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
CWC27_chr5_64763930_65023750	64912081	AAAAAAAA others(4): Show AAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0085 a0001c0003t0002g0085	1	260	0.0039	-11	c.104 others(32): Show c.1042+26539_1042+26549delAAAAAAAGAAA		CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr5	TogoVar
CWC27_chr5_64763930_65023750	64937921	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0074 a0002c0006t0002g0074	1	260	0.0039	-11	c.104 others(32): Show c.1043-33773_1043-33763delTTTTTTTTTTT		CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr5	TogoVar
CWF19L1_chr10_100227298_100272638	100241000	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00621.hp1 others(14): Show HG00544.hp1 HG00597.hp1 HG00621.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18943.hp1 NA18952.hp2 NA18961.hp1 NA18963.hp1 NA18972.hp2 NA18991.hp1 NA19004.hp1 NA19065.hp1 NA19066.hp2 NA19084.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0009 a0002c0003t0003g0026 a0002c0003t0003g0282 others(11): Show a0002c0003t0003g0009 a0002c0003t0003g0026 a0002c0003t0003g0282 a0002c0003t0003g0284 a0002c0003t0003g0285 a0002c0003t0003g0286 a0002c0003t0003g0287 a0002c0003t0003g0288 a0002c0003t0003g0290 a0002c0003t0003g0295 a0002c0003t0003g0296 a0002c0003t0003g0297 a0002c0003t0003g0298 a0002c0003t0003g0312	17	364	0.0467	-11	c.104 others(30): Show c.1044+2687_1044+2697delAAAAAAAAAAA		CWF19L1	ENSG00000095485.18	transcript	ENST00000354105.10	protein_coding	10/13						chr10	TogoVar
CWF19L2_chr11_107321360_107462825	107387463	AAAACAAA others(4): Show AAAACAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03225.hp1 HG02922.hp1 HG03225.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0002 a0010c0008t0002	a0010c0008t0002g0359 a0010c0008t0002g0360 a0010c0008t0002g0359 a0010c0008t0002g0360	2	392	0.0051	-11	c.187 others(30): Show c.1872+2600_1872+2610delGTTTTTTGTTT		CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	12/17						chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107434672	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG00738.hp1 others(31): Show HG00639.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01168.hp2 HG01169.hp1 HG01346.hp2 HG01433.hp1 HG01516.hp2 HG01884.hp2 HG01943.hp2 HG02055.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 NA19030.hp2 NA19043.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0004 a0006 a0010 a0004 a0006 a0010	a0004c0004 a0006c0006 a0010c0008 a0004c0004 a0006c0006 a0010c0008	a0004c0004t0001 a0004c0004t0002 a0006c0006t0003 others(1): Show a0004c0004t0001 a0004c0004t0002 a0006c0006t0003 a0010c0008t0002	a0004c0004t0001g0349 a0004c0004t0001g0350 a0004c0004t0001g0351 others(30): Show a0004c0004t0001g0349 a0004c0004t0001g0350 a0004c0004t0001g0351 a0004c0004t0002g0325 a0004c0004t0002g0326 a0004c0004t0002g0327 a0004c0004t0002g0328 a0004c0004t0002g0329 a0004c0004t0002g0330 a0004c0004t0002g0331 a0004c0004t0002g0332 a0004c0004t0002g0333 a0004c0004t0002g0334 a0004c0004t0002g0335 a0004c0004t0002g0336 a0004c0004t0002g0337 a0004c0004t0002g0338 a0004c0004t0002g0339 a0004c0004t0002g0340 a0004c0004t0002g0341 a0004c0004t0002g0342 a0004c0004t0002g0343 a0004c0004t0002g0344 a0004c0004t0002g0345 a0004c0004t0002g0346 a0004c0004t0002g0347 a0004c0004t0002g0348 a0006c0006t0003g0004 a0006c0006t0003g0315 a0006c0006t0003g0316 a0006c0006t0003g0317 a0010c0008t0002g0359 a0010c0008t0002g0360	34	392	0.0867	-11	c.665 others(26): Show c.665-934_665-924delTTTTTTTTTTT		CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	6/17						chr11	TogoVar
CXADR_chr21_17508043_17575100	17553614	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02572.hp2 others(5): Show HG01884.hp2 HG02280.hp2 HG02572.hp2 HG02622.hp1 HG03041.hp2 HG03139.hp2 HG03471.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0011 a0001c0004t0011 a0001c0004t0040 others(1): Show a0001c0002t0011 a0001c0004t0011 a0001c0004t0040 a0001c0004t0069	a0001c0002t0011g0107 a0001c0004t0011g0038 a0001c0004t0011g0080 others(5): Show a0001c0002t0011g0107 a0001c0004t0011g0038 a0001c0004t0011g0080 a0001c0004t0011g0188 a0001c0004t0011g0195 a0001c0004t0011g0197 a0001c0004t0040g0319 a0001c0004t0069g0305	8	352	0.0227	-11	c.415 others(28): Show c.415+1670_415+1680delTTTTTTTTTTT		CXADR	ENSG00000154639.19	transcript	ENST00000284878.12	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr21	TogoVar
CXCL17_chr19_42423278_42447946	42442229	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp2 HG02109.hp1 others(28): Show HG01243.hp2 HG01261.hp2 HG02109.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0010 a0001c0001t0003g0019 a0001c0001t0003g0030 others(19): Show a0001c0001t0003g0010 a0001c0001t0003g0019 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236	31	368	0.0842	-11	c.79+ others(24): Show c.79+514_79+524delAAAAAAAAAAA		CXCL17	ENSG00000189377.9	transcript	ENST00000601181.6	protein_coding	1/3						chr19	TogoVar
CXCL6_chr4_73831678_73843760	73843324	AAAACATC others(4): Show AAAACATCGTAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	-11	c.56 others(22): Show c.5684_*5694delAAACATCGTAC		CXCL6	ENSG00000124875.10	transcript	ENST00000226317.10	protein_coding					4565		chr4	TogoVar
CXorf38_chrX_40621921_40652561	40645930	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0173 a0001c0002t0012g0173	1	304	0.0033	-11	c.351 others(28): Show c.351+1066_351+1076delAAAAAAAAAAA		CXorf38	ENSG00000185753.13	transcript	ENST00000327877.10	protein_coding	2/6						chrX	TogoVar
CXorf49_chrX_71709371_71723285	71710105	AAAAAAGA others(4): Show AAAAAAGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0010 a0004c0007t0001g0010	1	73	0.0137	-11	c.44 others(22): Show c.4430_*4440delCTTTTCTTTTT		CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding					4265		chrX	TogoVar
CXorf58_chrX_23903006_23944509	23925776	CTTTTCTT others(4): Show CTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	295	0.0034	-11	c.424 others(28): Show c.424-1458_424-1448delCTTTTCTTTTT		CXorf58	ENSG00000165182.12	transcript	ENST00000379211.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
CXorf58_chrX_23903006_23944509	23925786	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	295	0.0034	-11	c.424 others(28): Show c.424-1443_424-1433delTTTTTTTTTTT		CXorf58	ENSG00000165182.12	transcript	ENST00000379211.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
CXorf66_chrX_139950728_139970521	139965664	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	298	0.0034	-11	c.-17 others(20): Show c.-179_-169delAAAAAAAAAAA		CXorf66	ENSG00000203933.3	transcript	ENST00000370540.2	protein_coding					144		chrX	TogoVar
CYB561_chr17_63427304_63451306	63429070	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	386	0.0026	-11	c.53 others(22): Show c.5321_*5331delAAAAAAAAAAA		CYB561	ENSG00000008283.16	transcript	ENST00000360793.8	protein_coding					3233		chr17	TogoVar
CYB5B_chr16_69419619_69471264	69443147	GCTGGTCT others(4): Show GCTGGTCTCAAA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0268 a0001c0001t0034g0268	1	406	0.0025	-11	c.175 others(28): Show c.175-4000_175-3990delGGTCTCAAACT		CYB5B	ENSG00000103018.18	transcript	ENST00000307892.13	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
CYB5R1_chr1_202956873_202972257	202961050	CTGGAGGT others(4): Show CTGGAGGTGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	450	0.0022	-11	c.14 others(22): Show c.1466_*1476delCCTCACCTCCA		CYB5R1	ENSG00000159348.13	transcript	ENST00000367249.9	protein_coding					822		chr1	TogoVar
CYB5R4_chr6_83854689_83972423	83971354	ACTGCAAC others(4): Show ACTGCAACCTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02895.hp1 NA18522.hp2 HG01109.hp2 HG02895.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0013g0089 a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0013g0089	3	228	0.0132	-11	c.11 others(24): Show c.11477_*11487delCTGCAACCTCT		CYB5R4	ENSG00000065615.14	transcript	ENST00000369681.10	protein_coding					3932		chr6	TogoVar
CYBRD1_chr2_171517474_171563129	171545138	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01081.hp1 HG00280.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0089 a0001c0001t0002g0091	2	394	0.0051	-11	c.402 others(28): Show c.402+3354_402+3364delAAAAAAAAAAA		CYBRD1	ENSG00000071967.12	transcript	ENST00000321348.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
CYFIP1_chr15_22862052_22985368	22962258	CAAAGACG others(4): Show CAAAGACGTGCG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0009 a0002c0037t0009	a0002c0037t0009g0315 a0002c0037t0009g0315	1	342	0.0029	-11	c.-6- others(28): Show c.-6-14978_-6-14968delCGCACGTCTTT		CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30						chr15	TogoVar
CYFIP1_chr15_22862052_22985368	22964397	ACACACAC others(4): Show ACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0018 a0002c0003t0008g0018	1	342	0.0029	-11	c.-7+ others(28): Show c.-7+15879_-7+15889delGTGTGTGTGTG		CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30						chr15	TogoVar
CYFIP1_chr15_22862052_22985368	22978352	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00733.hp2 others(33): Show HG00280.hp2 HG00408.hp1 HG00733.hp2 HG01884.hp1 HG02015.hp2 HG02071.hp1 HG02129.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02630.hp2 HG02895.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG04199.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18947.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18971.hp2 NA18992.hp2 NA19012.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19077.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013 a0002c0003 a0002c0004 a0002c0009 a0002c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0046 a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 a0001c0002t0012 a0001c0002t0028 a0001c0002t0029 a0001c0005t0003 a0001c0013t0033 a0002c0003t0015 a0002c0003t0018 a0002c0004t0005 a0002c0004t0006 a0002c0004t0007 a0002c0004t0008 a0002c0009t0008 a0002c0009t0009 a0002c0009t0020 a0002c0009t0036 a0002c0037t0009	a0001c0001t0001g0144 a0001c0001t0001g0249 a0001c0001t0001g0251 others(33): Show a0001c0001t0001g0144 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0002g0067 a0001c0001t0002g0255 a0001c0001t0004g0147 a0001c0001t0004g0242 a0001c0001t0004g0247 a0001c0001t0004g0256 a0001c0001t0046g0244 a0001c0002t0001g0246 a0001c0002t0001g0313 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0243 a0001c0002t0003g0248 a0001c0002t0003g0312 a0001c0002t0003g0314 a0001c0002t0010g0299 a0001c0002t0012g0150 a0001c0002t0012g0300 a0001c0002t0028g0250 a0001c0002t0029g0146 a0001c0005t0003g0145 a0001c0013t0033g0245 a0002c0003t0015g0301 a0002c0003t0018g0252 a0002c0004t0005g0302 a0002c0004t0006g0260 a0002c0004t0007g0303 a0002c0004t0008g0306 a0002c0009t0008g0092 a0002c0009t0009g0254 a0002c0009t0020g0305 a0002c0009t0036g0253 a0002c0037t0009g0315	36	342	0.1053	-11	c.-7+ others(26): Show c.-7+1924_-7+1934delTTTTTTTTTTT		CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30						chr15	TogoVar
CYFIP1_chr15_22862052_22985368	22980317	CGGGCCCT others(4): Show CGGGCCCTGGGA	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0001 a0001c0002t0027g0001	1	342	0.0029	-11	c.-48 others(18): Show c.-48_-38delTCCCAGGGCCC		CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/31				33033		chr15	TogoVar
CYFIP2_chr5_157261123_157400594	157292885	ATAAAATT others(4): Show ATAAAATTCTAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01943.hp1 others(2): Show HG01109.hp1 HG01243.hp2 HG01943.hp1 HG02486.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0005t0015 others(1): Show a0001c0002t0001 a0001c0005t0001 a0001c0005t0015 a0001c0005t0016	a0001c0002t0001g0057 a0001c0002t0001g0304 a0001c0005t0001g0315 others(2): Show a0001c0002t0001g0057 a0001c0002t0001g0304 a0001c0005t0001g0315 a0001c0005t0015g0100 a0001c0005t0016g0099	5	326	0.0153	-11	c.208 others(28): Show c.208-1897_208-1887delTAAAATTCTAT		CYFIP2	ENSG00000055163.21	transcript	ENST00000620254.5	protein_coding	3/30						chr5	TogoVar
CYP11A1_chr15_74332762_74372646	74352264	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18959.hp2 HG02071.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0123 a0001c0001t0001g0130	2	380	0.0053	-11	c.270 others(28): Show c.270-4220_270-4210delAAAAAAAAAAA		CYP11A1	ENSG00000140459.18	transcript	ENST00000268053.11	protein_coding	1/8						chr15	TogoVar
CYP1A1_chr15_74714542_74730528	74715148	TATATATA others(4): Show TATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0005 a0003c0003t0001g0005	1	434	0.0023	-11	c.53 others(22): Show c.5330_*5340delTATATATATAT		CYP1A1	ENSG00000140465.15	transcript	ENST00000379727.8	protein_coding					4393		chr15	TogoVar
CYP20A1_chr2_203234018_203311026	203238420	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0027 a0003c0003t0009g0027	1	334	0.0030	-11	c.-64 others(20): Show c.-642_-632delTTTTTTTTTTT		CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding					597		chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203271067	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0132 a0002c0002t0132	a0002c0002t0132g0272 a0002c0002t0132g0272	1	334	0.0030	-11	c.601 others(28): Show c.601-1602_601-1592delATATATATATA		CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	5/12						chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203271069	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00733.hp2 others(7): Show HG00099.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01192.hp2 HG01496.hp1 HG01515.hp2 HG03492.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0005 a0002c0002t0051 others(3): Show a0002c0002t0003 a0002c0002t0005 a0002c0002t0051 a0002c0002t0128 a0002c0002t0129 a0002c0002t0130	a0002c0002t0003g0259 a0002c0002t0003g0261 a0002c0002t0003g0264 others(7): Show a0002c0002t0003g0259 a0002c0002t0003g0261 a0002c0002t0003g0264 a0002c0002t0005g0212 a0002c0002t0005g0267 a0002c0002t0005g0269 a0002c0002t0051g0191 a0002c0002t0128g0215 a0002c0002t0129g0208 a0002c0002t0130g0216	10	334	0.0299	-11	c.601 others(28): Show c.601-1600_601-1590delATATATATATA		CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	5/12						chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203301914	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0135 a0003c0003t0135	a0003c0003t0135g0322 a0003c0003t0135g0322	1	334	0.0030	-11	c.50 others(22): Show c.5018_*5028delTTTTTTTTTTT		CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	13/13				5018	INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP21A2_chr6_32033415_32046644	32039385	GGCCATTG others(4): Show GGCCATTGAGGA	G G	frameshift_variant frameshift_variant	HIGH	NA19058.hp2 NA19058.hp2	a0030 a0030	a0030c0035 a0030c0035	a0030c0035t0001 a0030c0035t0001	a0030c0035t0001g0001 a0030c0035t0001g0001	1	459	0.0022	-11	c.479 others(18): Show c.479_489delCCATTGAGGAG	p.Ala others(5): Show p.Ala160fs	CYP21A2	ENSG00000231852.9	transcript	ENST00000644719.2	protein_coding	4/10	487/2006	479/1488	160/495		INFO_REALIGN_3_PRIME	chr6	TogoVar
CYP24A1_chr20_54148446_54178986	54154939	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02273.hp2 HG02738.hp2 others(1): Show HG02148.hp2 HG02273.hp2 HG02738.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0019 a0001c0003t0001 a0001c0004t0019	a0001c0003t0001g0167 a0001c0003t0001g0182 a0001c0003t0001g0232 others(1): Show a0001c0003t0001g0167 a0001c0003t0001g0182 a0001c0003t0001g0232 a0001c0004t0019g0365	4	456	0.0088	-11	c.11 others(26): Show c.11-189_*11-179delTTTTTTTTTTT		CYP24A1	ENSG00000019186.10	transcript	ENST00000216862.8	protein_coding	11/11						chr20	TogoVar
CYP24A1_chr20_54148446_54178986	54158545	TGTTTTCC others(4): Show TGTTTTCCCAAA	T T	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0361 a0001c0004t0001g0361	1	456	0.0022	-11	c.115 others(28): Show c.1158-392_1158-382delTTTGGGAAAAC		CYP24A1	ENSG00000019186.10	transcript	ENST00000216862.8	protein_coding	8/11						chr20	TogoVar
CYP24A1_chr20_54148446_54178986	54162220	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(18): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00642.hp2 HG00733.hp1 HG01081.hp1 HG01256.hp1 HG01496.hp1 HG01496.hp2 HG02818.hp2 HG03017.hp2 HG03491.hp1 HG03654.hp1 HG03831.hp1 HG04115.hp2 HG04228.hp2 NA18522.hp2 NA18939.hp2 NA18951.hp1 NA18954.hp1 NA19081.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0013 a0014c0022	a0001c0001t0005 a0001c0002t0003 a0001c0002t0005 others(6): Show a0001c0001t0005 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0004t0001 a0001c0006t0002 a0001c0007t0002 a0001c0013t0015 a0014c0022t0001	a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0222 others(12): Show a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0222 a0001c0002t0003g0290 a0001c0002t0005g0038 a0001c0002t0005g0219 a0001c0002t0010g0348 a0001c0004t0001g0228 a0001c0004t0001g0366 a0001c0006t0002g0223 a0001c0006t0002g0261 a0001c0007t0002g0154 a0001c0007t0002g0155 a0001c0013t0015g0017 a0014c0022t0001g0098	21	456	0.0461	-11	c.990 others(26): Show c.990+486_990+496delAAAAAAAAAAA		CYP24A1	ENSG00000019186.10	transcript	ENST00000216862.8	protein_coding	7/11						chr20	TogoVar
CYP27A1_chr2_218777147_218820293	218778348	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03540.hp1 HG03704.hp2 HG02622.hp1 HG03540.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0014 a0001c0001t0001g0087 a0001c0001t0001g0089	3	298	0.0101	-11	c.-38 others(22): Show c.-3834_-3824delTTTTTTTTTTT		CYP27A1	ENSG00000135929.9	transcript	ENST00000258415.9	protein_coding					3798		chr2	TogoVar
CYP27C1_chr2_127178832_127225299	127180042	CACCAAAG others(4): Show CACCAAAGAACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0195 a0001c0001t0005g0195	1	352	0.0028	-11	c.72 others(22): Show c.7218_*7228delAGTTCTTTGGT		CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding					3789		chr2	TogoVar
CYP27C1_chr2_127178832_127225299	127186245	TTTATTTA others(4): Show TTTATTTATTTA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02896.hp1 HG06807.hp2 HG02109.hp1 HG02896.hp1 HG06807.hp2	a0003 a0008 a0003 a0008	a0003c0006 a0008c0015 a0003c0006 a0008c0015	a0003c0006t0017 a0008c0015t0017 a0003c0006t0017 a0008c0015t0017	a0003c0006t0017g0010 a0003c0006t0017g0012 a0008c0015t0017g0344 a0003c0006t0017g0010 a0003c0006t0017g0012 a0008c0015t0017g0344	3	352	0.0085	-11	c.10 others(22): Show c.1015_*1025delTAAATAAATAA		CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding	9/9				1015		chr2	TogoVar
CYP27C1_chr2_127178832_127225299	127190329	CTCTTTTT others(4): Show CTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02809.hp2 others(1): Show HG01884.hp1 HG01891.hp1 HG02809.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0057 a0001c0002t0009g0064 a0001c0002t0009g0081 others(1): Show a0001c0002t0009g0057 a0001c0002t0009g0064 a0001c0002t0009g0081 a0001c0002t0009g0086	4	352	0.0114	-11	c.149 others(30): Show c.1497+2754_1497+2764delAAAAAAAAAGA		CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding	8/8						chr2	TogoVar
CYP27C1_chr2_127178832_127225299	127204456	GAAAGAAA others(4): Show GAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18948.hp2 HG00558.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0261 a0001c0001t0001g0262	2	352	0.0057	-11	c.474 others(26): Show c.474-896_474-886delTTTCTTTCTTT		CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding	2/8						chr2	TogoVar
CYP27C1_chr2_127178832_127225299	127204530	AAAGAAAG others(4): Show AAAGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	352	0.0028	-11	c.474 others(26): Show c.474-970_474-960delCTCTCTTTCTT		CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding	2/8						chr2	TogoVar
CYP2C19_chr10_94757681_94860547	94857943	ACTGGGAA others(4): Show ACTGGGAAGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	364	0.0028	-11	c.50 others(22): Show c.5030_*5040delCTGGGAAGTGT		CYP2C19	ENSG00000165841.11	transcript	ENST00000371321.9	protein_coding					2397		chr10	TogoVar
CYP2C8_chr10_95031772_95074497	95069043	ATAGAGCG others(4): Show ATAGAGCGAGAC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18522.hp2 HG02717.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0190 a0001c0001t0001g0191	2	376	0.0053	-11	c.168 others(26): Show c.168+181_168+191delGTCTCGCTCTA		CYP2C8	ENSG00000138115.15	transcript	ENST00000371270.6	protein_coding	1/8						chr10	TogoVar
CYP2C9_chr10_94933658_94995091	94934569	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0258 a0001c0002t0002g0258	1	374	0.0027	-11	c.-41 others(22): Show c.-4113_-4103delAAAAAAAAAAA		CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding					4088		chr10	TogoVar
CYP2C9_chr10_94933658_94995091	94934582	AAAAAAAA others(4): Show AAAAAAAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02818.hp1 others(1): Show HG02451.hp2 HG02647.hp2 HG02818.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0259 a0001c0002t0002g0038 a0001c0002t0002g0254 a0001c0001t0002g0259 a0001c0002t0002g0038 a0001c0002t0002g0254	4	374	0.0107	-11	c.-41 others(22): Show c.-4100_-4090delAAAAAAAAAAT		CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding					4075		chr10	TogoVar
CYP2C9_chr10_94933658_94995091	94934584	AAAAAAAA others(4): Show AAAAAAAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01496.hp1 HG02965.hp2 others(3): Show HG01243.hp2 HG01496.hp1 HG02965.hp2 HG03239.hp2 HG03688.hp2 HG03710.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0004c0005t0001 a0001c0001t0002 a0004c0005t0001	a0001c0001t0002g0007 a0001c0001t0002g0046 a0001c0001t0002g0049 others(2): Show a0001c0001t0002g0007 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0051 a0004c0005t0001g0036	6	374	0.0160	-11	c.-40 others(22): Show c.-4098_-4088delAAAAAAAATAT		CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding					4073		chr10	TogoVar
CYP2C9_chr10_94933658_94995091	94934586	AAAAAAAT others(4): Show AAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02155.hp1 others(3): Show HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02615.hp2 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0243 a0001c0002t0002g0041 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0243 a0001c0002t0002g0041 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0261	6	374	0.0160	-11	c.-40 others(22): Show c.-4096_-4086delAAAAAATATAT		CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding					4071		chr10	TogoVar
CYP2C9_chr10_94933658_94995091	94934588	AAAAATAT others(4): Show AAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02293.hp2 HG02300.hp1 others(3): Show HG01981.hp1 HG02293.hp2 HG02300.hp1 NA18995.hp1 NA19062.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0158 a0001c0001t0001g0167 others(3): Show a0001c0001t0001g0025 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0215	6	374	0.0160	-11	c.-40 others(22): Show c.-4094_-4084delAAAATATATAT		CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding					4069		chr10	TogoVar
CYP2E1_chr10_133522363_133544123	133542730	TTTCTTTC others(4): Show TTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	414	0.0024	-11	c.37 others(22): Show c.3767_*3777delTTCTTTCTTTC		CYP2E1	ENSG00000130649.10	transcript	ENST00000252945.8	protein_coding					3608		chr10	TogoVar
CYP2E1_chr10_133522363_133544123	133542734	TTTCTTTC others(4): Show TTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0009 a0001c0002t0003g0009	1	414	0.0024	-11	c.37 others(22): Show c.3771_*3781delTTCTTTCTTTC		CYP2E1	ENSG00000130649.10	transcript	ENST00000252945.8	protein_coding					3612		chr10	TogoVar
CYP2S1_chr19_41188219_41212539	41188838	ATATATAT others(4): Show ATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0194 a0004c0008t0001g0194	1	422	0.0024	-11	c.-44 others(22): Show c.-4426_-4416delTATATATATTT		CYP2S1	ENSG00000167600.14	transcript	ENST00000310054.9	protein_coding					4380		chr19	TogoVar
CYP2S1_chr19_41188219_41212539	41188842	ATATATTT others(4): Show ATATATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02970.hp1 others(3): Show HG02630.hp1 HG02647.hp1 HG02970.hp1 HG03139.hp1 HG03540.hp1 HG06807.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0016 a0001c0001 a0001c0002 a0009c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 a0009c0016t0001	a0001c0001t0001g0014 a0001c0001t0002g0002 a0001c0001t0002g0009 others(3): Show a0001c0001t0001g0014 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0010g0148 a0001c0002t0001g0180 a0009c0016t0001g0161	6	422	0.0142	-11	c.-44 others(22): Show c.-4422_-4412delTATATTTTTTT		CYP2S1	ENSG00000167600.14	transcript	ENST00000310054.9	protein_coding					4376		chr19	TogoVar

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