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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
COMMD1_chr2_61900674_62141058	62098442	GGTCAGCT others(9): Show GGTCAGCTAGGGTTGAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(140): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00639.hp1 HG00673.hp2 HG01071.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19072.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0002c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(140): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0199 a0001c0001t0001g0212 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0002g0237 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0003g0039 a0001c0001t0003g0087 a0001c0001t0003g0261 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0002t0001g0025 a0001c0002t0001g0105 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0182 a0001c0003t0001g0270 a0001c0003t0001g0272 a0001c0005t0001g0126 a0002c0004t0001g0021 a0002c0004t0001g0081	143	286	0.5000	-16	c.463 others(35): Show c.463-37373_463-37358delTGTCAGCTAGGGTTGA		COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD6_chr13_75520214_75542841	75524456	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00558.hp1 others(48): Show HG00408.hp1 HG00544.hp2 HG00558.hp1 HG01167.hp2 HG01175.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG02027.hp2 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp2 HG02523.hp1 HG03471.hp1 HG03540.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 NA18944.hp2 NA18948.hp2 NA18955.hp2 NA18957.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA19001.hp2 NA19004.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19074.hp1 NA19086.hp1 NA19087.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 a0002c0003t0002	a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0019 others(14): Show a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0031 a0001c0001t0002g0042 a0001c0001t0002g0078 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0138 a0001c0001t0008g0045 a0001c0001t0012g0118 a0002c0003t0002g0140	51	396	0.1288	-16	c.21 others(27): Show c.2117_*2132delTTTTTTTTTTTTTTTT		COMMD6	ENSG00000188243.14	transcript	ENST00000682242.1	protein_coding					757		chr13	TogoVar
COMMD8_chr4_47445787_47468702	47456267	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	396	0.0025	-16	c.375 others(31): Show c.375+294_375+309delATATATATATATATAT		COMMD8	ENSG00000169019.11	transcript	ENST00000381571.6	protein_coding	3/4						chr4	TogoVar
COMMD9_chr11_36267292_36294424	36286410	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(91): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02129.hp2 HG02602.hp1 HG02647.hp2 HG02683.hp2 HG02970.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03927.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18961.hp2 NA18963.hp2 NA18969.hp2 NA18977.hp1 NA18979.hp2 NA18984.hp1 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19012.hp2 NA19030.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19090.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(65): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0002g0270 a0001c0001t0004g0261 a0001c0001t0004g0302 a0001c0001t0010g0287 a0001c0001t0010g0291 a0001c0001t0015g0262	94	448	0.2098	-16	c.51+ others(31): Show c.51+2936_51+2951delCTTTCTTTCTTTCTTT		COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5						chr11	TogoVar
COMT_chr22_19936772_19974975	19952953	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG01884.hp2 others(28): Show HG01243.hp1 HG01255.hp1 HG01884.hp2 HG01891.hp1 HG02074.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA18951.hp2 NA18980.hp1 NA18994.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001 a0002c0007	a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0009 a0001c0003t0028 a0001c0003t0029 a0001c0004t0002 a0001c0004t0004 a0001c0004t0011 a0002c0001t0001 a0002c0001t0004 a0002c0007t0001	a0001c0002t0001g0189 a0001c0002t0001g0230 a0001c0002t0001g0353 others(27): Show a0001c0002t0001g0189 a0001c0002t0001g0230 a0001c0002t0001g0353 a0001c0002t0001g0355 a0001c0002t0002g0383 a0001c0003t0002g0374 a0001c0003t0003g0392 a0001c0003t0006g0393 a0001c0003t0009g0123 a0001c0003t0009g0142 a0001c0003t0009g0231 a0001c0003t0009g0395 a0001c0003t0028g0394 a0001c0003t0029g0297 a0001c0004t0002g0299 a0001c0004t0004g0020 a0001c0004t0004g0286 a0001c0004t0004g0289 a0001c0004t0004g0291 a0001c0004t0004g0292 a0001c0004t0004g0298 a0001c0004t0011g0229 a0001c0004t0011g0290 a0002c0001t0001g0039 a0002c0001t0001g0041 a0002c0001t0001g0285 a0002c0001t0001g0293 a0002c0001t0004g0040 a0002c0007t0001g0284 a0002c0007t0001g0288	31	426	0.0728	-16	c.-91 others(33): Show c.-91-8206_-91-8191delTAAATAAATAAATAAA		COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr22	TogoVar
COP1_chr1_175939831_176212286	176079916	GGGAAGCT others(9): Show GGGAAGCTGAGGCATGA	G G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	300	0.0033	-16	c.127 others(35): Show c.1277+1220_1277+1235delTCATGCCTCAGCTTCC		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	11/19						chr1	TogoVar
COP1_chr1_175939831_176212286	176099505	GTCTCTCT others(9): Show GTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG01109.hp1 others(28): Show HG00099.hp1 HG00140.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02055.hp1 HG02293.hp1 HG02300.hp1 HG02647.hp2 HG02735.hp1 HG02818.hp1 HG03130.hp1 HG03486.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG04184.hp2 HG06807.hp2 NA18954.hp2 NA18981.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 others(28): Show a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0005g0275 a0001c0001t0005g0276	31	300	0.1033	-16	c.102 others(37): Show c.1027-13631_1027-13616delGAGAGAGAGAGAGAGA		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	9/19						chr1	TogoVar
COP1_chr1_175939831_176212286	176151309	GAGAAAGA others(9): Show GAGAAAGAAAGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02622.hp1 HG02258.hp2 HG02559.hp2 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0011 a0001c0002t0002 a0001c0002t0011	a0001c0002t0002g0005 a0001c0002t0002g0018 a0001c0002t0011g0267 a0001c0002t0002g0005 a0001c0002t0002g0018 a0001c0002t0011g0267	3	300	0.0100	-16	c.763 others(33): Show c.763-2251_763-2236delTTCCTTCTTTCTTTCT		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	5/19						chr1	TogoVar
COP1_chr1_175939831_176212286	176151349	AAGAAAAA others(9): Show AAGAAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	300	0.0033	-16	c.763 others(33): Show c.763-2291_763-2276delCTTTCTTTCTTTTTCT		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	5/19						chr1	TogoVar
COP1_chr1_175939831_176212286	176151353	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01175.hp2 others(11): Show HG01070.hp1 HG01071.hp2 HG01175.hp2 HG01256.hp1 HG01496.hp1 HG02293.hp2 HG02922.hp2 HG03471.hp1 HG03492.hp1 HG03654.hp1 HG04204.hp2 NA18956.hp2 NA18982.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0010 a0002c0003t0001 a0001c0001t0001 a0001c0001t0010 a0002c0003t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0074 others(11): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0115 a0001c0001t0001g0134 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0199 a0001c0001t0010g0098 a0002c0003t0001g0263 a0002c0003t0001g0264	14	300	0.0467	-16	c.763 others(33): Show c.763-2295_763-2280delCTTTCTTTCTTTCTTT		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	5/19						chr1	TogoVar
COP1_chr1_175939831_176212286	176167406	CTGAATGA others(9): Show CTGAATGAATGAATGAA	C C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	300	0.0033	-16	c.566 others(33): Show c.566-3531_566-3516delTTCATTCATTCATTCA		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	3/19						chr1	TogoVar
COPA_chr1_160283594_160348250	160300344	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG03471.hp2 others(1): Show HG01891.hp1 HG02451.hp2 HG03471.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0003 a0002c0006t0006 a0001c0001t0003 a0002c0006t0006	a0001c0001t0003g0053 a0002c0006t0006g0180 a0002c0006t0006g0181 others(1): Show a0001c0001t0003g0053 a0002c0006t0006g0180 a0002c0006t0006g0181 a0002c0006t0006g0182	4	366	0.0109	-16	c.166 others(35): Show c.1668-1096_1668-1081delATTTATTTATTTATTT		COPA	ENSG00000122218.17	transcript	ENST00000241704.8	protein_coding	17/32						chr1	TogoVar
COPA_chr1_160283594_160348250	160318476	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02886.hp1 HG03942.hp2 others(2): Show HG01123.hp2 HG02886.hp1 HG03942.hp2 NA18978.hp2 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0002t0002 a0002c0003t0006 a0001c0001t0003 a0001c0002t0002 a0002c0003t0006	a0001c0001t0003g0049 a0001c0002t0002g0095 a0001c0002t0002g0151 others(2): Show a0001c0001t0003g0049 a0001c0002t0002g0095 a0001c0002t0002g0151 a0002c0003t0006g0194 a0002c0003t0006g0198	5	366	0.0137	-16	c.707 others(33): Show c.707-4367_707-4352delGTTTTTTTTTTTTTTT		COPA	ENSG00000122218.17	transcript	ENST00000241704.8	protein_coding	8/32						chr1	TogoVar
COPB1_chr11_14452512_14504811	14470899	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00642.hp1 others(48): Show HG00408.hp2 HG00423.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01123.hp2 HG02004.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02698.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03710.hp1 HG04115.hp2 HG04199.hp2 NA18612.hp2 NA18747.hp2 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18972.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp2 NA18989.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19054.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19068.hp2 NA19076.hp1 NA19085.hp1 NA19088.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0001g0164 a0001c0001t0001g0177 others(47): Show a0001c0001t0001g0022 a0001c0001t0001g0164 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0359 a0001c0001t0002g0060	51	386	0.1321	-16	c.173 others(35): Show c.1738-1352_1738-1337delGTGTGTGTGTGTGTGT		COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	14/21						chr11	TogoVar
COPB1_chr11_14452512_14504811	14470930	ACACACAC others(9): Show ACACACACACACACACT	A A	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19087.hp1 NA18964.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0358 a0001c0001t0001g0353 a0001c0001t0001g0358	2	386	0.0052	-16	c.173 others(35): Show c.1738-1383_1738-1368delAGTGTGTGTGTGTGTG		COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	14/21						chr11	TogoVar
COPE_chr19_18894514_18924387	18901117	GGGGGACC others(9): Show GGGGGACCTGAGTGCCT	G G	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0083 a0002c0003t0001g0083	1	330	0.0030	-16	c.736 others(31): Show c.736-684_736-669delAGGCACTCAGGTCCCC		COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9						chr19	TogoVar
COPE_chr19_18894514_18924387	18902757	AAGGAAGG others(9): Show AAGGAAGGAAGGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	330	0.0030	-16	c.735 others(31): Show c.735+495_735+510delCTTTCCCTTCCTTCCT		COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9						chr19	TogoVar
COPE_chr19_18894514_18924387	18902772	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02145.hp2 others(4): Show HG02055.hp2 HG02109.hp2 HG02145.hp2 HG03130.hp1 HG03209.hp2 NA18522.hp2 NA18960.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0065 a0003c0005t0001g0267 a0003c0005t0001g0268 others(4): Show a0001c0001t0001g0065 a0003c0005t0001g0267 a0003c0005t0001g0268 a0003c0005t0001g0269 a0003c0005t0001g0271 a0003c0005t0001g0272 a0003c0005t0001g0273	7	330	0.0212	-16	c.735 others(31): Show c.735+480_735+495delCTTCCTTCCTTCCTTC		COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9						chr19	TogoVar
COPG2_chr7_130501238_130673748	130513341	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18967.hp1 HG01978.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0024 a0001c0001t0012g0206 a0001c0001t0002g0024 a0001c0001t0012g0206	2	326	0.0061	-16	c.215 others(35): Show c.2150-4698_2150-4683delCACACACACACACACA		COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23						chr7	TogoVar
COPS2_chr15_49117727_49160599	49120571	ACCGCTCT others(9): Show ACCGCTCTCATTTATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02486.hp2 others(8): Show HG01884.hp1 HG02055.hp2 HG02486.hp2 HG02572.hp1 HG02723.hp1 HG02818.hp1 HG03098.hp1 HG03209.hp1 HG03471.hp2 HG03579.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0038 a0001c0001t0008 a0001c0001t0038	a0001c0001t0008g0010 a0001c0001t0008g0071 a0001c0001t0008g0072 others(3): Show a0001c0001t0008g0010 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0074 a0001c0001t0008g0075 a0001c0001t0038g0073	11	398	0.0276	-16	c.73 others(27): Show c.7363_*7378delAAATAAATGAGAGCGG		COPS2	ENSG00000166200.15	transcript	ENST00000388901.10	protein_coding					2155		chr15	TogoVar
COPS4_chr4_83030183_83080818	83047066	AACTGCCT others(9): Show AACTGCCTTAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18945.hp2 HG00673.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0188 a0001c0001t0001g0159 a0001c0001t0001g0188	2	372	0.0054	-16	c.154 others(33): Show c.154+1375_154+1390delAATACTGCCTTAAAAA		COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
COPS5_chr8_67038079_67067133	67041968	TACACACA others(9): Show TACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02809.hp2 HG02896.hp1 others(3): Show HG00639.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0066 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0066 a0001c0002t0001g0025 a0001c0002t0001g0197	6	292	0.0206	-16	c.12 others(27): Show c.1249_*1264delGTGTGTGTGTGTGTGT		COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding					1110		chr8	TogoVar
COPS5_chr8_67038079_67067133	67056648	AAAAAATA others(9): Show AAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18962.hp2 NA19011.hp1 HG00621.hp1 NA18962.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0139 a0001c0001t0001g0218 a0001c0001t0001g0031 a0001c0001t0001g0139 a0001c0001t0001g0218	3	292	0.0103	-16	c.574 others(29): Show c.574-60_574-45delATATATATATATTTTT		COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7						chr8	TogoVar
COPS5_chr8_67038079_67067133	67056650	AAAATATA others(9): Show AAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03927.hp1 HG04228.hp1 others(5): Show HG02135.hp1 HG03927.hp1 HG04228.hp1 NA18946.hp1 NA18961.hp2 NA18979.hp1 NA18985.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0030 a0001c0001t0001g0143 a0001c0001t0001g0144 others(5): Show a0001c0001t0001g0030 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0003t0001g0134	8	292	0.0274	-16	c.574 others(29): Show c.574-62_574-47delATATATATATATATTT		COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7						chr8	TogoVar
COPS5_chr8_67038079_67067133	67056652	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01109.hp1 HG01258.hp2 others(9): Show HG00544.hp2 HG01109.hp1 HG01258.hp2 HG01993.hp1 HG02165.hp1 HG02258.hp2 HG04199.hp1 NA18957.hp1 NA18974.hp2 NA18983.hp1 NA19002.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0054 a0001c0001t0001g0071 others(8): Show a0001c0001t0001g0021 a0001c0001t0001g0054 a0001c0001t0001g0071 a0001c0001t0001g0097 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170	12	292	0.0411	-16	c.574 others(29): Show c.574-64_574-49delATATATATATATATAT		COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7						chr8	TogoVar
COPS5_chr8_67038079_67067133	67056696	TATATATA others(9): Show TATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0252 a0001c0002t0002g0252	1	292	0.0034	-16	c.574 others(30): Show c.574-108_574-93delTTATATATATATATAT		COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7						chr8	TogoVar
COPS5_chr8_67038079_67067133	67056698	TATATATA others(9): Show TATATATATATATAAAA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0242 a0001c0002t0002g0242	1	292	0.0034	-16	c.574 others(30): Show c.574-110_574-95delTTTTATATATATATAT		COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7						chr8	TogoVar
COPZ1_chr12_54320131_54356846	54323661	TTTCTTTC others(9): Show TTTCTTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01433.hp2 HG02040.hp1 HG00609.hp1 HG01433.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0326 a0001c0001t0001g0332 a0001c0001t0001g0250 a0001c0001t0001g0326 a0001c0001t0001g0332	3	368	0.0082	-16	c.-15 others(27): Show c.-1502_-1487delTTCTTTCCTTCCTTCC		COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding					1469		chr12	TogoVar
COPZ1_chr12_54320131_54356846	54326961	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG02647.hp1 HG02258.hp2 HG02615.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0290 a0001c0001t0004g0044 a0001c0001t0004g0289 a0001c0001t0002g0290 a0001c0001t0004g0044 a0001c0001t0004g0289	3	368	0.0082	-16	c.18+ others(31): Show c.18+1802_18+1817delTTTTTTTTTTTTTTTT		COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
COQ10B_chr2_197448552_197480310	197463954	AAAAAAAA others(9): Show AAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0173 a0001c0002t0002g0173	1	390	0.0026	-16	c.447 others(33): Show c.447+1225_447+1240delAAAAAAAAAATATATA		COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ10B_chr2_197448552_197480310	197463962	AAAATATA others(9): Show AAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	390	0.0026	-16	c.447 others(33): Show c.447+1233_447+1248delAATATATATATATATA		COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ2_chr4_83258824_83289798	83277973	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp2 NA19030.hp1 HG02965.hp2 HG03195.hp2 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0027 a0002c0003t0001g0117 a0002c0003t0001g0027 a0002c0003t0001g0117	3	344	0.0087	-16	c.420 others(31): Show c.420+959_420+974delGTGTGTGTGTGTGTGT		COQ2	ENSG00000173085.15	transcript	ENST00000647002.2	protein_coding	2/6						chr4	TogoVar
COQ3_chr6_99364401_99399195	99378105	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00639.hp1 others(49): Show HG00408.hp1 HG00544.hp1 HG00639.hp1 HG00735.hp2 HG01099.hp1 HG01243.hp1 HG01361.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02165.hp1 HG02451.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG03017.hp2 HG03225.hp1 HG03831.hp1 HG04228.hp1 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp2 NA18967.hp2 NA18970.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19006.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19076.hp1 NA19084.hp2 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0003 a0001c0001 a0001c0006 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 a0003c0003t0003 a0003c0003t0004	a0001c0001t0001g0015 a0001c0001t0001g0096 a0001c0001t0001g0145 others(38): Show a0001c0001t0001g0015 a0001c0001t0001g0096 a0001c0001t0001g0145 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0228 a0001c0001t0002g0004 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0276 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0316 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0336 a0001c0001t0002g0340 a0001c0001t0002g0344 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0006t0002g0308 a0003c0003t0003g0053 a0003c0003t0003g0267 a0003c0003t0003g0268 a0003c0003t0004g0286	52	434	0.1198	-16	c.387 others(31): Show c.387-636_387-621delATATATATATATATAT		COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	3/6						chr6	TogoVar
COQ3_chr6_99364401_99399195	99378145	TATATATA others(9): Show TATATATATATATTTAG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG01243.hp2 others(2): Show HG00280.hp2 HG00733.hp1 HG01243.hp2 HG01952.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0121 a0002c0002t0002g0278 a0002c0002t0002g0283 others(2): Show a0002c0002t0001g0121 a0002c0002t0002g0278 a0002c0002t0002g0283 a0002c0002t0002g0299 a0002c0002t0002g0360	5	434	0.0115	-16	c.387 others(31): Show c.387-676_387-661delCTAAATATATATATAT		COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	3/6						chr6	TogoVar
COQ3_chr6_99364401_99399195	99378147	TATATATA others(9): Show TATATATATATTTAGAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18981.hp1 NA19064.hp2 HG00323.hp1 NA18981.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0226 a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0226	3	434	0.0069	-16	c.387 others(31): Show c.387-678_387-663delCTCTAAATATATATAT		COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	3/6						chr6	TogoVar
COQ3_chr6_99364401_99399195	99388891	GCACACAC others(9): Show GCACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG02486.hp2 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0081 a0002c0002t0002g0296 a0001c0001t0001g0081 a0002c0002t0002g0296	2	434	0.0046	-16	c.107 others(33): Show c.107-5083_107-5068delTGTGTGTGTGTGTGTG		COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	1/6						chr6	TogoVar
COQ4_chr9_128317839_128339072	128328253	GGACAGTA others(9): Show GGACAGTAAAGTGACCT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp2 HG02486.hp1 others(5): Show HG01099.hp2 HG01891.hp2 HG02486.hp1 HG02559.hp2 HG02897.hp2 HG02922.hp2 HG03209.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0009	8	374	0.0214	-16	c.402 others(33): Show c.402+2375_402+2390delCAGTAAAGTGACCTGA		COQ4	ENSG00000167113.11	transcript	ENST00000300452.8	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr9	TogoVar
COQ6_chr14_73945302_73968670	73958272	TTGTTGGT others(9): Show TTGTTGGTAGTTGAAGA	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19075.hp2 NA19075.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0073 a0008c0010t0001g0073	1	456	0.0022	-16	c.609 others(26): Show c.609_612+12delGTTGGTAGTTGAAGAT	p.Leu others(5): Show p.Leu204fs	COQ6	ENSG00000119723.17	transcript	ENST00000334571.7	protein_coding	5/12	640/2109	609/1407	203/468		INFO_REALIGN_3_PRIME	chr14	TogoVar
COQ8A_chr1_226935294_226992544	226944734	AGAGAGAG others(9): Show AGAGAGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01192.hp1 HG01255.hp1 others(11): Show HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01433.hp2 HG01978.hp1 HG02080.hp1 HG02622.hp2 HG02818.hp2 HG03209.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0003t0003 a0001c0006t0003	a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 others(10): Show a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0002g0069 a0001c0001t0002g0211 a0001c0002t0003g0007 a0001c0003t0003g0065 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0006t0003g0325	14	412	0.0340	-16	c.-10 others(33): Show c.-10+4349_-10+4364delAGTGAGAGAGAGAGAG		COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226956129	CTCTCCCT others(9): Show CTCTCCCTGGTTCCCAT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	412	0.0024	-16	c.-9- others(31): Show c.-9-5235_-9-5220delCCATTCTCCCTGGTTC		COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226956552	CCACTCTC others(9): Show CCACTCTCCCTGGTTCA	C C	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18989.hp1 NA18949.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0129 a0001c0001t0002g0237 a0001c0001t0001g0129 a0001c0001t0002g0237	2	412	0.0049	-16	c.-9- others(31): Show c.-9-4812_-9-4797delTTCACACTCTCCCTGG		COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226956630	ACACTCTC others(9): Show ACACTCTCCCTGGCTGC	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18967.hp1 NA18980.hp1 NA18747.hp2 NA18967.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0084 a0001c0001t0004g0103 a0001c0001t0004g0104	3	412	0.0073	-16	c.-9- others(31): Show c.-9-4725_-9-4710delTCCCTGGCTGCCACTC		COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226976183	CGGGACTG others(9): Show CGGGACTGCGGGGCTGT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02027.hp1 HG02071.hp1 others(4): Show HG00609.hp2 HG02027.hp1 HG02071.hp1 HG02165.hp2 HG03834.hp2 NA18948.hp1 NA18970.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0370 a0003c0005t0005g0371 a0003c0005t0005g0373 others(4): Show a0003c0005t0005g0370 a0003c0005t0005g0371 a0003c0005t0005g0373 a0003c0005t0005g0374 a0003c0005t0005g0375 a0003c0005t0005g0376 a0003c0005t0005g0377	7	412	0.0170	-16	c.656 others(33): Show c.656-1256_656-1241delGGGCTGTGGGACTGCG		COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226976371	GCTGCGGG others(9): Show GCTGCGGGGCTGTGGGA	G G	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	412	0.0024	-16	c.656 others(33): Show c.656-1056_656-1041delGGGCTGTGGGACTGCG		COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
CORO1C_chr12_108640109_108736518	108650180	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0014 a0003c0004t0014	a0003c0004t0014g0134 a0003c0004t0014g0134	1	326	0.0031	-16	c.100 others(35): Show c.1002-1176_1002-1161delAAAAAAAAAAAAAAAA		CORO1C	ENSG00000110880.11	transcript	ENST00000261401.8	protein_coding	8/10						chr12	TogoVar
CORO2A_chr9_98115975_98197637	98182578	TTCTTTGT others(9): Show TTCTTTGTGGGGTTGGA	T T	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	342	0.0029	-16	c.-1+ others(31): Show c.-1+9965_-1+9980delTCCAACCCCACAAAGA		CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	1/11						chr9	TogoVar
CORO2B_chr15_68573993_68732806	68587047	TATACACA others(9): Show TATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG03579.hp1 others(1): Show HG01891.hp2 HG02145.hp2 HG03579.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0199 a0001c0001t0002g0080 a0001c0001t0005g0018 others(1): Show a0001c0001t0001g0199 a0001c0001t0002g0080 a0001c0001t0005g0018 a0001c0001t0006g0019	4	256	0.0156	-16	c.15+ others(31): Show c.15+7772_15+7787delTACACACACACACACA		CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
CORO2B_chr15_68573993_68732806	68633514	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03579.hp1 HG02630.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0006 a0001c0001t0017	a0001c0001t0006g0019 a0001c0001t0017g0251 a0001c0001t0006g0019 a0001c0001t0017g0251	2	256	0.0078	-16	c.16- others(33): Show c.16-11629_16-11614delACACACACACACACAC		CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
CORO2B_chr15_68573993_68732806	68667233	TCTTCTAC others(9): Show TCTTCTACCTGCCTGCC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	256	0.0039	-16	c.216 others(35): Show c.216+21879_216+21894delACCTGCCTGCCCTTCT		CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
CORO2B_chr15_68573993_68732806	68704039	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02145.hp2 others(13): Show HG01109.hp2 HG01891.hp2 HG02145.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03209.hp1 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0001t0021	a0001c0001t0001g0132 a0001c0001t0001g0182 a0001c0001t0001g0228 others(13): Show a0001c0001t0001g0132 a0001c0001t0001g0182 a0001c0001t0001g0228 a0001c0001t0002g0080 a0001c0001t0002g0089 a0001c0001t0002g0114 a0001c0001t0002g0195 a0001c0001t0004g0133 a0001c0001t0005g0018 a0001c0001t0005g0165 a0001c0001t0006g0021 a0001c0001t0006g0053 a0001c0001t0006g0237 a0001c0001t0010g0252 a0001c0001t0016g0250 a0001c0001t0021g0033	16	256	0.0625	-16	c.334 others(33): Show c.334-6667_334-6652delCACACACACACACACA		CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr15	TogoVar

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