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 per page.

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
CETN1_chr18_575380_587114	579661	TCTTGATT others(29): Show TCTTGATTATCCTAAATTTACCCTTAGGACCTGTCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0000 a0001c0001t0026g0000	1	422	0.0024	-36	c.-74 others(45): Show c.-747_-712delCTTGATTATCCTAAATTTACCCTTAGGACCTGTCAC	CETN1	ENSG00000177143.5	transcript	ENST00000327228.5	protein_coding		718		chr18	TogoVar
CETP_chr16_56956950_56988845	56959938	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00438.hp1 others(120): Show HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18966.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18988.hp2 NA18991.hp2 NA19030.hp1 NA19055.hp1 NA19063.hp1 NA19068.hp2 NA19070.hp2 NA19080.hp1 NA19083.hp2 NA19086.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0012	a0001c0001 a0001c0010 a0002c0002 others(10): Show a0001c0001 a0001c0010 a0002c0002 a0002c0003 a0002c0005 a0002c0009 a0002c0014 a0003c0004 a0004c0007 a0005c0008 a0008c0013 a0010c0027 a0012c0021	a0001c0001t0001 a0001c0010t0001 a0002c0002t0001 others(10): Show a0001c0001t0001 a0001c0010t0001 a0002c0002t0001 a0002c0003t0002 a0002c0005t0001 a0002c0009t0001 a0002c0014t0001 a0003c0004t0001 a0004c0007t0001 a0005c0008t0001 a0008c0013t0001 a0010c0027t0001 a0012c0021t0001	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0038 others(85): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0010t0001g0211 a0001c0010t0001g0215 a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0014 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0028 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0086 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0103 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0117 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0134 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0166 a0002c0002t0001g0174 a0002c0002t0001g0180 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0193 a0002c0002t0001g0248 a0002c0003t0002g0048 a0002c0003t0002g0083 a0002c0003t0002g0084 a0002c0005t0001g0210 a0002c0009t0001g0090 a0002c0009t0001g0091 a0002c0009t0001g0154 a0002c0014t0001g0098 a0002c0014t0001g0099 a0003c0004t0001g0045 a0003c0004t0001g0164 a0004c0007t0001g0026 a0004c0007t0001g0169 a0004c0007t0001g0170 a0004c0007t0001g0171 a0005c0008t0001g0040 a0008c0013t0001g0167 a0008c0013t0001g0168 a0008c0013t0001g0172 a0010c0027t0001g0142 a0012c0021t0001g0095	123	462	0.2662	-36	c.-20 others(47): Show c.-2041_-2006delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	CETP	ENSG00000087237.12	transcript	ENST00000200676.8	protein_coding		2011		chr16	TogoVar
CFAP141_chr1_154194085_154211333	154203172	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG04115.hp2 HG01257.hp2 HG01258.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	3	372	0.0081	-36	c.74+ others(51): Show c.74+2390_74+2425delATATATATATATATATATATATATATATAT ATATAT	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3			chr1	TogoVar
CFAP144_chr1_43142904_43161396	43154379	TACATATA others(29): Show TACATATACACACACATATATGTATACATATATACGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(147): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18947.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19070.hp1 NA19078.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 others(51): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0003t0001g0043 a0001c0003t0001g0078	150	396	0.3788	-36	c.297 others(53): Show c.297+1487_297+1522delATATACACACACATATATGTATACATAT ATACGCAC	CFAP144	ENSG00000186973.11	transcript	ENST00000335282.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP161_chr15_81129270_81154179	81146831	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02155.hp2 NA18747.hp1 others(5): Show HG02040.hp1 HG02155.hp2 NA18747.hp1 NA18943.hp1 NA18956.hp1 NA18981.hp2 NA18982.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0139 a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0139	8	448	0.0179	-36	c.637 others(52): Show c.637-1010_637-975delATATATATATATATATATATATATATATA TATATAT	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
CFAP210_chr2_169640425_169699405	169653032	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03486.hp2 HG03195.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	390	0.0051	-36	c.959 others(53): Show c.959+1007_959+1042delCATATATATATATATATATATATATATA TATATATA	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	6/8			chr2	TogoVar
CFAP221_chr2_119539449_119661661	119552653	ATTTCTTT others(29): Show ATTTCTTTCTTTAATAAGAAATAAATAGAAATATTTC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0058 a0003c0003t0002g0058	1	226	0.0044	-36	c.240 others(53): Show c.240+3476_240+3511delCTTTAATAAGAAATAAATAGAAATATTT CTTTCTTT	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP251_chr12_121913592_122008919	121998432	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(109): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02698.hp1 HG02735.hp2 HG03017.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18969.hp1 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18985.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp2 NA19002.hp2 NA19011.hp2 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19091.hp1 NA20805.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0008 a0010	a0001c0001 a0001c0021 a0002c0004 others(3): Show a0001c0001 a0001c0021 a0002c0004 a0006c0006 a0008c0010 a0010c0022	a0001c0001t0001 a0001c0021t0001 a0002c0004t0001 others(3): Show a0001c0001t0001 a0001c0021t0001 a0002c0004t0001 a0006c0006t0001 a0008c0010t0001 a0010c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0111 a0001c0001t0001g0112 others(108): Show a0001c0001t0001g0001 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0021t0001g0202 a0002c0004t0001g0301 a0006c0006t0001g0262 a0008c0010t0001g0217 a0008c0010t0001g0329 a0010c0022t0001g0115	112	354	0.3164	-36	c.300 others(55): Show c.3007-1263_3007-1228delATATATATATATATATATATATATAT ATATATATAT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP299_chr4_80330730_80968750	80782576	GAATATAT others(29): Show GAATATATAATATATTCATATATAATATACATATATT	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0084 a0001c0003t0002g0084	1	96	0.0104	-36	c.334 others(55): Show c.334-87381_334-87346delTAATATATAATATATTCATATATAAT ATACATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80782612	TAATATAT others(29): Show TAATATATAATATATTCATATATAATATACATATATG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00597.hp2 others(28): Show HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG01168.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02647.hp2 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA18950.hp1 NA18957.hp2 NA18983.hp2 NA18998.hp1 NA19005.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0002c0006	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0002c0002t0001 a0002c0005t0001 a0002c0006t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0039 others(28): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0003t0001g0038 a0001c0003t0002g0090 a0001c0003t0002g0091 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0094 a0001c0004t0001g0095 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0026 a0002c0002t0001g0046 a0002c0005t0001g0058 a0002c0005t0001g0070 a0002c0005t0001g0071 a0002c0005t0001g0076 a0002c0006t0001g0034 a0002c0006t0001g0082	31	96	0.3229	-36	c.334 others(55): Show c.334-87291_334-87256delTATATAATATACATATATGAATATAT AATATATTCA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80782707	AATATACA others(29): Show AATATACATATATGAATATATAATATATTCACATATG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03139.hp2 HG02965.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0002 a0002c0006t0001 a0001c0003t0002 a0002c0006t0001	a0001c0003t0002g0092 a0002c0006t0001g0088 a0001c0003t0002g0092 a0002c0006t0001g0088	2	96	0.0208	-36	c.334 others(55): Show c.334-87285_334-87250delATATACATATATGAATATATAATATA TTCACATATG	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5			chr4	TogoVar
CFAP299_chr4_80330730_80968750	80799111	GTAAATAT others(29): Show GTAAATATATTTATACAATATTTATATATATATTATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG02040.hp1 others(8): Show HG00408.hp2 HG00642.hp1 HG02040.hp1 HG02071.hp2 HG02523.hp2 NA18963.hp1 NA18964.hp1 NA18984.hp1 NA19060.hp1 NA19085.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0012	11	96	0.1146	-36	c.334 others(55): Show c.334-70851_334-70816delATTATATAAATATATTTATACAATAT TTATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP46_chr10_132803392_132947570	132887205	CTTTCCTC others(29): Show CTTTCCTCTCCCCTCTTCTCTCTCTCCTCTCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02559.hp1 others(2): Show HG01884.hp1 HG02145.hp2 HG02559.hp1 HG03130.hp1 HG03453.hp2	a0005 a0012 a0072 a0005 a0012 a0072	a0005c0013 a0012c0076 a0072c0075 a0005c0013 a0012c0076 a0072c0075	a0005c0013t0001 a0012c0076t0001 a0072c0075t0001 a0005c0013t0001 a0012c0076t0001 a0072c0075t0001	a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0013t0001g0219 others(2): Show a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0013t0001g0219 a0012c0076t0001g0131 a0072c0075t0001g0235	5	246	0.0203	-36	c.330 others(55): Show c.3305-1282_3305-1247delAGAGGGGAGAGGAGAGAGAGAAGAGG GGAGAGGAAA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132895943	ATGAGACA others(29): Show ATGAGACACGGCGAGAAGGCAGCTAGGCTCTGTGTGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(59): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00738.hp2 HG01099.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp2 HG03017.hp2 HG03490.hp2 HG03491.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18953.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18983.hp2 NA19007.hp2 NA19056.hp2 NA19060.hp2 NA19067.hp1 NA20805.hp1 NA20905.hp1	a0002 a0003 a0004 others(12): Show a0002 a0003 a0004 a0016 a0022 a0025 a0030 a0031 a0036 a0040 a0041 a0044 a0047 a0053 a0068	a0002c0002 a0002c0003 a0002c0023 others(19): Show a0002c0002 a0002c0003 a0002c0023 a0002c0054 a0003c0012 a0003c0080 a0004c0019 a0004c0038 a0004c0052 a0016c0031 a0016c0095 a0022c0042 a0025c0033 a0030c0066 a0031c0065 a0036c0051 a0040c0050 a0041c0049 a0044c0055 a0047c0035 a0053c0068 a0068c0071	a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 others(20): Show a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 a0002c0054t0001 a0003c0012t0002 a0003c0080t0002 a0004c0019t0001 a0004c0038t0001 a0004c0052t0001 a0016c0031t0002 a0016c0095t0002 a0022c0042t0001 a0025c0033t0001 a0025c0033t0003 a0030c0066t0001 a0031c0065t0001 a0036c0051t0001 a0040c0050t0001 a0041c0049t0001 a0044c0055t0001 a0047c0035t0001 a0053c0068t0002 a0068c0071t0002	a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 others(59): Show a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0229 a0002c0003t0001g0128 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0145 a0002c0003t0001g0162 a0002c0003t0001g0181 a0002c0003t0001g0192 a0002c0003t0001g0196 a0002c0023t0001g0151 a0002c0023t0001g0204 a0002c0054t0001g0164 a0003c0012t0002g0055 a0003c0012t0002g0087 a0003c0080t0002g0074 a0004c0019t0001g0179 a0004c0019t0001g0233 a0004c0038t0001g0146 a0004c0052t0001g0188 a0016c0031t0002g0030 a0016c0031t0002g0072 a0016c0095t0002g0114 a0022c0042t0001g0166 a0025c0033t0001g0238 a0025c0033t0003g0237 a0030c0066t0001g0231 a0031c0065t0001g0232 a0036c0051t0001g0180 a0040c0050t0001g0178 a0041c0049t0001g0176 a0044c0055t0001g0183 a0047c0035t0001g0161 a0053c0068t0002g0012 a0068c0071t0002g0003	62	246	0.2520	-36	c.321 others(55): Show c.3219+2980_3219+3015delGCACACAGAGCCTAGCTGCCTTCTCG CCGTGTCTCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	24/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132896183	ATGAGACA others(29): Show ATGAGACACGGCGAGAAGGCAGCTAGGCTCTGTGTGC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18522.hp1 HG02615.hp2 NA18522.hp1	a0022 a0068 a0022 a0068	a0022c0042 a0068c0071 a0022c0042 a0068c0071	a0022c0042t0001 a0068c0071t0002 a0022c0042t0001 a0068c0071t0002	a0022c0042t0001g0166 a0068c0071t0002g0003 a0022c0042t0001g0166 a0068c0071t0002g0003	2	246	0.0081	-36	c.321 others(55): Show c.3219+2740_3219+2775delGCACACAGAGCCTAGCTGCCTTCTCG CCGTGTCTCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	24/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132917958	CTCTCCAC others(29): Show CTCTCCACGACGCACCTCAGCACCGATGAACCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA19060.hp2 HG04228.hp1 NA19060.hp2	a0052 a0053 a0052 a0053	a0052c0067 a0053c0068 a0052c0067 a0053c0068	a0052c0067t0002 a0053c0068t0002 a0052c0067t0002 a0053c0068t0002	a0052c0067t0002g0013 a0053c0068t0002g0012 a0052c0067t0002g0013 a0053c0068t0002g0012	2	246	0.0081	-36	c.198 others(53): Show c.1986+399_1986+434delAGGGGGGTTCATCGGTGCTGAGGTGCGT CGTGGAGA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	16/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132927297	ACGTCCCG others(29): Show ACGTCCCGGGGAGCAGGTCCTCGGCGGCAGACGCCTC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01123.hp1 others(4): Show HG00741.hp1 HG01069.hp1 HG01123.hp1 HG02145.hp1 HG02895.hp1 HG03209.hp1 NA18939.hp2	a0007 a0018 a0032 others(3): Show a0007 a0018 a0032 a0046 a0048 a0049	a0007c0083 a0018c0024 a0032c0063 others(3): Show a0007c0083 a0018c0024 a0032c0063 a0046c0064 a0048c0107 a0049c0106	a0007c0083t0002 a0018c0024t0001 a0032c0063t0001 others(3): Show a0007c0083t0002 a0018c0024t0001 a0032c0063t0001 a0046c0064t0001 a0048c0107t0002 a0049c0106t0002	a0007c0083t0002g0085 a0018c0024t0001g0211 a0018c0024t0001g0212 others(4): Show a0007c0083t0002g0085 a0018c0024t0001g0211 a0018c0024t0001g0212 a0032c0063t0001g0213 a0046c0064t0001g0214 a0048c0107t0002g0103 a0049c0106t0002g0102	7	246	0.0285	-36	c.967 others(51): Show c.967-667_967-632delGAGGCGTCTGCCGCCGAGGACCTGCTCCCC GGGACG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	9/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132935309	CGATCTTC others(29): Show CGATCTTCTCATTCCCCTCAGCACCCAAACCCACTGT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0052 a0052	a0052c0067 a0052c0067	a0052c0067t0002 a0052c0067t0002	a0052c0067t0002g0013 a0052c0067t0002g0013	1	246	0.0041	-36	c.756 others(51): Show c.756-483_756-448delACAGTGGGTTTGGGTGCTGAGGGGAATGAG AAGATC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	7/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132935919	TGATCTCC others(29): Show TGATCTCCTCACTCCCCTCGGCACCCAAACACACTGC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0054 a0054	a0054c0091 a0054c0091	a0054c0091t0002 a0054c0091t0002	a0054c0091t0002g0026 a0054c0091t0002g0026	1	246	0.0041	-36	c.755 others(53): Show c.755+1006_755+1041delGCAGTGTGTTTGGGTGCCGAGGGGAGTG AGGAGATC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	7/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132936545	AGCCCCCA others(29): Show AGCCCCCAAATACACTGTGATCTCCTCACTCCCCTCT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0072 a0072	a0072c0075 a0072c0075	a0072c0075t0001 a0072c0075t0001	a0072c0075t0001g0235 a0072c0075t0001g0235	1	246	0.0041	-36	c.755 others(51): Show c.755+380_755+415delAGAGGGGAGTGAGGAGATCACAGTGTATTT GGGGGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	7/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132936616	TGGCATCC others(29): Show TGGCATCCAAACACACCATGATCTCCTCACTCCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01169.hp1 HG02145.hp1 others(3): Show HG01069.hp1 HG01169.hp1 HG02145.hp1 HG02486.hp2 HG03017.hp1 HG03669.hp1	a0025 a0048 a0049 others(2): Show a0025 a0048 a0049 a0050 a0051	a0025c0033 a0048c0107 a0049c0106 others(2): Show a0025c0033 a0048c0107 a0049c0106 a0050c0104 a0051c0105	a0025c0033t0001 a0025c0033t0003 a0048c0107t0002 others(3): Show a0025c0033t0001 a0025c0033t0003 a0048c0107t0002 a0049c0106t0002 a0050c0104t0001 a0051c0105t0001	a0025c0033t0001g0238 a0025c0033t0003g0237 a0048c0107t0002g0103 others(3): Show a0025c0033t0001g0238 a0025c0033t0003g0237 a0048c0107t0002g0103 a0049c0106t0002g0102 a0050c0104t0001g0236 a0051c0105t0001g0239	6	246	0.0244	-36	c.755 others(51): Show c.755+309_755+344delGAGGGGAGTGAGGAGATCATGGTGTGTTTG GATGCC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	7/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35923913	ATATATGT others(29): Show ATATATGTACATATATATGTGTATATATGTACATGTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03195.hp2 HG03579.hp1 others(1): Show HG02258.hp1 HG03195.hp2 HG03579.hp1 NA20129.hp2	a0005 a0012 a0005 a0012	a0005c0015 a0012c0010 a0005c0015 a0012c0010	a0005c0015t0001 a0012c0010t0001 a0005c0015t0001 a0012c0010t0001	a0005c0015t0001g0131 a0012c0010t0001g0130 a0012c0010t0001g0132 others(1): Show a0005c0015t0001g0131 a0012c0010t0001g0130 a0012c0010t0001g0132 a0012c0010t0001g0133	4	216	0.0185	-36	c.250 others(53): Show c.250-2098_250-2063delGTACATATATATGTGTATATATGTACAT GTGTATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36191766	CTGAGGTC others(29): Show CTGAGGTCAGGAGTTTGAGACCACCCTGGCCACATGG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02976.hp1 HG02559.hp2 HG02976.hp1	a0021 a0021	a0021c0021 a0021c0021	a0021c0021t0001 a0021c0021t0001	a0021c0021t0001g0209 a0021c0021t0001g0210 a0021c0021t0001g0209 a0021c0021t0001g0210	2	216	0.0093	-36	c.632 others(55): Show c.6321+1574_6321+1609delGGTCAGGAGTTTGAGACCACCCTGGC CACATGGTGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	42/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP54_chr12_96484577_96880555	96664735	ATATCTAT others(29): Show ATATCTATATATATATATATCTATATATATCTATATC	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0048 a0048	a0048c0061 a0048c0061	a0048c0061t0001 a0048c0061t0001	a0048c0061t0001g0017 a0048c0061t0001g0017	1	268	0.0037	-36	c.556 others(53): Show c.5563+807_5563+842delCTATATATATATATATCTATATATATCT ATATCTAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827633	ATGTGTAA others(29): Show ATGTGTAATATGATACATAGTAATATATTATATTATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0059 a0059	a0059c0060 a0059c0060	a0059c0060t0001 a0059c0060t0001	a0059c0060t0001g0005 a0059c0060t0001g0005	1	268	0.0037	-36	c.909 others(55): Show c.9097-1379_9097-1344delGTGTAATATGATACATAGTAATATAT TATATTATGT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP58_chr10_104348833_104460102	104396369	TGAGAGAG others(29): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00733.hp2 HG00735.hp2 others(25): Show HG00609.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01516.hp1 HG01517.hp1 HG02155.hp1 HG02280.hp2 HG02559.hp1 HG02683.hp1 HG03139.hp2 HG03486.hp1 HG03710.hp1 HG04115.hp1 NA18612.hp2 NA18973.hp1 NA18974.hp1 NA18979.hp1 NA18981.hp1 NA18985.hp2 NA18994.hp1 NA19007.hp1 NA19057.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0003 a0006c0014 others(1): Show a0001c0001 a0001c0003 a0006c0014 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0006c0014t0001 a0007c0010t0001	a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0034 others(25): Show a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0086 a0001c0001t0001g0118 a0001c0001t0001g0157 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0249 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0002g0283 a0001c0003t0002g0011 a0001c0003t0002g0122 a0006c0014t0001g0152 a0007c0010t0001g0107 a0007c0010t0001g0170	28	308	0.0909	-36	c.167 others(55): Show c.1674+2929_1675-2921delGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP61_chr20_20047532_20365698	20356554	GGGGAGGT others(29): Show GGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0017 a0002c0004t0004g0017	1	236	0.0042	-36	c.351 others(55): Show c.3514-3655_3514-3620delGGGAGGTGGTCATAGTGTGAGGGGAG GTGGTCACAC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356708	GGGGAGGT others(29): Show GGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACAC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0202 a0001c0003t0001g0202	1	236	0.0042	-36	c.351 others(55): Show c.3514-3501_3514-3466delGGGAGGTGGTCACACTGTGAGGGGAG GTGGTCACAC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CFAP70_chr10_73248762_73363864	73284737	CACATATA others(29): Show CACATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0021 a0002c0013t0001g0021	1	220	0.0046	-36	c.245 others(55): Show c.2450-6436_2450-6401delATATATATATATATATATATATATAT ATATATATGT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27			chr10	TogoVar
CFAP70_chr10_73248762_73363864	73284739	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0029 a0007c0010t0001g0029	1	220	0.0046	-36	c.245 others(55): Show c.2450-6438_2450-6403delATATATATATATATATATATATATAT ATATATATAT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27			chr10	TogoVar
CFAP77_chr9_132405211_132578319	132486030	ATATATAT others(29): Show ATATATATATATGTATGTATATGTATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01256.hp2 HG01891.hp1 others(16): Show HG01175.hp1 HG01256.hp2 HG01891.hp1 HG02109.hp2 HG02132.hp1 HG02738.hp2 HG02809.hp1 HG03139.hp2 HG03486.hp1 NA18612.hp2 NA18951.hp2 NA18952.hp2 NA18957.hp2 NA18961.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19077.hp2 NA19084.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0008c0013t0001	a0001c0001t0001g0088 a0001c0001t0001g0131 a0001c0001t0001g0133 others(16): Show a0001c0001t0001g0088 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0294 a0001c0001t0002g0027 a0001c0002t0001g0002 a0001c0002t0002g0017 a0001c0002t0002g0243 a0002c0003t0001g0062 a0002c0003t0001g0067 a0002c0003t0001g0084 a0002c0003t0001g0114 a0002c0003t0001g0238 a0002c0003t0001g0310 a0002c0003t0002g0040 a0002c0003t0002g0055 a0008c0013t0001g0172	19	322	0.0590	-36	c.196 others(55): Show c.196-12653_196-12618delGTATGTATATGTATGTGTGTGTGTGT ATATATATAT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843557	CCTTCTTC others(29): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0373 a0001c0001t0001g0373	1	380	0.0026	-36	c.153 others(51): Show c.153-922_153-887delTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFH_chr1_196647043_196752504	196692746	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	308	0.0033	-36	c.133 others(55): Show c.1336+2549_1336+2584delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CGN_chr1_151506387_151543692	151539954	GAAGGAAG others(29): Show GAAGGAAGCTTTTGCAGGTTCCAACTCCTCATCCACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG01081.hp2 others(23): Show HG00280.hp1 HG00438.hp1 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01261.hp1 HG01517.hp1 HG02155.hp2 HG02451.hp1 HG02896.hp1 HG02897.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 NA18939.hp1 NA18948.hp2 NA18985.hp2 NA18992.hp1 NA19057.hp2 NA19070.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0009 a0016 others(2): Show a0001 a0009 a0016 a0017 a0027	a0001c0001 a0001c0025 a0009c0012 others(3): Show a0001c0001 a0001c0025 a0009c0012 a0016c0035 a0017c0033 a0027c0027	a0001c0001t0001 a0001c0001t0013 a0001c0025t0001 others(4): Show a0001c0001t0001 a0001c0001t0013 a0001c0025t0001 a0009c0012t0005 a0016c0035t0007 a0017c0033t0001 a0027c0027t0001	a0001c0001t0001g0007 a0001c0001t0001g0042 a0001c0001t0001g0049 others(16): Show a0001c0001t0001g0007 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0225 a0001c0001t0001g0252 a0001c0001t0013g0047 a0001c0001t0013g0218 a0001c0025t0001g0007 a0009c0012t0005g0027 a0016c0035t0007g0265 a0017c0033t0001g0107 a0027c0027t0001g0253	26	382	0.0681	-36	c.26 others(47): Show c.2609_*2644delAAGGAAGCTTTTGCAGGTTCCAACTCCTCATCCA CT	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding		1263		chr1	TogoVar
CHAMP1_chr13_114309503_114332322	114328141	GCCTGGTG others(29): Show GCCTGGTGAGAAGTGATTGGATCATGGGGGTGGACTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0003 a0001c0012t0001g0003	1	414	0.0024	-36	c.18 others(47): Show c.1861_*1896delCCTGGTGAGAAGTGATTGGATCATGGGGGTGGAC TT	CHAMP1	ENSG00000198824.8	transcript	ENST00000361283.4	protein_coding		820		chr13	TogoVar
CHCHD6_chr3_126699240_126965420	126863326	TCCTCCTC others(29): Show TCCTCCTCCTCCATCACCTCCTCCTCCTCTACCATCA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	216	0.0046	-36	c.495 others(55): Show c.495+10599_495+10634delTCCTCCTCCATCACCTCCTCCTCCTC TACCATCACC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHGB_chr20_5906510_5930353	5926064	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18950.hp2 NA18948.hp1 NA18950.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0006 a0003c0003t0002g0125 a0003c0003t0002g0006 a0003c0003t0002g0125	2	440	0.0046	-36	c.10 others(47): Show c.1016_*1051delAAAAATATATATATATATATATATATATATATAT AT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		712		chr20	TogoVar
CHIA_chr1_111285851_111325563	111320533	AAGTCCTG others(29): Show AAGTCCTGCAATAAAATCAGCAGTCAAAACATGACTG	A A	splice_region_variant splice_region_variant	LOW	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0048 a0002c0002t0008g0048	1	426	0.0024	-36	c.68 others(44): Show c.68_*103delAGTCCTGCAATAAAATCAGCAGTCAAAACATGACTG	CHIA	ENSG00000134216.19	transcript	ENST00000369740.6	protein_coding	12/12			chr1	TogoVar
CHMP2B_chr3_87222309_87260556	87258662	GAGACTGG others(29): Show GAGACTGGACAGTATAATTTATTTAGTAAGCATTCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	414	0.0024	-36	c.48 others(47): Show c.4841_*4876delAGACTGGACAGTATAATTTATTTAGTAAGCATTC TA	CHMP2B	ENSG00000083937.10	transcript	ENST00000263780.9	protein_coding		3107		chr3	TogoVar
CHMP3_chr2_86498430_86568443	86548890	AGCCGGGC others(29): Show AGCCGGGCAGAGGTGCTCCCCACCTCCCAGATGATGG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0211 a0001c0001t0009g0211	1	336	0.0030	-36	c.46- others(51): Show c.46-6614_46-6579delCCATCATCTGGGAGGTGGGGAGCACCTCTG CCCGGC	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5			chr2	TogoVar
CHODL_chr21_18239833_18272370	18254259	CAGGAATA others(29): Show CAGGAATAATGTTAATGGAGATGAATTGTAAGAAAGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02615.hp2 others(5): Show HG02145.hp1 HG02451.hp2 HG02615.hp2 HG02647.hp1 HG02809.hp1 HG03130.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0019 others(1): Show a0001c0001t0005 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020	a0001c0001t0005g0047 a0001c0001t0005g0288 a0001c0001t0005g0291 others(4): Show a0001c0001t0005g0047 a0001c0001t0005g0288 a0001c0001t0005g0291 a0001c0001t0005g0293 a0001c0001t0012g0290 a0001c0001t0019g0289 a0001c0001t0020g0292	8	402	0.0199	-36	c.80- others(51): Show c.80-2247_80-2212delGAATAATGTTAATGGAGATGAATTGTAAGA AAGTAG	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHRDL1_chrX_110668856_110800817	110669052	TTATATAT others(29): Show TTATATATATATATATTTATATATATATTTATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0050 a0004c0005t0050	a0004c0005t0050g0072 a0004c0005t0050g0072	1	172	0.0058	-36	c.71 others(47): Show c.7143_*7178delTATATATAAATATATATATAAATATATATATATA TA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding		4803		chrX	TogoVar
CHRM2_chr7_136863652_137025213	137003473	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	320	0.0031	-36	c.-47 others(55): Show c.-47+11238_-47+11273delACACACACACACACACACACACACAC ACACACACAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239404388	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0053 a0001c0001t0005g0053	1	116	0.0086	-36	c.-52 others(57): Show c.-521+17163_-521+17198delAAGAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239404400	GAAAGAAA others(29): Show GAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG06807.hp1 NA20129.hp1 HG03098.hp1 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0042 a0001c0001t0003 a0001c0001t0021 a0001c0001t0042	a0001c0001t0003g0092 a0001c0001t0021g0093 a0001c0001t0042g0080 a0001c0001t0003g0092 a0001c0001t0021g0093 a0001c0001t0042g0080	3	116	0.0259	-36	c.-52 others(57): Show c.-521+17175_-521+17210delAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGAAA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239404406	AAGAAAAA others(29): Show AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0073	1	116	0.0086	-36	c.-52 others(57): Show c.-521+17181_-521+17216delGAAAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239688682	GCAATATA others(29): Show GCAATATAATATATAATATTATATATAATACATTATT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0089 a0001c0001t0034g0089	1	116	0.0086	-36	c.-14 others(57): Show c.-147+10448_-147+10483delTTATATATAATACATTATTCAATA TAATATATAATA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA4_chr20_63338223_63366349	63358935	CCTGGTTC others(29): Show CCTGGTTCCTATCCTGCCTTGGGGCTCCATGTGCACT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	168	0.0060	-36	c.228 others(51): Show c.228+577_228+612delAGTGCACATGGAGCCCCAAGGCAGGATAGG AACCAG	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	2/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361321	GGCGCGGC others(29): Show GGCGCGGCAGGGAGCGCCGGGCTGTGGGCTCCGTGGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0015 a0000c0006t0015	a0000c0006t0015g0032 a0000c0006t0015g0032	1	168	0.0060	-36	c.-19 others(45): Show c.-192_-157delGCCACGGAGCCCACAGCCCGGCGCTCCCTGCCGCGC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	1/6	157		chr20	TogoVar
CHRNB1_chr17_7440061_7462710	7446303	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	368	0.0027	-36	c.243 others(51): Show c.243+214_243+249delCTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	CHRNB1	ENSG00000170175.11	transcript	ENST00000306071.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar

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