTTGTTTTC GCTATTCTGGGCCCACATAATTTTCATATAAAATTTAGGATCAGCTTGTG GTAACTGTGTAATCAAGGAGAAATAAGATCAAGGTCCAACACTTAAGCAG CTTATAGCTTTTAGGCTGGGTGTGGAGGCTCACGTCTGTAATCCCAGCAC TCTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01978.hp1 HG01978.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0181 a0011c0019t0001g0181	1	290	0.0035	-17548	c.290 others(18): Show c.290-10414_715+6708del		CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	3/4					chr16	TogoVar
CPQ_chr8_96640242_97148501	96880003	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02004.hp2 HG02004.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0045 a0006c0010t0001g0045	1	126	0.0079	0	c.847 others(3): Show c.847C>G	p.Gln others(6): Show p.Gln283Glu	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/8	1042/1932	847/1419	283/472		chr8	TogoVar
CPS1_chr2_210551599_210684107	210577510	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0002 a0003c0018t0002	a0003c0018t0002g0239 a0003c0018t0002g0239	1	340	0.0029	0	c.471 others(3): Show c.471G>A	p.Lys others(6): Show p.Lys157Lys	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	4/38	606/5760	471/4503	157/1500		chr2	TogoVar

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Search Results (Total: 10000 hits)