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
CORO2A_chr9_98115975_98197637	98119798	G G	GTTTTTGT others(6): Show GTTTTTGTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG02040.hp1 NA18943.hp2 others(1): Show HG01071.hp2 HG02040.hp1 NA18943.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0220 a0001c0001t0002g0221 others(1): Show a0001c0001t0002g0101 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0267	4	342	0.0117	13	c.49 others(24): Show c.4975_*4976insAAAAAAACAAAAA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		1176		chr9	TogoVar
CORO2A_chr9_98115975_98197637	98119798	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01192.hp2 HG01258.hp1 others(6): Show HG01106.hp2 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01975.hp2 HG02647.hp1 HG02970.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0036 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0161 a0001c0001t0001g0178 a0001c0001t0002g0009 a0001c0001t0003g0139 a0001c0001t0003g0283	9	342	0.0263	13	c.49 others(24): Show c.4975_*4976insAAAAAAAAAAAAA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		1176		chr9	TogoVar
CORO2B_chr15_68573993_68732806	68672159	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0106 a0001c0001t0004g0106	1	256	0.0039	13	c.217 others(32): Show c.217-22981_217-22980insTGTGTGTGTGTGT	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11			chr15	TogoVar
CORO2B_chr15_68573993_68732806	68705436	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0165 a0001c0001t0005g0165	1	256	0.0039	13	c.334 others(30): Show c.334-5290_334-5278dupAAAAAAAAAAAAA	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
CORO7_chr16_4349542_4421596	4371602	C C	CTGTAAAA others(6): Show CTGTAAAAAAATAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	297	0.0034	13	c.786 others(30): Show c.786-6058_786-6057insCTATTTTTTTACA	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	9/27			chr16	TogoVar
CORO7_chr16_4349542_4421596	4395996	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(144): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18969.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19088.hp1 NA19089.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0010 a0011 a0012 a0013	a0001c0002 a0002c0001 a0002c0006 others(9): Show a0001c0002 a0002c0001 a0002c0006 a0002c0013 a0003c0003 a0003c0018 a0003c0019 a0005c0007 a0010c0012 a0011c0011 a0012c0010 a0013c0009	a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 others(12): Show a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0006t0001 a0002c0013t0001 a0003c0003t0001 a0003c0018t0001 a0003c0019t0001 a0005c0007t0001 a0010c0012t0001 a0011c0011t0001 a0012c0010t0001 a0013c0009t0001	a0001c0002t0001g0019 a0001c0002t0001g0034 a0001c0002t0001g0038 others(136): Show a0001c0002t0001g0019 a0001c0002t0001g0034 a0001c0002t0001g0038 a0001c0002t0001g0086 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0201 a0001c0002t0002g0267 a0002c0001t0001g0004 a0002c0001t0001g0009 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0012 a0002c0001t0001g0015 a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0033 a0002c0001t0001g0036 a0002c0001t0001g0045 a0002c0001t0001g0061 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0071 a0002c0001t0001g0087 a0002c0001t0001g0095 a0002c0001t0001g0110 a0002c0001t0001g0128 a0002c0001t0001g0132 a0002c0001t0001g0140 a0002c0001t0001g0141 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0149 a0002c0001t0001g0154 a0002c0001t0001g0155 a0002c0001t0001g0156 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0164 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0170 a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0180 a0002c0001t0001g0182 a0002c0001t0001g0186 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0190 a0002c0001t0001g0191 a0002c0001t0001g0193 a0002c0001t0001g0194 a0002c0001t0001g0195 a0002c0001t0001g0196 a0002c0001t0001g0198 a0002c0001t0001g0199 a0002c0001t0001g0200 a0002c0001t0001g0202 a0002c0001t0001g0205 a0002c0001t0001g0206 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0211 a0002c0001t0001g0212 a0002c0001t0001g0213 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0217 a0002c0001t0001g0219 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0226 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0249 a0002c0001t0001g0252 a0002c0001t0001g0253 a0002c0001t0001g0254 a0002c0001t0001g0255 a0002c0001t0002g0278 a0002c0001t0004g0192 a0002c0006t0001g0013 a0002c0006t0001g0248 a0002c0013t0001g0207 a0003c0003t0001g0014 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0266 a0003c0003t0001g0268 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0276 a0003c0018t0001g0277 a0003c0019t0001g0272 a0005c0007t0001g0042 a0005c0007t0001g0043 a0010c0012t0001g0197 a0011c0011t0001g0225 a0012c0010t0001g0181 a0013c0009t0001g0247	147	297	0.4950	13	c.565 others(28): Show c.565-658_565-657insCACACACACACAC	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	6/27			chr16	TogoVar
COTL1_chr16_84560596_84623078	84598783	G G	GGGAGAAC others(6): Show GGGAGAACCAAGCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01175.hp1 HG01167.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0173 a0001c0001t0004g0174	2	440	0.0046	13	c.161 others(30): Show c.161-8522_161-8521insTGCTTGGTTCTCC	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	2/3			chr16	TogoVar
COX14_chr12_50107236_50125453	50112908	G G	GTTATGTT others(6): Show GTTATGTTATGTTA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	418	0.0024	13	c.-9+ others(26): Show c.-9+609_-9+621dupTATGTTATGTTAT	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(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01192.hp2 HG01243.hp1 others(17): Show HG01074.hp2 HG01192.hp2 HG01243.hp1 HG01346.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02897.hp1 HG02922.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 NA18948.hp2 NA18953.hp1 NA18956.hp1 NA19000.hp2 NA19030.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0080 others(12): Show a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0124 a0001c0001t0001g0234 a0001c0001t0001g0284 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0166 a0001c0001t0002g0188 a0001c0001t0003g0147 a0001c0001t0007g0158	20	376	0.0532	13	c.204 others(30): Show c.204+1089_204+1101dupAAAAAAAAAAAAA	COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	3/3			chr14	TogoVar
COX16_chr14_70320081_70364683	70328848	G G	GTATGTAT others(6): Show GTATGTATGAACCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	376	0.0027	13	c.204 others(28): Show c.204+325_204+326insGGGTTCATACATA	COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	3/3			chr14	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAA others(6): Show AAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA18953.hp1 NA18956.hp1 others(1): Show HG01168.hp1 NA18953.hp1 NA18956.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0017 a0001c0001t0001 a0001c0002t0002 a0001c0002t0017	a0001c0001t0001g0083 a0001c0001t0001g0134 a0001c0002t0002g0178 others(1): Show a0001c0001t0001g0083 a0001c0001t0001g0134 a0001c0002t0002g0178 a0001c0002t0017g0222	4	384	0.0104	13	c.434 others(28): Show c.434+164_434+165insATATATTTTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG02818.hp2 others(7): Show HG01884.hp1 HG02647.hp2 HG02818.hp2 HG02970.hp2 HG03471.hp2 HG03486.hp1 NA18522.hp1 NA18747.hp1 NA19083.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0001t0001 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0231 a0001c0002t0002g0009 a0001c0002t0002g0154 others(2): Show a0001c0001t0001g0231 a0001c0002t0002g0009 a0001c0002t0002g0154 a0001c0002t0002g0229 a0001c0003t0002g0234	10	384	0.0260	13	c.434 others(28): Show c.434+164_434+165insATATATATTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02559.hp2 others(4): Show HG01167.hp2 HG01169.hp1 HG02559.hp2 HG03017.hp2 NA18946.hp1 NA18965.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0001t0001 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0041 a0001c0002t0002g0175 a0001c0002t0002g0203 others(3): Show a0001c0001t0001g0041 a0001c0002t0002g0175 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0003t0002g0232	7	384	0.0182	13	c.434 others(28): Show c.434+164_434+165insATATATATATTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0195 a0001c0002t0002g0195	1	384	0.0026	13	c.434 others(28): Show c.434+164_434+165insATATATATATATT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX4I1_chr16_85794695_85812068	85795200	A A	ATTCCAAA others(6): Show ATTCCAAATGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02647.hp1 HG01884.hp2 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	2	432	0.0046	13	c.-45 others(24): Show c.-4554_-4553insTTCCAAATGAGGT	COX4I1	ENSG00000131143.10	transcript	ENST00000253452.8	protein_coding		4494		chr16	TogoVar
COX4I2_chr20_31632912_31650006	31633906	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01168.hp1 HG02738.hp2 others(2): Show HG00733.hp2 HG01168.hp1 HG02738.hp2 HG03710.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0080 a0002c0002t0001g0090 others(1): Show a0002c0002t0001g0035 a0002c0002t0001g0080 a0002c0002t0001g0090 a0002c0002t0001g0091	5	300	0.0167	13	c.-40 others(24): Show c.-4057_-4056insAAAAAAAAAAAAA	COX4I2	ENSG00000131055.5	transcript	ENST00000376075.4	protein_coding		4005		chr20	TogoVar
COX4I2_chr20_31632912_31650006	31648468	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG02145.hp1 NA20300.hp1 HG01261.hp1 HG02145.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0008 a0001c0001t0001g0113 a0001c0001t0001g0115	3	300	0.0100	13	c.35 others(24): Show c.3564_*3565insTTTTTTTTTTTTT	COX4I2	ENSG00000131055.5	transcript	ENST00000376075.4	protein_coding		3463		chr20	TogoVar
COX5A_chr15_74914791_74943073	74939066	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	428	0.0023	13	c.-10 others(24): Show c.-1053_-1052insTTTTTTTTTTTTT	COX5A	ENSG00000178741.12	transcript	ENST00000322347.11	protein_coding		994		chr15	TogoVar
COX6A1_chr12_120433113_120445730	120437394	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	426	0.0024	13	c.-73 others(22): Show c.-733_-732insAAAAAAAAAAAAA	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		718		chr12	TogoVar
COX6B1_chr19_35643323_35663782	35655788	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	440	0.0023	13	c.207 others(30): Show c.207+1117_207+1118insCTCTCTCTCTCTC	COX6B1	ENSG00000126267.11	transcript	ENST00000649813.2	protein_coding	3/3			chr19	TogoVar
COX7B2_chr4_46729827_46914245	46880993	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG02071.hp1 others(9): Show HG00423.hp1 HG00438.hp1 HG02071.hp1 HG02165.hp1 HG06807.hp2 NA18982.hp2 NA18994.hp1 NA19064.hp2 NA19083.hp1 NA19091.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0237 a0001c0001t0003g0227 a0001c0001t0003g0229 others(9): Show a0001c0001t0001g0237 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0234 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0281	12	300	0.0400	13	c.-10 others(34): Show c.-105+28154_-105+28166dupTTTTTTTTTTTTT	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	1/2			chr4	TogoVar
COX8A_chr11_63969620_63981543	63979706	G G	GGAGGAAA others(6): Show GGAGGAAAAAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	336	0.0030	13	c.33 others(24): Show c.3386_*3387insGAGGAAAAAGAGA	COX8A	ENSG00000176340.4	transcript	ENST00000314133.4	protein_coding		3164		chr11	TogoVar
CPA1_chr7_130375494_130393108	130392392	A A	ACACACAC others(6): Show ACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	434	0.0023	13	c.43 others(24): Show c.4381_*4382insCACACACACACAC	CPA1	ENSG00000091704.10	transcript	ENST00000011292.8	protein_coding		4285		chr7	TogoVar
CPA2_chr7_130261863_130294798	130267773	C C	CTTCTTTC others(6): Show CTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0241 a0001c0002t0001g0241	1	400	0.0025	13	c.71+ others(26): Show c.71+822_71+823insTCTTTCTTTCTTT	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(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 NA18981.hp1 NA19068.hp2 others(1): Show HG02809.hp1 NA18981.hp1 NA19068.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0170 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0170 a0001c0001t0001g0182	4	400	0.0100	13	c.28 others(24): Show c.2840_*2841insAAAAAAAAAAAAA	CPA3	ENSG00000163751.4	transcript	ENST00000296046.4	protein_coding		2345		chr3	TogoVar
CPA6_chr8_67417038_67751360	67653274	T T	TTTTGTAA others(6): Show TTTTGTAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	144	0.0069	13	c.117 others(32): Show c.117-29024_117-29023insCTTTTCTTACAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67681200	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02135.hp2 HG03471.hp2 others(2): Show HG01069.hp2 HG02135.hp2 HG03471.hp2 NA19043.hp2 NA19077.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0007 a0001c0001 a0002c0002 a0009c0007	a0001c0001t0001 a0002c0002t0001 a0009c0007t0001 a0001c0001t0001 a0002c0002t0001 a0009c0007t0001	a0001c0001t0001g0018 a0001c0001t0001g0110 a0001c0001t0001g0120 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0110 a0001c0001t0001g0120 a0002c0002t0001g0020 a0009c0007t0001g0132	5	144	0.0347	13	c.117 others(32): Show c.117-56962_117-56950dupAAAAAAAAAAAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67733196	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20300.hp2 HG02922.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0005 a0001c0001t0001g0022	2	144	0.0139	13	c.116 others(32): Show c.116+12805_116+12817dupTTTTTTTTTTTTT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67749708	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG03471.hp2 HG02818.hp1 HG03471.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0007 a0001c0001 a0009c0007	a0001c0001t0001 a0009c0007t0001 a0001c0001t0001 a0009c0007t0001	a0001c0001t0001g0133 a0009c0007t0001g0132 a0001c0001t0001g0133 a0009c0007t0001g0132	2	144	0.0139	13	c.-35 others(24): Show c.-3580_-3579insAAAAAAAAAAAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding		3349		chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16987179	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0040 a0040	a0040c0141 a0040c0141	a0040c0141t0002 a0040c0141t0002	a0040c0141t0002g0245 a0040c0141t0002g0245	1	278	0.0036	13	c.139 others(32): Show c.1395+2463_1395+2464insATATATATATTTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16987179	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0081 a0081	a0081c0079 a0081c0079	a0081c0079t0001 a0081c0079t0001	a0081c0079t0001g0080 a0081c0079t0001g0080	1	278	0.0036	13	c.139 others(32): Show c.1395+2463_1395+2464insATATATATATATT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16987179	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0047 a0047	a0047c0046 a0047c0046	a0047c0046t0002 a0047c0046t0002	a0047c0046t0002g0135 a0047c0046t0002g0135	1	278	0.0036	13	c.139 others(32): Show c.1395+2463_1395+2464insATATATATATATA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16990863	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18992.hp1 NA19000.hp1 NA18959.hp2 NA18992.hp1 NA19000.hp1	a0029 a0102 a0106 a0029 a0102 a0106	a0029c0125 a0102c0130 a0106c0134 a0029c0125 a0102c0130 a0106c0134	a0029c0125t0002 a0102c0130t0002 a0106c0134t0001 a0029c0125t0002 a0102c0130t0002 a0106c0134t0001	a0029c0125t0002g0034 a0102c0130t0002g0030 a0106c0134t0001g0109 a0029c0125t0002g0034 a0102c0130t0002g0030 a0106c0134t0001g0109	3	278	0.0108	13	c.126 others(32): Show c.1267-1105_1267-1093dupTTTTTTTTTTTTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	12/41			chr19	TogoVar
CPB2_chr13_46048186_46110033	46108157	T T	TATATATA others(6): Show TATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0118 a0002c0002t0002g0118	1	330	0.0030	13	c.-31 others(24): Show c.-3149_-3148insTATATATATATAT	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3125		chr13	TogoVar
CPD_chr17_30373927_30474989	30472981	C C	CATGCCAA others(6): Show CATGCCAACAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0017 a0001c0001t0014g0017	1	296	0.0034	13	c.81 others(24): Show c.8167_*8168insATGCCAACAAAAA	CPD	ENSG00000108582.12	transcript	ENST00000225719.9	protein_coding		2993		chr17	TogoVar
CPEB1_chr15_82538201_82652363	82584903	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03139.hp2 HG02895.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0015 a0001c0001t0009 a0001c0001t0015	a0001c0001t0009g0187 a0001c0001t0015g0191 a0001c0001t0009g0187 a0001c0001t0015g0191	2	354	0.0057	13	c.272 others(32): Show c.272-13384_272-13372dupAAAAAAAAAAAAA	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB3_chr10_92041692_92296078	92059325	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00438.hp1 others(70): Show HG00140.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp2 HG00642.hp1 HG00735.hp1 HG01169.hp2 HG01243.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG02004.hp1 HG02040.hp1 HG02071.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02280.hp1 HG02602.hp1 HG02630.hp1 HG02683.hp1 HG02735.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03490.hp2 HG03491.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18975.hp1 NA18983.hp2 NA18989.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19057.hp2 NA19058.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19089.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 others(13): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0012 a0001c0003t0016 a0001c0003t0018 a0001c0003t0021 a0001c0003t0023 a0001c0003t0024 a0001c0003t0027 a0001c0003t0031 a0001c0003t0039 a0002c0005t0013	a0001c0001t0012g0224 a0001c0001t0013g0268 a0001c0001t0013g0270 others(70): Show a0001c0001t0012g0224 a0001c0001t0013g0268 a0001c0001t0013g0270 a0001c0001t0013g0274 a0001c0001t0020g0255 a0001c0001t0020g0256 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0141 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0164 a0001c0003t0001g0166 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0196 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0001g0216 a0001c0003t0002g0207 a0001c0003t0003g0007 a0001c0003t0003g0143 a0001c0003t0003g0158 a0001c0003t0003g0159 a0001c0003t0003g0215 a0001c0003t0012g0188 a0001c0003t0012g0195 a0001c0003t0012g0213 a0001c0003t0016g0142 a0001c0003t0016g0153 a0001c0003t0016g0212 a0001c0003t0018g0160 a0001c0003t0018g0163 a0001c0003t0021g0202 a0001c0003t0023g0197 a0001c0003t0024g0209 a0001c0003t0027g0140 a0001c0003t0031g0139 a0001c0003t0039g0194 a0002c0005t0013g0266	73	278	0.2626	13	c.187 others(32): Show c.1870-6887_1870-6886insTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	9/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289718	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp1 HG01109.hp2 others(13): Show HG00140.hp2 HG01106.hp1 HG01109.hp2 HG01891.hp2 HG02257.hp2 HG02647.hp2 HG02895.hp2 HG02896.hp1 HG03130.hp2 HG03225.hp2 HG03471.hp1 HG03942.hp2 NA18939.hp1 NA18942.hp1 NA19070.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0003 a0001c0001t0008 a0001c0002t0002 others(4): Show a0001c0001t0003 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0043 a0001c0007t0009	a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0008g0225 others(13): Show a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0008g0225 a0001c0001t0008g0234 a0001c0002t0002g0018 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0017 a0001c0002t0004g0051 a0001c0002t0007g0099 a0001c0002t0043g0074 a0001c0007t0009g0040	16	278	0.0576	13	c.-12 others(30): Show c.-12+1195_-12+1207dupTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289732	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0275 a0001c0001t0036g0275	1	278	0.0036	13	c.-12 others(30): Show c.-12+1193_-12+1194insATATTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289732	A A	AAAAAAAA others(6): Show AAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0118 a0001c0001t0010g0118	1	278	0.0036	13	c.-12 others(30): Show c.-12+1193_-12+1194insATATATTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPED1_chr7_120983711_121302442	121043077	C C	CTTAGAAA others(6): Show CTTAGAAAGCATTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01074.hp1 HG01433.hp1 others(5): Show HG01071.hp1 HG01074.hp1 HG01433.hp1 HG01496.hp1 HG02572.hp2 HG02809.hp1 HG03209.hp2 HG03540.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0004c0013	a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0008t0001 a0004c0013t0006	a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0003t0001g0126 others(5): Show a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0003t0001g0126 a0001c0003t0002g0125 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0008t0001g0054 a0004c0013t0006g0035	8	140	0.0571	13	c.434 others(30): Show c.434-3810_434-3809insTTAGAAAGCATTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	3/22			chr7	TogoVar
CPED1_chr7_120983711_121302442	121199693	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01433.hp2 HG02523.hp2 others(7): Show HG01257.hp2 HG01433.hp2 HG02523.hp2 HG02622.hp2 HG02818.hp2 HG02886.hp1 HG02970.hp1 NA18998.hp2 NA19030.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0004t0001 a0002c0004t0002	a0002c0002t0001g0055 a0002c0002t0001g0087 a0002c0002t0001g0129 others(7): Show a0002c0002t0001g0055 a0002c0002t0001g0087 a0002c0002t0001g0129 a0002c0002t0002g0063 a0002c0002t0004g0116 a0002c0002t0005g0007 a0002c0004t0001g0114 a0002c0004t0002g0044 a0002c0004t0002g0110 a0002c0004t0002g0112	10	140	0.0714	13	c.205 others(34): Show c.2056-37021_2056-37020insGAAAGAAAGAAAG	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22			chr7	TogoVar
CPHXL_chr16_75709131_75731490	75725753	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02132.hp2 NA18747.hp2 others(10): Show HG00733.hp2 HG02132.hp2 NA18747.hp2 NA18942.hp1 NA18959.hp2 NA18966.hp2 NA18974.hp2 NA18977.hp2 NA18998.hp2 NA19064.hp1 NA19065.hp2 NA19082.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0155 a0001c0001t0001g0156 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158	13	388	0.0335	13	c.25+ others(26): Show c.25+652_25+664dupAAAAAAAAAAAAA	CPHXL	ENSG00000283755.2	transcript	ENST00000640559.2	protein_coding	1/2			chr16	TogoVar
CPLANE1_chr5_37101235_37254376	37154459	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03831.hp2 HG02300.hp1 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0027 a0002c0002t0001g0020 a0002c0002t0001g0027	2	268	0.0075	13	c.812 others(30): Show c.8120-479_8120-467dupAAAAAAAAAAAAA	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	41/52			chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37187060	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0003 a0008c0007t0003	a0008c0007t0003g0042 a0008c0007t0003g0042	1	268	0.0037	13	c.408 others(30): Show c.4080+341_4080+353dupTTTTTTTTTTTTT	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	23/52			chr5	TogoVar
CPLX1_chr4_779957_831129	783059	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG03209.hp1 HG01433.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0023 a0001c0001t0011 a0001c0001t0023	a0001c0001t0011g0153 a0001c0001t0023g0348 a0001c0001t0011g0153 a0001c0001t0023g0348	2	416	0.0048	13	c.34 others(24): Show c.3441_*3442insTTTTTTTTTTTTT	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		1897		chr4	TogoVar
CPLX1_chr4_779957_831129	826348	G G	GGCGGGGG others(6): Show GGCGGGGGGTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01070.hp2 HG01071.hp2 others(9): Show HG00323.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01169.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01978.hp1 HG02148.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0020 a0001c0001t0010 a0001c0001t0020	a0001c0001t0010g0001 a0001c0001t0010g0004 a0001c0001t0010g0029 others(5): Show a0001c0001t0010g0001 a0001c0001t0010g0004 a0001c0001t0010g0029 a0001c0001t0010g0030 a0001c0001t0010g0031 a0001c0001t0010g0032 a0001c0001t0010g0033 a0001c0001t0020g0027	12	416	0.0289	13	c.-38 others(22): Show c.-383_-382insGTCCACCCCCCGC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		220		chr4	TogoVar
CPLX1_chr4_779957_831129	826466	C C	CGGGGCGG others(6): Show CGGGGCGGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0379 a0001c0001t0011g0379	1	416	0.0024	13	c.-50 others(22): Show c.-501_-500insCCGCCCCCGCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		338		chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871446	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0031 a0001c0001t0029g0031	1	378	0.0027	13	c.-34 others(22): Show c.-348_-347insGAGAGAGAGAGGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		131		chr5	TogoVar
CPM_chr12_68846175_68938171	68847187	G G	GTACATTA others(6): Show GTACATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	340	0.0029	13	c.92 others(24): Show c.9249_*9250insTATATATAATGTA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3987		chr12	TogoVar

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