Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CPA6_chr8_67417038_67751360	67711720	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02976.hp1 HG03540.hp1 others(1): Show HG02451.hp1 HG02976.hp1 HG03540.hp1 NA18906.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0001 a0001c0001t0004 a0008c0008t0001 a0001c0001t0001 a0001c0001t0004 a0008c0008t0001	a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0004g0094 others(1): Show a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0004g0094 a0008c0008t0001g0124	4	144	0.0278	16	c.116 others(35): Show c.116+34293_116+34294insATGTGTGTGTGTGTGT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67713099	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	144	0.0069	16	c.116 others(35): Show c.116+32914_116+32915insTATACACACACACACA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16894921	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02976.hp2 others(2): Show HG02109.hp1 HG02145.hp2 HG02976.hp2 HG03195.hp1 NA18950.hp1	a0002 a0016 a0031 others(2): Show a0002 a0016 a0031 a0048 a0073	a0002c0017 a0016c0116 a0031c0041 others(2): Show a0002c0017 a0016c0116 a0031c0041 a0048c0168 a0073c0082	a0002c0017t0001 a0016c0116t0001 a0031c0041t0001 others(2): Show a0002c0017t0001 a0016c0116t0001 a0031c0041t0001 a0048c0168t0001 a0073c0082t0001	a0002c0017t0001g0162 a0016c0116t0001g0010 a0031c0041t0001g0216 others(2): Show a0002c0017t0001g0162 a0016c0116t0001g0010 a0031c0041t0001g0216 a0048c0168t0001g0272 a0073c0082t0001g0069	5	278	0.0180	16	c.542 others(35): Show c.5426+1239_5426+1254dupGTGTGTGTGTGTGTGT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	41/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16906337	C C	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0002 a0004c0014t0002	a0004c0014t0002g0222 a0004c0014t0002g0222	1	278	0.0036	16	c.402 others(33): Show c.4027+599_4027+614dupAAAGAAAGAAAGAAAG	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	30/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16906383	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0035 a0035	a0035c0026 a0035c0026	a0035c0026t0001 a0035c0026t0001	a0035c0026t0001g0233 a0035c0026t0001g0234 a0035c0026t0001g0233 a0035c0026t0001g0234	2	278	0.0072	16	c.402 others(33): Show c.4027+568_4027+569insGGAAGGAAGGAAGGAA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	30/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16906391	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0026 a0026	a0026c0127 a0026c0127	a0026c0127t0001 a0026c0127t0001	a0026c0127t0001g0240 a0026c0127t0001g0240	1	278	0.0036	16	c.402 others(33): Show c.4027+560_4027+561insGGAAGGAAGGAAGGAA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	30/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16906407	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0098 a0098	a0098c0172 a0098c0172	a0098c0172t0001 a0098c0172t0001	a0098c0172t0001g0006 a0098c0172t0001g0006	1	278	0.0036	16	c.402 others(33): Show c.4027+529_4027+544dupGGAAGGAAGGAAGGAA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	30/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16906407	T T	TTTCTTTC others(9): Show TTTCTTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03098.hp2 HG02257.hp1 HG03098.hp2	a0010 a0042 a0010 a0042	a0010c0004 a0042c0175 a0010c0004 a0042c0175	a0010c0004t0001 a0042c0175t0001 a0010c0004t0001 a0042c0175t0001	a0010c0004t0001g0068 a0042c0175t0001g0075 a0010c0004t0001g0068 a0042c0175t0001g0075	2	278	0.0072	16	c.402 others(33): Show c.4027+544_4027+545insGGAAGGAAGGAAAGAA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	30/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16906407	T T	TTTCTTTC others(9): Show TTTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0034 a0034	a0034c0071 a0034c0071	a0034c0071t0001 a0034c0071t0001	a0034c0071t0001g0070 a0034c0071t0001g0070	1	278	0.0036	16	c.402 others(33): Show c.4027+544_4027+545insGGAAGGAAAGAAAGAA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	30/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16906407	T T	TTTCTTTC others(9): Show TTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0061 a0061	a0061c0142 a0061c0142	a0061c0142t0002 a0061c0142t0002	a0061c0142t0002g0015 a0061c0142t0002g0015	1	278	0.0036	16	c.402 others(33): Show c.4027+544_4027+545insGGAAAGAAAGAAAGAA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	30/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16937063	G G	GCCTTCCT others(9): Show GCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02886.hp1 HG01891.hp2 HG02257.hp1 HG02886.hp1	a0002 a0042 a0100 a0002 a0042 a0100	a0002c0176 a0042c0175 a0100c0068 a0002c0176 a0042c0175 a0100c0068	a0002c0176t0001 a0042c0175t0001 a0100c0068t0002 a0002c0176t0001 a0042c0175t0001 a0100c0068t0002	a0002c0176t0001g0014 a0042c0175t0001g0075 a0100c0068t0002g0159 a0002c0176t0001g0014 a0042c0175t0001g0075 a0100c0068t0002g0159	3	278	0.0108	16	c.284 others(35): Show c.2845+1316_2845+1331dupAAGGAAGGAAGGAAGG	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	23/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16979269	G G	GCCATCCA others(9): Show GCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp2 HG01975.hp1 others(6): Show HG00741.hp2 HG01884.hp2 HG01975.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03704.hp1 NA20129.hp1	a0021 a0023 a0039 others(6): Show a0021 a0023 a0039 a0061 a0063 a0118 a0119 a0120 a0121	a0021c0143 a0023c0075 a0039c0076 others(6): Show a0021c0143 a0023c0075 a0039c0076 a0061c0142 a0063c0144 a0118c0139 a0119c0140 a0120c0164 a0121c0163	a0021c0143t0001 a0023c0075t0001 a0039c0076t0001 others(6): Show a0021c0143t0001 a0023c0075t0001 a0039c0076t0001 a0061c0142t0002 a0063c0144t0001 a0118c0139t0001 a0119c0140t0002 a0120c0164t0001 a0121c0163t0002	a0021c0143t0001g0012 a0023c0075t0001g0137 a0039c0076t0001g0126 others(6): Show a0021c0143t0001g0012 a0023c0075t0001g0137 a0039c0076t0001g0126 a0061c0142t0002g0015 a0063c0144t0001g0118 a0118c0139t0001g0108 a0119c0140t0002g0111 a0120c0164t0001g0013 a0121c0163t0002g0107	9	278	0.0324	16	c.158 others(35): Show c.1585+1212_1585+1227dupATGGATGGATGGATGG	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	14/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16983399	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03927.hp2 HG02683.hp2 HG03927.hp2	a0083 a0084 a0083 a0084	a0083c0112 a0084c0111 a0083c0112 a0084c0111	a0083c0112t0001 a0084c0111t0001 a0083c0112t0001 a0084c0111t0001	a0083c0112t0001g0096 a0084c0111t0001g0097 a0083c0112t0001g0096 a0084c0111t0001g0097	2	278	0.0072	16	c.139 others(35): Show c.1396-2729_1396-2714dupATTTATTTATTTATTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16985342	C C	CGGATGGA others(9): Show CGGATGGATGGATGGAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(106): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18985.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19067.hp2 NA19081.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(46): Show a0001 a0002 a0004 a0007 a0010 a0011 a0012 a0016 a0021 a0023 a0024 a0028 a0037 a0038 a0042 a0043 a0044 a0045 a0056 a0058 a0059 a0060 a0065 a0068 a0070 a0071 a0075 a0077 a0078 a0079 a0080 a0083 a0084 a0085 a0086 a0087 a0091 a0092 a0093 a0095 a0096 a0097 a0098 a0099 a0108 a0111 a0112 a0113 a0115	a0001c0001 a0001c0007 a0001c0013 others(71): Show a0001c0001 a0001c0007 a0001c0013 a0001c0033 a0002c0017 a0002c0018 a0002c0019 a0002c0056 a0002c0058 a0002c0059 a0002c0062 a0002c0120 a0004c0005 a0004c0014 a0004c0100 a0004c0180 a0007c0016 a0007c0052 a0007c0053 a0007c0119 a0007c0170 a0010c0004 a0011c0012 a0011c0084 a0011c0090 a0012c0028 a0012c0029 a0012c0083 a0016c0185 a0021c0037 a0023c0031 a0024c0030 a0024c0092 a0028c0181 a0028c0182 a0037c0093 a0038c0099 a0038c0109 a0042c0174 a0042c0175 a0043c0022 a0044c0021 a0045c0118 a0056c0072 a0058c0158 a0059c0156 a0060c0157 a0065c0101 a0068c0095 a0070c0096 a0071c0097 a0075c0108 a0077c0087 a0078c0086 a0079c0085 a0080c0089 a0083c0112 a0084c0111 a0085c0063 a0086c0179 a0087c0178 a0091c0055 a0092c0173 a0093c0177 a0095c0057 a0096c0061 a0097c0171 a0098c0172 a0099c0054 a0108c0183 a0111c0124 a0112c0135 a0113c0136 a0115c0123	a0001c0001t0002 a0001c0007t0002 a0001c0013t0001 others(71): Show a0001c0001t0002 a0001c0007t0002 a0001c0013t0001 a0001c0033t0002 a0002c0017t0001 a0002c0018t0001 a0002c0019t0001 a0002c0056t0001 a0002c0058t0002 a0002c0059t0001 a0002c0062t0002 a0002c0120t0001 a0004c0005t0002 a0004c0014t0002 a0004c0100t0002 a0004c0180t0001 a0007c0016t0001 a0007c0052t0002 a0007c0053t0001 a0007c0119t0001 a0007c0170t0002 a0010c0004t0001 a0011c0012t0002 a0011c0084t0001 a0011c0090t0001 a0012c0028t0002 a0012c0029t0001 a0012c0083t0001 a0016c0185t0001 a0021c0037t0002 a0023c0031t0001 a0024c0030t0001 a0024c0092t0001 a0028c0181t0002 a0028c0182t0001 a0037c0093t0001 a0038c0099t0002 a0038c0109t0002 a0042c0174t0001 a0042c0175t0001 a0043c0022t0001 a0044c0021t0002 a0045c0118t0001 a0056c0072t0001 a0058c0158t0001 a0059c0156t0002 a0060c0157t0002 a0065c0101t0001 a0068c0095t0002 a0070c0096t0002 a0071c0097t0001 a0075c0108t0001 a0077c0087t0001 a0078c0086t0001 a0079c0085t0001 a0080c0089t0002 a0083c0112t0001 a0084c0111t0001 a0085c0063t0001 a0086c0179t0001 a0087c0178t0001 a0091c0055t0001 a0092c0173t0001 a0093c0177t0001 a0095c0057t0002 a0096c0061t0001 a0097c0171t0002 a0098c0172t0001 a0099c0054t0001 a0108c0183t0001 a0111c0124t0002 a0112c0135t0002 a0113c0136t0002 a0115c0123t0001	a0001c0001t0002g0048 a0001c0001t0002g0147 a0001c0001t0002g0158 others(106): Show a0001c0001t0002g0048 a0001c0001t0002g0147 a0001c0001t0002g0158 a0001c0001t0002g0185 a0001c0001t0002g0199 a0001c0001t0002g0219 a0001c0001t0002g0248 a0001c0001t0002g0266 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0007t0002g0036 a0001c0007t0002g0053 a0001c0007t0002g0221 a0001c0007t0002g0246 a0001c0013t0001g0261 a0001c0033t0002g0002 a0001c0033t0002g0027 a0002c0017t0001g0112 a0002c0017t0001g0113 a0002c0017t0001g0162 a0002c0018t0001g0099 a0002c0018t0001g0115 a0002c0018t0001g0116 a0002c0019t0001g0008 a0002c0019t0001g0139 a0002c0056t0001g0081 a0002c0058t0002g0149 a0002c0059t0001g0044 a0002c0062t0002g0176 a0002c0120t0001g0074 a0004c0005t0002g0042 a0004c0005t0002g0046 a0004c0005t0002g0146 a0004c0005t0002g0188 a0004c0005t0002g0211 a0004c0014t0002g0222 a0004c0014t0002g0223 a0004c0100t0002g0054 a0004c0180t0001g0041 a0007c0016t0001g0123 a0007c0016t0001g0124 a0007c0052t0002g0119 a0007c0053t0001g0156 a0007c0119t0001g0122 a0007c0170t0002g0117 a0010c0004t0001g0088 a0010c0004t0001g0089 a0010c0004t0001g0201 a0010c0004t0001g0243 a0010c0004t0001g0254 a0011c0012t0002g0202 a0011c0012t0002g0207 a0011c0084t0001g0181 a0011c0090t0001g0255 a0012c0028t0002g0073 a0012c0028t0002g0177 a0012c0029t0001g0151 a0012c0029t0001g0152 a0012c0083t0001g0132 a0016c0185t0001g0058 a0021c0037t0002g0256 a0023c0031t0001g0025 a0023c0031t0001g0026 a0024c0030t0001g0148 a0024c0030t0001g0173 a0024c0092t0001g0260 a0028c0181t0002g0060 a0028c0182t0001g0062 a0037c0093t0001g0274 a0038c0099t0002g0224 a0038c0109t0002g0165 a0042c0174t0001g0160 a0042c0175t0001g0075 a0043c0022t0001g0203 a0043c0022t0001g0232 a0044c0021t0002g0085 a0044c0021t0002g0269 a0045c0118t0001g0024 a0056c0072t0001g0094 a0058c0158t0001g0230 a0059c0156t0002g0259 a0060c0157t0002g0142 a0065c0101t0001g0001 a0068c0095t0002g0064 a0070c0096t0002g0251 a0071c0097t0001g0182 a0075c0108t0001g0141 a0077c0087t0001g0225 a0078c0086t0001g0242 a0079c0085t0001g0047 a0080c0089t0002g0250 a0083c0112t0001g0096 a0084c0111t0001g0097 a0085c0063t0001g0018 a0086c0179t0001g0102 a0087c0178t0001g0103 a0091c0055t0001g0121 a0092c0173t0001g0164 a0093c0177t0001g0072 a0095c0057t0002g0134 a0096c0061t0001g0168 a0097c0171t0002g0163 a0098c0172t0001g0006 a0099c0054t0001g0003 a0108c0183t0001g0056 a0111c0124t0002g0050 a0112c0135t0002g0268 a0113c0136t0002g0169 a0115c0123t0001g0226	109	278	0.3921	16	c.139 others(35): Show c.1395+4285_1395+4300dupATCCATCCATCCATCC	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16987179	A A	AAAAAAAA others(9): Show AAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0088 a0088	a0088c0047 a0088c0047	a0088c0047t0001 a0088c0047t0001	a0088c0047t0001g0161 a0088c0047t0001g0161	1	278	0.0036	16	c.139 others(35): Show c.1395+2463_1395+2464insATATATATATTTTTTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16990863	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG02647.hp1 others(1): Show HG01891.hp2 HG02572.hp1 HG02647.hp1 HG03195.hp2	a0016 a0028 a0100 others(1): Show a0016 a0028 a0100 a0101	a0016c0185 a0028c0182 a0100c0068 others(1): Show a0016c0185 a0028c0182 a0100c0068 a0101c0126	a0016c0185t0001 a0028c0182t0001 a0100c0068t0002 others(1): Show a0016c0185t0001 a0028c0182t0001 a0100c0068t0002 a0101c0126t0001	a0016c0185t0001g0058 a0028c0182t0001g0062 a0100c0068t0002g0159 others(1): Show a0016c0185t0001g0058 a0028c0182t0001g0062 a0100c0068t0002g0159 a0101c0126t0001g0061	4	278	0.0144	16	c.126 others(35): Show c.1267-1108_1267-1093dupTTTTTTTTTTTTTTTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	12/41			chr19	TogoVar
CPB1_chr3_148822811_148865187	148833739	T T	TTAAAAAA others(9): Show TTAAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0166	1	456	0.0022	16	c.148 others(31): Show c.148-758_148-743dupTAAAAAAAAAAAAACA	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02615.hp2 NA19056.hp1 HG01934.hp2 HG02615.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0128 a0001c0001t0001g0202 a0001c0001t0001g0068 a0001c0001t0001g0128 a0001c0001t0001g0202	3	456	0.0066	16	c.981 others(33): Show c.981+1201_981+1216dupATATATATATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTATGTAT others(9): Show GTATGTATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0391 a0002c0002t0001g0391	1	456	0.0022	16	c.981 others(33): Show c.981+1174_981+1175insGTATATATATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTATAT others(9): Show GTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA19004.hp1 HG00140.hp2 NA19004.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0080 a0003c0003t0001g0233 a0001c0001t0001g0080 a0003c0003t0001g0233	2	456	0.0044	16	c.981 others(33): Show c.981+1172_981+1173insGTATATATATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTGTGT others(9): Show GTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19078.hp2 NA19057.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0120 a0001c0001t0001g0121	2	456	0.0044	16	c.981 others(33): Show c.981+1172_981+1173insGTGTGTATATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTGTGT others(9): Show GTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	456	0.0022	16	c.981 others(33): Show c.981+1172_981+1173insGTGTGTGTATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01081.hp1 others(3): Show HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01243.hp2 HG04199.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0282 a0001c0001t0001g0283 others(3): Show a0001c0001t0001g0195 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0381	6	456	0.0132	16	c.981 others(33): Show c.981+1172_981+1173insGTGTGTGTGTATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPEB1_chr15_82538201_82652363	82542204	C C	CTTTATTT others(9): Show CTTTATTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00741.hp2 others(22): Show HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01106.hp2 HG01257.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01978.hp2 HG02004.hp2 HG02257.hp1 HG02258.hp2 HG02572.hp2 HG02683.hp2 HG02723.hp2 HG02896.hp2 HG02970.hp1 HG03041.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0009 a0001c0001t0015 others(4): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0015 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0002c0002t0023	a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0090 others(22): Show a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0101 a0001c0001t0004g0103 a0001c0001t0004g0328 a0001c0001t0004g0330 a0001c0001t0009g0232 a0001c0001t0009g0233 a0001c0001t0009g0234 a0001c0001t0009g0235 a0001c0001t0009g0238 a0001c0001t0009g0239 a0001c0001t0015g0236 a0001c0001t0025g0088 a0001c0001t0027g0094 a0001c0001t0028g0099 a0001c0001t0028g0100 a0002c0002t0023g0024	25	354	0.0706	16	c.23 others(27): Show c.2387_*2388insTAAATAAATAAATAAA	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding		996		chr15	TogoVar
CPEB1_chr15_82538201_82652363	82579918	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	354	0.0028	16	c.272 others(33): Show c.272-8402_272-8387dupTTTTTTTTTTTTTTTT	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB1_chr15_82538201_82652363	82584903	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0049 a0002c0003t0049	a0002c0003t0049g0231 a0002c0003t0049g0231	1	354	0.0028	16	c.272 others(35): Show c.272-13387_272-13372dupAAAAAAAAAAAAAAAA	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB1_chr15_82538201_82652363	82652112	C C	CTTATTTA others(9): Show CTTATTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 NA18970.hp1 NA19000.hp2 others(1): Show HG02300.hp2 NA18970.hp1 NA19000.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0261 a0001c0001t0019g0262 a0001c0001t0019g0263 others(1): Show a0001c0001t0019g0261 a0001c0001t0019g0262 a0001c0001t0019g0263 a0001c0001t0019g0264	4	354	0.0113	16	c.-50 others(27): Show c.-5074_-5073insATAAATAAATAAATAA	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding		4750		chr15	TogoVar
CPEB1_chr15_82538201_82652363	82652115	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG00735.hp1 others(17): Show HG00639.hp2 HG00733.hp2 HG00735.hp1 HG01257.hp1 HG01361.hp1 HG01891.hp1 HG02647.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 NA18967.hp2 NA18969.hp1 NA18980.hp2 NA18983.hp1 NA18997.hp2 NA19004.hp1 NA19074.hp2 NA19084.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0033 a0001c0001t0036	a0001c0001t0001g0245 a0001c0001t0001g0277 a0001c0001t0001g0288 others(17): Show a0001c0001t0001g0245 a0001c0001t0001g0277 a0001c0001t0001g0288 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0334 a0001c0001t0004g0205 a0001c0001t0011g0298 a0001c0001t0011g0309 a0001c0001t0011g0318 a0001c0001t0012g0299 a0001c0001t0012g0349 a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0014g0213 a0001c0001t0014g0214 a0001c0001t0014g0215 a0001c0001t0017g0339 a0001c0001t0033g0104 a0001c0001t0036g0083	20	354	0.0565	16	c.-50 others(27): Show c.-5077_-5076insTAAATAAATAAATAAA	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding		4753		chr15	TogoVar
CPEB2_chr4_14997481_15075151	15018969	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0048 a0004c0004t0006g0048	1	288	0.0035	16	c.212 others(35): Show c.2125+1692_2125+1693insTATATATATATATACA	CPEB2	ENSG00000137449.17	transcript	ENST00000538197.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPEB3_chr10_92041692_92296078	92048387	T T	TCACACAC others(9): Show TCACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01433.hp2 HG02055.hp2 others(10): Show HG00639.hp1 HG01433.hp2 HG02055.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0248 others(10): Show a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0254 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0271	13	278	0.0468	16	c.38 others(27): Show c.3809_*3824dupTGTGTGTGTGTGTGTG	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	10/10	3824		chr10	TogoVar
CPEB3_chr10_92041692_92296078	92048387	T T	TCTCACAC others(9): Show TCTCACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0253 a0001c0001t0025g0253	1	278	0.0036	16	c.38 others(27): Show c.3824_*3825insTGTGTGTGTGTGTGAG	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	10/10	3824		chr10	TogoVar
CPEB3_chr10_92041692_92296078	92258625	A A	AACTAATA others(9): Show AACTAATATACATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	278	0.0036	16	c.-11 others(35): Show c.-11-18265_-11-18264insATATATGTATATTAGT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92258625	A A	AACTAATA others(9): Show AACTAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	278	0.0036	16	c.-11 others(35): Show c.-11-18265_-11-18264insATATATATATATTAGT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289718	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	278	0.0036	16	c.-12 others(33): Show c.-12+1207_-12+1208insTTTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289732	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01361.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0233 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0233	3	278	0.0108	16	c.-12 others(33): Show c.-12+1193_-12+1194insATTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB4_chr5_173883349_173966980	173892997	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0155 a0001c0001t0006g0155	1	372	0.0027	16	c.112 others(35): Show c.1125+2164_1125+2179dupTGTGTGTGTGTGTGTG	CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPEB4_chr5_173883349_173966980	173938861	A A	ATATAATA others(9): Show ATATAATATATAGCTAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0096 a0001c0001t0006g0096	1	372	0.0027	16	c.125 others(35): Show c.1259-4165_1259-4164insTATAATATATAGCTAT	CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding	3/9			chr5	TogoVar
CPED1_chr7_120983711_121302442	120994625	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0115 a0003c0006t0001g0115	1	140	0.0071	16	c.249 others(33): Show c.249+4775_249+4790dupGTGTGTGTGTGTGTGT	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(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02922.hp1 HG02109.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0118 a0001c0001t0003g0008 a0001c0001t0001g0118 a0001c0001t0003g0008	2	140	0.0143	16	c.616 others(35): Show c.616+10199_616+10214dupTTTTTTTTTTTTTTTT	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(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	140	0.0071	16	c.617 others(35): Show c.617-10033_617-10032insTTTTTTTTTTTTTTTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121088763	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp1 HG02970.hp1 others(3): Show HG02055.hp2 HG02622.hp1 HG02970.hp1 NA18941.hp2 NA18998.hp1 NA18998.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0010 a0002c0002 a0006c0010	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0006c0010t0002	a0002c0002t0001g0070 a0002c0002t0001g0074 a0002c0002t0002g0063 others(3): Show a0002c0002t0001g0070 a0002c0002t0001g0074 a0002c0002t0002g0063 a0002c0002t0005g0005 a0002c0002t0005g0007 a0006c0010t0002g0111	6	140	0.0429	16	c.617 others(33): Show c.617-8922_617-8907dupAAAAAAAAAAAAAAAA	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(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02809.hp1 NA18979.hp2 others(1): Show HG01192.hp1 HG02809.hp1 NA18979.hp2 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0034 a0002c0002t0001g0036 a0002c0002t0001g0140 others(1): Show a0001c0001t0002g0034 a0002c0002t0001g0036 a0002c0002t0001g0140 a0002c0002t0002g0063	4	140	0.0286	16	c.617 others(33): Show c.617-4286_617-4271dupCACACACACACACACA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121129291	A A	ATATATAT others(9): Show ATATATATATATACACG	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA19030.hp1 HG01928.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0009 a0001c0003t0003 a0001c0003t0009	a0001c0003t0003g0022 a0001c0003t0009g0117 a0001c0003t0003g0022 a0001c0003t0009g0117	2	140	0.0143	16	c.140 others(33): Show c.1407+817_1407+818insCACGTATATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121172661	C C	CATAGATA others(9): Show CATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00621.hp2 others(22): Show HG00408.hp2 HG00558.hp1 HG00621.hp2 HG01081.hp2 HG01433.hp2 HG01496.hp2 HG01928.hp2 HG01978.hp2 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02976.hp2 HG03139.hp1 HG03579.hp2 NA18522.hp1 NA18979.hp1 NA18998.hp2 NA19030.hp2 NA19075.hp1 NA19240.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0005c0011 a0005c0012	a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 others(11): Show a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0004t0001 a0002c0004t0002 a0005c0011t0001 a0005c0012t0001	a0001c0001t0005g0018 a0001c0001t0006g0124 a0001c0003t0001g0038 others(22): Show a0001c0001t0005g0018 a0001c0001t0006g0124 a0001c0003t0001g0038 a0001c0003t0003g0004 a0001c0003t0003g0022 a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0004g0066 a0002c0002t0001g0055 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0098 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0002g0063 a0002c0002t0002g0069 a0002c0002t0002g0103 a0002c0002t0003g0020 a0002c0002t0004g0135 a0002c0002t0005g0006 a0002c0004t0001g0114 a0002c0004t0002g0044 a0002c0004t0002g0112 a0005c0011t0001g0052 a0005c0012t0001g0079	25	140	0.1786	16	c.205 others(37): Show c.2055+30547_2055+30562dupAGATAGATAGATAGAT	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(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp1 HG01071.hp1 others(4): Show HG00558.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG03139.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0002	a0001c0001t0001g0047 a0001c0001t0001g0090 a0001c0001t0001g0106 others(4): Show a0001c0001t0001g0047 a0001c0001t0001g0090 a0001c0001t0001g0106 a0001c0001t0002g0122 a0001c0001t0005g0003 a0001c0003t0002g0127 a0001c0003t0002g0128	7	140	0.0500	16	c.205 others(37): Show c.2056-46931_2056-46916dupTATATATATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121199689	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01884.hp1 others(4): Show HG01070.hp2 HG01071.hp2 HG01884.hp1 HG03540.hp2 HG03579.hp2 NA18941.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0001c0003t0003 a0002c0002t0002 others(1): Show a0001c0003t0001 a0001c0003t0003 a0002c0002t0002 a0002c0002t0004	a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0082 others(4): Show a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0082 a0001c0003t0003g0024 a0002c0002t0002g0065 a0002c0002t0004g0133 a0002c0002t0004g0134	7	140	0.0500	16	c.205 others(37): Show c.2056-37022_2056-37021insGAAAGAAAGAAAGAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121294806	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0053 a0001c0008t0006g0053	1	140	0.0071	16	c.286 others(33): Show c.2869-633_2869-618dupAAAAAAAAAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121295140	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG06807.hp2 NA19075.hp2 HG02809.hp2 HG06807.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0003t0008 a0001c0001t0002 a0001c0001t0004 a0001c0003t0008	a0001c0001t0002g0132 a0001c0001t0004g0064 a0001c0003t0008g0045 a0001c0001t0002g0132 a0001c0001t0004g0064 a0001c0003t0008g0045	3	140	0.0214	16	c.286 others(33): Show c.2869-280_2869-265dupCACACACACACACACA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPHXL_chr16_75709131_75731490	75725753	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18952.hp1 NA18975.hp2 others(3): Show HG00621.hp1 NA18952.hp1 NA18975.hp2 NA19002.hp1 NA19062.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	6	388	0.0155	16	c.25+ others(29): Show c.25+649_25+664dupAAAAAAAAAAAAAAAA	CPHXL	ENSG00000283755.2	transcript	ENST00000640559.2	protein_coding	1/2			chr16	TogoVar
CPLANE1_chr5_37101235_37254376	37123930	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0003 a0008c0007t0003	a0008c0007t0003g0042 a0008c0007t0003g0042	1	268	0.0037	16	c.895 others(35): Show c.8958+1298_8958+1313dupGTGTGTGTGTGTGTGT	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	47/52			chr5	TogoVar

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