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
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18947.hp1 NA18954.hp2 others(1): Show NA18943.hp1 NA18947.hp1 NA18954.hp2 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0052 a0002c0002t0001g0002 a0002c0002t0001g0052	4	438	0.0091	13	c.-11 others(24): Show c.-1118_-1117insATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(6): Show ATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	438	0.0023	13	c.-11 others(24): Show c.-1118_-1117insAAATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321122	A A	AAAATTTT others(6): Show AAAATTTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	438	0.0023	13	c.-39 others(24): Show c.-3926_-3925insATATATAAAATTT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3837		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321122	A A	AATTATAT others(6): Show AATTATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02109.hp1 HG02145.hp2 others(8): Show HG00544.hp1 HG02109.hp1 HG02145.hp2 HG02615.hp1 HG02895.hp2 HG03041.hp2 HG03540.hp2 HG04204.hp1 HG06807.hp1 NA19058.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0057 a0001c0001t0001g0171 a0001c0001t0001g0191	11	438	0.0251	13	c.-39 others(24): Show c.-3926_-3925insATATATATATAAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3837		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321123	T T	TATATATA others(6): Show TATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	438	0.0023	13	c.-39 others(24): Show c.-3927_-3926insTATATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3838		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321158	T T	TATATATA others(6): Show TATATATATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	438	0.0023	13	c.-39 others(24): Show c.-3962_-3961insTTTATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3873		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321158	T T	TATATATA others(6): Show TATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	438	0.0023	13	c.-39 others(24): Show c.-3962_-3961insTATATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3873		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321167	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	438	0.0023	13	c.-39 others(24): Show c.-3971_-3970insATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3882		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	388	0.0026	13	c.148 others(30): Show c.148+2201_148+2202insAAAAATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091573	A A	AAGAAGAG others(6): Show AAGAAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	388	0.0026	13	c.292 others(28): Show c.292+356_292+357insAGAGAGAGAGAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC11_chr2_3590112_3649644	3600010	T T	TGGATCAT others(6): Show TGGATCATGAGGTC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	378	0.0027	13	c.-26 others(30): Show c.-26-4304_-26-4292dupGGATCATGAGGTC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC12_chr18_311737_505701	406515	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp2 HG02622.hp2 HG02897.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0002 a0001c0005 a0003c0002	a0001c0005t0255 a0003c0002t0031 a0001c0005t0255 a0003c0002t0031	a0001c0005t0255g0358 a0003c0002t0031g0023 a0001c0005t0255g0358 a0003c0002t0031g0023	2	366	0.0055	13	c.59- others(30): Show c.59-49006_59-48994dupTTTTTTTTTTTTT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	473351	A A	ACAGCTCA others(6): Show ACAGCTCAAATCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(163): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18939.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19082.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0013	a0001c0003 a0001c0004 a0001c0005 others(17): Show a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0018 a0002c0001 a0002c0007 a0002c0012 a0002c0021 a0003c0002 a0003c0010 a0003c0027 a0004c0006 a0005c0014 a0006c0009 a0007c0011 a0008c0015 a0009c0016 a0012c0024 a0013c0026	a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 others(140): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0009 a0001c0003t0013 a0001c0003t0016 a0001c0003t0018 a0001c0003t0019 a0001c0003t0025 a0001c0003t0027 a0001c0003t0050 a0001c0003t0057 a0001c0003t0060 a0001c0003t0065 a0001c0003t0067 a0001c0003t0076 a0001c0003t0092 a0001c0003t0153 a0001c0003t0154 a0001c0003t0166 a0001c0004t0005 a0001c0004t0036 a0001c0004t0038 a0001c0004t0039 a0001c0004t0043 a0001c0004t0052 a0001c0004t0082 a0001c0004t0155 a0001c0004t0168 a0001c0004t0174 a0001c0004t0191 a0001c0004t0192 a0001c0004t0227 a0001c0004t0245 a0001c0005t0016 a0001c0005t0062 a0001c0005t0078 a0001c0005t0086 a0001c0005t0089 a0001c0005t0165 a0001c0005t0221 a0001c0005t0248 a0001c0008t0017 a0001c0008t0146 a0001c0018t0167 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0008 a0002c0001t0010 a0002c0001t0020 a0002c0001t0021 a0002c0001t0023 a0002c0001t0035 a0002c0001t0045 a0002c0001t0046 a0002c0001t0049 a0002c0001t0071 a0002c0001t0073 a0002c0001t0095 a0002c0001t0104 a0002c0001t0113 a0002c0001t0141 a0002c0001t0150 a0002c0001t0161 a0002c0001t0171 a0002c0001t0173 a0002c0001t0181 a0002c0001t0182 a0002c0001t0196 a0002c0001t0198 a0002c0001t0201 a0002c0001t0203 a0002c0001t0214 a0002c0001t0219 a0002c0001t0231 a0002c0001t0235 a0002c0001t0237 a0002c0007t0026 a0002c0007t0132 a0002c0007t0223 a0002c0007t0230 a0002c0012t0169 a0002c0012t0179 a0002c0021t0233 a0003c0002t0001 a0003c0002t0004 a0003c0002t0007 a0003c0002t0008 a0003c0002t0011 a0003c0002t0012 a0003c0002t0014 a0003c0002t0022 a0003c0002t0032 a0003c0002t0033 a0003c0002t0035 a0003c0002t0053 a0003c0002t0054 a0003c0002t0075 a0003c0002t0083 a0003c0002t0084 a0003c0002t0088 a0003c0002t0096 a0003c0002t0099 a0003c0002t0102 a0003c0002t0105 a0003c0002t0106 a0003c0002t0110 a0003c0002t0112 a0003c0002t0119 a0003c0002t0121 a0003c0002t0124 a0003c0002t0127 a0003c0002t0129 a0003c0002t0131 a0003c0002t0138 a0003c0002t0140 a0003c0002t0143 a0003c0002t0147 a0003c0002t0162 a0003c0002t0187 a0003c0002t0193 a0003c0002t0199 a0003c0002t0208 a0003c0002t0212 a0003c0002t0238 a0003c0002t0246 a0003c0002t0252 a0003c0002t0253 a0003c0010t0091 a0003c0027t0156 a0004c0006t0047 a0004c0006t0120 a0004c0006t0185 a0005c0014t0115 a0006c0009t0100 a0007c0011t0040 a0008c0015t0229 a0009c0016t0064 a0012c0024t0114 a0013c0026t0006	a0001c0003t0002g0111 a0001c0003t0002g0198 a0001c0003t0002g0199 others(162): Show a0001c0003t0002g0111 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0003g0197 a0001c0003t0004g0071 a0001c0003t0004g0266 a0001c0003t0005g0044 a0001c0003t0005g0329 a0001c0003t0006g0166 a0001c0003t0006g0234 a0001c0003t0009g0344 a0001c0003t0013g0002 a0001c0003t0013g0165 a0001c0003t0016g0047 a0001c0003t0016g0328 a0001c0003t0018g0323 a0001c0003t0019g0042 a0001c0003t0025g0211 a0001c0003t0027g0265 a0001c0003t0050g0004 a0001c0003t0057g0037 a0001c0003t0060g0162 a0001c0003t0065g0109 a0001c0003t0067g0187 a0001c0003t0076g0301 a0001c0003t0092g0337 a0001c0003t0153g0091 a0001c0003t0154g0171 a0001c0003t0166g0046 a0001c0004t0005g0137 a0001c0004t0036g0271 a0001c0004t0036g0315 a0001c0004t0038g0324 a0001c0004t0039g0322 a0001c0004t0043g0116 a0001c0004t0052g0005 a0001c0004t0082g0010 a0001c0004t0155g0135 a0001c0004t0168g0257 a0001c0004t0174g0248 a0001c0004t0191g0118 a0001c0004t0192g0119 a0001c0004t0227g0288 a0001c0004t0245g0167 a0001c0005t0016g0141 a0001c0005t0062g0201 a0001c0005t0078g0206 a0001c0005t0086g0039 a0001c0005t0089g0134 a0001c0005t0165g0246 a0001c0005t0221g0028 a0001c0005t0248g0357 a0001c0008t0017g0262 a0001c0008t0146g0317 a0001c0018t0167g0072 a0002c0001t0001g0045 a0002c0001t0001g0102 a0002c0001t0001g0122 a0002c0001t0001g0156 a0002c0001t0001g0267 a0002c0001t0002g0208 a0002c0001t0002g0231 a0002c0001t0003g0253 a0002c0001t0003g0255 a0002c0001t0008g0036 a0002c0001t0008g0183 a0002c0001t0010g0063 a0002c0001t0020g0209 a0002c0001t0020g0311 a0002c0001t0021g0082 a0002c0001t0021g0168 a0002c0001t0021g0169 a0002c0001t0023g0268 a0002c0001t0035g0181 a0002c0001t0045g0038 a0002c0001t0046g0015 a0002c0001t0049g0048 a0002c0001t0049g0049 a0002c0001t0071g0085 a0002c0001t0073g0117 a0002c0001t0095g0204 a0002c0001t0104g0220 a0002c0001t0113g0149 a0002c0001t0141g0178 a0002c0001t0150g0159 a0002c0001t0161g0286 a0002c0001t0171g0064 a0002c0001t0173g0022 a0002c0001t0181g0269 a0002c0001t0182g0318 a0002c0001t0196g0132 a0002c0001t0198g0259 a0002c0001t0201g0243 a0002c0001t0203g0179 a0002c0001t0214g0213 a0002c0001t0219g0148 a0002c0001t0231g0013 a0002c0001t0235g0336 a0002c0001t0237g0073 a0002c0007t0026g0144 a0002c0007t0132g0041 a0002c0007t0223g0040 a0002c0007t0230g0270 a0002c0012t0169g0184 a0002c0012t0179g0327 a0002c0021t0233g0186 a0003c0002t0001g0062 a0003c0002t0004g0232 a0003c0002t0007g0182 a0003c0002t0007g0207 a0003c0002t0008g0123 a0003c0002t0011g0285 a0003c0002t0012g0264 a0003c0002t0014g0164 a0003c0002t0014g0205 a0003c0002t0022g0210 a0003c0002t0032g0300 a0003c0002t0033g0011 a0003c0002t0035g0192 a0003c0002t0053g0003 a0003c0002t0054g0239 a0003c0002t0075g0031 a0003c0002t0083g0202 a0003c0002t0084g0145 a0003c0002t0088g0055 a0003c0002t0096g0027 a0003c0002t0099g0233 a0003c0002t0102g0263 a0003c0002t0105g0251 a0003c0002t0106g0245 a0003c0002t0110g0084 a0003c0002t0112g0121 a0003c0002t0119g0019 a0003c0002t0121g0086 a0003c0002t0124g0114 a0003c0002t0127g0163 a0003c0002t0129g0283 a0003c0002t0131g0101 a0003c0002t0138g0068 a0003c0002t0140g0057 a0003c0002t0143g0076 a0003c0002t0147g0230 a0003c0002t0162g0349 a0003c0002t0187g0229 a0003c0002t0193g0115 a0003c0002t0199g0129 a0003c0002t0208g0196 a0003c0002t0212g0152 a0003c0002t0238g0194 a0003c0002t0246g0359 a0003c0002t0252g0360 a0003c0002t0253g0364 a0003c0010t0091g0092 a0003c0027t0156g0125 a0004c0006t0047g0088 a0004c0006t0120g0029 a0004c0006t0185g0313 a0005c0014t0115g0185 a0006c0009t0100g0133 a0007c0011t0040g0097 a0007c0011t0040g0228 a0008c0015t0229g0250 a0009c0016t0064g0075 a0012c0024t0114g0151 a0013c0026t0006g0221	166	366	0.4536	13	c.58+ others(28): Show c.58+7343_58+7355dupGAGATTTGAGCTG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	498377	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp1 HG01168.hp2 others(14): Show HG00140.hp2 HG01106.hp1 HG01168.hp2 HG02055.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG03209.hp2 HG03927.hp1 HG04115.hp2 NA18968.hp2 NA19091.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0003 a0001c0004 a0001c0005 others(4): Show a0001c0003 a0001c0004 a0001c0005 a0002c0001 a0003c0002 a0003c0013 a0011c0025	a0001c0003t0002 a0001c0003t0133 a0001c0003t0256 others(13): Show a0001c0003t0002 a0001c0003t0133 a0001c0003t0256 a0001c0004t0097 a0001c0004t0168 a0001c0005t0248 a0001c0005t0255 a0002c0001t0003 a0002c0001t0149 a0002c0001t0198 a0003c0002t0105 a0003c0002t0122 a0003c0002t0194 a0003c0002t0200 a0003c0013t0190 a0011c0025t0228	a0001c0003t0002g0254 a0001c0003t0133g0256 a0001c0003t0256g0356 others(14): Show a0001c0003t0002g0254 a0001c0003t0133g0256 a0001c0003t0256g0356 a0001c0004t0097g0080 a0001c0004t0168g0257 a0001c0005t0248g0357 a0001c0005t0255g0358 a0002c0001t0003g0253 a0002c0001t0003g0255 a0002c0001t0149g0260 a0002c0001t0198g0259 a0003c0002t0105g0251 a0003c0002t0122g0252 a0003c0002t0194g0331 a0003c0002t0200g0332 a0003c0013t0190g0330 a0011c0025t0228g0258	17	366	0.0465	13	c.7+2 others(26): Show c.7+2130_7+2131insCAAAAAAAAAAAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	1/9			chr18	TogoVar
COLEC12_chr18_311737_505701	502331	T T	TTTTTTTT others(6): Show TTTTTTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01123.hp1 HG02300.hp1 others(2): Show HG01099.hp2 HG01123.hp1 HG02300.hp1 HG03209.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0002c0007 others(1): Show a0001c0003 a0002c0001 a0002c0007 a0003c0010	a0001c0003t0060 a0002c0001t0045 a0002c0001t0231 others(2): Show a0001c0003t0060 a0002c0001t0045 a0002c0001t0231 a0002c0007t0223 a0003c0010t0254	a0001c0003t0060g0162 a0002c0001t0045g0038 a0002c0001t0231g0013 others(2): Show a0001c0003t0060g0162 a0002c0001t0045g0038 a0002c0001t0231g0013 a0002c0007t0223g0040 a0003c0010t0254g0362	5	366	0.0137	13	c.-18 others(24): Show c.-1818_-1817insGAAAGAAAAAAAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		1631		chr18	TogoVar
COLEC12_chr18_311737_505701	502332	T T	TTTTTTTT others(6): Show TTTTTTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03831.hp2 NA19082.hp2 others(1): Show HG02145.hp1 HG03831.hp2 NA19082.hp2 NA20300.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0002 a0002c0001 a0003c0002	a0002c0001t0234 a0003c0002t0011 a0003c0002t0030 others(1): Show a0002c0001t0234 a0003c0002t0011 a0003c0002t0030 a0003c0002t0112	a0002c0001t0234g0333 a0003c0002t0011g0032 a0003c0002t0030g0094 others(1): Show a0002c0001t0234g0333 a0003c0002t0011g0032 a0003c0002t0030g0094 a0003c0002t0112g0121	4	366	0.0109	13	c.-18 others(24): Show c.-1819_-1818insGAAAGAAAAAAAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		1632		chr18	TogoVar
COMMD10_chr5_116080025_116298287	116158149	T T	TTCCCCTC others(6): Show TTCCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	350	0.0029	13	c.510 others(32): Show c.510+23975_510+23987dupCCTCCCTCCCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158170	C C	CCTCCCTC others(6): Show CCTCCCTCCTCTCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01123.hp2 HG01256.hp1 others(16): Show HG00544.hp2 HG01123.hp2 HG01256.hp1 HG01258.hp1 HG02132.hp1 HG02257.hp1 HG02602.hp1 HG02622.hp1 HG03492.hp2 HG03516.hp1 NA18949.hp1 NA18966.hp1 NA19001.hp2 NA19055.hp1 NA19056.hp1 NA19063.hp2 NA19068.hp2 NA19070.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0087 a0001c0001t0001g0192 a0001c0001t0001g0251 others(16): Show a0001c0001t0001g0087 a0001c0001t0001g0192 a0001c0001t0001g0251 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0002t0001g0184 a0001c0002t0001g0188 a0001c0004t0001g0196 a0001c0004t0001g0262 a0001c0004t0001g0263 a0001c0004t0001g0264	19	350	0.0543	13	c.510 others(32): Show c.510+23996_510+23997insCTCCTCTCTCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCCTCT others(6): Show CTCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19087.hp1 NA19091.hp1 HG00438.hp2 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0078 a0001c0001t0001g0269 a0001c0001t0001g0270	3	350	0.0086	13	c.510 others(32): Show c.510+24113_510+24114insTCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG02273.hp1 NA18946.hp2 others(4): Show HG01975.hp1 HG02273.hp1 NA18946.hp2 NA18963.hp2 NA18994.hp2 NA19065.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0225 others(4): Show a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0257	7	350	0.0200	13	c.31 others(24): Show c.3119_*3120insAAAAAAAAAAAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(6): Show AAAAAAAAAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00621.hp1 others(21): Show HG00438.hp2 HG00597.hp2 HG00621.hp1 HG01891.hp1 HG01943.hp1 HG02129.hp1 HG02135.hp2 HG02523.hp2 HG02683.hp2 HG02735.hp1 HG03041.hp1 HG03654.hp2 HG03669.hp1 HG04115.hp2 HG04204.hp2 NA18964.hp2 NA18966.hp2 NA18988.hp1 NA18998.hp1 NA19005.hp2 NA19055.hp2 NA19079.hp2 NA19087.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0207 others(21): Show a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0346 a0001c0005t0001g0145	24	350	0.0686	13	c.31 others(24): Show c.3119_*3120insAAAAAAAAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAT others(6): Show AAAAAAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG01167.hp2 others(9): Show HG00099.hp1 HG00408.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01517.hp1 HG03239.hp1 HG03710.hp1 NA18986.hp1 NA18992.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0199 a0001c0001t0001g0202 others(9): Show a0001c0001t0001g0084 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0001g0258	12	350	0.0343	13	c.31 others(24): Show c.3119_*3120insAAAAAATAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAATAAT others(6): Show AAAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 NA19068.hp1 HG03453.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0250 a0001c0002t0001g0182 a0001c0001t0001g0250 a0001c0002t0001g0182	2	350	0.0057	13	c.31 others(24): Show c.3119_*3120insAAATAATAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD1_chr2_61900674_62141058	62121371	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02976.hp1 others(2): Show HG02896.hp2 HG02897.hp2 HG02976.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 others(2): Show a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262	5	286	0.0175	13	c.463 others(32): Show c.463-14446_463-14434dupAAAAAAAAAAAAA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD7_chr20_32697699_32748467	32737379	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0361 a0001c0001t0002g0361	1	400	0.0025	13	c.84+ others(28): Show c.84+5928_84+5929insCTTTTTTTTTTTT	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	1/8			chr20	TogoVar
COMMD8_chr4_47445787_47468702	47447407	A A	ACACACAC others(6): Show ACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 NA18955.hp1 NA18991.hp2 HG02698.hp2 NA18955.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0040	3	396	0.0076	13	c.42 others(24): Show c.4237_*4238insGTGTGTGTGTGTG	COMMD8	ENSG00000169019.11	transcript	ENST00000381571.6	protein_coding		3379		chr4	TogoVar
COMTD1_chr10_75228641_75240957	75232740	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(52): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01433.hp1 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 NA18612.hp1 NA18944.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18985.hp1 NA18989.hp1 NA18994.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19068.hp2 NA19079.hp1 NA19085.hp1 NA20805.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0007 a0001c0001 a0001c0003 a0007c0007	a0001c0001t0001 a0001c0003t0001 a0007c0007t0001 a0001c0001t0001 a0001c0003t0001 a0007c0007t0001	a0001c0001t0001g0001 a0001c0003t0001g0006 a0007c0007t0001g0014 a0001c0001t0001g0001 a0001c0003t0001g0006 a0007c0007t0001g0014	55	410	0.1342	13	c.13 others(24): Show c.1332_*1333insAAAAAAAAAAAAA	COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding		900		chr10	TogoVar
COP1_chr1_175939831_176212286	175949168	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03486.hp2 HG01243.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0257 a0001c0001t0001g0161 a0001c0001t0001g0257	2	300	0.0067	13	c.213 others(32): Show c.2134-1942_2134-1930dupTTTTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18956.hp2 HG03927.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0074 a0001c0002t0002g0007 a0001c0001t0001g0074 a0001c0002t0002g0007	2	300	0.0067	13	c.213 others(32): Show c.2134-8528_2134-8527insTGTGTGTGTGTGT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955800	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	300	0.0033	13	c.213 others(32): Show c.2134-8562_2134-8561insGTGTGTGTGTGTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176174007	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	300	0.0033	13	c.565 others(30): Show c.565+1902_565+1903insCTTTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	3/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176196881	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0268 a0001c0006t0012g0268	1	300	0.0033	13	c.407 others(30): Show c.407+9690_407+9691insTTTTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	1/19			chr1	TogoVar
COPB1_chr11_14452512_14504811	14454637	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02486.hp2 HG02572.hp2 others(4): Show HG02280.hp1 HG02486.hp2 HG02572.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0274 a0001c0001t0001g0348 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0274 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350	7	386	0.0181	13	c.31 others(24): Show c.3174_*3186dupTTTTTTTTTTTTT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding		2874		chr11	TogoVar
COPB1_chr11_14452512_14504811	14477389	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp2 HG02257.hp2 others(8): Show HG01192.hp1 HG01891.hp2 HG02257.hp2 HG02818.hp2 HG03486.hp1 HG03579.hp1 NA18985.hp2 NA18991.hp1 NA19070.hp2 NA19090.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0001t0001g0168 others(8): Show a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0326 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0343 a0003c0003t0001g0329	11	386	0.0285	13	c.135 others(30): Show c.1359-387_1359-375dupTTTTTTTTTTTTT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	11/21			chr11	TogoVar
COPE_chr19_18894514_18924387	18902716	A A	AAAGGAAG others(6): Show AAAGGAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01109.hp1 others(34): Show HG00642.hp1 HG00741.hp2 HG01109.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG03491.hp1 HG03492.hp1 HG04228.hp2 NA18939.hp1 NA18954.hp2 NA18962.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19005.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19065.hp1 NA19067.hp2 NA19079.hp1 NA19080.hp2 NA19088.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0096 others(34): Show a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0096 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0191 a0001c0002t0001g0210 a0001c0002t0001g0217 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0233 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0239 a0001c0002t0001g0243 a0001c0002t0001g0246 a0001c0002t0001g0262	37	330	0.1121	13	c.735 others(28): Show c.735+551_735+552insCCTTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPG2_chr7_130501238_130673748	130557817	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	326	0.0031	13	c.112 others(32): Show c.1129-2698_1129-2686dupTTTTTTTTTTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	12/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130659354	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp2 HG01167.hp1 others(29): Show HG01069.hp1 HG01099.hp2 HG01167.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01943.hp2 HG02129.hp2 HG02280.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02886.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp1 HG03927.hp1 HG06807.hp2 NA18906.hp1 NA18964.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0029 others(29): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0268 a0001c0001t0002g0151 a0001c0001t0004g0128 a0001c0001t0004g0131 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0005g0247 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0009g0252	32	326	0.0982	13	c.243 others(30): Show c.243+3600_243+3612dupTTTTTTTTTTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	4/23			chr7	TogoVar
COPS4_chr4_83030183_83080818	83034147	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02886.hp2 HG01891.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0029 a0001c0001t0001g0033	2	372	0.0054	13	c.-10 others(24): Show c.-1078_-1077insAAAAAAAAAAAAA	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding		1035		chr4	TogoVar
COPS7B_chr2_231781445_231814253	231808798	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0171 a0001c0001t0035g0171	1	348	0.0029	13	c.11 others(24): Show c.1153_*1154insTGTGTGTGTGTGT	COPS7B	ENSG00000144524.18	transcript	ENST00000350033.8	protein_coding	7/7	1154		chr2	TogoVar
COPZ1_chr12_54320131_54356846	54323622	C C	CTCTTTCT others(6): Show CTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	368	0.0027	13	c.-15 others(24): Show c.-1542_-1541insTCTTTCTTTCTTT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		1508		chr12	TogoVar
COPZ1_chr12_54320131_54356846	54323670	T T	TTCTTTCT others(6): Show TTCTTTCTTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0084 a0001c0001t0006g0084	1	368	0.0027	13	c.-14 others(24): Show c.-1494_-1493insTCTTTCTTTCTTC	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		1460		chr12	TogoVar
COPZ2_chr17_48021167_48042797	48021893	A A	ACTTTTTT others(6): Show ACTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18997.hp2 NA19002.hp2 others(1): Show NA18978.hp1 NA18997.hp2 NA19002.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0004 a0001c0001t0001g0030	4	396	0.0101	13	c.45 others(24): Show c.4534_*4535insAAAAAAAAAAAAG	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding		4273		chr17	TogoVar
COPZ2_chr17_48021167_48042797	48021893	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00733.hp2 others(32): Show HG00408.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01106.hp2 HG01123.hp2 HG01255.hp1 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02109.hp2 HG02148.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02698.hp2 HG02738.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03209.hp1 HG03654.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18950.hp1 NA19085.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0119	35	396	0.0884	13	c.45 others(24): Show c.4534_*4535insAAAAAAAAAAAAA	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding		4273		chr17	TogoVar
COQ10A_chr12_56261942_56275966	56266280	A A	ATAAATAA others(6): Show ATAAATAAATAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	13	c.-83 others(22): Show c.-839_-838insTAAATAAATAAAG	COQ10A	ENSG00000135469.14	transcript	ENST00000308197.10	protein_coding		661		chr12	TogoVar
COQ5_chr12_120498279_120534158	120526698	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01071.hp2 others(9): Show HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01243.hp2 HG02055.hp2 HG02273.hp2 HG02572.hp1 HG02717.hp2 HG02723.hp1 NA18949.hp2 NA18975.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0115 a0002c0003t0001g0035 a0002c0003t0001g0275 others(8): Show a0001c0001t0001g0115 a0002c0003t0001g0035 a0002c0003t0001g0275 a0002c0003t0001g0280 a0002c0003t0001g0281 a0002c0003t0001g0290 a0002c0003t0001g0307 a0002c0003t0001g0318 a0002c0003t0001g0323 a0002c0003t0001g0324 a0002c0003t0001g0327	12	388	0.0309	13	c.202 others(30): Show c.202+2229_202+2241dupAAAAAAAAAAAAA	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	1/6			chr12	TogoVar
COQ5_chr12_120498279_120534158	120527988	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18964.hp1 NA18946.hp2 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0108 a0001c0002t0002g0109	2	388	0.0052	13	c.202 others(28): Show c.202+939_202+951dupTTTTTTTTTTTTT	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	1/6			chr12	TogoVar
COQ7_chr16_19062614_19085095	19077590	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0047 a0002c0003t0002g0047	1	372	0.0027	13	c.576 others(28): Show c.576+218_576+230dupTTTTTTTTTTTTT	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
COQ8A_chr1_226935294_226992544	226936611	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01167.hp1 HG01169.hp2 others(5): Show HG00741.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01358.hp2 HG03942.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0001t0001 a0001c0001t0002 a0001c0003t0003	a0001c0001t0001g0031 a0001c0001t0001g0205 a0001c0001t0002g0284 others(5): Show a0001c0001t0001g0031 a0001c0001t0001g0205 a0001c0001t0002g0284 a0001c0003t0003g0058 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0067 a0001c0003t0003g0073	8	412	0.0194	13	c.-37 others(24): Show c.-3798_-3797insTTTTTTTTTTTTT	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding		3682		chr1	TogoVar
COQ8A_chr1_226935294_226992544	226971544	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03834.hp2 HG02071.hp1 HG03834.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0370 a0003c0005t0005g0377 a0003c0005t0005g0370 a0003c0005t0005g0377	2	412	0.0049	13	c.655 others(30): Show c.655+5812_655+5813insAAAAAAAAAAAAA	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CORO2A_chr9_98115975_98197637	98119794	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 NA21309.hp1 HG01243.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0277 a0001c0001t0019g0321 a0001c0001t0003g0277 a0001c0001t0019g0321	2	342	0.0059	13	c.49 others(24): Show c.4979_*4980insAAAAAAAAAAAAA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		1180		chr9	TogoVar

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