Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CDKL4_chr2_39170646_39248970	39217701	ATTATTTA others(17): Show ATTATTTATTTATTTATTTATTTAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00738.hp1 others(8): Show HG00280.hp2 HG00642.hp2 HG00738.hp1 HG01081.hp2 HG02486.hp1 HG02647.hp2 NA18998.hp2 NA19012.hp1 NA19058.hp2 NA19074.hp2 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0004 a0001c0001 a0006c0004	a0001c0001t0001 a0006c0004t0001 a0001c0001t0001 a0006c0004t0001	a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 others(8): Show a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0246 a0001c0001t0001g0247 a0006c0004t0001g0210	11	290	0.0379	-24	c.291 others(41): Show c.291-4253_291-4230delATAAATAAATAAATAAATAAATAA		CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	3/9						chr2	TogoVar
CDKL5_chrX_18420608_18645196	18470355	GAAAAAAA others(17): Show GAAAAAAAAAAAAAAGAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01884.hp2 others(3): Show HG01070.hp2 HG01071.hp2 HG01884.hp2 HG02630.hp1 NA18988.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0024 others(1): Show a0001c0001t0010 a0001c0001t0012 a0001c0001t0024 a0001c0001t0061	a0001c0001t0010g0170 a0001c0001t0010g0172 a0001c0001t0012g0001 others(3): Show a0001c0001t0010g0170 a0001c0001t0010g0172 a0001c0001t0012g0001 a0001c0001t0024g0095 a0001c0001t0024g0096 a0001c0001t0061g0005	6	192	0.0313	-24	c.-16 others(45): Show c.-162-36566_-162-36543delAGAAGAAAAGAAAAAAAAAAAAAA		CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKN1C_chr11_2878218_2890775	2884908	TGGAGCCG others(17): Show TGGAGCCGGGGCCGGAGCCGGAGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02965.hp1 HG02965.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0037 a0013c0017t0001g0037	1	417	0.0024	-24	c.525 others(31): Show c.525_548delGGCTCCGGCTCCGGCCCCGGCTCC	p.Ala others(13): Show p.Ala176_Pro183del	CDKN1C	ENSG00000129757.15	transcript	ENST00000440480.8	protein_coding	2/4	700/1773	525/918	175/305			chr11	TogoVar
CDNF_chr10_14814245_14843037	14826029	GAGAAGAA others(17): Show GAGAAGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	418	0.0024	-24	c.244 others(39): Show c.244-433_244-410delTCTTCTTCTTCTTCTTCTTCTTCT		CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3						chr10	TogoVar
CDON_chr11_125951821_126067866	125974386	AAGGAAGG others(17): Show AAGGAAGGGAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0010 a0002c0013t0010	a0002c0013t0010g0222 a0002c0013t0010g0222	1	334	0.0030	-24	c.335 others(43): Show c.3356+3894_3356+3917delCCCTCCCTCCCTCCCTCCCTTCCT		CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19						chr11	TogoVar
CDRT4_chr17_15431015_15472621	15465183	CACACATA others(17): Show CACACATACCAACACAGACACACCA	C C	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0060 a0002c0002t0002g0060	1	430	0.0023	-24	c.-13 others(43): Show c.-130+2253_-130+2276delTGGTGTGTCTGTGTTGGTATGTGT		CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding	1/3						chr17	TogoVar
CDS1_chr4_84578127_84656334	84599395	CACACACA others(17): Show CACACACACACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0007 a0001c0001t0009g0007	1	384	0.0026	-24	c.118 others(41): Show c.118-4846_118-4823delCACACACACATATATATATATATA		CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS1_chr4_84578127_84656334	84599403	CACATATA others(17): Show CACATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0319	1	384	0.0026	-24	c.118 others(41): Show c.118-4838_118-4815delCATATATATATATATATATATATA		CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS2_chr20_5122008_5202887	5202771	CACACACA others(17): Show CACACACACAGACACACACACACAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01081.hp1 others(15): Show HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01169.hp1 HG01358.hp2 HG01981.hp2 HG02300.hp1 HG02615.hp1 HG02735.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp2 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0043 others(2): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0043 a0001c0001t0047 a0001c0001t0082	a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0187 others(15): Show a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0187 a0001c0001t0005g0197 a0001c0001t0005g0212 a0001c0001t0005g0231 a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0259 a0001c0001t0005g0306 a0001c0001t0005g0329 a0001c0001t0008g0201 a0001c0001t0008g0210 a0001c0001t0008g0211 a0001c0001t0008g0294 a0001c0001t0043g0202 a0001c0001t0047g0230 a0001c0001t0082g0195	18	348	0.0517	-24	c.12 others(37): Show c.12538_*12561delACACACACAGACACACACACACAG		CDS2	ENSG00000101290.14	transcript	ENST00000460006.6	protein_coding					4885		chr20	TogoVar
CDYL2_chr16_80592907_80809598	80759102	CTATATAT others(17): Show CTATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0111 a0001c0004t0020g0111	1	258	0.0039	-24	c.24+ others(41): Show c.24+45024_24+45047delTATATATATATATATATATATATA		CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6						chr16	TogoVar
CDYL_chr6_4771404_4960544	4900779	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0028 a0001c0003t0004g0028	1	250	0.0040	-24	c.691 others(41): Show c.691+8428_691+8451delATATATATATATATATATATATAT		CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM18_chr19_51473539_51496301	51495389	ATGGATGG others(17): Show ATGGATGGATGGGTGGGTGGGTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03516.hp1 HG03453.hp2 HG03516.hp1	a0005 a0010 a0005 a0010	a0005c0005 a0010c0010 a0005c0005 a0010c0010	a0005c0005t0020 a0010c0010t0003 a0005c0005t0020 a0010c0010t0003	a0005c0005t0020g0053 a0010c0010t0003g0050 a0005c0005t0020g0053 a0010c0010t0003g0050	2	420	0.0048	-24	c.47 others(35): Show c.4738_*4761delTGGATGGATGGGTGGGTGGGTGGG		CEACAM18	ENSG00000213822.7	transcript	ENST00000396477.5	protein_coding					4089		chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44518103	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00558.hp1 others(60): Show HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG01109.hp2 HG01928.hp1 HG02027.hp2 HG02040.hp1 HG02293.hp2 HG02738.hp1 HG03579.hp2 HG03669.hp2 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18973.hp1 NA18975.hp2 NA18982.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19054.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19088.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0003 a0004 a0006 others(4): Show a0003 a0004 a0006 a0009 a0012 a0027 a0030	a0003c0004 a0003c0012 a0004c0003 others(5): Show a0003c0004 a0003c0012 a0004c0003 a0006c0009 a0009c0007 a0012c0016 a0027c0044 a0030c0043	a0003c0004t0001 a0003c0012t0001 a0004c0003t0001 others(5): Show a0003c0004t0001 a0003c0012t0001 a0004c0003t0001 a0006c0009t0001 a0009c0007t0001 a0012c0016t0001 a0027c0044t0001 a0030c0043t0001	a0003c0004t0001g0005 a0003c0004t0001g0006 a0003c0004t0001g0020 others(52): Show a0003c0004t0001g0005 a0003c0004t0001g0006 a0003c0004t0001g0020 a0003c0004t0001g0285 a0003c0004t0001g0301 a0003c0004t0001g0303 a0003c0004t0001g0304 a0003c0004t0001g0305 a0003c0004t0001g0306 a0003c0004t0001g0307 a0003c0004t0001g0308 a0003c0004t0001g0310 a0003c0004t0001g0311 a0003c0004t0001g0316 a0003c0004t0001g0318 a0003c0004t0001g0330 a0003c0004t0001g0331 a0003c0004t0001g0349 a0003c0004t0001g0350 a0003c0004t0001g0351 a0003c0004t0001g0356 a0003c0004t0001g0386 a0003c0012t0001g0054 a0004c0003t0001g0021 a0004c0003t0001g0290 a0004c0003t0001g0291 a0004c0003t0001g0292 a0004c0003t0001g0293 a0004c0003t0001g0302 a0004c0003t0001g0312 a0004c0003t0001g0317 a0004c0003t0001g0319 a0004c0003t0001g0321 a0004c0003t0001g0322 a0004c0003t0001g0323 a0004c0003t0001g0324 a0004c0003t0001g0325 a0004c0003t0001g0326 a0004c0003t0001g0328 a0004c0003t0001g0329 a0004c0003t0001g0332 a0004c0003t0001g0353 a0006c0009t0001g0011 a0006c0009t0001g0012 a0006c0009t0001g0160 a0006c0009t0001g0161 a0006c0009t0001g0162 a0009c0007t0001g0063 a0009c0007t0001g0065 a0012c0016t0001g0289 a0012c0016t0001g0295 a0012c0016t0001g0309 a0012c0016t0001g0314 a0027c0044t0001g0315 a0030c0043t0001g0385	63	438	0.1438	-24	c.103 others(41): Show c.1031-903_1031-880delCCTTCCTTCCTTCCTTCCTTCCTT		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11						chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44532525	GGAAAGAA others(17): Show GGAAAGAAAGGAAAGAAAGGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0381 a0004c0003t0001g0381	1	438	0.0023	-24	c.-30 others(35): Show c.-3040_-3017delTCTTTCCTTTCTTTCCTTTCTTTC		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding					2851		chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44532540	AAAGGAAA others(17): Show AAAGGAAAGAAAGGAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01891.hp2 HG03139.hp1 others(1): Show HG01081.hp2 HG01891.hp2 HG03139.hp1 HG03688.hp2	a0002 a0005 a0008 a0002 a0005 a0008	a0002c0002 a0005c0005 a0008c0006 a0002c0002 a0005c0005 a0008c0006	a0002c0002t0001 a0005c0005t0002 a0008c0006t0001 a0002c0002t0001 a0005c0005t0002 a0008c0006t0001	a0002c0002t0001g0235 a0005c0005t0002g0030 a0008c0006t0001g0007 others(1): Show a0002c0002t0001g0235 a0005c0005t0002g0030 a0008c0006t0001g0007 a0008c0006t0001g0338	4	438	0.0091	-24	c.-30 others(35): Show c.-3055_-3032delCTTTCTTTCTTCCTTTCTTTCCTT		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding					2866		chr19	TogoVar
CEACAM4_chr19_41614015_41632074	41616487	TGATAGAT others(17): Show TGATAGATAGATAGATAGATAGATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00741.hp1 HG01255.hp2 others(2): Show HG00558.hp2 HG00741.hp1 HG01255.hp2 HG01261.hp2 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0042 a0002c0003t0001g0052 a0002c0003t0001g0192 others(1): Show a0001c0001t0001g0042 a0002c0003t0001g0052 a0002c0003t0001g0192 a0002c0003t0001g0242	5	437	0.0114	-24	c.28 others(35): Show c.2819_*2842delTATCTATCTATCTATCTATCTATC		CEACAM4	ENSG00000105352.11	transcript	ENST00000221954.7	protein_coding					2527		chr19	TogoVar
CEACAM4_chr19_41614015_41632074	41626063	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp2 others(127): Show HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01361.hp1 HG01496.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18993.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0008t0001 a0004c0005t0002	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0013 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0113 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0249 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0162 a0001c0001t0003g0146 a0001c0001t0010g0143 a0001c0001t0013g0139 a0001c0002t0001g0008 a0001c0002t0001g0022 a0001c0002t0001g0046 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0159 a0001c0002t0002g0023 a0001c0002t0004g0261 a0001c0002t0006g0154 a0001c0002t0006g0157 a0001c0008t0001g0158 a0004c0005t0002g0153	130	437	0.2975	-24	c.65- others(37): Show c.65-127_65-104delACACACACACACACACACACACAC		CEACAM4	ENSG00000105352.11	transcript	ENST00000221954.7	protein_coding	1/6						chr19	TogoVar
CEACAM7_chr19_41668303_41693270	41678310	CATGTATA others(17): Show CATGTATATGTATATGTATATGTAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	412	0.0024	-24	c.707 others(39): Show c.707-831_707-808delATACATATACATATACATATACAT		CEACAM7	ENSG00000007306.15	transcript	ENST00000401731.6	protein_coding	3/4						chr19	TogoVar
CEBPD_chr8_47731913_47743164	47735084	ATGGGTGT others(17): Show ATGGGTGTGTGGGTGTGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	316	0.0032	-24	c.22 others(35): Show c.2203_*2226delCACACACACACACCCACACACCCA		CEBPD	ENSG00000221869.5	transcript	ENST00000408965.4	protein_coding					1828		chr8	TogoVar
CEBPZOS_chr2_37191496_37209743	37194875	CCCTCCCT others(17): Show CCCTCCCTTCCTTCCTTCCTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02135.hp1 HG02145.hp2 others(4): Show HG00408.hp1 HG02135.hp1 HG02145.hp2 NA18960.hp1 NA18995.hp1 NA19089.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0048 others(1): Show a0001c0001t0002 a0001c0001t0026 a0001c0001t0048 a0001c0001t0095	a0001c0001t0002g0002 a0001c0001t0026g0013 a0001c0001t0048g0002 others(1): Show a0001c0001t0002g0002 a0001c0001t0026g0013 a0001c0001t0048g0002 a0001c0001t0095g0013	7	466	0.0150	-24	c.-16 others(35): Show c.-1646_-1623delCCTCCCTTCCTTCCTTCCTTCTTT		CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding					1620		chr2	TogoVar
CEBPZOS_chr2_37191496_37209743	37194879	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCTTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG03654.hp1 NA18943.hp2 others(1): Show HG02027.hp1 HG03654.hp1 NA18943.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0006 a0001c0001t0020g0005 a0001c0001t0003g0006 a0001c0001t0020g0005	4	466	0.0086	-24	c.-16 others(35): Show c.-1642_-1619delCCTTCCTTCCTTCCTTCTTTCCTT		CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding					1616		chr2	TogoVar
CEBPZOS_chr2_37191496_37209743	37194897	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01109.hp2 others(22): Show HG00738.hp2 HG01099.hp1 HG01109.hp2 HG01884.hp1 HG01891.hp1 HG02145.hp1 HG02486.hp1 HG02647.hp1 HG02723.hp1 HG02895.hp2 HG02896.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp2 HG03927.hp1 HG04199.hp1 NA18944.hp1 NA18982.hp2 NA19011.hp2 NA19030.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0041 a0001c0001t0047 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0072	a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0003g0005 others(11): Show a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0007g0002 a0001c0001t0012g0003 a0001c0001t0012g0034 a0001c0001t0015g0003 a0001c0001t0041g0004 a0001c0001t0047g0002 a0001c0001t0050g0003 a0001c0001t0052g0003 a0001c0001t0053g0003 a0001c0001t0072g0027	25	466	0.0537	-24	c.-16 others(35): Show c.-1624_-1601delTTCCTTCCTTCCTTCCTTCCTTCC		CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding					1598		chr2	TogoVar
CEBPZOS_chr2_37191496_37209743	37202644	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 NA20300.hp1 HG02257.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0014 a0001c0001t0035g0014	2	466	0.0043	-24	c.80 others(33): Show c.809_*832delAAAAAAAAAAAAAAAAAAAAAAAA		CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding	5/5				945	INFO_REALIGN_3_PRIME	chr2	TogoVar
CEBPZ_chr2_37196612_37236596	37202644	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA20300.hp2 HG02257.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0181 a0001c0001t0001g0182	2	438	0.0046	-24	c.302 others(41): Show c.3025+116_3025+139delTTTTTTTTTTTTTTTTTTTTTTTT		CEBPZ	ENSG00000115816.15	transcript	ENST00000234170.10	protein_coding	15/15						chr2	TogoVar
CECR2_chr22_17364460_17563151	17460658	ACAAGTCT others(17): Show ACAAGTCTTAGATTGTATGGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02055.hp2 HG02258.hp2 others(11): Show HG01255.hp2 HG02055.hp2 HG02258.hp2 HG02559.hp1 HG02886.hp1 HG02922.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 NA18906.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 others(10): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0001t0035 a0001c0001t0039 a0001c0001t0057 a0001c0001t0060 a0001c0001t0061 a0001c0001t0073 a0001c0008t0083 a0002c0002t0043 a0002c0002t0055	a0001c0001t0002g0178 a0001c0001t0010g0314 a0001c0001t0012g0098 others(11): Show a0001c0001t0002g0178 a0001c0001t0010g0314 a0001c0001t0012g0098 a0001c0001t0019g0159 a0001c0001t0019g0285 a0001c0001t0035g0324 a0001c0001t0039g0278 a0001c0001t0057g0245 a0001c0001t0060g0263 a0001c0001t0061g0289 a0001c0001t0073g0158 a0001c0008t0083g0047 a0002c0002t0043g0007 a0002c0002t0055g0039	14	324	0.0432	-24	c.127 others(43): Show c.127-16928_127-16905delAAGTCTTAGATTGTATGGAGAGTC		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
CELA2A_chr1_15451732_15477091	15458908	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(136): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG03017.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19065.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0006c0011	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0006c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0102 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0004t0001g0154 a0001c0004t0001g0155 a0001c0004t0001g0157 a0001c0006t0001g0001 a0001c0006t0001g0003 a0006c0011t0001g0002	139	430	0.3233	-24	c.129 others(41): Show c.129+1760_129+1783delAAAAAAAAAAAAAAAAAAAAAAAA		CELA2A	ENSG00000142615.8	transcript	ENST00000359621.5	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
CELF1_chr11_47460937_47558132	47481081	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTCTTCTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	340	0.0029	-24	c.768 others(41): Show c.768+1590_768+1613delAAAGAAGAAGAAAAAAAAAAAAAA		CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	9/14						chr11	TogoVar
CELF2_chr10_11012872_11341675	11015897	TGTTAATG others(17): Show TGTTAATGAAACATGTTCTACCTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03471.hp2 HG02257.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0036 a0001c0001t0022 a0001c0001t0036	a0001c0001t0022g0022 a0001c0001t0036g0016 a0001c0001t0022g0022 a0001c0001t0036g0016	2	194	0.0103	-24	c.-21 others(35): Show c.-2192_-2169delGTTAATGAAACATGTTCTACCTTA		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding					1974		chr10	TogoVar
CELF2_chr10_11012872_11341675	11202929	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0055 a0001c0002t0009g0055	1	194	0.0052	-24	c.272 others(43): Show c.272-14494_272-14471delCTCTCTCTCTCTCTCTCTCTCTGT		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11202931	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01978.hp1 HG02896.hp2 others(1): Show HG00280.hp2 HG01978.hp1 HG02896.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0011 a0001c0002t0001 others(1): Show a0001c0001t0005 a0001c0001t0011 a0001c0002t0001 a0001c0002t0018	a0001c0001t0005g0044 a0001c0001t0011g0080 a0001c0002t0001g0014 others(1): Show a0001c0001t0005g0044 a0001c0001t0011g0080 a0001c0002t0001g0014 a0001c0002t0018g0135	4	194	0.0206	-24	c.272 others(43): Show c.272-14492_272-14469delCTCTCTCTCTCTCTCTCTCTGTGT		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11285826	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 HG03453.hp2 HG02451.hp1 HG03041.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0007 a0001c0003t0004 a0001c0003t0005 a0001c0002t0007 a0001c0003t0004 a0001c0003t0005	a0001c0002t0007g0058 a0001c0003t0004g0024 a0001c0003t0005g0009 a0001c0002t0007g0058 a0001c0003t0004g0024 a0001c0003t0005g0009	3	194	0.0155	-24	c.842 others(41): Show c.842-2563_842-2540delGTGTGTGTGTGTGTGTGTGTGTGT		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF3_chr1_151695058_151721803	151696506	GTTCTTTC others(17): Show GTTCTTTCGTTCTTTCGTTCTTTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	432	0.0023	-24	c.69 others(35): Show c.6929_*6952delAGAAAGAACGAAAGAACGAAAGAA		CELF3	ENSG00000159409.15	transcript	ENST00000290583.9	protein_coding					3551		chr1	TogoVar
CELF4_chr18_37238040_37570798	37470866	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGAC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0049 a0001c0001t0024g0049	1	184	0.0054	-24	c.369 others(43): Show c.369+14635_369+14658delGTCACACACACACACACACACACA		CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12						chr18	TogoVar
CELF5_chr19_3219661_3302076	3219668	AGCTCACA others(17): Show AGCTCACAGCCTCACTATTCTCCGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0252 a0001c0010t0005g0252	1	262	0.0038	-24	c.-50 others(35): Show c.-5071_-5048delGCTCACAGCCTCACTATTCTCCGT		CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding					4992		chr19	TogoVar
CELF5_chr19_3219661_3302076	3219692	TGCTCACA others(17): Show TGCTCACAGCCTCGCTATTCTCCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	262	0.0038	-24	c.-50 others(35): Show c.-5047_-5024delGCTCACAGCCTCGCTATTCTCCAG		CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding					4968		chr19	TogoVar
CELF5_chr19_3219661_3302076	3248889	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	262	0.0038	-24	c.260 others(41): Show c.260-2092_260-2069delCCTTCCTTCCTTCCTTTCTTTCTT		CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3299509	CTCCTCCT others(17): Show CTCCTCCTCTTCTTCTTCTTCTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03453.hp2 HG02055.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0007 a0001c0001t0001 a0001c0005t0007	a0001c0001t0001g0157 a0001c0005t0007g0045 a0001c0001t0001g0157 a0001c0005t0007g0045	2	262	0.0076	-24	c.27 others(35): Show c.2793_*2816delTCCTCCTCTTCTTCTTCTTCTTCT		CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding					2434		chr19	TogoVar
CEMIP_chr15_80774370_80956771	80836623	ATTTTCTG others(17): Show ATTTTCTGCCTCCTTACCTCCTGGG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03139.hp1 NA19043.hp1 others(2): Show HG02895.hp2 HG03139.hp1 NA19043.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0001c0024	a0001c0001t0001 a0001c0002t0010 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0002t0010 a0001c0014t0001 a0001c0024t0005	a0001c0001t0001g0003 a0001c0001t0001g0100 a0001c0002t0010g0093 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0100 a0001c0002t0010g0093 a0001c0014t0001g0074 a0001c0024t0005g0120	5	254	0.0197	-24	c.-17 others(45): Show c.-175-36881_-175-36858delTCCTTACCTCCTGGGTTTTCTGCC		CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80848953	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02572.hp2 HG02615.hp1 HG01255.hp1 HG02572.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0022 a0001c0001t0001 a0001c0001t0005 a0001c0001t0022	a0001c0001t0001g0201 a0001c0001t0005g0138 a0001c0001t0022g0107 a0001c0001t0001g0201 a0001c0001t0005g0138 a0001c0001t0022g0107	3	254	0.0118	-24	c.-17 others(45): Show c.-175-24556_-175-24533delTTTTTTTTTTTTTTTTTTTTTTTT		CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80900585	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0002 a0006c0018t0002	a0006c0018t0002g0226 a0006c0018t0002g0226	1	254	0.0039	-24	c.141 others(43): Show c.1411+4566_1411+4589delGTGTGTGTGTGTGTGTGTGTGTGT		CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29					INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80900638	GTGTGTGT others(17): Show GTGTGTGTGTGTCTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	254	0.0039	-24	c.141 others(43): Show c.1411+4590_1411+4613delCTGTGTGTGTGTCTGTGTGTGTGT		CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29					INFO_REALIGN_3_PRIME	chr15	TogoVar
CENPC_chr4_67463762_67550503	67548893	AAATATTT others(17): Show AAATATTTCATAGAAAAATGATGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0030	1	338	0.0030	-24	c.-35 others(35): Show c.-3562_-3539delCCCATCATTTTTCTATGAAATATT		CENPC	ENSG00000145241.11	transcript	ENST00000273853.11	protein_coding					3391		chr4	TogoVar
CENPE_chr4_103100811_103203343	103113130	ATATATAC others(17): Show ATATATACTTATAAGTATATAAGTG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02647.hp2 HG02896.hp2 others(1): Show HG01175.hp1 HG02647.hp2 HG02896.hp2 HG02897.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0009 a0007c0010t0001g0306 a0007c0010t0001g0307 a0007c0010t0001g0009 a0007c0010t0001g0306 a0007c0010t0001g0307	4	320	0.0125	-24	c.754 others(43): Show c.7540+1301_7540+1324delCACTTATATACTTATAAGTATATA		CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48						chr4	TogoVar
CENPF_chr1_214598195_214669571	214616835	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01257.hp1 others(31): Show HG00140.hp2 HG01074.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01993.hp2 HG02055.hp2 HG02135.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03492.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 NA18906.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18957.hp2 NA18990.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0015 a0018 a0019 a0027 a0038 a0041 a0044 a0047	a0001c0001 a0001c0011 a0002c0002 others(15): Show a0001c0001 a0001c0011 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0007 a0008c0006 a0010c0008 a0011c0018 a0015c0019 a0018c0020 a0019c0025 a0027c0038 a0038c0051 a0041c0048 a0044c0045 a0047c0056	a0001c0001t0001 a0001c0011t0001 a0002c0002t0001 others(15): Show a0001c0001t0001 a0001c0011t0001 a0002c0002t0001 a0003c0003t0002 a0004c0004t0002 a0005c0005t0003 a0006c0007t0002 a0008c0006t0001 a0010c0008t0001 a0011c0018t0002 a0015c0019t0001 a0018c0020t0006 a0019c0025t0002 a0027c0038t0001 a0038c0051t0001 a0041c0048t0002 a0044c0045t0003 a0047c0056t0002	a0001c0001t0001g0088 a0001c0001t0001g0135 a0001c0001t0001g0137 others(28): Show a0001c0001t0001g0088 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0011t0001g0136 a0002c0002t0001g0004 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0190 a0003c0003t0002g0008 a0003c0003t0002g0060 a0003c0003t0002g0066 a0003c0003t0002g0072 a0004c0004t0002g0219 a0004c0004t0002g0224 a0005c0005t0003g0251 a0006c0007t0002g0036 a0008c0006t0001g0104 a0010c0008t0001g0004 a0010c0008t0001g0077 a0011c0018t0002g0225 a0015c0019t0001g0080 a0015c0019t0001g0081 a0018c0020t0006g0214 a0019c0025t0002g0236 a0027c0038t0001g0138 a0038c0051t0001g0205 a0041c0048t0002g0223 a0044c0045t0003g0240 a0047c0056t0002g0026	34	282	0.1206	-24	c.360 others(41): Show c.360-1673_360-1650delTCTTTCTTTCTTTCTTTCTTTCTT		CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CENPK_chr5_65512766_65568168	65527498	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG01069.hp1 others(37): Show HG00408.hp2 HG00609.hp2 HG01069.hp1 HG01071.hp1 HG01168.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01934.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG03195.hp1 HG03669.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA18942.hp2 NA18947.hp2 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18961.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA19002.hp2 NA19010.hp1 NA19057.hp1 NA19058.hp2 NA19081.hp1 NA19086.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0002c0005t0003 a0001c0001t0001 a0001c0001t0003 a0002c0005t0003	a0001c0001t0001g0127 a0001c0001t0001g0157 a0001c0001t0001g0168 others(28): Show a0001c0001t0001g0127 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0002c0005t0003g0039	40	374	0.1070	-24	c.597 others(39): Show c.597+930_597+953delATATATATATATATATATATATAT		CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding	9/10						chr5	TogoVar
CENPM_chr22_41933737_41952152	41934544	ACCACGTC others(17): Show ACCACGTCATGACCATGGCCACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0189 a0001c0002t0004g0189	1	258	0.0039	-24	c.44 others(35): Show c.4488_*4511delAGGGTGGCCATGGTCATGACGTGG		CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding					4192		chr22	TogoVar
CENPT_chr16_67823157_67852693	67841010	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	266	0.0038	-24	c.-49 others(43): Show c.-491-5376_-491-5353delATATATATATATATATATATATAT		CENPT	ENSG00000102901.13	transcript	ENST00000562787.6	protein_coding	1/15						chr16	TogoVar
CENPVL1_chrX_51705512_51717131	51707495	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 NA18973.hp2 NA19005.hp1 others(1): Show HG01515.hp1 NA18973.hp2 NA19005.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	238	0.0168	-24	c.-30 others(35): Show c.-3016_-2993delACACACACACACACACACACACAC		CENPVL1	ENSG00000223591.5	transcript	ENST00000602548.2	protein_coding					3016		chrX	TogoVar
CEP104_chr1_3807086_3862211	3832394	GTGACCAG others(17): Show GTGACCAGGAGTGTAGCGTAGGTCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp1 others(157): Show HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02622.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19081.hp1 NA19083.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0018	a0001c0001 a0001c0006 a0002c0002 others(6): Show a0001c0001 a0001c0006 a0002c0002 a0002c0005 a0002c0012 a0003c0003 a0007c0011 a0008c0013 a0018c0010	a0001c0001t0005 a0001c0001t0020 a0001c0001t0038 others(15): Show a0001c0001t0005 a0001c0001t0020 a0001c0001t0038 a0001c0001t0040 a0001c0006t0006 a0002c0002t0001 a0002c0002t0011 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0005t0001 a0002c0012t0001 a0003c0003t0014 a0003c0003t0016 a0007c0011t0001 a0008c0013t0001 a0018c0010t0006	a0001c0001t0005g0029 a0001c0001t0005g0291 a0001c0001t0005g0292 others(128): Show a0001c0001t0005g0029 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0020g0286 a0001c0001t0020g0287 a0001c0001t0038g0288 a0001c0001t0040g0315 a0001c0006t0006g0124 a0001c0006t0006g0126 a0001c0006t0006g0127 a0001c0006t0006g0128 a0001c0006t0006g0129 a0001c0006t0006g0130 a0001c0006t0006g0131 a0001c0006t0006g0132 a0001c0006t0006g0133 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0011g0134 a0002c0002t0011g0135 a0002c0002t0011g0136 a0002c0002t0022g0084 a0002c0002t0023g0091 a0002c0002t0024g0115 a0002c0002t0025g0076 a0002c0005t0001g0005 a0002c0005t0001g0018 a0002c0005t0001g0033 a0002c0005t0001g0034 a0002c0005t0001g0038 a0002c0005t0001g0040 a0002c0005t0001g0045 a0002c0005t0001g0069 a0002c0005t0001g0070 a0002c0005t0001g0107 a0002c0005t0001g0111 a0002c0012t0001g0043 a0003c0003t0014g0137 a0003c0003t0014g0138 a0003c0003t0016g0230 a0003c0003t0016g0231 a0007c0011t0001g0049 a0008c0013t0001g0055 a0018c0010t0006g0125	160	382	0.4189	-24	c.166 others(43): Show c.1660-1196_1660-1173delGGACCTACGCTACACTCCTGGTCA		CEP104	ENSG00000116198.14	transcript	ENST00000378230.8	protein_coding	12/21						chr1	TogoVar
CEP112_chr17_65630537_66197133	65660460	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01891.hp1 HG02027.hp1 others(15): Show HG01346.hp2 HG01891.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp2 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03831.hp2 NA18983.hp2 NA18986.hp1 NA19002.hp2 NA19063.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0002c0007 a0003c0005 a0004c0006	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(5): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0002c0001t0001 a0002c0001t0003 a0002c0007t0001 a0003c0005t0001 a0004c0006t0001	a0001c0002t0001g0021 a0001c0002t0001g0035 a0001c0002t0001g0046 others(15): Show a0001c0002t0001g0021 a0001c0002t0001g0035 a0001c0002t0001g0046 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0084 a0001c0003t0001g0006 a0001c0003t0001g0062 a0001c0003t0002g0109 a0002c0001t0001g0013 a0002c0001t0001g0015 a0002c0001t0001g0045 a0002c0001t0001g0065 a0002c0001t0003g0008 a0002c0001t0003g0019 a0002c0007t0001g0108 a0003c0005t0001g0048 a0004c0006t0001g0022	18	112	0.1607	-24	c.269 others(45): Show c.2698-19419_2698-19396delAGGAAGGAAGGAAGGAAGGAAGGA		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	24/26						chr17	TogoVar

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