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
CEP72_chr5_607340_658553	649962	CGTGGACT others(7): Show CGTGGACTGTGAGGT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0022 a0003c0003t0002g0023	2	91	0.0220	-14	c.177 others(33): Show c.1778+2050_1778+2063delGACTGTGAGGTGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650256	TGACTGTG others(7): Show TGACTGTGAGGCGTG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	91	0.0110	-14	c.177 others(33): Show c.1778+2351_1778+2364delCGTGGACTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650336	TGACTGTG others(7): Show TGACTGTGAGGCGTG	T T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02451.hp2 NA20129.hp2 HG01258.hp1 HG02451.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0005 a0003c0003 a0003c0005	a0003c0003t0002 a0003c0005t0002 a0003c0003t0002 a0003c0005t0002	a0003c0003t0002g0022 a0003c0005t0002g0014 a0003c0005t0002g0019 a0003c0003t0002g0022 a0003c0005t0002g0014 a0003c0005t0002g0019	3	91	0.0330	-14	c.177 others(33): Show c.1778+2431_1778+2444delCGTGGACTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP76_chr18_12667625_12707723	12668597	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	380	0.0026	-14	c.47 others(25): Show c.4754_*4767delTTTTTTTTTTTTTT	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		4027		chr18	TogoVar
CEP76_chr18_12667625_12707723	12669032	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp1 others(87): Show HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02698.hp1 HG02922.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18947.hp2 NA18953.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18969.hp1 NA18970.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18989.hp2 NA18991.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19010.hp2 NA19055.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19076.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0010 others(62): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0009g0197	90	380	0.2368	-14	c.43 others(25): Show c.4319_*4332delAAAAAAAAAAAAAA	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		3592		chr18	TogoVar
CEP78_chr9_78231075_78284690	78236969	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03139.hp2 HG02976.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0098 a0001c0001t0035g0099 a0001c0001t0035g0098 a0001c0001t0035g0099	2	340	0.0059	-14	c.253 others(29): Show c.253+382_253+395delTTTTTTTTTTTTTT	CEP78	ENSG00000148019.14	transcript	ENST00000643273.2	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP78_chr9_78231075_78284690	78284610	CTGAGCCT others(7): Show CTGAGCCTGGGGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0047	1	340	0.0029	-14	c.13 others(27): Show c.13760_*13773delTGAGCCTGGGGAGG	CEP78	ENSG00000148019.14	transcript	ENST00000643273.2	protein_coding		4921		chr9	TogoVar
CEP83_chr12_94302698_94464867	94376690	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0082 a0001c0004t0001g0082	1	364	0.0028	-14	c.802 others(29): Show c.802-687_802-674delGTGTGTGTGTGTGT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	7/16			chr12	TogoVar
CEP85L_chr6_118455772_118656591	118491194	TATACACA others(7): Show TATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG01934.hp1 others(13): Show HG01109.hp1 HG01891.hp2 HG01934.hp1 HG02257.hp1 HG02486.hp1 HG02622.hp1 HG02698.hp2 HG02735.hp1 HG03130.hp2 HG03688.hp1 HG03942.hp1 NA18966.hp2 NA18972.hp2 NA18975.hp1 NA19240.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0012 a0002c0002 a0002c0012	a0002c0002t0005 a0002c0002t0024 a0002c0012t0005 a0002c0002t0005 a0002c0002t0024 a0002c0012t0005	a0002c0002t0005g0261 a0002c0002t0005g0262 a0002c0002t0005g0264 others(13): Show a0002c0002t0005g0261 a0002c0002t0005g0262 a0002c0002t0005g0264 a0002c0002t0005g0265 a0002c0002t0005g0266 a0002c0002t0005g0267 a0002c0002t0005g0268 a0002c0002t0005g0269 a0002c0002t0005g0270 a0002c0002t0005g0271 a0002c0002t0005g0277 a0002c0002t0005g0283 a0002c0002t0005g0284 a0002c0002t0005g0285 a0002c0002t0024g0272 a0002c0012t0005g0263	16	302	0.0530	-14	c.143 others(31): Show c.1437+478_1437+491delGTGTGTGTGTGTAT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	6/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118505409	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0277 a0002c0002t0005g0277	1	302	0.0033	-14	c.125 others(33): Show c.1257+5875_1257+5888delTTTTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	5/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519432	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0267 a0002c0002t0005g0267	1	302	0.0033	-14	c.113 others(33): Show c.1139+4356_1139+4369delCACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519539	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0011 a0007c0007t0011	a0007c0007t0011g0253 a0007c0007t0011g0253	1	302	0.0033	-14	c.113 others(33): Show c.1139+4249_1139+4262delACACACACACACAC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118529608	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0007 a0003c0003t0003g0007	1	302	0.0033	-14	c.102 others(33): Show c.1021-5702_1021-5689delTTTTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567209	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01069.hp2 HG01167.hp1 others(11): Show HG00408.hp1 HG01069.hp2 HG01167.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG02040.hp1 HG02486.hp2 HG04184.hp2 HG04204.hp1 NA18944.hp2 NA18969.hp2 NA18978.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0007c0007 a0008c0013 a0001c0001 a0007c0007 a0008c0013	a0001c0001t0001 a0007c0007t0020 a0008c0013t0001 a0001c0001t0001 a0007c0007t0020 a0008c0013t0001	a0001c0001t0001g0066 a0001c0001t0001g0110 a0001c0001t0001g0114 others(11): Show a0001c0001t0001g0066 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0170 a0007c0007t0020g0176 a0008c0013t0001g0071	14	302	0.0464	-14	c.233 others(29): Show c.233-907_233-894delCACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567237	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18974.hp1 NA18982.hp2 NA18942.hp1 NA18974.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0105 a0001c0001t0001g0160 a0001c0001t0001g0067 a0001c0001t0001g0105 a0001c0001t0001g0160	3	302	0.0099	-14	c.233 others(29): Show c.233-935_233-922delTACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567239	GTGTGTGT others(7): Show GTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	302	0.0033	-14	c.233 others(29): Show c.233-937_233-924delTATACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567243	GTGTGTGT others(7): Show GTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0015 a0005c0005t0015	a0005c0005t0015g0301 a0005c0005t0015g0301	1	302	0.0033	-14	c.233 others(29): Show c.233-941_233-928delTATATATACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP89_chr19_32870925_32976958	32892202	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(80): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00673.hp1 HG01106.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02897.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03239.hp1 HG03540.hp2 HG03688.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18972.hp1 NA18980.hp2 NA18986.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp2 NA19070.hp2 NA19075.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0015	a0001c0004 a0002c0001 a0002c0025 others(5): Show a0001c0004 a0002c0001 a0002c0025 a0003c0003 a0003c0010 a0004c0006 a0006c0009 a0015c0014	a0001c0004t0002 a0002c0001t0002 a0002c0001t0008 others(11): Show a0001c0004t0002 a0002c0001t0002 a0002c0001t0008 a0002c0001t0017 a0002c0001t0018 a0002c0025t0002 a0003c0003t0002 a0003c0010t0002 a0004c0006t0009 a0004c0006t0011 a0004c0006t0026 a0004c0006t0027 a0006c0009t0011 a0015c0014t0002	a0001c0004t0002g0181 a0002c0001t0002g0004 a0002c0001t0002g0005 others(78): Show a0001c0004t0002g0181 a0002c0001t0002g0004 a0002c0001t0002g0005 a0002c0001t0002g0073 a0002c0001t0002g0151 a0002c0001t0002g0152 a0002c0001t0002g0153 a0002c0001t0002g0154 a0002c0001t0002g0155 a0002c0001t0002g0156 a0002c0001t0002g0157 a0002c0001t0002g0159 a0002c0001t0002g0160 a0002c0001t0002g0161 a0002c0001t0002g0162 a0002c0001t0002g0163 a0002c0001t0002g0165 a0002c0001t0002g0311 a0002c0001t0002g0313 a0002c0001t0002g0320 a0002c0001t0002g0321 a0002c0001t0002g0322 a0002c0001t0002g0325 a0002c0001t0002g0326 a0002c0001t0002g0327 a0002c0001t0002g0328 a0002c0001t0002g0330 a0002c0001t0002g0333 a0002c0001t0002g0334 a0002c0001t0002g0335 a0002c0001t0002g0336 a0002c0001t0002g0339 a0002c0001t0002g0341 a0002c0001t0002g0342 a0002c0001t0002g0343 a0002c0001t0002g0344 a0002c0001t0002g0348 a0002c0001t0002g0351 a0002c0001t0002g0352 a0002c0001t0002g0353 a0002c0001t0002g0355 a0002c0001t0002g0356 a0002c0001t0002g0359 a0002c0001t0002g0360 a0002c0001t0002g0361 a0002c0001t0002g0362 a0002c0001t0002g0363 a0002c0001t0002g0367 a0002c0001t0002g0368 a0002c0001t0002g0369 a0002c0001t0002g0370 a0002c0001t0002g0373 a0002c0001t0008g0006 a0002c0001t0008g0007 a0002c0001t0008g0008 a0002c0001t0008g0009 a0002c0001t0008g0010 a0002c0001t0008g0011 a0002c0001t0008g0012 a0002c0001t0008g0013 a0002c0001t0008g0014 a0002c0001t0017g0347 a0002c0001t0017g0354 a0002c0001t0018g0337 a0002c0001t0018g0338 a0002c0025t0002g0374 a0003c0003t0002g0265 a0003c0010t0002g0105 a0004c0006t0009g0136 a0004c0006t0009g0137 a0004c0006t0009g0138 a0004c0006t0009g0139 a0004c0006t0009g0141 a0004c0006t0009g0142 a0004c0006t0009g0146 a0004c0006t0009g0270 a0004c0006t0011g0143 a0004c0006t0026g0144 a0004c0006t0027g0140 a0006c0009t0011g0125 a0015c0014t0002g0323	83	386	0.2150	-14	c.187 others(33): Show c.1876-4375_1876-4362delATATATATATATAT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	16/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32913308	TTTTTGTT others(7): Show TTTTTGTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01496.hp1 HG02080.hp1 others(19): Show HG00140.hp1 HG01496.hp1 HG02080.hp1 HG02155.hp1 HG02258.hp1 HG02723.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 NA18522.hp2 NA18906.hp2 NA18944.hp1 NA18961.hp2 NA18995.hp1 NA19010.hp2 NA19011.hp2 NA19063.hp2 NA19070.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0008 a0002c0001t0002 a0002c0001t0008	a0002c0001t0002g0004 a0002c0001t0002g0073 a0002c0001t0002g0126 others(18): Show a0002c0001t0002g0004 a0002c0001t0002g0073 a0002c0001t0002g0126 a0002c0001t0002g0153 a0002c0001t0002g0157 a0002c0001t0002g0160 a0002c0001t0002g0161 a0002c0001t0002g0311 a0002c0001t0002g0320 a0002c0001t0002g0326 a0002c0001t0002g0360 a0002c0001t0002g0361 a0002c0001t0008g0006 a0002c0001t0008g0007 a0002c0001t0008g0008 a0002c0001t0008g0009 a0002c0001t0008g0010 a0002c0001t0008g0011 a0002c0001t0008g0012 a0002c0001t0008g0013 a0002c0001t0008g0014	22	386	0.0570	-14	c.156 others(33): Show c.1565+2015_1565+2028delCAACAACAACAAAA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32913311	TTGTTGTT others(7): Show TTGTTGTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00438.hp2 others(62): Show HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01884.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02293.hp2 HG02451.hp1 HG02602.hp2 HG02647.hp1 HG02717.hp2 HG02818.hp1 HG02897.hp1 HG03017.hp2 HG03098.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp1 NA18612.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18952.hp1 NA18953.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18972.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18982.hp1 NA18986.hp2 NA18994.hp1 NA18997.hp2 NA19004.hp1 NA19005.hp2 NA19012.hp2 NA19075.hp1 NA19082.hp1 NA19087.hp2 NA20300.hp2	a0002 a0003 a0013 others(1): Show a0002 a0003 a0013 a0015	a0002c0001 a0002c0025 a0003c0003 others(2): Show a0002c0001 a0002c0025 a0003c0003 a0013c0024 a0015c0014	a0002c0001t0001 a0002c0001t0002 a0002c0001t0016 others(5): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0016 a0002c0001t0017 a0002c0025t0002 a0003c0003t0002 a0013c0024t0002 a0015c0014t0002	a0002c0001t0001g0332 a0002c0001t0001g0350 a0002c0001t0002g0005 others(61): Show a0002c0001t0001g0332 a0002c0001t0001g0350 a0002c0001t0002g0005 a0002c0001t0002g0150 a0002c0001t0002g0151 a0002c0001t0002g0152 a0002c0001t0002g0154 a0002c0001t0002g0155 a0002c0001t0002g0156 a0002c0001t0002g0158 a0002c0001t0002g0159 a0002c0001t0002g0162 a0002c0001t0002g0163 a0002c0001t0002g0165 a0002c0001t0002g0313 a0002c0001t0002g0314 a0002c0001t0002g0315 a0002c0001t0002g0316 a0002c0001t0002g0318 a0002c0001t0002g0319 a0002c0001t0002g0321 a0002c0001t0002g0322 a0002c0001t0002g0325 a0002c0001t0002g0327 a0002c0001t0002g0328 a0002c0001t0002g0329 a0002c0001t0002g0330 a0002c0001t0002g0331 a0002c0001t0002g0333 a0002c0001t0002g0334 a0002c0001t0002g0335 a0002c0001t0002g0336 a0002c0001t0002g0339 a0002c0001t0002g0340 a0002c0001t0002g0341 a0002c0001t0002g0342 a0002c0001t0002g0343 a0002c0001t0002g0344 a0002c0001t0002g0345 a0002c0001t0002g0346 a0002c0001t0002g0348 a0002c0001t0002g0349 a0002c0001t0002g0351 a0002c0001t0002g0352 a0002c0001t0002g0353 a0002c0001t0002g0355 a0002c0001t0002g0356 a0002c0001t0002g0358 a0002c0001t0002g0359 a0002c0001t0002g0362 a0002c0001t0002g0363 a0002c0001t0002g0367 a0002c0001t0002g0368 a0002c0001t0002g0369 a0002c0001t0002g0370 a0002c0001t0002g0371 a0002c0001t0002g0372 a0002c0001t0016g0317 a0002c0001t0017g0347 a0002c0001t0017g0354 a0002c0025t0002g0374 a0003c0003t0002g0265 a0013c0024t0002g0324 a0015c0014t0002g0323	65	386	0.1684	-14	c.156 others(33): Show c.1565+2012_1565+2025delCAACAACAACAACA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32951511	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00621.hp2 others(72): Show HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01515.hp1 HG01952.hp2 HG02040.hp1 HG02055.hp2 HG02080.hp2 HG02129.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02735.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp2 NA18947.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18972.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19055.hp1 NA19058.hp1 NA19068.hp2 NA19075.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0000 a0001 a0003 a0000 a0001 a0003	a0000c0012 a0001c0002 a0001c0016 others(1): Show a0000c0012 a0001c0002 a0001c0016 a0003c0003	a0000c0012t0004 a0001c0002t0001 a0001c0002t0015 others(6): Show a0000c0012t0004 a0001c0002t0001 a0001c0002t0015 a0001c0002t0016 a0001c0002t0031 a0001c0016t0030 a0003c0003t0003 a0003c0003t0010 a0003c0003t0038	a0000c0012t0004g0065 a0001c0002t0001g0001 a0001c0002t0001g0002 others(69): Show a0000c0012t0004g0065 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0357 a0001c0002t0015g0021 a0001c0002t0015g0044 a0001c0002t0016g0023 a0001c0002t0031g0053 a0001c0016t0030g0055 a0003c0003t0003g0222 a0003c0003t0003g0226 a0003c0003t0003g0227 a0003c0003t0003g0228 a0003c0003t0003g0249 a0003c0003t0010g0218 a0003c0003t0038g0229	75	386	0.1943	-14	c.492 others(31): Show c.492+2090_492+2103delTATATATATATATA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	4/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32963892	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0309 a0002c0001t0002g0309	1	386	0.0026	-14	c.146 others(31): Show c.146+2454_146+2467delTGTGTGTGTGTGTG	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	2/18			chr19	TogoVar
CER1_chr9_14714724_14727733	14723164	TCACACAC others(7): Show TCACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	460	0.0022	-14	c.-50 others(23): Show c.-506_-493delTGTGTGTGTGTGTG	CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding		432		chr9	TogoVar
CERCAM_chr9_128415857_128442347	128418580	TTTTTTTG others(7): Show TTTTTTTGTTTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA19011.hp2 NA18975.hp2 NA19011.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0021 a0001c0001 a0008c0021	a0001c0001t0001 a0008c0021t0001 a0001c0001t0001 a0008c0021t0001	a0001c0001t0001g0100 a0008c0021t0001g0126 a0001c0001t0001g0100 a0008c0021t0001g0126	2	400	0.0050	-14	c.-22 others(25): Show c.-2297_-2284delTTTTTTGTTTTTTG	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		2276		chr9	TogoVar
CERCAM_chr9_128415857_128442347	128429627	TCTCCGTC others(7): Show TCTCCGTCTGTTGCC	T T	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	400	0.0025	-14	c.107 others(31): Show c.1070+607_1070+620delTCCGTCTGTTGCCC	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
CERCAM_chr9_128415857_128442347	128437429	ATATATAT others(7): Show ATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG01884.hp1 HG02280.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0045 a0005c0013t0001g0045	2	400	0.0050	-14	c.58 others(23): Show c.582_*595delTATATATATATATG	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		83		chr9	TogoVar
CERCAM_chr9_128415857_128442347	128437856	TATATACA others(7): Show TATATACACATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 NA19030.hp2 NA19240.hp2 HG03225.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217	3	400	0.0075	-14	c.10 others(25): Show c.1009_*1022delATATACACATACAC	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		510		chr9	TogoVar
CERCAM_chr9_128415857_128442347	128437952	TACACGTA others(7): Show TACACGTATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	-14	c.11 others(25): Show c.1105_*1118delACACGTATATACAC	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		606		chr9	TogoVar
CERKL_chr2_181531672_181662105	181536585	AAAATTCA others(7): Show AAAATTCATAAATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02109.hp2 others(5): Show HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02647.hp2 HG03041.hp2 HG03130.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0005 a0001c0001t0021 a0001c0002t0005	a0001c0001t0021g0183 a0001c0002t0005g0003 a0001c0002t0005g0054 others(4): Show a0001c0001t0021g0183 a0001c0002t0005g0003 a0001c0002t0005g0054 a0001c0002t0005g0058 a0001c0002t0005g0059 a0001c0002t0005g0084 a0001c0002t0005g0090	8	298	0.0269	-14	c.15 others(25): Show c.1585_*1598delAAATTTATGAATTT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding		86		chr2	TogoVar
CERKL_chr2_181531672_181662105	181601131	AAAAATTG others(7): Show AAAAATTGAAACATG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	298	0.0034	-14	c.481 others(31): Show c.481+2692_481+2705delCATGTTTCAATTTT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	2/12			chr2	TogoVar
CERKL_chr2_181531672_181662105	181641332	TATATATA others(7): Show TATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA19087.hp1 HG01167.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0046 a0001c0002t0003g0038 a0001c0002t0001g0046 a0001c0002t0003g0038	2	298	0.0067	-14	c.238 others(33): Show c.238+15423_238+15436delGTATATATATATAT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERK_chr22_46679410_46743252	46691056	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0006 a0003c0011t0006	a0003c0011t0006g0290 a0003c0011t0006g0290	1	340	0.0029	-14	c.133 others(31): Show c.1332+502_1332+515delGTGTGTGTGTGTGT	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding	11/12			chr22	TogoVar
CERK_chr22_46679410_46743252	46702223	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG06807.hp1 HG01243.hp1 HG02572.hp1 HG06807.hp1	a0001 a0001	a0001c0009 a0001c0018 a0001c0026 a0001c0009 a0001c0018 a0001c0026	a0001c0009t0047 a0001c0018t0060 a0001c0026t0017 a0001c0009t0047 a0001c0018t0060 a0001c0026t0017	a0001c0009t0047g0164 a0001c0018t0060g0184 a0001c0026t0017g0276 a0001c0009t0047g0164 a0001c0018t0060g0184 a0001c0026t0017g0276	3	340	0.0088	-14	c.716 others(29): Show c.716-527_716-514delCACACACACACACA	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding	6/12			chr22	TogoVar
CERS3_chr15_100395395_100533950	100431312	TAAATGGT others(7): Show TAAATGGTTCTTTAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 NA18941.hp2 others(5): Show HG00423.hp2 HG00544.hp2 NA18941.hp2 NA18983.hp2 NA19009.hp2 NA19063.hp1 NA19066.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0073 a0001c0001t0002g0074 others(5): Show a0001c0001t0002g0061 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0081 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0098	8	362	0.0221	-14	c.999 others(33): Show c.999+24567_999+24580delTTAAAGAACCATTT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	11/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100494210	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0103 a0002c0002t0006g0103	1	362	0.0028	-14	c.174 others(31): Show c.174-3293_174-3280delATATATATATATAT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	3/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100497852	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02280.hp1 HG02615.hp2 others(5): Show HG00733.hp2 HG02280.hp1 HG02615.hp2 HG02895.hp2 HG03453.hp2 HG03540.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0003 a0002c0002 a0006c0011 a0001c0003 a0002c0002 a0006c0011	a0001c0003t0012 a0001c0003t0037 a0002c0002t0001 others(3): Show a0001c0003t0012 a0001c0003t0037 a0002c0002t0001 a0002c0002t0006 a0002c0002t0028 a0006c0011t0001	a0001c0003t0012g0351 a0001c0003t0012g0352 a0001c0003t0037g0026 others(5): Show a0001c0003t0012g0351 a0001c0003t0012g0352 a0001c0003t0037g0026 a0002c0002t0001g0106 a0002c0002t0006g0103 a0002c0002t0006g0105 a0002c0002t0028g0305 a0006c0011t0001g0107	8	362	0.0221	-14	c.173 others(31): Show c.173+3811_173+3824delGTGTGTGTGTGTGT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	3/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100497884	CACACACA others(7): Show CACACACACACACTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01515.hp2 HG01517.hp2 others(4): Show HG00673.hp2 HG01515.hp2 HG01517.hp2 HG02300.hp1 NA18965.hp2 NA18978.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0028 others(4): Show a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0060 a0001c0001t0002g0252 a0001c0001t0018g0091	7	362	0.0193	-14	c.173 others(31): Show c.173+3779_173+3792delAAGTGTGTGTGTGT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	3/11			chr15	TogoVar
CERS4_chr19_8204370_8267421	8234542	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0360 a0001c0001t0002g0360	1	418	0.0024	-14	c.-1- others(31): Show c.-1-16519_-1-16506delTTTTTTTTTTTTTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS6_chr2_168451272_168780134	168477173	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0146 a0001c0001t0005g0146	1	176	0.0057	-14	c.170 others(33): Show c.170+20588_170+20601delAGAGAGAGAGAGAG	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168552349	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02922.hp2 others(1): Show HG02145.hp2 HG02486.hp1 HG02922.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0034 others(1): Show a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0034 a0001c0001t0010g0033	4	176	0.0227	-14	c.276 others(31): Show c.276+4677_276+4690delACACACACACACAC	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168645138	TATATAGA others(7): Show TATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0171 a0001c0001t0009g0171	1	176	0.0057	-14	c.465 others(33): Show c.465+14098_465+14111delTATAGAGAGAGAGA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168645140	TATAGAGA others(7): Show TATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02895.hp1 HG01884.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0003 a0001c0001t0012 a0001c0002t0003	a0001c0001t0012g0127 a0001c0002t0003g0077 a0001c0001t0012g0127 a0001c0002t0003g0077	2	176	0.0114	-14	c.465 others(33): Show c.465+14100_465+14113delTAGAGAGAGAGAGA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168645142	TAGAGAGA others(7): Show TAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02258.hp2 HG02572.hp2 others(1): Show HG02071.hp1 HG02258.hp2 HG02572.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0143 a0001c0001t0002g0009 a0001c0001t0003g0003 others(1): Show a0001c0001t0001g0143 a0001c0001t0002g0009 a0001c0001t0003g0003 a0001c0001t0004g0047	4	176	0.0227	-14	c.465 others(33): Show c.465+14135_465+14148delAGAGAGAGAGAGAG	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168746775	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02258.hp1 others(1): Show HG01884.hp2 HG02145.hp1 HG02258.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0017 a0001c0001t0003 a0001c0001t0012 a0001c0001t0017	a0001c0001t0003g0006 a0001c0001t0012g0050 a0001c0001t0012g0127 others(1): Show a0001c0001t0003g0006 a0001c0001t0012g0050 a0001c0001t0012g0127 a0001c0001t0017g0162	4	176	0.0227	-14	c.846 others(33): Show c.846-18784_846-18771delTATATATATATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168746808	TATATATA others(7): Show TATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0077 a0001c0002t0003g0077	1	176	0.0057	-14	c.846 others(33): Show c.846-18782_846-18769delTATATATATATAAA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168752305	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02622.hp2 HG02922.hp1 others(2): Show HG01255.hp2 HG02622.hp2 HG02922.hp1 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018	a0001c0001t0010g0015 a0001c0001t0010g0033 a0001c0001t0013g0126 others(2): Show a0001c0001t0010g0015 a0001c0001t0010g0033 a0001c0001t0013g0126 a0001c0001t0013g0174 a0001c0001t0018g0079	5	176	0.0284	-14	c.846 others(33): Show c.846-13285_846-13272delGTGTGTGTGTGTAT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CES1_chr16_55797851_55838096	55836670	GGGGCGGG others(7): Show GGGGCGGGGGGGATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show HG00438.hp1 HG02155.hp2 HG02735.hp1 HG03490.hp2 HG04115.hp2 NA18943.hp1 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0002 a0002c0006t0002 a0002c0002t0002 a0002c0006t0002	a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0006t0002g0068	7	87	0.0805	-14	c.-36 others(25): Show c.-3629_-3616delTATCCCCCCCGCCC	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding		3575		chr16	TogoVar
CES3_chr16_66956266_66980149	66959100	GAGAGAAA others(7): Show GAGAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01934.hp2 HG00741.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	2	330	0.0061	-14	c.-22 others(25): Show c.-2207_-2194delAGAGAAAGAAAGAA	CES3	ENSG00000172828.13	transcript	ENST00000303334.9	protein_coding		2165		chr16	TogoVar
CETN1_chr18_575380_587114	576444	GAGAGGAA others(7): Show GAGAGGAAGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	422	0.0024	-14	c.-39 others(25): Show c.-3964_-3951delAGAGGAAGGAAGGA	CETN1	ENSG00000177143.5	transcript	ENST00000327228.5	protein_coding		3935		chr18	TogoVar
CFAP100_chr3_126389909_126441556	126401397	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02683.hp1 HG04184.hp1 others(1): Show HG01099.hp2 HG02683.hp1 HG04184.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0191 a0001c0002t0001g0374 a0001c0002t0001g0383 others(1): Show a0001c0001t0001g0191 a0001c0002t0001g0374 a0001c0002t0001g0383 a0001c0002t0002g0193	4	422	0.0095	-14	c.49+ others(29): Show c.49+5381_49+5394delTATATATATATATA	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar

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