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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Select column to sort.

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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
COQ5_chr12_120498279_120534158	120526698	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG03453.hp1 HG01168.hp2 HG01169.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0301 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0301	3	388	0.0077	15	c.202 others(32): Show c.202+2227_202+2241dupAAAAAAAAAAAAAAA	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	1/6			chr12	TogoVar
COQ5_chr12_120498279_120534158	120527988	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0112	1	388	0.0026	15	c.202 others(30): Show c.202+937_202+951dupTTTTTTTTTTTTTTT	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	1/6			chr12	TogoVar
COQ7_chr16_19062614_19085095	19077590	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTATT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	372	0.0027	15	c.576 others(30): Show c.576+228_576+229insATTTTTTTTTTTTTT	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
COQ7_chr16_19062614_19085095	19077590	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp1 others(136): Show HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02809.hp2 HG02818.hp2 HG03017.hp1 HG03195.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp2 NA18991.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0005 a0001c0001 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(55): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0004g0008 a0001c0001t0004g0021 a0001c0001t0004g0023 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0104 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0162 a0001c0001t0010g0087 a0001c0001t0011g0148 a0001c0001t0011g0150 a0001c0001t0015g0008 a0003c0004t0001g0002 a0003c0004t0001g0142 a0003c0004t0001g0143 a0004c0005t0001g0001 a0004c0005t0001g0013 a0004c0005t0001g0133	139	372	0.3737	15	c.576 others(30): Show c.576+230_576+231insTTTTTTTTTTTTTTT	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
COQ7_chr16_19062614_19085095	19077604	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18962.hp2 HG04228.hp2 NA18962.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0004 a0001c0001t0001 a0007c0010t0004	a0001c0001t0001g0149 a0007c0010t0004g0086 a0001c0001t0001g0149 a0007c0010t0004g0086	2	372	0.0054	15	c.576 others(30): Show c.576+230_576+231insTTTTTTTTTTTTTTC	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5			chr16	TogoVar
COQ8A_chr1_226935294_226992544	226936611	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG04204.hp2 HG01175.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0035 a0001c0003t0003g0056 a0001c0003t0003g0035 a0001c0003t0003g0056	2	412	0.0049	15	c.-37 others(26): Show c.-3798_-3797insTTTTTTTTTTTTTTT	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding		3682		chr1	TogoVar
COQ8A_chr1_226935294_226992544	226978822	G G	GCACCCAC others(8): Show GCACCCACCTCTCACC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01106.hp1 HG01934.hp2 others(28): Show HG00609.hp2 HG01106.hp1 HG01934.hp2 HG02027.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02280.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp2 HG03834.hp2 HG06807.hp1 NA18948.hp1 NA18970.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0020 a0002c0004 a0002c0007 others(4): Show a0001c0020 a0002c0004 a0002c0007 a0002c0009 a0002c0012 a0002c0013 a0003c0005	a0001c0020t0003 a0002c0004t0003 a0002c0004t0008 others(5): Show a0001c0020t0003 a0002c0004t0003 a0002c0004t0008 a0002c0007t0003 a0002c0009t0009 a0002c0012t0003 a0002c0013t0003 a0003c0005t0005	a0001c0020t0003g0357 a0002c0004t0003g0015 a0002c0004t0003g0135 others(25): Show a0001c0020t0003g0357 a0002c0004t0003g0015 a0002c0004t0003g0135 a0002c0004t0003g0165 a0002c0004t0003g0166 a0002c0004t0003g0167 a0002c0004t0003g0168 a0002c0004t0003g0169 a0002c0004t0003g0191 a0002c0004t0003g0192 a0002c0004t0003g0193 a0002c0004t0008g0358 a0002c0004t0008g0359 a0002c0004t0008g0360 a0002c0007t0003g0026 a0002c0007t0003g0353 a0002c0007t0003g0354 a0002c0007t0003g0355 a0002c0009t0009g0028 a0002c0012t0003g0190 a0002c0013t0003g0136 a0003c0005t0005g0370 a0003c0005t0005g0371 a0003c0005t0005g0373 a0003c0005t0005g0374 a0003c0005t0005g0375 a0003c0005t0005g0376 a0003c0005t0005g0377	31	412	0.0752	15	c.730 others(32): Show c.730+1302_730+1303insCCACCTCTCACCCAC	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8B_chr19_40686530_40721886	40695326	A A	AAAAAAAA others(8): Show AAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(168): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01258.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19067.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp1 NA19090.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0007 a0008 a0009 a0010 a0011 a0013	a0001c0002 a0001c0003 a0001c0004 others(15): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0012 a0001c0018 a0001c0019 a0001c0020 a0002c0001 a0002c0023 a0002c0024 a0005c0011 a0007c0015 a0008c0017 a0009c0016 a0010c0013 a0011c0021 a0013c0027	a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 others(16): Show a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0012t0001 a0001c0018t0003 a0001c0019t0001 a0001c0020t0001 a0002c0001t0001 a0002c0023t0001 a0002c0024t0001 a0005c0011t0001 a0007c0015t0001 a0008c0017t0001 a0009c0016t0001 a0010c0013t0001 a0011c0021t0001 a0013c0027t0005	a0001c0002t0001g0004 a0001c0002t0001g0014 a0001c0002t0001g0036 others(148): Show a0001c0002t0001g0004 a0001c0002t0001g0014 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0078 a0001c0002t0001g0081 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0201 a0001c0002t0001g0218 a0001c0002t0001g0232 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0002t0001g0342 a0001c0002t0004g0343 a0001c0002t0004g0344 a0001c0002t0004g0345 a0001c0003t0001g0003 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0174 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0331 a0001c0004t0001g0268 a0001c0007t0001g0032 a0001c0007t0001g0242 a0001c0007t0001g0263 a0001c0012t0001g0061 a0001c0018t0003g0228 a0001c0019t0001g0332 a0001c0020t0001g0233 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0131 a0002c0001t0001g0348 a0002c0001t0001g0349 a0002c0001t0001g0350 a0002c0023t0001g0063 a0002c0024t0001g0351 a0005c0011t0001g0167 a0007c0015t0001g0188 a0008c0017t0001g0222 a0009c0016t0001g0197 a0010c0013t0001g0175 a0011c0021t0001g0200 a0013c0027t0005g0039	171	410	0.4171	15	c.120 others(32): Show c.1209+648_1209+662dupCTTTTCTTTTTTTTT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	13/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40695326	A A	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp2 HG01496.hp2 others(1): Show HG00639.hp1 HG01175.hp2 HG01496.hp2 HG02895.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0241 a0001c0004t0001g0259 a0001c0004t0001g0260 others(1): Show a0001c0004t0001g0241 a0001c0004t0001g0259 a0001c0004t0001g0260 a0001c0004t0001g0262	4	410	0.0098	15	c.120 others(32): Show c.1209+662_1209+663insCTTTTCTTTTCTTTT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	13/14			chr19	TogoVar
CORIN_chr4_47589001_47843067	47632753	A A	AGATAGAT others(8): Show AGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03225.hp1 HG02257.hp2 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0227 a0002c0003t0001g0230 a0002c0003t0001g0227 a0002c0003t0001g0230	2	264	0.0076	15	c.219 others(34): Show c.2199-6233_2199-6232insATCTATCTATCTATC	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	16/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47632757	A A	AGATAGAT others(8): Show AGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG01070.hp2 others(14): Show HG00408.hp2 HG00642.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01978.hp2 HG02056.hp2 HG02071.hp2 HG02145.hp2 HG02698.hp1 HG02970.hp2 HG04199.hp1 NA18947.hp2 NA18994.hp2 NA19075.hp1 NA19081.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0002c0003 a0005c0027 others(1): Show a0001c0001 a0002c0003 a0005c0027 a0009c0014	a0001c0001t0003 a0001c0001t0009 a0002c0003t0003 others(2): Show a0001c0001t0003 a0001c0001t0009 a0002c0003t0003 a0005c0027t0001 a0009c0014t0003	a0001c0001t0003g0002 a0001c0001t0003g0017 a0001c0001t0003g0031 others(13): Show a0001c0001t0003g0002 a0001c0001t0003g0017 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0134 a0001c0001t0003g0137 a0001c0001t0003g0174 a0001c0001t0009g0003 a0002c0003t0003g0187 a0002c0003t0003g0190 a0002c0003t0003g0195 a0002c0003t0003g0199 a0002c0003t0003g0228 a0005c0027t0001g0177 a0009c0014t0003g0004	17	264	0.0644	15	c.219 others(34): Show c.2199-6237_2199-6236insATCTATCTATCTATC	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	16/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47805148	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0206 a0002c0003t0004g0206	1	264	0.0038	15	c.208 others(32): Show c.208+1740_208+1754dupATTATTATTATTATT	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	2/21			chr4	TogoVar
CORO2A_chr9_98115975_98197637	98119798	G G	GTTTTTGT others(8): Show GTTTTTGTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0025 a0001c0001t0002g0026	2	342	0.0059	15	c.49 others(26): Show c.4975_*4976insAAAAAAAAACAAAAA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		1176		chr9	TogoVar
CORO2A_chr9_98115975_98197637	98119802	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	342	0.0029	15	c.49 others(26): Show c.4971_*4972insAAAAAAAAAAAAAAA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		1172		chr9	TogoVar
CORO2A_chr9_98115975_98197637	98148084	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAGAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0188 a0001c0001t0010g0188	1	342	0.0029	15	c.201 others(32): Show c.201+9361_201+9375dupTTCTTTTTTTTTTTT	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO2A_chr9_98115975_98197637	98148751	C C	CAAACAAA others(8): Show CAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00639.hp1 others(61): Show HG00558.hp1 HG00609.hp2 HG00639.hp1 HG01074.hp1 HG01109.hp2 HG01168.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01975.hp1 HG02015.hp2 HG02055.hp1 HG02109.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03486.hp1 HG03579.hp1 HG03704.hp1 HG03834.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18992.hp2 NA19000.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19068.hp2 NA19070.hp1 NA19080.hp1 NA19084.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0001t0020 a0001c0001t0032 a0001c0001t0034 a0001c0001t0037 a0001c0003t0051 a0001c0006t0027	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(59): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0129 a0001c0001t0001g0167 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0001g0292 a0001c0001t0001g0302 a0001c0001t0002g0009 a0001c0001t0002g0082 a0001c0001t0003g0006 a0001c0001t0003g0102 a0001c0001t0003g0122 a0001c0001t0003g0128 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0281 a0001c0001t0003g0286 a0001c0001t0004g0050 a0001c0001t0004g0154 a0001c0001t0004g0284 a0001c0001t0006g0309 a0001c0001t0006g0310 a0001c0001t0006g0319 a0001c0001t0006g0330 a0001c0001t0006g0331 a0001c0001t0008g0142 a0001c0001t0008g0199 a0001c0001t0008g0303 a0001c0001t0008g0304 a0001c0001t0018g0323 a0001c0001t0020g0110 a0001c0001t0032g0143 a0001c0001t0034g0159 a0001c0001t0037g0166 a0001c0003t0051g0318 a0001c0006t0027g0080	64	342	0.1871	15	c.201 others(32): Show c.201+8694_201+8708dupTGTTTTGTTTTGTTT	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO7_chr16_4349542_4421596	4395996	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02055.hp2 HG02258.hp1 others(10): Show HG01258.hp2 HG02055.hp2 HG02258.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03017.hp2 HG06807.hp2 NA18522.hp1 NA18969.hp2 NA18977.hp2 NA18997.hp2 NA19068.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0001 a0003c0003 a0004c0005 a0002c0001 a0003c0003 a0004c0005	a0002c0001t0001 a0003c0003t0001 a0004c0005t0001 a0002c0001t0001 a0003c0003t0001 a0004c0005t0001	a0002c0001t0001g0069 a0002c0001t0001g0119 a0002c0001t0001g0120 others(10): Show a0002c0001t0001g0069 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0139 a0002c0001t0001g0173 a0002c0001t0001g0183 a0002c0001t0001g0184 a0002c0001t0001g0185 a0002c0001t0001g0204 a0002c0001t0001g0232 a0003c0003t0001g0264 a0004c0005t0001g0256 a0004c0005t0001g0258	13	297	0.0438	15	c.565 others(30): Show c.565-658_565-657insCACACACACACACAC	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	6/27			chr16	TogoVar
CORO7_chr16_4349542_4421596	4400797	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp2 HG01257.hp2 others(6): Show HG00642.hp1 HG01074.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG02622.hp1 HG06807.hp1 NA18969.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 others(1): Show a0001c0002 a0001c0004 a0002c0001 a0002c0006	a0001c0002t0001 a0001c0004t0001 a0002c0001t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0002c0001t0001 a0002c0006t0001	a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0028 others(5): Show a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0028 a0001c0002t0001g0145 a0001c0004t0001g0135 a0002c0001t0001g0018 a0002c0001t0001g0132 a0002c0006t0001g0013	9	297	0.0303	15	c.564 others(32): Show c.564+4679_564+4693dupATTATTATTATTATT	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	6/27			chr16	TogoVar
COTL1_chr16_84560596_84623078	84591823	C C	CAAATAAA others(8): Show CAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(41): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG02109.hp1 HG02257.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03927.hp2 HG04228.hp2 NA18612.hp2 NA18942.hp2 NA18948.hp2 NA18959.hp1 NA18963.hp2 NA18970.hp2 NA18981.hp2 NA18983.hp2 NA18991.hp1 NA18993.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19068.hp2 NA19085.hp2 NA19090.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0025 a0001c0001t0030	a0001c0001t0001g0099 a0001c0001t0001g0113 a0001c0001t0001g0202 others(40): Show a0001c0001t0001g0099 a0001c0001t0001g0113 a0001c0001t0001g0202 a0001c0001t0001g0314 a0001c0001t0001g0346 a0001c0001t0001g0418 a0001c0001t0002g0025 a0001c0001t0002g0039 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0257 a0001c0001t0002g0275 a0001c0001t0002g0340 a0001c0001t0002g0349 a0001c0001t0002g0427 a0001c0001t0003g0084 a0001c0001t0003g0095 a0001c0001t0003g0103 a0001c0001t0003g0109 a0001c0001t0003g0124 a0001c0001t0003g0279 a0001c0001t0003g0301 a0001c0001t0003g0378 a0001c0001t0003g0410 a0001c0001t0003g0414 a0001c0001t0003g0417 a0001c0001t0004g0004 a0001c0001t0004g0040 a0001c0001t0004g0072 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0132 a0001c0001t0004g0254 a0001c0001t0004g0375 a0001c0001t0006g0014 a0001c0001t0006g0131 a0001c0001t0006g0262 a0001c0001t0006g0283 a0001c0001t0006g0319 a0001c0001t0006g0400 a0001c0001t0013g0008 a0001c0001t0025g0264 a0001c0001t0030g0432	44	440	0.1000	15	c.161 others(32): Show c.161-1576_161-1562dupTATTTTATTTTATTT	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	2/3			chr16	TogoVar
COX14_chr12_50107236_50125453	50112907	C C	CGTTATGT others(8): Show CGTTATGTTATGTTAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG01167.hp1 others(92): Show HG00438.hp2 HG00558.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01978.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02523.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp2 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18964.hp1 NA18969.hp1 NA18977.hp2 NA18981.hp2 NA18988.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19011.hp1 NA19063.hp1 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(45): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0203 a0001c0001t0002g0075 a0001c0001t0003g0204	95	418	0.2273	15	c.-9+ others(28): Show c.-9+632_-9+646dupGTTATGTTATGTTAT	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(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00733.hp1 others(14): Show HG00544.hp2 HG00609.hp2 HG00733.hp1 HG02280.hp2 HG03139.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp2 NA18955.hp2 NA18970.hp1 NA18982.hp2 NA18992.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0078 a0001c0001t0002g0033 a0001c0001t0002g0035 others(12): Show a0001c0001t0001g0078 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0185 a0001c0001t0002g0197 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0005g0285	17	376	0.0452	15	c.204 others(32): Show c.204+1087_204+1101dupAAAAAAAAAAAAAAA	COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	3/3			chr14	TogoVar
COX16_chr14_70320081_70364683	70345920	T T	TCAGCTGC others(8): Show TCAGCTGCCATCTTCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	376	0.0027	15	c.70- others(30): Show c.70-3206_70-3192dupGGAAGATGGCAGCTG	COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	1/3			chr14	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19000.hp2 NA19085.hp1 HG06807.hp1 NA19000.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0164 a0001c0001t0013g0162 a0001c0001t0013g0163 a0001c0001t0004g0164 a0001c0001t0013g0162 a0001c0001t0013g0163	3	384	0.0078	15	c.434 others(30): Show c.434+164_434+165insATATTTTTTTTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18981.hp2 NA18964.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	2	384	0.0052	15	c.434 others(30): Show c.434+164_434+165insATATATTTTTTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp1 HG01123.hp1 others(18): Show HG00544.hp1 HG00639.hp1 HG01123.hp1 HG01346.hp1 HG01433.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02451.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18949.hp2 NA18968.hp1 NA18974.hp2 NA18978.hp2 NA18990.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0033 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0033 a0001c0002t0002	a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0129 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0185 a0001c0001t0004g0043 a0001c0001t0033g0157 a0001c0002t0002g0058	21	384	0.0547	15	c.434 others(30): Show c.434+164_434+165insATATATATTTTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp2 HG01516.hp1 others(31): Show HG01099.hp1 HG01192.hp2 HG01516.hp1 HG01517.hp2 HG02040.hp1 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02615.hp2 HG02738.hp1 HG03239.hp2 HG03831.hp1 HG03927.hp1 HG04199.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18966.hp1 NA18967.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18994.hp2 NA19056.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19077.hp1 NA19084.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0031 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0031 a0001c0002t0002 a0001c0005t0012	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0059 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0059 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0179 a0001c0001t0031g0118 a0001c0002t0002g0011 a0001c0002t0002g0177 a0001c0002t0002g0183 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0005t0012g0184	34	384	0.0885	15	c.434 others(30): Show c.434+164_434+165insATATATATATTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 NA18946.hp2 HG01069.hp1 HG01071.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0014g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0014g0142	3	384	0.0078	15	c.434 others(30): Show c.434+164_434+165insATATATATATATTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0192 a0001c0002t0002g0192	1	384	0.0026	15	c.434 others(30): Show c.434+164_434+165insATATATATATATATT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	384	0.0026	15	c.434 others(30): Show c.434+164_434+165insATATATATATATATA	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46880993	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp2 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0282 a0001c0001t0003g0151 a0001c0001t0001g0282 a0001c0001t0003g0151	2	300	0.0067	15	c.-10 others(36): Show c.-105+28152_-105+28166dupTTTTTTTTTTTTTTT	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	1/2			chr4	TogoVar
CPA3_chr3_148860296_148902203	148899547	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG03139.hp1 HG03516.hp2 HG00099.hp2 HG03139.hp1 HG03516.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0007c0011t0001 a0001c0001t0001 a0007c0011t0001	a0001c0001t0001g0046 a0001c0001t0001g0169 a0007c0011t0001g0198 a0001c0001t0001g0046 a0001c0001t0001g0169 a0007c0011t0001g0198	3	400	0.0075	15	c.28 others(26): Show c.2840_*2841insAAAAAAAAAAAAAAA	CPA3	ENSG00000163751.4	transcript	ENST00000296046.4	protein_coding		2345		chr3	TogoVar
CPA4_chr7_130288161_130329180	130308723	A A	ATTTTTTT others(8): Show ATTTTTTTGTATTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0150 a0001c0001t0023g0150	1	402	0.0025	15	c.793 others(30): Show c.793+333_793+334insGTATTTTTTTTTTTT	CPA4	ENSG00000128510.12	transcript	ENST00000222482.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA4_chr7_130288161_130329180	130308850	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02896.hp1 others(3): Show HG02451.hp2 HG02615.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0014 a0001c0004t0010 a0001c0004t0014	a0001c0004t0010g0036 a0001c0004t0010g0167 a0001c0004t0010g0171 others(3): Show a0001c0004t0010g0036 a0001c0004t0010g0167 a0001c0004t0010g0171 a0001c0004t0014g0036 a0001c0004t0014g0168 a0001c0004t0014g0169	6	402	0.0149	15	c.793 others(30): Show c.793+454_793+468dupTTTTTTTTTTTTTTT	CPA4	ENSG00000128510.12	transcript	ENST00000222482.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA6_chr8_67417038_67751360	67448639	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01891.hp1 HG02109.hp1 others(6): Show HG00423.hp2 HG01891.hp1 HG02109.hp1 HG02280.hp1 HG02622.hp2 HG03471.hp2 HG03540.hp2 NA18612.hp2 NA18998.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0007 a0001c0001 a0002c0002 a0009c0007	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0009c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0051 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0051 a0001c0001t0001g0070 a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0005g0100 a0002c0002t0001g0010 a0009c0007t0001g0132	9	144	0.0625	15	c.839 others(34): Show c.839-14414_839-14400dupTTTTTTTTTTTTTTT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67472378	T T	TTATTTTA others(8): Show TTATTTTATTTTATTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	144	0.0069	15	c.838 others(34): Show c.838+11389_838+11390insGAATAAAATAAAATA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67543774	C C	CTATTATT others(8): Show CTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18981.hp2 NA19077.hp1 HG03239.hp2 NA18981.hp2 NA19077.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0135 a0002c0002t0001g0020 a0004c0005t0001g0117 a0001c0001t0001g0135 a0002c0002t0001g0020 a0004c0005t0001g0117	3	144	0.0208	15	c.193 others(34): Show c.193-25742_193-25728dupATAATAATAATAATA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67607169	C C	CTCTTCTT others(8): Show CTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0006 a0007c0010t0001g0006	1	144	0.0069	15	c.192 others(34): Show c.192+16992_192+17006dupAGAAGAAGAAGAAGA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67607172	T T	TTCTTCTT others(8): Show TTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	144	0.0069	15	c.192 others(34): Show c.192+17003_192+17004insGGAAGAAGAAGAAGA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67607251	T T	TCTTCTCC others(8): Show TCTTCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	144	0.0069	15	c.192 others(34): Show c.192+16924_192+16925insGAGGAGGAGGAGAAG	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67607251	T T	TCTTCTTC others(8): Show TCTTCTTCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	144	0.0069	15	c.192 others(34): Show c.192+16924_192+16925insGAGGAGGAGAAGAAG	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67630110	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG02976.hp1 others(4): Show HG02451.hp1 HG02615.hp2 HG02976.hp1 HG03491.hp2 HG03492.hp2 HG06807.hp2 NA18906.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0001c0001t0004 a0006c0009t0004 a0001c0001t0001 a0001c0001t0004 a0006c0009t0004	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0123 others(4): Show a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0004g0094 a0006c0009t0004g0111	7	144	0.0486	15	c.117 others(32): Show c.117-5874_117-5860dupATTATTATTATTATT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67673353	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp2 NA19060.hp2 HG02615.hp2 HG03130.hp2 NA19060.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0004 a0001c0001t0001 a0006c0009t0004	a0001c0001t0001g0050 a0001c0001t0001g0112 a0006c0009t0004g0111 a0001c0001t0001g0050 a0001c0001t0001g0112 a0006c0009t0004g0111	3	144	0.0208	15	c.117 others(34): Show c.117-49117_117-49103dupTAATAATAATAATAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67681200	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG03516.hp2 HG01891.hp2 HG02559.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0002c0002t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0002c0002t0001g0013	3	144	0.0208	15	c.117 others(34): Show c.117-56964_117-56950dupAAAAAAAAAAAAAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67733196	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0024 a0005c0004t0001g0024	1	144	0.0069	15	c.116 others(34): Show c.116+12803_116+12817dupTTTTTTTTTTTTTTT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67749788	C C	CCTGCAAG others(8): Show CCTGCAAGTCTCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	144	0.0069	15	c.-36 others(26): Show c.-3660_-3659insTGGCGAGACTTGCAG	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding		3429		chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16888395	G G	GTTTTTTT others(8): Show GTTTTTTTTTTGTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0085 a0085	a0085c0063 a0085c0063	a0085c0063t0001 a0085c0063t0001	a0085c0063t0001g0018 a0085c0063t0001g0018	1	278	0.0036	15	c.47 others(26): Show c.4712_*4713insAAAACAAAAAAAAAA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding		4555		chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16926304	C C	CTTTATTT others(8): Show CTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01168.hp1 HG01169.hp1 others(8): Show HG00735.hp2 HG01168.hp1 HG01169.hp1 HG02055.hp2 HG02559.hp2 HG02922.hp2 HG02976.hp1 HG03471.hp2 HG03516.hp2 NA18522.hp1 NA18906.hp1	a0002 a0016 a0030 others(6): Show a0002 a0016 a0030 a0035 a0045 a0062 a0076 a0093 a0110	a0002c0056 a0016c0050 a0030c0166 others(7): Show a0002c0056 a0016c0050 a0030c0166 a0030c0167 a0035c0026 a0045c0118 a0062c0069 a0076c0088 a0093c0177 a0110c0115	a0002c0056t0001 a0016c0050t0001 a0030c0166t0002 others(7): Show a0002c0056t0001 a0016c0050t0001 a0030c0166t0002 a0030c0167t0001 a0035c0026t0001 a0045c0118t0001 a0062c0069t0001 a0076c0088t0001 a0093c0177t0001 a0110c0115t0001	a0002c0056t0001g0081 a0016c0050t0001g0095 a0030c0166t0002g0059 others(8): Show a0002c0056t0001g0081 a0016c0050t0001g0095 a0030c0166t0002g0059 a0030c0167t0001g0271 a0035c0026t0001g0233 a0035c0026t0001g0234 a0045c0118t0001g0024 a0062c0069t0001g0071 a0076c0088t0001g0084 a0093c0177t0001g0072 a0110c0115t0001g0098	11	278	0.0396	15	c.337 others(32): Show c.3371-947_3371-933dupATAAAATAAAATAAA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	25/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16987177	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03130.hp2 HG03098.hp2 HG03130.hp2	a0010 a0069 a0010 a0069	a0010c0004 a0069c0098 a0010c0004 a0069c0098	a0010c0004t0001 a0069c0098t0001 a0010c0004t0001 a0069c0098t0001	a0010c0004t0001g0068 a0069c0098t0001g0065 a0010c0004t0001g0068 a0069c0098t0001g0065	2	278	0.0072	15	c.139 others(34): Show c.1395+2465_1395+2466insATATATATATATATA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16987179	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0117 a0117	a0117c0110 a0117c0110	a0117c0110t0001 a0117c0110t0001	a0117c0110t0001g0055 a0117c0110t0001g0055	1	278	0.0036	15	c.139 others(34): Show c.1395+2463_1395+2464insATATATATATATATT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16990863	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02809.hp1 HG02965.hp1 others(1): Show HG01975.hp2 HG02809.hp1 HG02965.hp1 HG03579.hp2	a0006 a0108 a0109 others(1): Show a0006 a0108 a0109 a0117	a0006c0015 a0108c0183 a0109c0184 others(1): Show a0006c0015 a0108c0183 a0109c0184 a0117c0110	a0006c0015t0002 a0108c0183t0001 a0109c0184t0001 others(1): Show a0006c0015t0002 a0108c0183t0001 a0109c0184t0001 a0117c0110t0001	a0006c0015t0002g0110 a0108c0183t0001g0056 a0109c0184t0001g0057 others(1): Show a0006c0015t0002g0110 a0108c0183t0001g0056 a0109c0184t0001g0057 a0117c0110t0001g0055	4	278	0.0144	15	c.126 others(34): Show c.1267-1107_1267-1093dupTTTTTTTTTTTTTTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	12/41			chr19	TogoVar

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