Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CFAP70_chr10_73248762_73363864	73316471	TATATATA others(9): Show TATATATATAGATATAG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0014 a0003c0003t0002g0014	1	220	0.0046	-16	c.112 others(35): Show c.1123-3844_1123-3829delCTATATCTATATATAT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	10/27			chr10	TogoVar
CFAP70_chr10_73248762_73363864	73351067	GTGTGTAT others(9): Show GTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0016 a0002c0006t0001g0016	1	220	0.0046	-16	c.250 others(33): Show c.250+2473_250+2488delTATATATATATACACA	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	3/27			chr10	TogoVar
CFAP70_chr10_73248762_73363864	73351071	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01884.hp2 HG02451.hp2 others(6): Show HG00642.hp2 HG01884.hp2 HG02451.hp2 HG02818.hp1 HG02965.hp2 HG03453.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0008 a0012	a0002c0002 a0002c0013 a0003c0003 others(3): Show a0002c0002 a0002c0013 a0003c0003 a0004c0004 a0008c0012 a0012c0007	a0002c0002t0001 a0002c0013t0001 a0003c0003t0002 others(3): Show a0002c0002t0001 a0002c0013t0001 a0003c0003t0002 a0004c0004t0001 a0008c0012t0001 a0012c0007t0002	a0002c0002t0001g0022 a0002c0013t0001g0021 a0003c0003t0002g0004 others(6): Show a0002c0002t0001g0022 a0002c0013t0001g0021 a0003c0003t0002g0004 a0003c0003t0002g0005 a0003c0003t0002g0006 a0003c0003t0002g0007 a0004c0004t0001g0017 a0008c0012t0001g0023 a0012c0007t0002g0015	9	220	0.0409	-16	c.250 others(33): Show c.250+2469_250+2484delTATATATATATATATA	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	3/27			chr10	TogoVar
CFAP74_chr1_1916957_2008786	2000093	GGTGGAGG others(9): Show GGTGGAGGTTGCAGTGA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0023 a0013c0018t0001g0023	1	278	0.0036	-16	c.-20 others(33): Show c.-20+3592_-20+3607delTCACTGCAACCTCCAC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	1/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	2005912	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02647.hp1 HG00642.hp2 HG02647.hp1	a0002 a0005 a0002 a0005	a0002c0005 a0005c0007 a0002c0005 a0005c0007	a0002c0005t0002 a0005c0007t0001 a0002c0005t0002 a0005c0007t0001	a0002c0005t0002g0017 a0005c0007t0001g0200 a0002c0005t0002g0017 a0005c0007t0001g0200	2	278	0.0072	-16	c.-22 others(27): Show c.-2247_-2232delACGAGAGAGAGAGAGA	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding		2127		chr1	TogoVar
CFAP77_chr9_132405211_132578319	132485985	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA21309.hp2 HG00544.hp1 NA21309.hp2	a0002 a0009 a0002 a0009	a0002c0003 a0009c0012 a0002c0003 a0009c0012	a0002c0003t0002 a0009c0012t0002 a0002c0003t0002 a0009c0012t0002	a0002c0003t0002g0299 a0009c0012t0002g0187 a0002c0003t0002g0299 a0009c0012t0002g0187	2	322	0.0062	-16	c.196 others(35): Show c.196-12669_196-12654delATATATATATATATAT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132486026	ATATATAT others(9): Show ATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	322	0.0031	-16	c.196 others(35): Show c.196-12665_196-12650delATATATATATATGTAT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132519812	GTGGATGG others(9): Show GTGGATGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp2 HG02809.hp1 others(2): Show HG01891.hp2 HG02615.hp2 HG02809.hp1 HG03041.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0153 a0001c0001t0001g0225 a0002c0003t0002g0040 others(2): Show a0001c0001t0001g0153 a0001c0001t0001g0225 a0002c0003t0002g0040 a0002c0003t0002g0055 a0002c0003t0002g0232	5	322	0.0155	-16	c.525 others(35): Show c.525-17769_525-17754delATGGATGGATGGATGG	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132554939	CCCATCCA others(9): Show CCCATCCATCCATCCAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01891.hp1 HG01943.hp2 others(15): Show HG01167.hp2 HG01891.hp1 HG01943.hp2 HG02055.hp2 HG02145.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03540.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0016 a0004c0009 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0004t0001 a0001c0016t0001 a0004c0009t0001 a0008c0013t0001	a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0153 others(15): Show a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0196 a0001c0001t0001g0225 a0001c0001t0001g0273 a0001c0001t0002g0189 a0001c0001t0003g0135 a0001c0001t0003g0282 a0001c0002t0003g0149 a0001c0002t0003g0171 a0001c0004t0001g0167 a0001c0004t0001g0191 a0001c0004t0001g0270 a0001c0016t0001g0143 a0004c0009t0001g0247 a0004c0009t0001g0261 a0008c0013t0001g0172	18	322	0.0559	-16	c.732 others(35): Show c.732+11927_732+11942delATCCATCCATCCATCC	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132561604	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	322	0.0031	-16	c.733 others(35): Show c.733-10741_733-10726delACACACACACACACAC	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132561647	ACACACAC others(9): Show ACACACACACACACACC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19030.hp1 HG01884.hp1 NA19030.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0015 a0001c0001 a0007c0015	a0001c0001t0001 a0007c0015t0002 a0001c0001t0001 a0007c0015t0002	a0001c0001t0001g0294 a0007c0015t0002g0214 a0001c0001t0001g0294 a0007c0015t0002g0214	2	322	0.0062	-16	c.733 others(35): Show c.733-10739_733-10724delACACACACACACACCC	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP90_chr5_7825378_7856133	7850785	TGCCCAGC others(9): Show TGCCCAGCCGCCCAGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(128): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03942.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18983.hp2 NA18984.hp2 NA18993.hp1 NA18999.hp1 NA19001.hp1 NA19004.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19086.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0005 a0001c0011 others(4): Show a0001c0001 a0001c0005 a0001c0011 a0002c0002 a0003c0003 a0004c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0005t0006 a0001c0011t0018 a0002c0002t0001 a0003c0003t0001 a0004c0004t0005 a0005c0006t0008	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0036 others(50): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0041 a0001c0001t0002g0084 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0010g0082 a0001c0001t0010g0092 a0001c0001t0010g0097 a0001c0001t0013g0088 a0001c0001t0013g0105 a0001c0001t0017g0060 a0001c0001t0020g0098 a0001c0001t0021g0093 a0001c0005t0006g0074 a0001c0011t0018g0103 a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0079 a0002c0002t0001g0104 a0003c0003t0001g0003 a0003c0003t0001g0083 a0003c0003t0001g0091 a0004c0004t0005g0022 a0004c0004t0005g0033 a0004c0004t0005g0034 a0004c0004t0005g0035 a0004c0004t0005g0075 a0004c0004t0005g0077 a0004c0004t0005g0078 a0005c0006t0008g0018	131	420	0.3119	-16	c.147 others(29): Show c.147+74_147+89delGGCTGGGCGGCTGGGC	CFAP90	ENSG00000215217.7	transcript	ENST00000399810.7	protein_coding	1/2			chr5	TogoVar
CFAP91_chr3_119698022_119772102	119713083	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02055.hp2 HG02572.hp2 HG01361.hp1 HG02055.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0018 a0001c0001t0001 a0001c0003t0018	a0001c0001t0001g0304 a0001c0003t0018g0334 a0001c0003t0018g0335 a0001c0001t0001g0304 a0001c0003t0018g0334 a0001c0003t0018g0335	3	386	0.0078	-16	c.501 others(33): Show c.501-2443_501-2428delATTTATTTATTTATTT	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP91_chr3_119698022_119772102	119738332	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0306 a0001c0003t0001g0306	1	386	0.0026	-16	c.146 others(33): Show c.1461+869_1461+884delTTTTTTTTTTTTTTTT	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP92_chr3_128904873_128999076	128953604	TCTCCCTC others(9): Show TCTCCCTCTCCCTCTCC	T T	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19009.hp2 NA18999.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0034 a0001c0001t0001g0035	2	342	0.0059	-16	c.135 others(35): Show c.1354-7645_1354-7630delGGAGAGGGAGAGGGAG	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128953615	CTCTCCCT others(9): Show CTCTCCCTCCCTCTCCG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0295 a0001c0002t0001g0295	1	342	0.0029	-16	c.135 others(35): Show c.1354-7656_1354-7641delCGGAGAGGGAGGGAGA	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128953624	CCTCTCCG others(9): Show CCTCTCCGTCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	342	0.0029	-16	c.135 others(35): Show c.1354-7665_1354-7650delAGAGGGAGACGGAGAG	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128975426	GGGATGGA others(9): Show GGGATGGATGGATGGAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00642.hp1 others(58): Show HG00323.hp1 HG00423.hp1 HG00642.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01192.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01891.hp1 HG01952.hp1 HG01978.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03688.hp2 HG03927.hp1 HG04115.hp2 HG06807.hp1 NA18906.hp1 NA18960.hp1 NA18977.hp1 NA19007.hp2 NA19077.hp2 NA19090.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0013 others(3): Show a0001 a0004 a0013 a0015 a0019 a0021	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0021 a0001c0023 a0001c0024 a0004c0010 a0004c0030 a0013c0015 a0015c0016 a0019c0013 a0021c0011	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0021t0001 a0001c0023t0005 a0001c0024t0005 a0004c0010t0001 a0004c0030t0001 a0013c0015t0001 a0015c0016t0001 a0019c0013t0001 a0021c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0141 a0001c0001t0001g0142 others(54): Show a0001c0001t0001g0003 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0186 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0295 a0001c0003t0001g0004 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0199 a0001c0021t0001g0198 a0001c0023t0005g0333 a0001c0024t0005g0332 a0004c0010t0001g0329 a0004c0010t0001g0330 a0004c0030t0001g0328 a0013c0015t0001g0187 a0015c0016t0001g0176 a0019c0013t0001g0049 a0021c0011t0001g0047	61	342	0.1784	-16	c.102 others(33): Show c.1021+337_1021+352delATCCATCCATCCATCC	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	7/15			chr3	TogoVar
CFAP95_chr9_69815817_69911227	69841164	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02970.hp2 HG03225.hp1 others(1): Show HG02622.hp2 HG02970.hp2 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 others(1): Show a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0013t0001g0154	4	380	0.0105	-16	c.153 others(33): Show c.153-3335_153-3320delATATATATATATATAT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP99_chr4_2413955_2468002	2447929	GTGGATGG others(9): Show GTGGATGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03471.hp1 HG01975.hp2 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0167 a0001c0006t0001g0168 a0001c0006t0001g0167 a0001c0006t0001g0168	2	350	0.0057	-16	c.643 others(33): Show c.643-1705_643-1690delATGGATGGATGGATGG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFDP1_chr16_75288710_75438503	75297145	CTTGTGTG others(9): Show CTTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	314	0.0032	-16	c.810 others(33): Show c.810-3119_810-3104delACACACACACACACAA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75306887	ACACACAC others(9): Show ACACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03688.hp1 HG01167.hp1 HG01169.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003	3	314	0.0096	-16	c.651 others(33): Show c.651-1721_651-1706delCGTGTGTGTGTGTGTG	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75384884	ATATATAT others(9): Show ATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	314	0.0032	-16	c.650 others(35): Show c.650+10190_650+10205delAATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75432423	CACCTGCA others(9): Show CACCTGCAGTCCCAGCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG01109.hp2 others(37): Show HG00280.hp1 HG00423.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02647.hp2 HG02683.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp2 NA18522.hp1 NA18943.hp1 NA18956.hp2 NA18981.hp2 NA18998.hp1 NA19058.hp2 NA19062.hp1 NA19090.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0005 a0001c0001 a0002c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0003t0002 a0005c0005t0002	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 others(37): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0002g0147 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0004g0148 a0002c0003t0002g0158 a0002c0003t0002g0179 a0005c0005t0002g0161	40	314	0.1274	-16	c.64+ others(29): Show c.64+850_64+865delAGCTGGGACTGCAGGT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	1/6			chr16	TogoVar
CFD_chr19_854664_868641	867292	CGGGGGCC others(9): Show CGGGGGCCTTAAAGTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(59): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18982.hp1 NA18995.hp2 NA18997.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0005t0010 a0001c0006t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0002g0003 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0003g0014 a0001c0001t0006g0008 a0001c0001t0006g0038 a0001c0001t0006g0044 a0001c0001t0008g0010 a0001c0001t0008g0043 a0001c0001t0011g0022 a0001c0001t0012g0032 a0001c0001t0014g0004 a0001c0001t0015g0036 a0001c0005t0010g0066 a0001c0006t0001g0080 a0003c0004t0001g0030	62	287	0.2160	-16	c.40 others(27): Show c.4055_*4070delGGGGGCCTTAAAGTGG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3652		chr19	TogoVar
CFHR1_chr1_196814731_196837189	196823093	ATATATAT others(9): Show ATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0039 a0001c0003t0002g0039	1	275	0.0036	-16	c.59- others(31): Show c.59-2382_59-2367delATATATATGTGTGTGT	CFHR1	ENSG00000244414.8	transcript	ENST00000320493.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR2_chr1_196938738_196964622	196947816	GGAATGTA others(9): Show GGAATGTACAACATCAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp1 others(65): Show HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02109.hp1 HG02145.hp2 HG02165.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03139.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18940.hp1 NA18944.hp1 NA18952.hp1 NA18955.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18978.hp2 NA18980.hp1 NA18987.hp1 NA18988.hp1 NA18997.hp1 NA18998.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19057.hp2 NA19068.hp2 NA19079.hp1 NA19086.hp1 NA19089.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 others(23): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0138	68	370	0.1838	-16	c.59- others(31): Show c.59-1636_59-1621delATGTACAACATCAAGA	CFHR2	ENSG00000080910.14	transcript	ENST00000367415.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR3_chr1_196769840_196800407	196773677	TATATATA others(9): Show TATATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0026 a0002c0001t0003g0026	1	261	0.0038	-16	c.-12 others(27): Show c.-1209_-1194delATATATATATATATAC	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		1162		chr1	TogoVar
CFHR5_chr1_196972556_197014678	196999718	TATATACA others(9): Show TATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01106.hp1 others(2): Show HG00735.hp1 HG01081.hp1 HG01106.hp1 HG02132.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0233 a0001c0001t0001g0010 a0001c0001t0001g0233	5	356	0.0140	-16	c.114 others(35): Show c.1147+1420_1147+1435delCACACACACACATATA	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR5_chr1_196972556_197014678	197010567	GAGGGAAG others(9): Show GAGGGAAGGAAGGAAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	356	0.0028	-16	c.18 others(27): Show c.1885_*1900delAGGGAAGGAAGGAAGC	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding		890		chr1	TogoVar
CFH_chr1_196647043_196752504	196692532	CTTTCTTT others(9): Show CTTTCTTTCTTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02698.hp2 HG03041.hp1 others(14): Show HG01099.hp1 HG02698.hp2 HG03041.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03834.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18942.hp1 NA18955.hp1 NA18978.hp2 NA18997.hp1 NA19007.hp2 NA19010.hp2 NA19057.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0001c0008 a0016c0021 a0001c0001 a0001c0008 a0016c0021	a0001c0001t0001 a0001c0001t0004 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0008t0001 a0016c0021t0001	a0001c0001t0001g0039 a0001c0001t0001g0275 a0001c0001t0001g0278 others(14): Show a0001c0001t0001g0039 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0004g0290 a0001c0008t0001g0056 a0016c0021t0001g0287	17	308	0.0552	-16	c.133 others(35): Show c.1336+2305_1336+2320delTTCTTTTTCTTTCTTT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196692746	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00558.hp1 others(25): Show HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00642.hp2 HG01255.hp1 HG01346.hp2 HG01496.hp2 HG02280.hp2 HG02698.hp2 HG03098.hp1 HG03486.hp1 HG03516.hp1 HG03834.hp1 HG04199.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18959.hp1 NA18970.hp2 NA18971.hp1 NA18978.hp2 NA18995.hp1 NA18997.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19068.hp1 NA19087.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0020	a0001c0001 a0001c0010 a0002c0002 others(4): Show a0001c0001 a0001c0010 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0020c0026	a0001c0001t0001 a0001c0010t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0010t0001 a0002c0002t0001 a0003c0003t0001 a0005c0005t0002 a0006c0006t0001 a0020c0026t0001	a0001c0001t0001g0039 a0001c0001t0001g0177 a0001c0001t0001g0181 others(25): Show a0001c0001t0001g0039 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0201 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0291 a0001c0010t0001g0276 a0002c0002t0001g0053 a0002c0002t0001g0067 a0002c0002t0001g0081 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0183 a0003c0003t0001g0090 a0003c0003t0001g0146 a0005c0005t0002g0010 a0005c0005t0002g0011 a0006c0006t0001g0019 a0020c0026t0001g0119	28	308	0.0909	-16	c.133 others(35): Show c.1336+2569_1336+2584delTTCTTTCTTTCTTTCT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714662	TATATATA others(9): Show TATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19003.hp1 NA18980.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0155 a0002c0002t0001g0077 a0002c0002t0001g0155	2	308	0.0065	-16	c.151 others(33): Show c.1519+747_1519+762delTATATAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714666	TATAGAGA others(9): Show TATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0106 a0002c0002t0001g0106	1	308	0.0033	-16	c.151 others(33): Show c.1519+751_1519+766delTAGAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	TAGAGAGA others(9): Show TAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	308	0.0033	-16	c.151 others(33): Show c.1519+787_1519+802delGAGAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109756888	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01168.hp2 HG01257.hp1 others(30): Show HG00099.hp2 HG01168.hp2 HG01257.hp1 HG01258.hp1 HG01516.hp1 HG01517.hp2 HG02004.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02922.hp2 HG03041.hp1 HG03209.hp1 HG03471.hp1 HG04115.hp2 NA18961.hp2 NA18968.hp2 NA18969.hp1 NA18975.hp1 NA18975.hp2 NA18984.hp1 NA18985.hp1 NA18997.hp1 NA18998.hp2 NA19003.hp1 NA19011.hp2 NA19056.hp2 NA19065.hp1 NA19081.hp1 NA19084.hp2 NA19090.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0005 a0001c0001t0001 a0001c0002t0001 a0001c0006t0005	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0161 others(28): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0282 a0001c0001t0001g0299 a0001c0001t0001g0331 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0002t0001g0038 a0001c0002t0001g0051 a0001c0002t0001g0089 a0001c0002t0001g0271 a0001c0006t0005g0042	33	354	0.0932	-16	c.904 others(31): Show c.904+859_904+874delTTTCTTTCTTTCTTTC	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFLAR_chr2_201111164_201181687	201114038	ATATATAT others(9): Show ATATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0018 a0001c0002t0046g0018	1	234	0.0043	-16	c.-25 others(27): Show c.-2580_-2565delTATATATATTTTTTTT	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding		2125		chr2	TogoVar
CFTR_chr7_117475025_117673665	117612038	TATATATA others(9): Show TATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0156 a0001c0005t0003g0156	1	202	0.0050	-16	c.336 others(33): Show c.3367+244_3367+259delTACATATATATATATA	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CGAS_chr6_73418711_73457297	73456285	AGATTTTT others(9): Show AGATTTTTACCACCCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0138 a0002c0001t0001g0138	1	410	0.0024	-16	c.-41 others(27): Show c.-4120_-4105delCAGGGTGGTAAAAATC	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		3989		chr6	TogoVar
CGB3_chr19_49017869_49029333	49026698	GAGTTCCA others(9): Show GAGTTCCAGACCAGCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	391	0.0026	-16	c.-27 others(27): Show c.-2743_-2728delAGGCTGGTCTGGAACT	CGB3	ENSG00000104827.12	transcript	ENST00000357383.4	protein_coding		2366		chr19	TogoVar
CGB7_chr19_49049274_49062749	49060036	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01081.hp2 others(4): Show HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01243.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	7	422	0.0166	-16	c.-39 others(27): Show c.-3939_-3924delTTTTTTTTTTTTTTTT	CGB7	ENSG00000196337.14	transcript	ENST00000684222.1	protein_coding		2288		chr19	TogoVar
CGNL1_chr15_57371505_57555717	57374538	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0020 a0011c0012t0020	a0011c0012t0020g0024 a0011c0012t0020g0024	1	294	0.0034	-16	c.-20 others(27): Show c.-2044_-2029delTGTGTGTGTGTGTGTG	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding		1966		chr15	TogoVar
CGNL1_chr15_57371505_57555717	57383615	TCTTTTCT others(9): Show TCTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp1 HG02723.hp2 others(1): Show HG02486.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2	a0006 a0009 a0019 others(1): Show a0006 a0009 a0019 a0023	a0006c0007 a0009c0014 a0019c0030 others(1): Show a0006c0007 a0009c0014 a0019c0030 a0023c0029	a0006c0007t0005 a0009c0014t0006 a0019c0030t0005 others(1): Show a0006c0007t0005 a0009c0014t0006 a0019c0030t0005 a0023c0029t0009	a0006c0007t0005g0291 a0009c0014t0006g0292 a0019c0030t0005g0293 others(1): Show a0006c0007t0005g0291 a0009c0014t0006g0292 a0019c0030t0005g0293 a0023c0029t0009g0289	4	294	0.0136	-16	c.-16 others(33): Show c.-16+7049_-16+7064delCTTTTCTTTTCTTTTC	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18			chr15	TogoVar
CGNL1_chr15_57371505_57555717	57447805	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02055.hp2 others(7): Show HG01243.hp1 HG01891.hp2 HG02055.hp2 HG02486.hp2 HG02622.hp2 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG03195.hp2 NA19030.hp2	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0009 a0014 a0023 a0028	a0001c0001 a0002c0002 a0006c0007 others(4): Show a0001c0001 a0002c0002 a0006c0007 a0009c0014 a0014c0016 a0023c0029 a0028c0021	a0001c0001t0001 a0002c0002t0029 a0002c0002t0040 others(5): Show a0001c0001t0001 a0002c0002t0029 a0002c0002t0040 a0006c0007t0005 a0009c0014t0006 a0014c0016t0004 a0023c0029t0009 a0028c0021t0008	a0001c0001t0001g0190 a0002c0002t0029g0285 a0002c0002t0040g0159 others(7): Show a0001c0001t0001g0190 a0002c0002t0029g0285 a0002c0002t0040g0159 a0006c0007t0005g0142 a0006c0007t0005g0164 a0006c0007t0005g0291 a0009c0014t0006g0292 a0014c0016t0004g0009 a0023c0029t0009g0289 a0028c0021t0008g0007	10	294	0.0340	-16	c.180 others(35): Show c.1804-3670_1804-3655delGTGTGTGTGTGTGTGT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57468559	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG00735.hp1 others(27): Show HG00323.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02602.hp2 HG03654.hp2 HG04115.hp1 NA18952.hp2 NA18954.hp1 NA18974.hp1 NA18977.hp2 NA18984.hp1 NA18989.hp2 NA18993.hp2 NA18995.hp2 NA19002.hp1 NA19004.hp2 NA19011.hp2 NA19060.hp2 NA19080.hp1 NA19087.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0024 a0027	a0001c0001 a0001c0005 a0001c0011 others(9): Show a0001c0001 a0001c0005 a0001c0011 a0001c0015 a0002c0026 a0002c0040 a0003c0003 a0003c0032 a0004c0017 a0007c0009 a0024c0024 a0027c0022	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0005t0002 a0001c0011t0002 a0001c0011t0022 a0001c0015t0001 a0002c0026t0018 a0002c0040t0003 a0003c0003t0002 a0003c0003t0016 a0003c0032t0002 a0004c0017t0002 a0007c0009t0003 a0024c0024t0002 a0027c0022t0002	a0001c0001t0001g0065 a0001c0001t0001g0078 a0001c0001t0001g0109 others(27): Show a0001c0001t0001g0065 a0001c0001t0001g0078 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0258 a0001c0001t0002g0060 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0213 a0001c0001t0002g0240 a0001c0005t0001g0222 a0001c0005t0002g0200 a0001c0005t0002g0214 a0001c0005t0002g0215 a0001c0011t0002g0084 a0001c0011t0002g0103 a0001c0011t0022g0152 a0001c0015t0001g0018 a0002c0026t0018g0166 a0002c0040t0003g0069 a0003c0003t0002g0207 a0003c0003t0016g0147 a0003c0003t0016g0198 a0003c0032t0002g0074 a0004c0017t0002g0278 a0007c0009t0003g0148 a0024c0024t0002g0111 a0027c0022t0002g0173	30	294	0.1020	-16	c.240 others(35): Show c.2403+6684_2403+6699delGTGTGTGTGTGTGTGT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57513280	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp2 HG02896.hp1 others(6): Show HG02257.hp1 HG02717.hp2 HG02896.hp1 HG02965.hp1 HG03130.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 NA19043.hp2	a0002 a0005 a0013 a0002 a0005 a0013	a0002c0002 a0005c0006 a0013c0018 a0002c0002 a0005c0006 a0013c0018	a0002c0002t0007 a0002c0002t0008 a0002c0002t0014 others(2): Show a0002c0002t0007 a0002c0002t0008 a0002c0002t0014 a0005c0006t0008 a0013c0018t0031	a0002c0002t0007g0006 a0002c0002t0007g0055 a0002c0002t0007g0058 others(6): Show a0002c0002t0007g0006 a0002c0002t0007g0055 a0002c0002t0007g0058 a0002c0002t0007g0099 a0002c0002t0007g0259 a0002c0002t0008g0273 a0002c0002t0014g0040 a0005c0006t0008g0004 a0013c0018t0031g0264	9	294	0.0306	-16	c.240 others(35): Show c.2404-3493_2404-3478delTGTGTGTGTTTGTGTG	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57521492	GCCTAATA others(9): Show GCCTAATAGTGAACATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	294	0.0034	-16	c.271 others(35): Show c.2716-1994_2716-1979delTAATAGTGAACATACC	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57529559	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18971.hp1 NA18948.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0071 a0001c0001t0001g0082	2	294	0.0068	-16	c.320 others(33): Show c.3201+779_3201+794delACACACACACACACAC	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116871	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01358.hp1 HG02451.hp1 others(2): Show HG00639.hp2 HG01358.hp1 HG02451.hp1 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0005g0009 others(1): Show a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0005g0009 a0001c0002t0005g0036	5	352	0.0142	-16	c.-12 others(33): Show c.-12+1959_-12+1974delGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGRRF1_chr14_54504906_54544292	54535359	TCACACAC others(9): Show TCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	338	0.0030	-16	c.571 others(33): Show c.571-2343_571-2328delACACACACACACACAC	CGRRF1	ENSG00000100532.13	transcript	ENST00000216420.12	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr14	TogoVar

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