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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CPA2_chr7_130261863_130294798	130267832	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG06807.hp1 HG01243.hp2 HG02559.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0061 a0001c0001t0001g0264 a0001c0002t0001g0169 a0001c0001t0001g0061 a0001c0001t0001g0264 a0001c0002t0001g0169	3	400	0.0075	11	c.71+ others(24): Show c.71+883_71+884insTTTCTTTCTTC	CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA3_chr3_148860296_148902203	148899547	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 NA18906.hp1 NA18943.hp2 others(4): Show HG00438.hp1 NA18906.hp1 NA18943.hp2 NA18959.hp1 NA18959.hp2 NA19076.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0026 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0143 a0001c0001t0001g0167 a0001c0001t0001g0201	7	400	0.0175	11	c.28 others(22): Show c.2840_*2841insAAAAAAAAAAA	CPA3	ENSG00000163751.4	transcript	ENST00000296046.4	protein_coding		2345		chr3	TogoVar
CPA6_chr8_67417038_67751360	67673381	T T	TTATTATT others(4): Show TTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19043.hp1 HG01884.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0142 a0002c0002t0001g0141 a0001c0001t0001g0142 a0002c0002t0001g0141	2	144	0.0139	11	c.117 others(30): Show c.117-49131_117-49130insTAATAATAATA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67681200	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02723.hp1 others(2): Show HG01884.hp1 HG02109.hp2 HG02723.hp1 HG02896.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0140 a0001c0001t0001g0142 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0002c0002t0001g0109	5	144	0.0347	11	c.117 others(30): Show c.117-56960_117-56950dupAAAAAAAAAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67749708	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03041.hp2 HG03225.hp1 others(1): Show HG02922.hp1 HG03041.hp2 HG03225.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0125 a0001c0001t0001g0131 a0002c0002t0001g0130 others(1): Show a0001c0001t0001g0125 a0001c0001t0001g0131 a0002c0002t0001g0130 a0002c0002t0001g0134	4	144	0.0278	11	c.-35 others(22): Show c.-3580_-3579insAAAAAAAAAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding		3349		chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16888396	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01981.hp1 HG02056.hp1 others(26): Show HG01099.hp2 HG01981.hp1 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02257.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp1 NA18943.hp1 NA18965.hp2 NA19000.hp2 NA19002.hp1 NA19011.hp2 NA19043.hp1 NA19066.hp1 NA19085.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0004 others(20): Show a0001 a0002 a0004 a0006 a0009 a0011 a0012 a0014 a0016 a0017 a0020 a0023 a0024 a0029 a0033 a0043 a0053 a0065 a0071 a0072 a0087 a0088 a0092	a0001c0013 a0002c0017 a0002c0056 others(23): Show a0001c0013 a0002c0017 a0002c0056 a0004c0180 a0006c0006 a0009c0042 a0011c0084 a0012c0083 a0014c0077 a0016c0050 a0016c0185 a0017c0044 a0017c0147 a0020c0011 a0023c0075 a0024c0030 a0029c0067 a0033c0040 a0043c0022 a0053c0149 a0065c0101 a0071c0097 a0072c0081 a0087c0178 a0088c0047 a0092c0173	a0001c0013t0001 a0002c0017t0001 a0002c0056t0001 others(23): Show a0001c0013t0001 a0002c0017t0001 a0002c0056t0001 a0004c0180t0001 a0006c0006t0001 a0009c0042t0001 a0011c0084t0001 a0012c0083t0001 a0014c0077t0001 a0016c0050t0001 a0016c0185t0001 a0017c0044t0001 a0017c0147t0001 a0020c0011t0001 a0023c0075t0001 a0024c0030t0001 a0029c0067t0001 a0033c0040t0001 a0043c0022t0001 a0053c0149t0001 a0065c0101t0001 a0071c0097t0001 a0072c0081t0001 a0087c0178t0001 a0088c0047t0001 a0092c0173t0001	a0001c0013t0001g0138 a0002c0017t0001g0162 a0002c0056t0001g0081 others(26): Show a0001c0013t0001g0138 a0002c0017t0001g0162 a0002c0056t0001g0081 a0004c0180t0001g0041 a0006c0006t0001g0205 a0006c0006t0001g0220 a0009c0042t0001g0206 a0011c0084t0001g0181 a0012c0083t0001g0132 a0014c0077t0001g0249 a0016c0050t0001g0095 a0016c0185t0001g0058 a0017c0044t0001g0076 a0017c0044t0001g0077 a0017c0147t0001g0009 a0020c0011t0001g0020 a0023c0075t0001g0137 a0024c0030t0001g0148 a0024c0030t0001g0173 a0029c0067t0001g0004 a0033c0040t0001g0043 a0043c0022t0001g0232 a0053c0149t0001g0106 a0065c0101t0001g0001 a0071c0097t0001g0182 a0072c0081t0001g0067 a0087c0178t0001g0103 a0088c0047t0001g0161 a0092c0173t0001g0164	29	278	0.1043	11	c.47 others(22): Show c.4711_*4712insAAAAAAAAAAA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding		4554		chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16987179	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0002 a0005c0003t0002	a0005c0003t0002g0125 a0005c0003t0002g0125	1	278	0.0036	11	c.139 others(30): Show c.1395+2463_1395+2464insATATATATTTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16990863	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp1 HG01167.hp2 others(15): Show HG01070.hp1 HG01081.hp1 HG01167.hp2 HG01175.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG02040.hp1 HG02148.hp2 HG02300.hp2 HG03471.hp1 HG03491.hp2 HG03669.hp2 HG03704.hp2 NA18612.hp1 NA19065.hp2 NA20805.hp1 NA20905.hp2	a0005 a0006 a0014 others(9): Show a0005 a0006 a0014 a0022 a0026 a0027 a0046 a0105 a0111 a0115 a0116 a0122	a0005c0003 a0006c0006 a0014c0105 others(10): Show a0005c0003 a0006c0006 a0014c0105 a0022c0032 a0026c0034 a0026c0127 a0027c0035 a0046c0036 a0105c0128 a0111c0124 a0115c0123 a0116c0138 a0122c0162	a0005c0003t0002 a0006c0006t0001 a0014c0105t0001 others(10): Show a0005c0003t0002 a0006c0006t0001 a0014c0105t0001 a0022c0032t0001 a0026c0034t0002 a0026c0127t0001 a0027c0035t0001 a0046c0036t0001 a0105c0128t0002 a0111c0124t0002 a0115c0123t0001 a0116c0138t0001 a0122c0162t0001	a0005c0003t0002g0166 a0005c0003t0002g0167 a0005c0003t0002g0236 others(15): Show a0005c0003t0002g0166 a0005c0003t0002g0167 a0005c0003t0002g0236 a0006c0006t0001g0086 a0006c0006t0001g0131 a0006c0006t0001g0183 a0006c0006t0001g0205 a0014c0105t0001g0140 a0022c0032t0001g0229 a0026c0034t0002g0032 a0026c0127t0001g0240 a0027c0035t0001g0172 a0046c0036t0001g0204 a0105c0128t0002g0127 a0111c0124t0002g0050 a0115c0123t0001g0226 a0116c0138t0001g0028 a0122c0162t0001g0019	18	278	0.0648	11	c.126 others(30): Show c.1267-1103_1267-1093dupTTTTTTTTTTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	12/41			chr19	TogoVar
CPEB1_chr15_82538201_82652363	82574722	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02523.hp2 HG02886.hp2 others(3): Show HG01346.hp2 HG02523.hp2 HG02886.hp2 NA18906.hp2 NA18995.hp2 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0025 a0002c0002t0003 a0001c0001t0004 a0001c0001t0025 a0002c0002t0003	a0001c0001t0004g0207 a0001c0001t0025g0206 a0002c0002t0003g0060 others(3): Show a0001c0001t0004g0207 a0001c0001t0025g0206 a0002c0002t0003g0060 a0002c0002t0003g0062 a0002c0002t0003g0064 a0002c0002t0003g0080	6	354	0.0170	11	c.272 others(28): Show c.272-3201_272-3191dupTTTTTTTTTTT	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB1_chr15_82538201_82652363	82579918	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19088.hp1 HG00558.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0304 a0001c0001t0001g0305	2	354	0.0057	11	c.272 others(28): Show c.272-8397_272-8387dupTTTTTTTTTTT	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB1_chr15_82538201_82652363	82584903	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(47): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG01952.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG04115.hp1 HG04184.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18966.hp2 NA18967.hp1 NA18979.hp1 NA18982.hp2 NA19000.hp1 NA19030.hp2 NA19056.hp2 NA19066.hp1 NA19075.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 others(13): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0020 a0001c0001t0024 a0001c0001t0026 a0001c0001t0036 a0001c0006t0003 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0023 a0002c0002t0040 a0002c0002t0044	a0001c0001t0009g0232 a0001c0001t0009g0234 a0001c0001t0009g0239 others(47): Show a0001c0001t0009g0232 a0001c0001t0009g0234 a0001c0001t0009g0239 a0001c0001t0010g0197 a0001c0001t0010g0227 a0001c0001t0015g0236 a0001c0001t0020g0198 a0001c0001t0024g0116 a0001c0001t0026g0190 a0001c0001t0036g0083 a0001c0006t0003g0111 a0002c0002t0002g0105 a0002c0002t0002g0142 a0002c0002t0002g0174 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0219 a0002c0002t0003g0007 a0002c0002t0003g0009 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0017 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0003g0034 a0002c0002t0003g0046 a0002c0002t0003g0053 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0063 a0002c0002t0003g0068 a0002c0002t0003g0071 a0002c0002t0003g0075 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0080 a0002c0002t0003g0082 a0002c0002t0003g0343 a0002c0002t0006g0241 a0002c0002t0007g0014 a0002c0002t0007g0016 a0002c0002t0007g0079 a0002c0002t0007g0342 a0002c0002t0008g0006 a0002c0002t0008g0041 a0002c0002t0008g0066 a0002c0002t0023g0022 a0002c0002t0023g0023 a0002c0002t0040g0076 a0002c0002t0044g0031	50	354	0.1412	11	c.272 others(30): Show c.272-13382_272-13372dupAAAAAAAAAAA	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB3_chr10_92041692_92296078	92059325	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00609.hp1 others(62): Show HG00140.hp2 HG00423.hp1 HG00609.hp1 HG00642.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18952.hp2 NA18954.hp1 NA18962.hp2 NA18968.hp2 NA18975.hp2 NA18979.hp1 NA18995.hp2 NA18999.hp2 NA19007.hp1 NA19009.hp1 NA19068.hp1 NA19074.hp1 NA19082.hp1 NA19240.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0026 a0001c0001t0040 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0010 a0001c0002t0014 a0001c0002t0028 a0001c0007t0009	a0001c0001t0001g0111 a0001c0001t0002g0002 a0001c0001t0002g0003 others(62): Show a0001c0001t0001g0111 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0232 a0001c0001t0007g0150 a0001c0001t0007g0151 a0001c0001t0007g0152 a0001c0001t0007g0208 a0001c0001t0009g0112 a0001c0001t0010g0110 a0001c0001t0010g0118 a0001c0001t0010g0119 a0001c0001t0011g0217 a0001c0001t0015g0198 a0001c0001t0015g0211 a0001c0001t0017g0123 a0001c0001t0017g0128 a0001c0001t0026g0127 a0001c0001t0040g0276 a0001c0002t0001g0033 a0001c0002t0001g0055 a0001c0002t0001g0072 a0001c0002t0001g0086 a0001c0002t0001g0092 a0001c0002t0001g0095 a0001c0002t0003g0048 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0059 a0001c0002t0003g0062 a0001c0002t0003g0064 a0001c0002t0003g0085 a0001c0002t0003g0087 a0001c0002t0003g0091 a0001c0002t0007g0081 a0001c0002t0007g0099 a0001c0002t0010g0047 a0001c0002t0014g0060 a0001c0002t0014g0076 a0001c0002t0014g0090 a0001c0002t0028g0061 a0001c0007t0009g0040	65	278	0.2338	11	c.187 others(30): Show c.1870-6887_1870-6886insTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	9/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92190665	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0013 a0002c0005t0013	a0002c0005t0013g0266 a0002c0005t0013g0266	1	278	0.0036	11	c.116 others(30): Show c.1165+1801_1165+1811dupTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	3/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289718	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp2 HG01081.hp2 others(32): Show HG00438.hp2 HG00738.hp2 HG01081.hp2 HG01243.hp2 HG01928.hp1 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02273.hp2 HG02572.hp2 HG02698.hp2 HG02723.hp2 HG02886.hp1 HG03098.hp2 HG03139.hp2 HG03669.hp1 HG03710.hp2 HG03927.hp2 HG04199.hp1 HG04228.hp2 NA18946.hp1 NA18961.hp2 NA18966.hp1 NA18970.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18989.hp1 NA18998.hp1 NA19011.hp1 NA19057.hp1 NA19058.hp2 NA19081.hp2 NA19085.hp1 NA19089.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0011 a0001c0001t0037 a0001c0002t0001 others(7): Show a0001c0001t0011 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0029 a0001c0002t0030 a0001c0002t0041 a0001c0002t0042 a0004c0008t0002	a0001c0001t0011g0272 a0001c0001t0037g0273 a0001c0002t0001g0033 others(31): Show a0001c0001t0011g0272 a0001c0001t0037g0273 a0001c0002t0001g0033 a0001c0002t0002g0001 a0001c0002t0002g0008 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0056 a0001c0002t0002g0058 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0082 a0001c0002t0004g0070 a0001c0002t0004g0088 a0001c0002t0004g0094 a0001c0002t0029g0069 a0001c0002t0030g0057 a0001c0002t0041g0071 a0001c0002t0042g0032 a0004c0008t0002g0009	35	278	0.1259	11	c.-12 others(28): Show c.-12+1197_-12+1207dupTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289732	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03831.hp2 HG00609.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0122 a0001c0001t0017g0123 a0001c0001t0003g0122 a0001c0001t0017g0123	2	278	0.0072	11	c.-12 others(28): Show c.-12+1193_-12+1194insATTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289732	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03834.hp1 HG02132.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0111 a0001c0001t0010g0110 a0001c0001t0001g0111 a0001c0001t0010g0110	2	278	0.0072	11	c.-12 others(28): Show c.-12+1193_-12+1194insATATTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB4_chr5_173883349_173966980	173892274	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02145.hp2 HG03139.hp2 others(1): Show HG02071.hp2 HG02145.hp2 HG03139.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0022 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0022 a0001c0001t0049	a0001c0001t0002g0268 a0001c0001t0015g0309 a0001c0001t0022g0310 others(1): Show a0001c0001t0002g0268 a0001c0001t0015g0309 a0001c0001t0022g0310 a0001c0001t0049g0267	4	372	0.0108	11	c.112 others(30): Show c.1125+1421_1125+1431dupTTTTTTTTTTT	CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPEB4_chr5_173883349_173966980	173964529	G G	GGGGTGGG others(4): Show GGGGTGGGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02572.hp1 others(4): Show HG01243.hp1 HG01884.hp1 HG02572.hp1 HG02717.hp1 HG03209.hp1 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0192 a0001c0001t0005g0200 others(4): Show a0001c0001t0005g0038 a0001c0001t0005g0192 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0204	7	372	0.0188	11	c.83 others(22): Show c.8392_*8393insGGGTGGGGTGA	CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding		2550		chr5	TogoVar
CPED1_chr7_120983711_121302442	121044648	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01978.hp1 HG01361.hp2 HG01978.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0062 a0002c0002t0002g0139 a0001c0001t0002g0062 a0002c0002t0002g0139	2	140	0.0143	11	c.434 others(28): Show c.434-2238_434-2237insTTTTTTTTTTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121074509	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	140	0.0071	11	c.616 others(30): Show c.616+10204_616+10214dupTTTTTTTTTTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121087665	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp1 HG02717.hp2 others(6): Show HG02055.hp1 HG02647.hp1 HG02717.hp2 HG02896.hp2 HG03139.hp2 HG03209.hp1 HG06807.hp1 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0008 a0001c0001 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0007t0006 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0007t0006 a0001c0008t0006	a0001c0001t0001g0047 a0001c0001t0001g0095 a0001c0001t0001g0096 others(6): Show a0001c0001t0001g0047 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0109 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0124 a0001c0007t0006g0107 a0001c0008t0006g0053	9	140	0.0643	11	c.617 others(30): Show c.617-10033_617-10032insTTTTTTTTTTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121199689	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0108 a0001c0007t0001g0108	1	140	0.0071	11	c.205 others(32): Show c.2056-37023_2056-37022insGAAAGAAAGAA	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(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01070.hp2 HG01071.hp2 others(35): Show HG00639.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03579.hp1 HG03710.hp1 HG04184.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0015 others(6): Show a0001c0001 a0001c0003 a0001c0015 a0002c0002 a0002c0004 a0003c0005 a0003c0006 a0003c0016 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0003t0003 a0001c0003t0009 a0001c0015t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0004t0001 a0002c0004t0002 a0003c0005t0003 a0003c0006t0001 a0003c0016t0005 a0006c0010t0002	a0001c0001t0001g0047 a0001c0001t0001g0083 a0001c0001t0001g0085 others(35): Show a0001c0001t0001g0047 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0002g0062 a0001c0001t0002g0088 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0004g0041 a0001c0001t0004g0077 a0001c0001t0010g0121 a0001c0003t0003g0004 a0001c0003t0003g0022 a0001c0003t0003g0024 a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0009g0117 a0001c0015t0002g0123 a0002c0002t0001g0055 a0002c0002t0001g0080 a0002c0002t0002g0137 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0005g0005 a0002c0002t0005g0007 a0002c0004t0001g0114 a0002c0004t0002g0044 a0002c0004t0002g0110 a0002c0004t0002g0112 a0002c0004t0002g0113 a0002c0004t0002g0119 a0003c0005t0003g0017 a0003c0006t0001g0039 a0003c0006t0001g0040 a0003c0006t0001g0115 a0003c0016t0005g0015 a0006c0010t0002g0111	38	140	0.2714	11	c.217 others(30): Show c.2174-3432_2174-3422dupAAAAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPE_chr4_165374008_165503547	165459686	G G	GGGGGGGG others(4): Show GGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18967.hp2 NA20805.hp1 HG02109.hp1 NA18967.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0298 a0001c0001t0002g0316 a0001c0001t0002g0053 a0001c0001t0002g0298 a0001c0001t0002g0316	3	332	0.0090	11	c.308 others(28): Show c.308-4702_308-4701insGGGGGGGGTGG	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPE_chr4_165374008_165503547	165461182	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp1 HG02486.hp1 others(11): Show HG01109.hp1 HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02896.hp2 HG02970.hp1 HG03195.hp1 HG03471.hp1 NA18522.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0005t0002	a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0176 others(11): Show a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0194 a0001c0001t0001g0326 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0286 a0001c0004t0002g0048 a0001c0005t0002g0238 a0001c0005t0002g0310	14	332	0.0422	11	c.308 others(28): Show c.308-3206_308-3205insGAAAGAAAGAA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPLANE1_chr5_37101235_37254376	37154459	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01099.hp2 others(8): Show HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01257.hp1 HG02486.hp1 HG02698.hp1 HG03041.hp1 HG03710.hp1 HG06807.hp1 NA18979.hp2 NA21309.hp1	a0002 a0004 a0012 others(1): Show a0002 a0004 a0012 a0019	a0002c0002 a0004c0003 a0012c0018 others(1): Show a0002c0002 a0004c0003 a0012c0018 a0019c0036	a0002c0002t0001 a0002c0002t0014 a0004c0003t0001 others(2): Show a0002c0002t0001 a0002c0002t0014 a0004c0003t0001 a0012c0018t0001 a0019c0036t0001	a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0019 others(8): Show a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0019 a0002c0002t0001g0029 a0002c0002t0014g0013 a0004c0003t0001g0022 a0004c0003t0001g0240 a0004c0003t0001g0241 a0004c0003t0001g0246 a0012c0018t0001g0036 a0019c0036t0001g0033	11	268	0.0410	11	c.812 others(28): Show c.8120-477_8120-467dupAAAAAAAAAAA	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	41/52			chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37187060	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG03098.hp1 HG02109.hp1 HG02145.hp2 HG03098.hp1	a0006 a0007 a0008 a0006 a0007 a0008	a0006c0005 a0007c0006 a0008c0007 a0006c0005 a0007c0006 a0008c0007	a0006c0005t0002 a0007c0006t0001 a0008c0007t0003 a0006c0005t0002 a0007c0006t0001 a0008c0007t0003	a0006c0005t0002g0253 a0007c0006t0001g0151 a0008c0007t0003g0044 a0006c0005t0002g0253 a0007c0006t0001g0151 a0008c0007t0003g0044	3	268	0.0112	11	c.408 others(28): Show c.4080+343_4080+353dupTTTTTTTTTTT	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	23/52			chr5	TogoVar
CPLX1_chr4_779957_831129	783059	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01517.hp2 HG01884.hp1 others(24): Show HG01167.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp1 NA18906.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 others(2): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 a0001c0001t0021 a0002c0002t0007	a0001c0001t0007g0254 a0001c0001t0008g0008 a0001c0001t0008g0016 others(23): Show a0001c0001t0007g0254 a0001c0001t0008g0008 a0001c0001t0008g0016 a0001c0001t0008g0046 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0008g0131 a0001c0001t0008g0132 a0001c0001t0008g0220 a0001c0001t0008g0247 a0001c0001t0008g0260 a0001c0001t0008g0265 a0001c0001t0008g0284 a0001c0001t0008g0295 a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0335 a0001c0001t0008g0336 a0001c0001t0008g0339 a0001c0001t0008g0342 a0001c0001t0008g0343 a0001c0001t0008g0344 a0001c0001t0008g0345 a0001c0001t0018g0024 a0001c0001t0021g0323 a0002c0002t0007g0183	27	416	0.0649	11	c.34 others(22): Show c.3441_*3442insTTTTTTTTTTT	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		1897		chr4	TogoVar
CPLX1_chr4_779957_831129	826351	G G	GGGGGTGG others(4): Show GGGGGTGGACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0370 a0001c0001t0006g0370	1	416	0.0024	11	c.-38 others(20): Show c.-386_-385insGGGTCCACCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		223		chr4	TogoVar
CPLX1_chr4_779957_831129	826435	G G	GGGGGCGG others(4): Show GGGGGCGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0370 a0001c0001t0006g0370	1	416	0.0024	11	c.-47 others(20): Show c.-470_-469insGCCCCCGCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		307		chr4	TogoVar
CPLX1_chr4_779957_831129	826442	G G	GGGGGTGG others(4): Show GGGGGTGGACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0342 a0001c0001t0008g0342	1	416	0.0024	11	c.-47 others(20): Show c.-477_-476insGGGTCCACCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		314		chr4	TogoVar
CPLX4_chr18_59290402_59323649	59307753	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp2 NA19030.hp2 HG02717.hp2 HG02818.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0018 a0001c0001t0014 a0001c0001t0018	a0001c0001t0014g0063 a0001c0001t0014g0064 a0001c0001t0018g0057 a0001c0001t0014g0063 a0001c0001t0014g0064 a0001c0001t0018g0057	3	418	0.0072	11	c.255 others(28): Show c.255+4921_255+4931dupAAAAAAAAAAA	CPLX4	ENSG00000166569.8	transcript	ENST00000299721.3	protein_coding	2/2			chr18	TogoVar
CPM_chr12_68846175_68938171	68847452	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0050 a0001c0002t0031g0050	1	340	0.0029	11	c.89 others(22): Show c.8974_*8984dupAAAAAAAAAAA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3722		chr12	TogoVar
CPM_chr12_68846175_68938171	68931763	A A	AAAAAAAG others(4): Show AAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0013 a0002c0005t0013	a0002c0005t0013g0010 a0002c0005t0013g0010	1	340	0.0029	11	c.160 others(26): Show c.160+914_160+915insCTTTCTTTTTT	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding	2/8			chr12	TogoVar
CPNE1_chr20_35621044_35669900	35627187	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00738.hp1 HG01069.hp2 others(20): Show HG00597.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01192.hp1 HG01346.hp1 HG02004.hp2 HG02109.hp1 HG02258.hp2 HG02717.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03471.hp2 HG03490.hp2 NA18950.hp1 NA18959.hp1 NA18964.hp2 NA19058.hp2 NA19077.hp1 NA20752.hp1 NA20805.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0011 a0003c0003 others(1): Show a0002c0002 a0002c0011 a0003c0003 a0003c0013	a0002c0002t0001 a0002c0011t0001 a0003c0003t0001 others(1): Show a0002c0002t0001 a0002c0011t0001 a0003c0003t0001 a0003c0013t0001	a0002c0002t0001g0018 a0002c0002t0001g0080 a0002c0002t0001g0082 others(19): Show a0002c0002t0001g0018 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0106 a0002c0002t0001g0109 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0011t0001g0078 a0003c0003t0001g0073 a0003c0013t0001g0070	23	272	0.0846	11	c.123 others(26): Show c.1236+82_1236+92dupTTTTTTTTTTT	CPNE1	ENSG00000214078.13	transcript	ENST00000397443.7	protein_coding	14/15			chr20	TogoVar
CPNE2_chr16_57087583_57153369	57096105	G G	GTTTAAAT others(4): Show GTTTAAATGAGT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	362	0.0028	11	c.-36 others(28): Show c.-36+3317_-36+3318insTAAATGAGTTT	CPNE2	ENSG00000140848.17	transcript	ENST00000290776.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE3_chr8_86509435_86566498	86522548	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0290 a0002c0005t0005g0290	1	340	0.0029	11	c.-10 others(28): Show c.-10-5969_-10-5959dupTTTTTTTTTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86527946	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp1 HG00642.hp1 others(14): Show HG00544.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG01099.hp1 HG01243.hp2 HG02071.hp1 HG02083.hp2 NA18943.hp1 NA18945.hp2 NA18956.hp1 NA18957.hp1 NA18973.hp1 NA18986.hp2 NA19003.hp2 NA19088.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 others(14): Show a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0235 a0001c0001t0002g0191 a0001c0001t0002g0233 a0001c0001t0002g0266 a0001c0001t0002g0286 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0223 a0001c0001t0003g0234 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241	17	340	0.0500	11	c.-10 others(26): Show c.-10-575_-10-565dupTTTTTTTTTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86552962	G G	GCCCCCCC others(4): Show GCCCCCCCCACC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0294 a0001c0002t0019g0294	1	340	0.0029	11	c.112 others(30): Show c.1120+1736_1120+1737insACCCCCCCCCC	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86552962	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19009.hp2 NA19090.hp2 others(1): Show HG00735.hp1 NA19009.hp2 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 others(1): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0097	4	340	0.0118	11	c.112 others(30): Show c.1120+1734_1120+1744dupCCCCCCCCCCC	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131650744	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02258.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0021 a0001c0004t0002g0081 a0001c0001t0001g0021 a0001c0004t0002g0081	2	94	0.0213	11	c.681 others(30): Show c.681+18920_681+18930dupTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	7/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131698233	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02683.hp1 HG03239.hp2 others(3): Show HG01884.hp1 HG02683.hp1 HG03239.hp2 HG03516.hp1 NA18966.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0011 a0001c0004t0001	a0001c0001t0001g0041 a0001c0001t0001g0057 a0001c0001t0002g0083 others(3): Show a0001c0001t0001g0041 a0001c0001t0001g0057 a0001c0001t0002g0083 a0001c0002t0001g0039 a0001c0002t0011g0094 a0001c0004t0001g0007	6	94	0.0638	11	c.433 others(28): Show c.433-1628_433-1618dupTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	4/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131801884	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01069.hp2 others(25): Show HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01169.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG02735.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp1 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA19007.hp2 NA19030.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0009 a0001c0003t0002 a0001c0003t0016 a0001c0005t0004 a0001c0005t0015	a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(25): Show a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0003g0034 a0001c0001t0003g0038 a0001c0001t0005g0077 a0001c0002t0001g0006 a0001c0002t0001g0029 a0001c0002t0001g0039 a0001c0002t0001g0049 a0001c0002t0009g0068 a0001c0003t0002g0089 a0001c0003t0016g0092 a0001c0005t0004g0024 a0001c0005t0004g0026 a0001c0005t0015g0091	28	94	0.2979	11	c.181 others(30): Show c.181-78270_181-78260dupTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131848959	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0093 a0001c0001t0011g0093	1	94	0.0106	11	c.180 others(30): Show c.180+56304_180+56305insGTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131876641	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp2 NA18906.hp2 HG02572.hp1 HG02615.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0001t0001 a0001c0001t0002 a0001c0004t0002	a0001c0001t0001g0010 a0001c0001t0002g0070 a0001c0004t0002g0081 a0001c0001t0001g0010 a0001c0001t0002g0070 a0001c0004t0002g0081	3	94	0.0319	11	c.180 others(30): Show c.180+28612_180+28622dupTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131876653	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18939.hp1 HG01496.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0014 a0001c0002t0001 a0001c0002t0014	a0001c0002t0001g0031 a0001c0002t0014g0065 a0001c0002t0001g0031 a0001c0002t0014g0065	2	94	0.0213	11	c.180 others(30): Show c.180+28610_180+28611insCTTTCTTTCTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131942514	G G	GAGAGAGA others(4): Show GAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	94	0.0106	11	c.-1- others(28): Show c.-1-37071_-1-37070insTCTCTCTCTCT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131955410	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	94	0.0106	11	c.-1- others(28): Show c.-1-49977_-1-49967dupAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131993472	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02922.hp2 others(2): Show HG01884.hp2 HG02451.hp1 HG02922.hp2 HG03098.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0002t0001 a0001c0004t0010 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0004t0010 a0001c0005t0001	a0001c0001t0002g0088 a0001c0002t0001g0013 a0001c0002t0001g0020 others(2): Show a0001c0001t0002g0088 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0004t0010g0086 a0001c0005t0001g0012	5	94	0.0532	11	c.-2+ others(28): Show c.-2+41084_-2+41094dupTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131999241	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02922.hp1 others(1): Show HG02257.hp2 HG02559.hp1 HG02922.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0004t0001 a0001c0006t0004 a0001c0001t0001 a0001c0004t0001 a0001c0006t0004	a0001c0001t0001g0016 a0001c0001t0001g0060 a0001c0004t0001g0009 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0060 a0001c0004t0001g0009 a0001c0006t0004g0008	4	94	0.0426	11	c.-2+ others(28): Show c.-2+35315_-2+35325dupTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar

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