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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CPEB4_chr5_173883349_173966980	173892997	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02683.hp2 HG03491.hp2 others(3): Show HG00423.hp1 HG02683.hp2 HG03491.hp2 HG03492.hp1 NA18949.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 others(2): Show a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0014g0036	6	372	0.0161	8	c.112 others(27): Show c.1125+2172_1125+2179dupTGTGTGTG	CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPEB4_chr5_173883349_173966980	173893036	T T	TGTGTGTG others(1): Show TGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01071.hp1 others(4): Show HG00642.hp1 HG01069.hp2 HG01071.hp1 HG01261.hp2 HG02273.hp1 HG02965.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0007 a0001c0001t0005g0027 a0001c0001t0005g0191 others(1): Show a0001c0001t0005g0007 a0001c0001t0005g0027 a0001c0001t0005g0191 a0001c0001t0009g0190	7	372	0.0188	8	c.112 others(27): Show c.1125+2179_1125+2180insTGTGTGAG	CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPED1_chr7_120983711_121302442	120994625	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02056.hp2 HG02486.hp2 others(16): Show HG00741.hp2 HG02056.hp2 HG02486.hp2 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp2 HG03710.hp2 HG06807.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0017 a0003c0005 a0003c0006 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0003t0008 a0002c0002t0001 a0002c0004t0002 a0002c0017t0001 a0003c0005t0001 a0003c0006t0001 a0004c0009t0001	a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0092 others(16): Show a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0042 a0001c0001t0004g0041 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0003t0008g0045 a0002c0002t0001g0093 a0002c0004t0002g0044 a0002c0004t0002g0110 a0002c0017t0001g0091 a0003c0005t0001g0046 a0003c0006t0001g0039 a0003c0006t0001g0040 a0004c0009t0001g0050	19	140	0.1357	8	c.249 others(25): Show c.249+4783_249+4790dupGTGTGTGT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121074509	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00621.hp2 others(46): Show HG00408.hp2 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01975.hp1 HG02056.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG03139.hp1 HG03209.hp2 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG04184.hp2 NA18941.hp1 NA18952.hp1 NA18998.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19075.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0003 a0001c0008 others(7): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0002c0004 a0002c0017 a0003c0006 a0004c0009 a0004c0013 a0006c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0003t0001 a0001c0003t0002 a0001c0008t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0002c0004t0001 a0002c0004t0002 a0002c0017t0001 a0003c0006t0001 a0004c0009t0001 a0004c0013t0006 a0006c0010t0002	a0001c0001t0002g0033 a0001c0001t0002g0051 a0001c0001t0002g0068 others(46): Show a0001c0001t0002g0033 a0001c0001t0002g0051 a0001c0001t0002g0068 a0001c0001t0003g0010 a0001c0001t0010g0121 a0001c0003t0001g0081 a0001c0003t0001g0126 a0001c0003t0002g0125 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0008t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0080 a0002c0002t0001g0086 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0105 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0069 a0002c0002t0002g0084 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0137 a0002c0002t0003g0002 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0004g0133 a0002c0002t0004g0135 a0002c0002t0005g0006 a0002c0002t0005g0007 a0002c0002t0011g0136 a0002c0004t0001g0114 a0002c0004t0002g0044 a0002c0004t0002g0110 a0002c0004t0002g0112 a0002c0004t0002g0113 a0002c0004t0002g0119 a0002c0017t0001g0091 a0003c0006t0001g0039 a0003c0006t0001g0040 a0004c0009t0001g0050 a0004c0013t0006g0035 a0006c0010t0002g0111	49	140	0.3500	8	c.616 others(27): Show c.616+10207_616+10214dupTTTTTTTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121093397	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG03139.hp1 HG03710.hp1 HG01928.hp1 HG03139.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005	a0002c0002t0001g0086 a0002c0002t0002g0137 a0002c0002t0005g0006 a0002c0002t0001g0086 a0002c0002t0002g0137 a0002c0002t0005g0006	3	140	0.0214	8	c.617 others(25): Show c.617-4278_617-4271dupCACACACA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121117077	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG01192.hp1 others(5): Show HG00741.hp2 HG01106.hp1 HG01192.hp1 HG01496.hp2 HG01975.hp1 HG02523.hp2 NA18998.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004	a0002c0002t0001g0070 a0002c0002t0001g0076 a0002c0002t0001g0080 others(5): Show a0002c0002t0001g0070 a0002c0002t0001g0076 a0002c0002t0001g0080 a0002c0002t0001g0093 a0002c0002t0001g0100 a0002c0002t0001g0140 a0002c0002t0002g0084 a0002c0002t0004g0116	8	140	0.0571	8	c.919 others(25): Show c.919-7239_919-7232dupTATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121172661	C C	CATAGATA others(1): Show CATAGATAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01257.hp2 others(29): Show HG01106.hp1 HG01106.hp2 HG01257.hp2 HG01496.hp1 HG01975.hp1 HG01975.hp2 HG02055.hp2 HG02056.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03540.hp2 HG03710.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0017 a0003c0005 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0003t0008 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0011 a0002c0017t0001 a0003c0005t0001 a0004c0009t0001	a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0095 others(29): Show a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0002g0034 a0001c0001t0002g0088 a0001c0001t0004g0041 a0001c0001t0004g0077 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0003t0001g0037 a0001c0003t0001g0126 a0001c0003t0002g0125 a0001c0003t0003g0023 a0001c0003t0003g0025 a0001c0003t0007g0012 a0001c0003t0008g0030 a0001c0003t0008g0045 a0002c0002t0001g0074 a0002c0002t0001g0080 a0002c0002t0001g0087 a0002c0002t0001g0100 a0002c0002t0002g0137 a0002c0002t0003g0002 a0002c0002t0005g0005 a0002c0002t0005g0007 a0002c0002t0011g0136 a0002c0017t0001g0091 a0003c0005t0001g0046 a0004c0009t0001g0050	32	140	0.2286	8	c.205 others(29): Show c.2055+30555_2055+30562dupAGATAGAT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121172677	G G	GATAGATA others(1): Show GATAGATAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02965.hp2 HG02486.hp2 HG02965.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0039 a0003c0006t0001g0040 a0003c0006t0001g0039 a0003c0006t0001g0040	2	140	0.0143	8	c.205 others(29): Show c.2055+30543_2055+30544insAATAGATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121189760	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01081.hp2 others(3): Show HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01361.hp2 NA19043.hp1 NA20300.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0005 a0004c0009 a0002c0002 a0003c0005 a0004c0009	a0002c0002t0002 a0002c0002t0004 a0003c0005t0001 others(1): Show a0002c0002t0002 a0002c0002t0004 a0003c0005t0001 a0004c0009t0001	a0002c0002t0002g0139 a0002c0002t0004g0133 a0002c0002t0004g0134 others(3): Show a0002c0002t0002g0139 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0135 a0003c0005t0001g0046 a0004c0009t0001g0050	6	140	0.0429	8	c.205 others(29): Show c.2056-46923_2056-46916dupTATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121193995	G G	GCTCTCTC others(1): Show GCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01361.hp2 others(2): Show HG01070.hp2 HG01071.hp2 HG01361.hp2 HG01975.hp1 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0004 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0003t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004	a0001c0003t0004g0066 a0002c0002t0001g0100 a0002c0002t0002g0139 others(2): Show a0001c0003t0004g0066 a0002c0002t0001g0100 a0002c0002t0002g0139 a0002c0002t0004g0133 a0002c0002t0004g0134	5	140	0.0357	8	c.205 others(29): Show c.2056-42698_2056-42691dupCTCTCTCT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121240765	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01433.hp1 HG02280.hp1 others(3): Show HG01070.hp1 HG01433.hp1 HG02280.hp1 HG02897.hp1 HG06807.hp1 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0009 others(1): Show a0001c0001 a0001c0003 a0004c0009 a0004c0013	a0001c0001t0001 a0001c0003t0008 a0004c0009t0001 others(1): Show a0001c0001t0001 a0001c0003t0008 a0004c0009t0001 a0004c0013t0006	a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0096 others(3): Show a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0096 a0001c0003t0008g0030 a0004c0009t0001g0029 a0004c0013t0006g0035	6	140	0.0429	8	c.217 others(27): Show c.2174-3429_2174-3422dupAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121295140	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01074.hp1 HG01099.hp2 others(25): Show HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01257.hp1 HG01496.hp1 HG01884.hp2 HG01978.hp1 HG02055.hp2 HG02056.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03540.hp1 NA18941.hp1 NA18952.hp2 NA18998.hp2 NA19043.hp2 NA19075.hp1 NA20300.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0006c0010 a0007c0014	a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 a0002c0002t0002 a0002c0002t0005 a0002c0004t0002 a0006c0010t0002 a0007c0014t0002	a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0051 others(25): Show a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0003t0002g0028 a0001c0003t0002g0125 a0001c0003t0002g0127 a0001c0003t0002g0128 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0069 a0002c0002t0002g0084 a0002c0002t0002g0102 a0002c0002t0005g0005 a0002c0004t0002g0044 a0002c0004t0002g0110 a0002c0004t0002g0112 a0002c0004t0002g0113 a0002c0004t0002g0119 a0006c0010t0002g0111 a0007c0014t0002g0072	28	140	0.2000	8	c.286 others(25): Show c.2869-272_2869-265dupCACACACA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPE_chr4_165374008_165503547	165436191	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02080.hp2 HG02083.hp1 others(8): Show HG01928.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 NA18612.hp1 NA18950.hp1 NA18990.hp2 NA19058.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0089 a0001c0002t0003g0042 a0001c0002t0003g0084 others(8): Show a0001c0001t0001g0089 a0001c0002t0003g0042 a0001c0002t0003g0084 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0090 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0129 a0001c0002t0003g0146 a0001c0002t0003g0218	11	332	0.0331	8	c.308 others(27): Show c.308-28182_308-28175dupACACACAC	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPE_chr4_165374008_165503547	165451479	A A	ATTATTTA others(1): Show ATTATTTAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02080.hp2 HG02083.hp1 others(19): Show HG01928.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG03195.hp1 HG03516.hp1 HG03688.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18990.hp2 NA19058.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0003t0003	a0001c0001t0001g0089 a0001c0001t0001g0173 a0001c0001t0001g0174 others(19): Show a0001c0001t0001g0089 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0207 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0002t0003g0042 a0001c0002t0003g0059 a0001c0002t0003g0067 a0001c0002t0003g0084 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0090 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0129 a0001c0002t0003g0146 a0001c0002t0003g0218 a0001c0003t0003g0204 a0001c0003t0003g0208 a0001c0003t0003g0209 a0001c0003t0003g0211	22	332	0.0663	8	c.308 others(27): Show c.308-12891_308-12884dupTTTATTTA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPE_chr4_165374008_165503547	165451773	A A	AGCCACTG others(1): Show AGCCACTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp2 HG02559.hp2 others(6): Show HG01109.hp1 HG02486.hp2 HG02559.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp1 HG03195.hp2 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0194 others(6): Show a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0002g0286	9	332	0.0271	8	c.308 others(27): Show c.308-12614_308-12607dupCACTGTGC	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPHXL2_chr16_75655227_75682009	75663885	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02280.hp1 HG02451.hp1 others(3): Show HG01433.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02809.hp1 HG03195.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0003c0003t0001 a0001c0001t0001 a0001c0001t0004 a0003c0003t0001	a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 others(3): Show a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0004g0093 a0003c0003t0001g0049 a0003c0003t0001g0053	6	392	0.0153	8	c.208 others(25): Show c.208-2644_208-2637dupTTTTTTTT	CPHXL2	ENSG00000284484.1	transcript	ENST00000640173.1	protein_coding	2/2			chr16	TogoVar
CPLANE1_chr5_37101235_37254376	37123930	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01891.hp2 HG01952.hp2 others(10): Show HG00423.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02300.hp1 HG02698.hp1 HG03017.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 NA18947.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0027	a0001c0001 a0001c0010 a0001c0011 others(3): Show a0001c0001 a0001c0010 a0001c0011 a0002c0002 a0008c0007 a0027c0041	a0001c0001t0001 a0001c0010t0001 a0001c0011t0004 others(3): Show a0001c0001t0001 a0001c0010t0001 a0001c0011t0004 a0002c0002t0001 a0008c0007t0003 a0027c0041t0001	a0001c0001t0001g0067 a0001c0001t0001g0084 a0001c0001t0001g0085 others(10): Show a0001c0001t0001g0067 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0114 a0001c0010t0001g0106 a0001c0011t0004g0005 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0029 a0002c0002t0001g0038 a0008c0007t0003g0041 a0027c0041t0001g0103	13	268	0.0485	8	c.895 others(27): Show c.8958+1306_8958+1313dupGTGTGTGT	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	47/52			chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37217606	C C	CAAATAAA others(1): Show CAAATAAAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG02109.hp2 others(14): Show HG01192.hp2 HG01243.hp2 HG02109.hp2 HG02280.hp1 HG02451.hp1 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03704.hp1 HG06807.hp1 NA21309.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0030	a0001c0026 a0003c0004 a0004c0003 others(2): Show a0001c0026 a0003c0004 a0004c0003 a0006c0005 a0030c0019	a0001c0026t0001 a0003c0004t0001 a0004c0003t0001 others(3): Show a0001c0026t0001 a0003c0004t0001 a0004c0003t0001 a0004c0003t0012 a0006c0005t0002 a0030c0019t0001	a0001c0026t0001g0221 a0003c0004t0001g0244 a0003c0004t0001g0245 others(14): Show a0001c0026t0001g0221 a0003c0004t0001g0244 a0003c0004t0001g0245 a0004c0003t0001g0238 a0004c0003t0001g0239 a0004c0003t0001g0240 a0004c0003t0001g0241 a0004c0003t0001g0246 a0004c0003t0012g0242 a0006c0005t0002g0247 a0006c0005t0002g0248 a0006c0005t0002g0249 a0006c0005t0002g0250 a0006c0005t0002g0251 a0006c0005t0002g0252 a0006c0005t0002g0254 a0030c0019t0001g0243	17	268	0.0634	8	c.274 others(27): Show c.2746+3710_2746+3717dupATTTATTT	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	15/52			chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37229539	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02109.hp1 others(11): Show HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02559.hp2 HG02647.hp2 HG02717.hp2 HG03041.hp2 HG03209.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp2 NA21309.hp2	a0001 a0008 a0022 a0001 a0008 a0022	a0001c0011 a0001c0022 a0008c0007 others(1): Show a0001c0011 a0001c0022 a0008c0007 a0022c0021	a0001c0011t0004 a0001c0022t0004 a0008c0007t0003 others(1): Show a0001c0011t0004 a0001c0022t0004 a0008c0007t0003 a0022c0021t0003	a0001c0011t0004g0001 a0001c0011t0004g0002 a0001c0011t0004g0003 others(11): Show a0001c0011t0004g0001 a0001c0011t0004g0002 a0001c0011t0004g0003 a0001c0011t0004g0004 a0001c0011t0004g0005 a0001c0022t0004g0043 a0008c0007t0003g0040 a0008c0007t0003g0041 a0008c0007t0003g0042 a0008c0007t0003g0044 a0008c0007t0003g0045 a0008c0007t0003g0046 a0008c0007t0003g0047 a0022c0021t0003g0048	14	268	0.0522	8	c.112 others(27): Show c.1121+1320_1121+1327dupATTTATTT	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	9/52			chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(1): Show CAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01952.hp1 HG02257.hp1 others(3): Show HG01515.hp2 HG01952.hp1 HG02257.hp1 HG02647.hp1 HG02735.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0030 a0001c0001t0003 a0001c0001t0005 a0001c0001t0030	a0001c0001t0003g0003 a0001c0001t0005g0005 a0001c0001t0030g0003 a0001c0001t0003g0003 a0001c0001t0005g0005 a0001c0001t0030g0003	6	378	0.0159	8	c.-36 others(17): Show c.-361_-360insAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPLX4_chr18_59290402_59323649	59307753	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(87): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00733.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01123.hp2 HG01168.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01433.hp1 HG01934.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18968.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18992.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19009.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19068.hp2 NA19079.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0002c0003t0030	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0018 others(59): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0003g0164 a0001c0001t0005g0140 a0001c0001t0005g0152 a0001c0001t0010g0010 a0001c0001t0010g0016 a0001c0001t0010g0157 a0001c0001t0010g0163 a0001c0001t0010g0171 a0001c0001t0010g0173 a0001c0001t0016g0270 a0001c0001t0016g0271 a0001c0001t0016g0295 a0001c0001t0016g0298 a0001c0001t0019g0193 a0001c0001t0025g0059 a0001c0001t0032g0167 a0001c0001t0033g0154 a0002c0003t0030g0166	90	418	0.2153	8	c.255 others(25): Show c.255+4924_255+4931dupAAAAAAAA	CPLX4	ENSG00000166569.8	transcript	ENST00000299721.3	protein_coding	2/2			chr18	TogoVar
CPLX4_chr18_59290402_59323649	59310947	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03453.hp1 NA18942.hp1 others(5): Show HG02559.hp1 HG03453.hp1 NA18942.hp1 NA18948.hp1 NA18974.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0001 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0141 a0001c0001t0004g0075 a0001c0001t0004g0076 others(3): Show a0001c0001t0001g0141 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0010g0016 a0001c0001t0010g0162	8	418	0.0191	8	c.255 others(25): Show c.255+1730_255+1737dupACACACAC	CPLX4	ENSG00000166569.8	transcript	ENST00000299721.3	protein_coding	2/2			chr18	TogoVar
CPM_chr12_68846175_68938171	68847196	T T	TTATATAT others(1): Show TTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02280.hp1 others(7): Show HG01891.hp2 HG02109.hp1 HG02280.hp1 HG02622.hp1 HG02818.hp2 HG02970.hp2 HG03540.hp1 HG03540.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0002 a0001c0004 a0002c0003 others(2): Show a0001c0002 a0001c0004 a0002c0003 a0003c0011 a0006c0015	a0001c0002t0007 a0001c0004t0012 a0002c0003t0007 others(2): Show a0001c0002t0007 a0001c0004t0012 a0002c0003t0007 a0003c0011t0012 a0006c0015t0041	a0001c0002t0007g0095 a0001c0002t0007g0247 a0001c0004t0012g0162 others(7): Show a0001c0002t0007g0095 a0001c0002t0007g0247 a0001c0004t0012g0162 a0001c0004t0012g0300 a0002c0003t0007g0317 a0002c0003t0007g0320 a0002c0003t0007g0322 a0002c0003t0007g0324 a0003c0011t0012g0028 a0006c0015t0041g0301	10	340	0.0294	8	c.92 others(19): Show c.9233_*9240dupTATATATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3978		chr12	TogoVar
CPM_chr12_68846175_68938171	68847452	C C	CTTTTTTT others(1): Show CTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01261.hp2 others(27): Show HG00099.hp1 HG00741.hp2 HG01261.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG02027.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02818.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03540.hp1 HG03540.hp2 HG04184.hp1 NA18977.hp2 NA18982.hp1 NA19000.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003 a0002c0008 a0003c0011 a0004c0013 a0006c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0024 a0001c0001t0067 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0004t0012 a0001c0006t0012 a0002c0003t0003 a0002c0003t0004 a0002c0003t0007 a0002c0008t0034 a0003c0011t0012 a0004c0013t0004 a0006c0015t0041	a0001c0001t0001g0166 a0001c0001t0001g0238 a0001c0001t0002g0164 others(27): Show a0001c0001t0001g0166 a0001c0001t0001g0238 a0001c0001t0002g0164 a0001c0001t0002g0251 a0001c0001t0004g0112 a0001c0001t0014g0118 a0001c0001t0024g0220 a0001c0001t0067g0083 a0001c0002t0001g0106 a0001c0002t0001g0178 a0001c0002t0001g0283 a0001c0002t0002g0266 a0001c0002t0003g0272 a0001c0002t0004g0246 a0001c0002t0007g0095 a0001c0002t0007g0247 a0001c0004t0012g0162 a0001c0004t0012g0300 a0001c0006t0012g0241 a0002c0003t0003g0315 a0002c0003t0003g0328 a0002c0003t0004g0314 a0002c0003t0007g0317 a0002c0003t0007g0320 a0002c0003t0007g0322 a0002c0003t0007g0324 a0002c0008t0034g0327 a0003c0011t0012g0028 a0004c0013t0004g0027 a0006c0015t0041g0301	30	340	0.0882	8	c.89 others(19): Show c.8977_*8984dupAAAAAAAA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3722		chr12	TogoVar
CPM_chr12_68846175_68938171	68903879	A A	ATTCTTTC others(1): Show ATTCTTTCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02630.hp1 others(4): Show HG02486.hp1 HG02615.hp1 HG02630.hp1 HG02895.hp1 HG02897.hp2 HG03516.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0003 a0002c0003t0004 a0002c0005t0005 others(2): Show a0002c0003t0003 a0002c0003t0004 a0002c0005t0005 a0002c0005t0016 a0002c0005t0023	a0002c0003t0003g0315 a0002c0003t0004g0314 a0002c0005t0005g0014 others(4): Show a0002c0003t0003g0315 a0002c0003t0004g0314 a0002c0005t0005g0014 a0002c0005t0016g0003 a0002c0005t0016g0004 a0002c0005t0023g0011 a0002c0005t0023g0012	7	340	0.0206	8	c.161 others(27): Show c.161-17998_161-17991dupAGAAAGAA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding	2/8			chr12	TogoVar
CPM_chr12_68846175_68938171	68931693	C C	CCGAGATC others(1): Show CCGAGATCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02809.hp1 others(3): Show HG02451.hp1 HG02559.hp1 HG02809.hp1 HG03098.hp1 HG03130.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0009 a0002c0003 a0002c0009	a0002c0003t0003 a0002c0003t0027 a0002c0003t0028 others(2): Show a0002c0003t0003 a0002c0003t0027 a0002c0003t0028 a0002c0003t0030 a0002c0009t0002	a0002c0003t0003g0033 a0002c0003t0027g0005 a0002c0003t0028g0006 others(3): Show a0002c0003t0003g0033 a0002c0003t0027g0005 a0002c0003t0028g0006 a0002c0003t0030g0030 a0002c0009t0002g0031 a0002c0009t0002g0032	6	340	0.0177	8	c.160 others(23): Show c.160+977_160+984dupTGATCTCG	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding	2/8			chr12	TogoVar
CPM_chr12_68846175_68938171	68935243	A A	ATTGTTTG others(1): Show ATTGTTTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03516.hp1 HG03688.hp2 HG03041.hp1 HG03516.hp1 HG03688.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0005 a0001c0007 a0002c0005	a0001c0007t0002 a0002c0005t0005 a0002c0005t0013 a0001c0007t0002 a0002c0005t0005 a0002c0005t0013	a0001c0007t0002g0051 a0002c0005t0005g0014 a0002c0005t0013g0013 a0001c0007t0002g0051 a0002c0005t0005g0014 a0002c0005t0013g0013	3	340	0.0088	8	c.-21 others(19): Show c.-2113_-2106dupACAAACAA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		2073		chr12	TogoVar
CPNE1_chr20_35621044_35669900	35627187	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp1 HG01109.hp1 others(14): Show HG00423.hp2 HG01081.hp1 HG01109.hp1 HG01168.hp1 HG01261.hp1 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03130.hp1 NA18945.hp2 NA18962.hp1 NA18990.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0003 a0008c0012 a0001c0001 a0003c0003 a0008c0012	a0001c0001t0001 a0003c0003t0001 a0008c0012t0001 a0001c0001t0001 a0003c0003t0001 a0008c0012t0001	a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0050 others(14): Show a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0122 a0003c0003t0001g0054 a0003c0003t0001g0055 a0003c0003t0001g0060 a0003c0003t0001g0062 a0003c0003t0001g0064 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0071 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0076 a0003c0003t0001g0077 a0008c0012t0001g0067	17	272	0.0625	8	c.123 others(23): Show c.1236+85_1236+92dupTTTTTTTT	CPNE1	ENSG00000214078.13	transcript	ENST00000397443.7	protein_coding	14/15			chr20	TogoVar
CPNE2_chr16_57087583_57153369	57118648	A A	AGATGGAT others(1): Show AGATGGATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG01109.hp1 others(23): Show HG00280.hp2 HG00544.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02622.hp2 HG02809.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp2 NA18939.hp1 NA18945.hp1 NA18955.hp1 NA18961.hp2 NA19010.hp2 NA19081.hp1 NA19090.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0068 others(21): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0296 a0001c0001t0001g0303 a0001c0001t0001g0312 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0002g0124 a0001c0001t0002g0322 a0001c0001t0003g0306	26	362	0.0718	8	c.508 others(23): Show c.508-511_508-504dupGGATGGAT	CPNE2	ENSG00000140848.17	transcript	ENST00000290776.13	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE2_chr16_57087583_57153369	57118688	G G	GGATGGAT others(1): Show GGATGGATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03831.hp2 HG03927.hp1 HG00323.hp1 HG03831.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0001t0001g0291 a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0001t0001g0291	3	362	0.0083	8	c.508 others(23): Show c.508-504_508-503insGGATAGAT	CPNE2	ENSG00000140848.17	transcript	ENST00000290776.13	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE3_chr8_86509435_86566498	86524848	T T	TTTTCTTT others(1): Show TTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(143): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp2 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0003 a0003c0004 others(3): Show a0001c0001 a0002c0003 a0003c0004 a0004c0006 a0004c0013 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0017 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0003c0004t0004 a0003c0004t0006 a0003c0004t0007 a0003c0004t0009 a0003c0004t0012 a0004c0006t0002 a0004c0006t0005 a0004c0006t0011 a0004c0013t0005 a0005c0007t0010	a0001c0001t0001g0146 a0001c0001t0001g0181 a0001c0001t0001g0183 others(141): Show a0001c0001t0001g0146 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0261 a0001c0001t0001g0275 a0001c0001t0001g0285 a0001c0001t0002g0004 a0001c0001t0002g0141 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0274 a0001c0001t0002g0286 a0001c0001t0003g0153 a0001c0001t0003g0184 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0206 a0001c0001t0003g0213 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0003g0234 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0132 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0160 a0001c0001t0004g0180 a0001c0001t0004g0208 a0001c0001t0004g0232 a0001c0001t0004g0238 a0001c0001t0004g0262 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0007g0134 a0001c0001t0007g0137 a0001c0001t0007g0138 a0001c0001t0010g0177 a0001c0001t0017g0212 a0002c0003t0002g0144 a0002c0003t0004g0198 a0002c0003t0004g0200 a0002c0003t0004g0216 a0002c0003t0004g0224 a0002c0003t0005g0131 a0002c0003t0005g0133 a0002c0003t0005g0139 a0002c0003t0005g0140 a0002c0003t0005g0142 a0002c0003t0005g0143 a0002c0003t0005g0145 a0002c0003t0005g0182 a0002c0003t0005g0214 a0002c0003t0005g0215 a0002c0003t0005g0231 a0003c0004t0004g0156 a0003c0004t0004g0157 a0003c0004t0004g0162 a0003c0004t0004g0165 a0003c0004t0004g0166 a0003c0004t0004g0169 a0003c0004t0004g0179 a0003c0004t0006g0170 a0003c0004t0007g0158 a0003c0004t0007g0168 a0003c0004t0007g0172 a0003c0004t0007g0173 a0003c0004t0007g0175 a0003c0004t0009g0186 a0003c0004t0009g0187 a0003c0004t0012g0282 a0003c0004t0012g0283 a0003c0004t0012g0284 a0004c0006t0002g0163 a0004c0006t0005g0159 a0004c0006t0005g0161 a0004c0006t0005g0174 a0004c0006t0005g0281 a0004c0006t0011g0154 a0004c0006t0011g0155 a0004c0006t0011g0167 a0004c0006t0011g0171 a0004c0013t0005g0164 a0005c0007t0010g0278 a0005c0007t0010g0279 a0005c0007t0010g0280	146	340	0.4294	8	c.-10 others(25): Show c.-10-3672_-10-3665dupCTTTCTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86533024	T T	TTATCTAT others(1): Show TTATCTATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00735.hp2 others(45): Show HG00099.hp2 HG00323.hp1 HG00735.hp2 HG01099.hp2 HG01106.hp1 HG01192.hp1 HG01255.hp2 HG01433.hp1 HG01978.hp1 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp1 NA18941.hp1 NA18973.hp2 NA18978.hp2 NA18980.hp2 NA18986.hp1 NA18998.hp1 NA19012.hp1 NA19030.hp1 NA19057.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19079.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0002 a0002c0003 others(6): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0004 a0004c0006 a0004c0013 a0006c0009 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0002c0003t0004 a0002c0003t0005 a0002c0005t0005 a0003c0004t0006 a0003c0004t0009 a0004c0006t0002 a0004c0006t0005 a0004c0013t0005 a0006c0009t0002 a0007c0011t0005	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0068 others(45): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0002g0005 a0001c0001t0002g0121 a0001c0001t0002g0204 a0001c0001t0003g0036 a0001c0001t0003g0120 a0001c0001t0004g0018 a0001c0001t0004g0035 a0001c0001t0004g0180 a0001c0001t0006g0022 a0001c0001t0009g0019 a0001c0002t0001g0310 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0309 a0001c0002t0002g0311 a0001c0002t0002g0313 a0001c0002t0002g0318 a0001c0002t0002g0329 a0001c0002t0002g0332 a0001c0002t0002g0337 a0001c0002t0003g0334 a0002c0003t0004g0086 a0002c0003t0005g0031 a0002c0003t0005g0080 a0002c0003t0005g0095 a0002c0003t0005g0143 a0002c0005t0005g0185 a0002c0005t0005g0304 a0002c0005t0005g0331 a0003c0004t0006g0170 a0003c0004t0009g0186 a0003c0004t0009g0187 a0003c0004t0009g0188 a0004c0006t0002g0163 a0004c0006t0005g0159 a0004c0006t0005g0161 a0004c0013t0005g0164 a0006c0009t0002g0084 a0007c0011t0005g0312	48	340	0.1412	8	c.459 others(23): Show c.459+482_459+489dupATCTATCT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131586722	C C	CTCTATCT others(1): Show CTCTATCTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02486.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0002g0069 a0001c0001t0001g0016 a0001c0001t0002g0069	2	94	0.0213	8	c.780 others(23): Show c.780+761_780+762insTAGATAGA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	8/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131596157	C C	CAAATAAA others(1): Show CAAATAAAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01496.hp1 HG01884.hp1 others(20): Show HG01069.hp1 HG01496.hp1 HG01884.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp2 HG02896.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03516.hp1 HG04199.hp1 HG04228.hp1 NA18906.hp2 NA18939.hp2 NA18960.hp1 NA18966.hp1 NA18971.hp2 NA18982.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0041 others(20): Show a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0002t0001g0006 a0001c0002t0001g0020 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0002g0082 a0001c0002t0003g0061 a0001c0002t0003g0063 a0001c0002t0011g0094 a0001c0003t0001g0033 a0001c0003t0003g0045 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0002g0081	23	94	0.2447	8	c.682 others(25): Show c.682-8576_682-8575insATTTATTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	7/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131665660	A A	AAAACAAA others(1): Show AAAACAAAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp1 HG01081.hp1 others(55): Show HG00738.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01169.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18939.hp2 NA18946.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18982.hp1 NA18990.hp1 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19083.hp1 NA19083.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0011 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0016 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 others(55): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0003g0037 a0001c0001t0005g0073 a0001c0001t0005g0084 a0001c0001t0006g0003 a0001c0001t0007g0004 a0001c0001t0008g0064 a0001c0001t0008g0066 a0001c0001t0011g0093 a0001c0001t0013g0017 a0001c0002t0001g0006 a0001c0002t0001g0020 a0001c0002t0001g0031 a0001c0002t0001g0039 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0003g0061 a0001c0002t0003g0063 a0001c0002t0009g0068 a0001c0002t0011g0094 a0001c0003t0001g0005 a0001c0003t0001g0014 a0001c0003t0001g0033 a0001c0003t0002g0071 a0001c0003t0003g0045 a0001c0003t0003g0062 a0001c0003t0016g0092 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0055 a0001c0004t0002g0081 a0001c0005t0001g0012	58	94	0.6170	8	c.681 others(25): Show c.681+4007_681+4014dupGTTTGTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	7/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131671458	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18522.hp1 HG03225.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0056 a0001c0003t0002g0089 a0001c0001t0001g0056 a0001c0003t0002g0089	2	94	0.0213	8	c.592 others(25): Show c.592-1695_592-1694insACACACAC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	6/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131708957	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18962.hp2 HG04199.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0002g0085 a0001c0001t0001g0036 a0001c0001t0002g0085	2	94	0.0213	8	c.361 others(25): Show c.361-8985_361-8978dupATATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131773351	A A	ATTATTTA others(1): Show ATTATTTAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01069.hp2 others(62): Show HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01496.hp1 HG01496.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03516.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18946.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18971.hp2 NA18982.hp1 NA18982.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19083.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0012 a0001c0002t0014 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0003t0016 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0005t0015 a0001c0006t0004	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 others(62): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0003g0034 a0001c0001t0003g0038 a0001c0001t0005g0073 a0001c0001t0005g0077 a0001c0001t0007g0002 a0001c0001t0008g0066 a0001c0001t0013g0017 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0003g0061 a0001c0002t0003g0063 a0001c0002t0012g0025 a0001c0002t0014g0065 a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0002g0071 a0001c0003t0002g0089 a0001c0003t0003g0062 a0001c0003t0010g0087 a0001c0003t0016g0092 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0055 a0001c0004t0002g0081 a0001c0004t0010g0086 a0001c0005t0015g0091 a0001c0006t0004g0008	65	94	0.6915	8	c.181 others(27): Show c.181-49734_181-49727dupATAAATAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792925	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02602.hp1 HG02735.hp1 others(5): Show HG01169.hp2 HG02602.hp1 HG02735.hp1 HG02895.hp1 HG03239.hp1 HG03239.hp2 HG04228.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0002t0002	a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0002g0076 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0005g0084 a0001c0001t0009g0067 a0001c0002t0002g0082	8	94	0.0851	8	c.181 others(27): Show c.181-69301_181-69300insTATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792925	G G	GTGTATAT others(1): Show GTGTATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01081.hp2 others(7): Show HG01069.hp1 HG01071.hp2 HG01081.hp2 HG03098.hp1 NA18906.hp1 NA18966.hp1 NA18971.hp1 NA19007.hp1 NA19083.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0009 a0001c0003t0003	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0060 others(7): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0002g0074 a0001c0001t0003g0034 a0001c0002t0001g0020 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0009g0068 a0001c0003t0003g0062	10	94	0.1064	8	c.181 others(27): Show c.181-69301_181-69300insTATATACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792925	G G	GTGTGTAT others(1): Show GTGTGTATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18946.hp1 HG02451.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0010 a0001c0001t0003 a0001c0004t0010	a0001c0001t0003g0037 a0001c0004t0010g0086 a0001c0001t0003g0037 a0001c0004t0010g0086	2	94	0.0213	8	c.181 others(27): Show c.181-69301_181-69300insTATACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131801415	C C	CGTGTGTA others(1): Show CGTGTGTAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 NA18966.hp1 others(1): Show HG01069.hp1 HG01071.hp2 NA18966.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0058 a0001c0001t0003g0034 a0001c0002t0001g0035 others(1): Show a0001c0001t0001g0058 a0001c0001t0003g0034 a0001c0002t0001g0035 a0001c0002t0001g0039	4	94	0.0426	8	c.181 others(27): Show c.181-77791_181-77790insATACACAC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131801448	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20129.hp2 HG01884.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0011 a0001c0001t0011 a0001c0002t0011	a0001c0001t0011g0093 a0001c0002t0011g0094 a0001c0001t0011g0093 a0001c0002t0011g0094	2	94	0.0213	8	c.181 others(27): Show c.181-77824_181-77823insTATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131801452	G G	GTGTGTAT others(1): Show GTGTGTATA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18982.hp2 NA18960.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0007g0002 a0001c0002t0001g0030 a0001c0001t0007g0002 a0001c0002t0001g0030	2	94	0.0213	8	c.181 others(27): Show c.181-77828_181-77827insTATACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131801452	G G	GTGTGTGT others(1): Show GTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03516.hp2 HG02258.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0011 a0001c0001t0001g0021	2	94	0.0213	8	c.181 others(27): Show c.181-77828_181-77827insTACACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131801884	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02615.hp2 others(1): Show HG02257.hp1 HG02258.hp2 HG02615.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0027 a0001c0001t0002g0070 a0001c0001t0002g0072 others(1): Show a0001c0001t0001g0027 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0002t0001g0028	4	94	0.0426	8	c.181 others(27): Show c.181-78267_181-78260dupTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131876239	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02735.hp1 HG01884.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0043 a0001c0005t0001g0012 a0001c0001t0001g0043 a0001c0005t0001g0012	2	94	0.0213	8	c.180 others(27): Show c.180+29017_180+29024dupATTTATTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131911543	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18962.hp1 HG03209.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0073 a0001c0002t0001g0013 a0001c0001t0005g0073 a0001c0002t0001g0013	2	94	0.0213	8	c.-1- others(23): Show c.-1-6107_-1-6100dupCACACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131938424	G G	GATACATA others(1): Show GATACATAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01071.hp2 others(10): Show HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG02486.hp1 HG02735.hp2 NA18939.hp2 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18971.hp1 NA18990.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0002t0009 a0001c0004t0001	a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 others(10): Show a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0003g0034 a0001c0001t0003g0038 a0001c0001t0005g0073 a0001c0001t0009g0067 a0001c0002t0001g0030 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0009g0068 a0001c0004t0001g0055	13	94	0.1383	8	c.-1- others(25): Show c.-1-32981_-1-32980insTTATGTAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131953245	A A	ATAAAAAA others(1): Show ATAAAAAAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04228.hp1 HG04199.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0048 a0001c0002t0001g0049	2	94	0.0213	8	c.-1- others(25): Show c.-1-47802_-1-47801insATTTTTTA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)