JoGo: Joint Open Genome and Omics Platform

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
CORO7_chr16_4349542_4421596	4374086	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA20129.hp2 HG03471.hp1 NA20129.hp2	a0001 a0018 a0001 a0018	a0001c0002 a0018c0016 a0001c0002 a0018c0016	a0001c0002t0001 a0018c0016t0003 a0001c0002t0001 a0018c0016t0003	a0001c0002t0001g0275 a0018c0016t0003g0259 a0001c0002t0001g0275 a0018c0016t0003g0259	2	297	0.0067	20	c.786 others(37): Show c.786-8561_786-8542dupACACACACACACACACACAC	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	9/27			chr16	TogoVar
COTL1_chr16_84560596_84623078	84581163	A A	ATATGTAT others(13): Show ATATGTATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(93): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03579.hp1 HG03669.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18955.hp2 NA18959.hp1 NA18961.hp2 NA18963.hp2 NA18968.hp2 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19002.hp1 NA19004.hp2 NA19009.hp1 NA19012.hp1 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025	a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0059 others(92): Show a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0168 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0002g0143 a0001c0001t0002g0257 a0001c0001t0002g0398 a0001c0001t0002g0399 a0001c0001t0002g0416 a0001c0001t0002g0427 a0001c0001t0003g0019 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0054 a0001c0001t0003g0095 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0114 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0137 a0001c0001t0003g0157 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0180 a0001c0001t0003g0186 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0232 a0001c0001t0003g0241 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0282 a0001c0001t0003g0292 a0001c0001t0003g0301 a0001c0001t0003g0304 a0001c0001t0003g0318 a0001c0001t0003g0326 a0001c0001t0003g0341 a0001c0001t0003g0364 a0001c0001t0003g0372 a0001c0001t0003g0378 a0001c0001t0003g0401 a0001c0001t0003g0402 a0001c0001t0003g0410 a0001c0001t0003g0414 a0001c0001t0003g0417 a0001c0001t0003g0419 a0001c0001t0004g0132 a0001c0001t0004g0136 a0001c0001t0004g0363 a0001c0001t0004g0375 a0001c0001t0005g0063 a0001c0001t0005g0423 a0001c0001t0006g0014 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0262 a0001c0001t0006g0283 a0001c0001t0006g0319 a0001c0001t0006g0400 a0001c0001t0009g0233 a0001c0001t0009g0258 a0001c0001t0009g0261 a0001c0001t0011g0005 a0001c0001t0012g0246 a0001c0001t0013g0008 a0001c0001t0021g0374 a0001c0001t0023g0051 a0001c0001t0024g0371 a0001c0001t0025g0264	96	440	0.2182	20	c.318 others(37): Show c.318+8941_318+8942insCATACATACATACATACATA	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	3/3			chr16	TogoVar
COTL1_chr16_84560596_84623078	84591823	C C	CAAATAAA others(13): Show CAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG01928.hp2 others(13): Show HG00621.hp1 HG00639.hp1 HG01928.hp2 HG02280.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG03041.hp2 HG03098.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA18966.hp1 NA19030.hp1 NA19082.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0022 a0001c0001t0001g0059 a0001c0001t0001g0215 others(13): Show a0001c0001t0001g0022 a0001c0001t0001g0059 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0002g0332 a0001c0001t0003g0024 a0001c0001t0003g0304 a0001c0001t0004g0172 a0001c0001t0005g0240 a0001c0001t0006g0370	16	440	0.0364	20	c.161 others(37): Show c.161-1581_161-1562dupTATTTTATTTTATTTTATTT	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	2/3			chr16	TogoVar
COTL1_chr16_84560596_84623078	84615853	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0254 a0001c0001t0004g0254	1	440	0.0023	20	c.160 others(37): Show c.160+1628_160+1647dupCACACACACACACACACACA	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	2/3			chr16	TogoVar
COTL1_chr16_84560596_84623078	84616504	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01169.hp1 others(6): Show HG01109.hp1 HG01167.hp1 HG01169.hp1 HG02572.hp1 HG02818.hp1 HG02886.hp1 HG03098.hp1 HG03471.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0247 a0001c0001t0002g0016 a0001c0001t0004g0013 others(6): Show a0001c0001t0001g0247 a0001c0001t0002g0016 a0001c0001t0004g0013 a0001c0001t0004g0015 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0006g0014 a0001c0001t0011g0248 a0001c0001t0012g0246	9	440	0.0205	20	c.160 others(35): Show c.160+977_160+996dupATTTATTTATTTATTTATTT	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	2/3			chr16	TogoVar
COX10_chr17_14064504_14213677	14163236	A A	AATTTATT others(13): Show AATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp2 NA18612.hp2 others(4): Show HG01074.hp2 HG01167.hp2 NA18612.hp2 NA18948.hp1 NA19066.hp1 NA19079.hp2 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0009 others(1): Show a0001c0003 a0002c0002 a0003c0009 a0003c0010	a0001c0003t0006 a0002c0002t0002 a0002c0002t0003 others(3): Show a0001c0003t0006 a0002c0002t0002 a0002c0002t0003 a0003c0009t0006 a0003c0010t0006 a0003c0010t0018	a0001c0003t0006g0112 a0002c0002t0002g0240 a0002c0002t0003g0211 others(4): Show a0001c0003t0006g0112 a0002c0002t0002g0240 a0002c0002t0003g0211 a0003c0009t0006g0097 a0003c0010t0006g0086 a0003c0010t0006g0089 a0003c0010t0018g0093	7	322	0.0217	20	c.695 others(37): Show c.695+3307_695+3326dupTTTATTTATTTATTTATTTA	COX10	ENSG00000006695.12	transcript	ENST00000261643.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
COX14_chr12_50107236_50125453	50112907	C C	CGTTATGT others(13): Show CGTTATGTTATGTTATGTTAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp1 HG01261.hp2 others(29): Show HG00280.hp2 HG01175.hp1 HG01261.hp2 HG01346.hp2 HG01978.hp1 HG02040.hp1 HG02040.hp2 HG02109.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02896.hp2 HG02970.hp2 HG03139.hp2 HG03225.hp1 HG03942.hp2 NA18942.hp1 NA18950.hp1 NA18950.hp2 NA18962.hp1 NA18967.hp1 NA18983.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp2 NA19058.hp2 NA19062.hp2 NA19074.hp2 NA19078.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0026 others(20): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072	32	418	0.0766	20	c.-9+ others(33): Show c.-9+627_-9+646dupGTTATGTTATGTTATGTTAT	COX14	ENSG00000178449.9	transcript	ENST00000550487.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
COX16_chr14_70320081_70364683	70328072	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18949.hp1 HG02040.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0189 a0001c0001t0002g0172 a0001c0001t0002g0189	2	376	0.0053	20	c.204 others(37): Show c.204+1082_204+1101dupAAAAAAAAAAAAAAAAAAAA	COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	3/3			chr14	TogoVar
COX16_chr14_70320081_70364683	70344961	A A	AACAGCAT others(13): Show AACAGCATGTTGCTCCTCACC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG02897.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097	3	376	0.0080	20	c.70- others(35): Show c.70-2252_70-2233dupGGTGAGGAGCAACATGCTGT	COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	1/3			chr14	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	384	0.0026	20	c.434 others(35): Show c.434+164_434+165insATATATATATTTTTTTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG04184.hp2 HG04204.hp2 others(1): Show HG02895.hp2 HG04184.hp2 HG04204.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(1): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0141	4	384	0.0104	20	c.434 others(35): Show c.434+164_434+165insATATATATATATATTTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX4I2_chr20_31632912_31650006	31634652	A A	ATTTATTT others(13): Show ATTTATTTATTTATTTATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01070.hp2 others(35): Show HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01975.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA19043.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(17): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0002c0002t0001g0016	38	300	0.1267	20	c.-33 others(31): Show c.-3311_-3310insTTTATTTATTTATTTATTTT	COX4I2	ENSG00000131055.5	transcript	ENST00000376075.4	protein_coding		3259		chr20	TogoVar
COX6A2_chr16_31422731_31433360	31427940	C C	CCCCCCCC others(13): Show CCCCCCCCCGCCCCCGCAGCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02886.hp1 HG02922.hp1 others(1): Show HG02258.hp1 HG02886.hp1 HG02922.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0018 a0001c0001t0001g0027	4	412	0.0097	20	c.210 others(33): Show c.210+55_210+74dupTGCTGCGGGGGCGGGGGGGG	COX6A2	ENSG00000156885.6	transcript	ENST00000287490.5	protein_coding	2/2			chr16	TogoVar
COX6B1_chr19_35643323_35663782	35644862	G G	GTCAAACC others(13): Show GTCAAACCTCTTCGCGCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	440	0.0023	20	c.-35 others(31): Show c.-3553_-3552insTCAAACCTCTTCGCGCGTGC	COX6B1	ENSG00000126267.11	transcript	ENST00000649813.2	protein_coding		3460		chr19	TogoVar
COX6B2_chr19_55344704_55359719	55354273	A A	AGGCCCCG others(13): Show AGGCCCCGCCCCCACCAACCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG01891.hp2 others(32): Show HG00735.hp2 HG01109.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19064.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0017 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0005g0011 a0001c0001t0008g0016 a0001c0001t0009g0057 a0001c0001t0017g0037 a0002c0002t0001g0024	35	390	0.0897	20	c.112 others(35): Show c.112+117_112+136dupGGGTTGGTGGGGGCGGGGCC	COX6B2	ENSG00000160471.13	transcript	ENST00000326529.9	protein_coding	2/4			chr19	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 NA18986.hp1 NA21309.hp1 HG00099.hp1 NA18986.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0003 a0001c0001t0003 a0003c0003t0003	a0001c0001t0003g0003 a0001c0001t0003g0045 a0003c0003t0003g0012 a0001c0001t0003g0003 a0001c0001t0003g0045 a0003c0003t0003g0012	3	406	0.0074	20	c.-31 others(31): Show c.-3109_-3090dupTTTTTTTTTTTTTTTTTTTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
COX7A2_chr6_75232787_75248801	75248081	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG01109.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0019 a0001c0001t0001g0029	2	382	0.0052	20	c.-43 others(31): Show c.-4367_-4348dupAAAAAAAAAAAAAAAAAAAA	COX7A2	ENSG00000112695.13	transcript	ENST00000684430.2	protein_coding		4281		chr6	TogoVar
COX7B2_chr4_46729827_46914245	46750195	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	300	0.0033	20	c.-49 others(39): Show c.-49-14974_-49-14955dupGTGTGTGTGTGTGTGTGTGT	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754716	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	300	0.0033	20	c.-49 others(39): Show c.-49-19476_-49-19475insTATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754718	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19002.hp1 HG01109.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0155 a0001c0001t0003g0201 a0001c0001t0001g0155 a0001c0001t0003g0201	2	300	0.0067	20	c.-49 others(39): Show c.-49-19478_-49-19477insTATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754720	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	300	0.0033	20	c.-49 others(39): Show c.-49-19480_-49-19479insTATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754724	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03579.hp2 NA18906.hp2 HG03486.hp2 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0080 a0001c0001t0001g0296 a0001c0001t0001g0297	3	300	0.0100	20	c.-49 others(39): Show c.-49-19484_-49-19483insTATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754726	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG06807.hp1 NA20129.hp1 HG03579.hp1 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0140 a0001c0001t0001g0191 a0001c0001t0002g0047 a0001c0001t0001g0140 a0001c0001t0001g0191 a0001c0001t0002g0047	3	300	0.0100	20	c.-49 others(39): Show c.-49-19486_-49-19485insTATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03654.hp1 HG03942.hp1 others(1): Show HG00544.hp2 HG03654.hp1 HG03942.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0280 a0001c0001t0001g0287 others(1): Show a0001c0001t0001g0205 a0001c0001t0001g0280 a0001c0001t0001g0287 a0001c0001t0001g0288	4	300	0.0133	20	c.-49 others(39): Show c.-49-19507_-49-19488dupTATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	300	0.0033	20	c.-49 others(39): Show c.-49-19488_-49-19487insTATATATATATATATACACA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46907848	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01243.hp1 HG01358.hp2 others(5): Show HG00544.hp1 HG01243.hp1 HG01358.hp2 HG02165.hp2 HG02970.hp2 NA18943.hp1 NA18981.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 others(5): Show a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0070	8	300	0.0267	20	c.-10 others(39): Show c.-105+1292_-105+1311dupAAAAAAAAAAAAAAAAAAAA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	1/2			chr4	TogoVar
CPA1_chr7_130375494_130393108	130392347	G G	GACACACA others(13): Show GACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	20	c.43 others(31): Show c.4336_*4337insACACACACACACACACACAC	CPA1	ENSG00000091704.10	transcript	ENST00000011292.8	protein_coding		4240		chr7	TogoVar
CPA2_chr7_130261863_130294798	130267773	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18973.hp1 NA18952.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	400	0.0050	20	c.71+ others(33): Show c.71+824_71+825insCTCTCTCTTTCTTTCTTTCT	CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA2_chr7_130261863_130294798	130267773	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG00733.hp2 others(18): Show HG00621.hp2 HG00639.hp2 HG00733.hp2 HG02135.hp1 HG02145.hp2 HG02523.hp2 HG02922.hp1 HG03831.hp1 NA18944.hp1 NA18947.hp1 NA18980.hp1 NA18987.hp1 NA18988.hp1 NA18999.hp2 NA19011.hp2 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19075.hp1 NA19077.hp1 NA19082.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0004c0004	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0004c0004t0001	a0001c0001t0001g0013 a0001c0001t0001g0051 a0001c0001t0001g0071 others(13): Show a0001c0001t0001g0013 a0001c0001t0001g0051 a0001c0001t0001g0071 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0222 a0001c0010t0001g0050 a0004c0004t0001g0252	21	400	0.0525	20	c.71+ others(33): Show c.71+864_71+883dupTTTCTTTCTTTCTTTCTTTC	CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA4_chr7_130288161_130329180	130308850	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02055.hp1 HG02109.hp1 others(1): Show HG01978.hp1 HG02055.hp1 HG02109.hp1 HG03453.hp1	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0003 a0006c0010 a0007c0013 a0003c0003 a0006c0010 a0007c0013	a0003c0003t0020 a0006c0010t0005 a0007c0013t0003 a0003c0003t0020 a0006c0010t0005 a0007c0013t0003	a0003c0003t0020g0155 a0006c0010t0005g0023 a0007c0013t0003g0119 a0003c0003t0020g0155 a0006c0010t0005g0023 a0007c0013t0003g0119	4	402	0.0100	20	c.793 others(35): Show c.793+468_793+469insTTTTTTTTTTTTTTTTTTTT	CPA4	ENSG00000128510.12	transcript	ENST00000222482.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA6_chr8_67417038_67751360	67472375	T T	TTTTTATT others(13): Show TTTTTATTTTATTTTATTCTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02280.hp1 others(11): Show HG01891.hp1 HG02109.hp1 HG02280.hp1 HG02622.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG06807.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 others(11): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0115 a0002c0002t0001g0010 a0002c0002t0001g0021 a0002c0002t0001g0029	14	144	0.0972	20	c.838 others(39): Show c.838+11392_838+11393insTAGAATAAAATAAAATAAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67472378	T T	TTATTTTA others(13): Show TTATTTTATTTTATTCTATTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03540.hp2 HG03688.hp1 others(5): Show HG00423.hp2 HG03540.hp2 HG03688.hp1 NA18946.hp1 NA18952.hp2 NA18998.hp2 NA19085.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0070 others(5): Show a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0070 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0118 a0001c0001t0001g0119 a0002c0002t0001g0038	8	144	0.0556	20	c.838 others(39): Show c.838+11389_838+11390insGAATAGAATAAAATAAAATA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67560160	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02818.hp1 HG02257.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0127 a0001c0001t0001g0133	2	144	0.0139	20	c.193 others(39): Show c.193-42114_193-42113insATATATATATATATATATAT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67681200	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18962.hp1 NA18964.hp2 HG02970.hp1 NA18962.hp1 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0001 a0001c0001t0003g0002 a0002c0002t0001g0102 a0001c0001t0003g0001 a0001c0001t0003g0002 a0002c0002t0001g0102	3	144	0.0208	20	c.117 others(39): Show c.117-56969_117-56950dupAAAAAAAAAAAAAAAAAAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16906407	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0102 a0102	a0102c0130 a0102c0130	a0102c0130t0002 a0102c0130t0002	a0102c0130t0002g0030 a0102c0130t0002g0030	1	278	0.0036	20	c.402 others(37): Show c.4027+544_4027+545insGGAAAGAAAGAAAGAAAGAA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	30/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16926304	C C	CTTTATTT others(13): Show CTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02886.hp2 HG03098.hp1 others(7): Show HG02257.hp1 HG02886.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp1 NA19240.hp1 NA19240.hp2	a0007 a0010 a0028 others(6): Show a0007 a0010 a0028 a0042 a0056 a0072 a0092 a0101 a0122	a0007c0119 a0010c0004 a0028c0114 others(7): Show a0007c0119 a0010c0004 a0028c0114 a0028c0181 a0042c0175 a0056c0072 a0072c0081 a0092c0173 a0101c0126 a0122c0162	a0007c0119t0001 a0010c0004t0001 a0028c0114t0001 others(7): Show a0007c0119t0001 a0010c0004t0001 a0028c0114t0001 a0028c0181t0002 a0042c0175t0001 a0056c0072t0001 a0072c0081t0001 a0092c0173t0001 a0101c0126t0001 a0122c0162t0001	a0007c0119t0001g0122 a0010c0004t0001g0068 a0028c0114t0001g0100 others(7): Show a0007c0119t0001g0122 a0010c0004t0001g0068 a0028c0114t0001g0100 a0028c0181t0002g0060 a0042c0175t0001g0075 a0056c0072t0001g0094 a0072c0081t0001g0067 a0092c0173t0001g0164 a0101c0126t0001g0061 a0122c0162t0001g0019	10	278	0.0360	20	c.337 others(37): Show c.3371-952_3371-933dupATAAAATAAAATAAAATAAA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	25/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16937063	G G	GCCTTCCT others(13): Show GCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0088 a0088	a0088c0047 a0088c0047	a0088c0047t0001 a0088c0047t0001	a0088c0047t0001g0161 a0088c0047t0001g0161	1	278	0.0036	20	c.284 others(39): Show c.2845+1312_2845+1331dupAAGGAAGGAAGGAAGGAAGG	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	23/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16948840	A A	AGGGAACA others(13): Show AGGGAACAGAAGGGAAGGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0110 a0110	a0110c0115 a0110c0115	a0110c0115t0001 a0110c0115t0001	a0110c0115t0001g0098 a0110c0115t0001g0098	1	278	0.0036	20	c.250 others(39): Show c.2509-1614_2509-1613insCTCCCTTCCCTTCTGTTCCC	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	20/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16948840	A A	AGGGAAGA others(13): Show AGGGAAGAGAAGGGAAGGGAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01169.hp2 HG02809.hp2 HG01070.hp2 HG01169.hp2 HG02809.hp2	a0007 a0016 a0023 a0007 a0016 a0023	a0007c0016 a0016c0117 a0023c0031 a0007c0016 a0016c0117 a0023c0031	a0007c0016t0001 a0016c0117t0001 a0023c0031t0001 a0007c0016t0001 a0016c0117t0001 a0023c0031t0001	a0007c0016t0001g0124 a0016c0117t0001g0114 a0023c0031t0001g0025 a0007c0016t0001g0124 a0016c0117t0001g0114 a0023c0031t0001g0025	3	278	0.0108	20	c.250 others(39): Show c.2509-1633_2509-1614dupCTCCCTTCCCTTCTCTTCCC	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	20/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16948868	A A	AAAGGGAA others(13): Show AAAGGGAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03490.hp2 HG00099.hp1 HG03490.hp2	a0001 a0113 a0001 a0113	a0001c0001 a0113c0136 a0001c0001 a0113c0136	a0001c0001t0002 a0113c0136t0002 a0001c0001t0002 a0113c0136t0002	a0001c0001t0002g0248 a0113c0136t0002g0169 a0001c0001t0002g0248 a0113c0136t0002g0169	2	278	0.0072	20	c.250 others(39): Show c.2509-1661_2509-1642dupCCCTTCCCTTCCCTTCCCTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	20/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16985342	C C	CGGATGGA others(13): Show CGGATGGATGGATGGATGGAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01361.hp1 HG02055.hp1 others(13): Show HG01109.hp1 HG01361.hp1 HG02055.hp1 HG02129.hp1 HG02145.hp1 HG02486.hp1 HG02615.hp2 HG02717.hp1 HG02886.hp1 HG02965.hp1 HG03130.hp2 HG03688.hp2 HG04184.hp2 NA18522.hp2 NA18944.hp1 NA19070.hp1	a0002 a0004 a0011 others(10): Show a0002 a0004 a0011 a0020 a0034 a0039 a0055 a0057 a0067 a0069 a0094 a0107 a0109	a0002c0176 a0004c0014 a0011c0012 others(11): Show a0002c0176 a0004c0014 a0011c0012 a0020c0011 a0034c0070 a0034c0071 a0039c0107 a0055c0145 a0057c0073 a0067c0094 a0069c0098 a0094c0060 a0107c0122 a0109c0184	a0002c0176t0001 a0004c0014t0002 a0011c0012t0002 others(11): Show a0002c0176t0001 a0004c0014t0002 a0011c0012t0002 a0020c0011t0001 a0034c0070t0002 a0034c0071t0001 a0039c0107t0001 a0055c0145t0001 a0057c0073t0001 a0067c0094t0002 a0069c0098t0001 a0094c0060t0001 a0107c0122t0001 a0109c0184t0001	a0002c0176t0001g0014 a0004c0014t0002g0038 a0011c0012t0002g0210 others(13): Show a0002c0176t0001g0014 a0004c0014t0002g0038 a0011c0012t0002g0210 a0020c0011t0001g0017 a0020c0011t0001g0020 a0020c0011t0001g0021 a0034c0070t0002g0091 a0034c0071t0001g0070 a0039c0107t0001g0184 a0055c0145t0001g0093 a0057c0073t0001g0066 a0067c0094t0002g0145 a0069c0098t0001g0065 a0094c0060t0001g0262 a0107c0122t0001g0023 a0109c0184t0001g0057	16	278	0.0576	20	c.139 others(39): Show c.1395+4281_1395+4300dupATCCATCCATCCATCCATCC	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	17013512	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02818.hp2 HG02895.hp2 others(4): Show HG01515.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 NA19240.hp2 NA21309.hp2	a0015 a0028 a0045 others(3): Show a0015 a0028 a0045 a0047 a0091 a0114	a0015c0008 a0028c0114 a0045c0118 others(3): Show a0015c0008 a0028c0114 a0045c0118 a0047c0046 a0091c0055 a0114c0113	a0015c0008t0001 a0028c0114t0001 a0045c0118t0001 others(3): Show a0015c0008t0001 a0028c0114t0001 a0045c0118t0001 a0047c0046t0002 a0091c0055t0001 a0114c0113t0001	a0015c0008t0001g0005 a0028c0114t0001g0100 a0045c0118t0001g0024 others(4): Show a0015c0008t0001g0005 a0028c0114t0001g0100 a0045c0118t0001g0024 a0047c0046t0002g0135 a0047c0046t0002g0136 a0091c0055t0001g0121 a0114c0113t0001g0101	7	278	0.0252	20	c.268 others(37): Show c.268-1775_268-1756dupATTTTATTTTATTTTATTTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	3/41			chr19	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	456	0.0022	20	c.981 others(37): Show c.981+1172_981+1173insGTATATATATATATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB2_chr13_46048186_46110033	46108157	T T	TTATATAT others(13): Show TTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0143 a0002c0002t0002g0143	1	330	0.0030	20	c.-31 others(31): Show c.-3149_-3148insTATATATATATATATATATA	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3125		chr13	TogoVar
CPEB1_chr15_82538201_82652363	82542204	C C	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02647.hp2 NA20300.hp1 HG01891.hp1 HG02647.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0015 a0001c0001t0033 a0002c0003t0049 a0001c0001t0015 a0001c0001t0033 a0002c0003t0049	a0001c0001t0015g0102 a0001c0001t0033g0104 a0002c0003t0049g0231 a0001c0001t0015g0102 a0001c0001t0033g0104 a0002c0003t0049g0231	3	354	0.0085	20	c.23 others(31): Show c.2387_*2388insTAAATAAATAAATAAATAAA	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding		996		chr15	TogoVar
CPEB1_chr15_82538201_82652363	82606817	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19240.hp1 HG01496.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0188 a0001c0001t0009g0238 a0001c0001t0009g0188 a0001c0001t0009g0238	2	354	0.0057	20	c.271 others(39): Show c.271+20375_271+20376insTTTTTTTTTTTTTTTTTTTT	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB1_chr15_82538201_82652363	82652115	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02809.hp1 HG03195.hp1 others(2): Show HG00642.hp1 HG02809.hp1 HG03195.hp1 HG06807.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0022 a0001c0001t0004 a0002c0002t0022	a0001c0001t0004g0101 a0002c0002t0022g0181 a0002c0002t0022g0182 others(2): Show a0001c0001t0004g0101 a0002c0002t0022g0181 a0002c0002t0022g0182 a0002c0002t0022g0183 a0002c0002t0022g0184	5	354	0.0141	20	c.-50 others(31): Show c.-5077_-5076insTAAATAAATAAATAAATAAA	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding		4753		chr15	TogoVar
CPEB3_chr10_92041692_92296078	92177605	T T	TGGTAACT others(13): Show TGGTAACTCTTATTTGTCTTG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0127 a0001c0001t0026g0127	1	278	0.0036	20	c.122 others(39): Show c.1222+3357_1222+3358insCAAGACAAATAAGAGTTACC	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	4/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289718	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0229 a0001c0001t0006g0229	1	278	0.0036	20	c.-12 others(37): Show c.-12+1207_-12+1208insTTTTTTTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPED1_chr7_120983711_121302442	121088763	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02486.hp1 HG01081.hp1 HG02486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0018 a0002c0002t0001g0075 a0001c0001t0005g0018 a0002c0002t0001g0075	2	140	0.0143	20	c.617 others(37): Show c.617-8926_617-8907dupAAAAAAAAAAAAAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar

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