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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
CTTNBP2_chr7_117705651_117878441	117871844	T T	TCACACAC others(21): Show TCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01952.hp2 others(6): Show HG00609.hp1 HG00609.hp2 HG01952.hp2 HG02451.hp1 HG02723.hp2 HG03209.hp1 NA18522.hp2 NA18906.hp1 NA18951.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0016 a0008c0012 a0001c0001 a0001c0016 a0008c0012	a0001c0001t0001 a0001c0016t0001 a0008c0012t0002 a0001c0001t0001 a0001c0016t0001 a0008c0012t0002	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0082 others(6): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0149 a0001c0016t0001g0059 a0008c0012t0002g0056	9	164	0.0549	28	c.81+ others(43): Show c.81+1463_81+1490dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CTXN3_chr5_127644082_127663630	127658663	A A	ATGCACTG others(21): Show ATGCACTGAGGGTGCTACCTGGTATTAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01496.hp2 others(4): Show HG01069.hp2 HG01071.hp1 HG01496.hp2 HG02630.hp2 HG03098.hp1 HG03195.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0011 a0001c0001t0002g0026 a0001c0001t0002g0128 others(1): Show a0001c0001t0002g0011 a0001c0001t0002g0026 a0001c0001t0002g0128 a0001c0001t0009g0011	7	472	0.0148	28	c.89 others(37): Show c.896_*897insTGCACTGAGGGTGCTACCTGGTATTAAG	CTXN3	ENSG00000205279.9	transcript	ENST00000379445.8	protein_coding		34		chr5	TogoVar
CTXND1_chr15_80190481_80257213	80204647	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0345 a0001c0001t0031g0345	1	396	0.0025	28	c.-21 others(45): Show c.-217-908_-217-907insTATATATATATATATATATATATATATA	CTXND1	ENSG00000259417.3	transcript	ENST00000560778.3	protein_coding	1/2			chr15	TogoVar
CUBN_chr10_16818966_17134811	16889947	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0069 a0069	a0069c0082 a0069c0082	a0069c0082t0001 a0069c0082t0001	a0069c0082t0001g0004 a0069c0082t0001g0004	1	192	0.0052	28	c.875 others(45): Show c.8755+423_8755+424insGTTTTGTTTTGTTTTGTTTTTTTTTTTT	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	55/66			chr10	TogoVar
CUBN_chr10_16818966_17134811	16901895	A A	ATATATAT others(21): Show ATATATATATATATACACACCATATATAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02602.hp2 HG03491.hp1 others(1): Show HG00642.hp1 HG02602.hp2 HG03491.hp1 homoSapiens_chm13v2.hp1	a0002 a0005 a0058 others(1): Show a0002 a0005 a0058 a0073	a0002c0149 a0005c0003 a0058c0142 others(1): Show a0002c0149 a0005c0003 a0058c0142 a0073c0031	a0002c0149t0001 a0005c0003t0001 a0058c0142t0003 others(1): Show a0002c0149t0001 a0005c0003t0001 a0058c0142t0003 a0073c0031t0001	a0002c0149t0001g0060 a0005c0003t0001g0069 a0058c0142t0003g0113 others(1): Show a0002c0149t0001g0060 a0005c0003t0001g0069 a0058c0142t0003g0113 a0073c0031t0001g0091	4	192	0.0208	28	c.806 others(45): Show c.8063-437_8063-436insCTATATATGGTGTGTATATATATATATA	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	51/66			chr10	TogoVar
CUBN_chr10_16818966_17134811	17083516	A A	AATAAATA others(21): Show AATAAATAAATAAATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02976.hp1 HG03041.hp2 others(1): Show HG02717.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp2	a0003 a0016 a0051 others(1): Show a0003 a0016 a0051 a0055	a0003c0114 a0016c0115 a0051c0116 others(1): Show a0003c0114 a0016c0115 a0051c0116 a0055c0112	a0003c0114t0002 a0016c0115t0002 a0051c0116t0001 others(1): Show a0003c0114t0002 a0016c0115t0002 a0051c0116t0001 a0055c0112t0001	a0003c0114t0002g0054 a0016c0115t0002g0047 a0051c0116t0001g0023 others(1): Show a0003c0114t0002g0054 a0016c0115t0002g0047 a0051c0116t0001g0023 a0055c0112t0001g0148	4	192	0.0208	28	c.230 others(45): Show c.2301+754_2301+755insGTATGTATGTATGTATTTATTTATTTAT	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	17/66			chr10	TogoVar
CUBN_chr10_16818966_17134811	17083516	A A	AATAAATA others(21): Show AATAAATACATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0003 a0004c0002t0003	a0004c0002t0003g0037 a0004c0002t0003g0037	1	192	0.0052	28	c.230 others(45): Show c.2301+754_2301+755insGTATGTATGTATGTATGTATGTATTTAT	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	17/66			chr10	TogoVar
CUEDC1_chr17_57856243_57960412	57893349	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0117 a0002c0003t0004g0117	1	212	0.0047	28	c.-31 others(47): Show c.-315-7471_-315-7470insCACACACACACACACACACACACACA CA	CUEDC1	ENSG00000180891.13	transcript	ENST00000577830.6	protein_coding	1/10			chr17	TogoVar
CUEDC1_chr17_57856243_57960412	57905249	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	212	0.0047	28	c.-31 others(49): Show c.-315-19398_-315-19371dupGTGTGTGTGTGTGTGTGTGTGTGT GTGT	CUEDC1	ENSG00000180891.13	transcript	ENST00000577830.6	protein_coding	1/10			chr17	TogoVar
CUL1_chr7_148693903_148806110	148725219	G G	GCGCACGC others(21): Show GCGCACGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	338	0.0030	28	c.-16 others(47): Show c.-161-4742_-161-4741insGCACGCGCACACACACACACACACAC AC	CUL1	ENSG00000055130.18	transcript	ENST00000325222.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUL4A_chr13_113204613_113272108	113260203	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01168.hp2 others(3): Show HG00323.hp2 HG00735.hp2 HG01168.hp2 HG02015.hp1 HG03669.hp1 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0002c0002t0001 a0001c0001t0001 a0001c0001t0008 a0002c0002t0001	a0001c0001t0001g0142 a0001c0001t0001g0177 a0001c0001t0001g0278 others(3): Show a0001c0001t0001g0142 a0001c0001t0001g0177 a0001c0001t0001g0278 a0001c0001t0008g0228 a0002c0002t0001g0020 a0002c0002t0001g0054	6	396	0.0152	28	c.203 others(45): Show c.2032-388_2032-387insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113260211	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02056.hp2 NA18612.hp1 others(17): Show HG00621.hp2 HG02056.hp2 NA18612.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18962.hp1 NA18966.hp2 NA18972.hp1 NA18977.hp1 NA18988.hp1 NA18994.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp2 NA19057.hp2 NA19072.hp2 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0023 a0003c0004t0002	a0001c0001t0002g0006 a0001c0001t0002g0106 a0001c0001t0002g0107 others(16): Show a0001c0001t0002g0006 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0010g0117 a0001c0001t0010g0118 a0001c0001t0011g0132 a0001c0001t0011g0133 a0001c0001t0011g0135 a0001c0001t0023g0155 a0003c0004t0002g0131	20	396	0.0505	28	c.203 others(45): Show c.2032-388_2032-387insAAAAAAAAAAAAAAAAAAACAAAAAAAA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113260211	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAACAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18973.hp1 NA19070.hp2 others(1): Show NA18945.hp1 NA18973.hp1 NA19070.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0208 a0001c0001t0001g0003 a0001c0001t0001g0208	4	396	0.0101	28	c.203 others(45): Show c.2032-388_2032-387insAAAAAAAAAACAAAAAAAACAAAAAAAA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUX1_chr7_101811007_102288958	101984089	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0061 a0002c0005t0002g0061	1	132	0.0076	28	c.175 others(47): Show c.175-44008_175-44007insAAAAAAAAAAAAAAAAAAAAAAAATA TA	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101811007_102288958	102030689	G G	GTGTTTTT others(21): Show GTGTTTTTTTTTTTTTGTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03195.hp1 HG03471.hp2 HG02818.hp2 HG03195.hp1 HG03471.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0006 a0001c0001 a0002c0003 a0003c0006	a0001c0001t0001 a0002c0003t0001 a0003c0006t0001 a0001c0001t0001 a0002c0003t0001 a0003c0006t0001	a0001c0001t0001g0002 a0002c0003t0001g0120 a0003c0006t0001g0119 a0001c0001t0001g0002 a0002c0003t0001g0120 a0003c0006t0001g0119	3	132	0.0227	28	c.222 others(45): Show c.222+2558_222+2559insTGTTTTTTGTTTTTTGTTTTTTTTTTTT	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101811007_102288958	102030689	G G	GTGTTTTT others(21): Show GTGTTTTTTTTTTTTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01496.hp2 HG01258.hp1 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0052 a0002c0003t0002g0076 a0002c0003t0002g0052 a0002c0003t0002g0076	2	132	0.0152	28	c.222 others(45): Show c.222+2558_222+2559insTTTTTTTTGTTTTTTGTTTTTTTTTTTT	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101812626_102263233	101984089	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0038 a0005c0010t0038	a0005c0010t0038g0016 a0005c0010t0038g0016	1	136	0.0074	28	c.142 others(47): Show c.142-44008_142-44007insAAAAAAAAAAAAAAAAAAAAAAAATA TA	CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101812626_102263233	102030689	G G	GTGTTTTT others(21): Show GTGTTTTTTTTTTTTTGTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03195.hp2 HG03471.hp2 others(1): Show HG02818.hp1 HG03195.hp2 HG03471.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0002c0005 a0001c0004 a0001c0006 a0002c0005	a0001c0004t0002 a0001c0006t0005 a0001c0006t0009 others(1): Show a0001c0004t0002 a0001c0006t0005 a0001c0006t0009 a0002c0005t0013	a0001c0004t0002g0049 a0001c0006t0005g0077 a0001c0006t0009g0070 others(1): Show a0001c0004t0002g0049 a0001c0006t0005g0077 a0001c0006t0009g0070 a0002c0005t0013g0002	4	136	0.0294	28	c.189 others(45): Show c.189+2558_189+2559insTGTTTTTTGTTTTTTGTTTTTTTTTTTT	CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101812626_102263233	102030689	G G	GTGTTTTT others(21): Show GTGTTTTTTTTTTTTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01496.hp2 HG01258.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0043 a0001c0001t0006g0082 a0001c0001t0006g0043 a0001c0001t0006g0082	2	136	0.0147	28	c.189 others(45): Show c.189+2558_189+2559insTTTTTTTTGTTTTTTGTTTTTTTTTTTT	CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX2_chr12_111029165_111355554	111069533	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0057	1	100	0.0100	28	c.63+ others(45): Show c.63+35312_63+35313insTGCGCGCGCGTGTGTGTGTGTGTGTGTG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUX2_chr12_111029165_111355554	111328972	T T	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	100	0.0100	28	c.292 others(47): Show c.2927-5466_2927-5465insTCTCTCTCTCTCTCTCTCTCTCTCCC TC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CWC27_chr5_64763930_65023750	64799602	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01978.hp1 HG02074.hp2 others(12): Show HG00621.hp2 HG01978.hp1 HG02074.hp2 HG02257.hp1 HG02738.hp2 HG03225.hp1 HG03669.hp2 HG04184.hp1 NA18939.hp2 NA18942.hp1 NA18960.hp2 NA18966.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0006 a0002c0002 a0002c0004 a0002c0006	a0002c0002t0002 a0002c0004t0002 a0002c0006t0001 a0002c0002t0002 a0002c0004t0002 a0002c0006t0001	a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0025 others(12): Show a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0025 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0057 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0065 a0002c0002t0002g0069 a0002c0002t0002g0237 a0002c0004t0002g0001 a0002c0006t0001g0123	15	260	0.0577	28	c.670 others(43): Show c.670-646_670-645insTATATATATATATATATATATATATATG	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	7/13			chr5	TogoVar
CWC27_chr5_64763930_65023750	64954650	C C	CTATATAT others(21): Show CTATATATATATATATATAGAAAGCACTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG01081.hp2 others(21): Show HG00280.hp2 HG00741.hp2 HG01081.hp2 HG01884.hp1 HG01943.hp1 HG02055.hp1 HG02109.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02886.hp1 HG02965.hp1 HG02976.hp2 HG03139.hp1 HG03486.hp2 HG03540.hp1 HG04199.hp1 NA18945.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0002c0010 a0001c0003 a0002c0004 a0002c0010	a0001c0003t0001 a0001c0003t0002 a0002c0004t0001 others(2): Show a0001c0003t0001 a0001c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0010t0002	a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0256 others(21): Show a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0002g0014 a0001c0003t0002g0084 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0172 a0001c0003t0002g0198 a0001c0003t0002g0214 a0001c0003t0002g0227 a0001c0003t0002g0233 a0002c0004t0001g0249 a0002c0004t0002g0002 a0002c0004t0002g0003 a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 a0002c0004t0002g0075 a0002c0004t0002g0077 a0002c0004t0002g0093 a0002c0010t0002g0235	24	260	0.0923	28	c.104 others(49): Show c.1043-17037_1043-17036insTAGAAAGCACTATATATATATATA TATA	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
CWF19L2_chr11_107321360_107462825	107380046	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG00738.hp1 HG01099.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0350 a0004c0004t0001g0351 a0004c0004t0001g0350 a0004c0004t0001g0351	2	392	0.0051	28	c.187 others(49): Show c.1872+10027_1872+10028insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	12/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402869	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0327 a0004c0004t0002g0327	1	392	0.0026	28	c.161 others(47): Show c.1618-9975_1618-9974insTATATATATATATATATATATATATA TA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402871	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02145.hp2 HG02451.hp1 others(3): Show HG01516.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG03041.hp2 NA21309.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0006 a0004c0004 a0006c0006	a0004c0004t0002 a0006c0006t0003 a0004c0004t0002 a0006c0006t0003	a0004c0004t0002g0325 a0004c0004t0002g0328 a0004c0004t0002g0345 others(3): Show a0004c0004t0002g0325 a0004c0004t0002g0328 a0004c0004t0002g0345 a0004c0004t0002g0348 a0006c0006t0003g0316 a0006c0006t0003g0317	6	392	0.0153	28	c.161 others(47): Show c.1618-9977_1618-9976insTATATATATATATATATATATATATA TA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0362 a0002c0002t0003g0362	1	392	0.0026	28	c.161 others(48): Show c.1618-10006_1618-9979dupTATATATATATATATATATATATAT ATA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp1 HG02717.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0112 a0001c0001t0002g0031 a0001c0001t0001g0112 a0001c0001t0002g0031	2	392	0.0051	28	c.161 others(47): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA CA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02109.hp1 HG02132.hp2 others(5): Show HG02074.hp2 HG02109.hp1 HG02132.hp2 HG03486.hp1 HG03516.hp2 NA18966.hp1 NA18982.hp2 NA19067.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0011 a0003c0003 others(1): Show a0001c0001 a0001c0011 a0003c0003 a0008c0013	a0001c0001t0002 a0001c0011t0001 a0003c0003t0002 others(1): Show a0001c0001t0002 a0001c0011t0001 a0003c0003t0002 a0008c0013t0002	a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0011t0001g0012 others(5): Show a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0011t0001g0012 a0003c0003t0002g0040 a0003c0003t0002g0041 a0003c0003t0002g0290 a0003c0003t0002g0293 a0008c0013t0002g0018	8	392	0.0204	28	c.161 others(47): Show c.1618-9979_1618-9978insTATATATATATATATATATATATACA CA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWH43_chr4_48981275_49067079	49039306	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02258.hp1 HG02280.hp1 others(8): Show HG00558.hp1 HG02258.hp1 HG02280.hp1 HG02886.hp1 HG03098.hp1 HG03516.hp1 NA18943.hp2 NA18960.hp1 NA18983.hp1 NA19082.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0130 a0001c0001t0001g0160 others(8): Show a0001c0001t0001g0022 a0001c0001t0001g0130 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0259	11	296	0.0372	28	c.180 others(47): Show c.1803+1153_1803+1154insTATATATATATATATATATATATATA TA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CWH43_chr4_48981275_49067079	49039311	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	296	0.0034	28	c.180 others(47): Show c.1803+1153_1803+1154insTATATGTATATATATATATATATATA TA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CWH43_chr4_48981275_49067079	49039322	T T	TATATATA others(21): Show TATATATATACTGATGTATATATATACTG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0155 a0004c0004t0001g0155	1	296	0.0034	28	c.180 others(47): Show c.1803+1151_1803+1152insCTGATGTATATATATACTGATATATA TA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CWH43_chr4_48981275_49067079	49039332	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	296	0.0034	28	c.180 others(47): Show c.1803+1153_1803+1154insTATATATATATATATATATATATATA CA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CXADR_chr21_17508043_17575100	17534019	T T	TATATATA others(21): Show TATATATAGCTATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(105): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03491.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18977.hp1 NA18981.hp1 NA18983.hp2 NA18987.hp2 NA18989.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19075.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA20752.hp2 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0009 a0005c0012 a0001c0001 a0001c0009 a0005c0012	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(23): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0009t0074 a0005c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0040 others(104): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0067 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0306 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0007g0008 a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0007g0233 a0001c0001t0007g0235 a0001c0001t0007g0237 a0001c0001t0007g0238 a0001c0001t0007g0261 a0001c0001t0012g0089 a0001c0001t0012g0132 a0001c0001t0012g0133 a0001c0001t0012g0134 a0001c0001t0012g0137 a0001c0001t0015g0250 a0001c0001t0015g0268 a0001c0001t0019g0323 a0001c0001t0022g0118 a0001c0001t0022g0262 a0001c0001t0023g0242 a0001c0001t0023g0248 a0001c0001t0024g0211 a0001c0001t0024g0257 a0001c0001t0025g0006 a0001c0001t0025g0252 a0001c0001t0026g0212 a0001c0001t0026g0244 a0001c0001t0041g0260 a0001c0001t0042g0273 a0001c0001t0044g0210 a0001c0001t0045g0264 a0001c0001t0046g0206 a0001c0001t0047g0265 a0001c0001t0048g0231 a0001c0001t0049g0281 a0001c0001t0051g0207 a0001c0001t0052g0041 a0001c0001t0053g0115 a0001c0001t0054g0236 a0001c0001t0055g0307 a0001c0001t0056g0135 a0001c0009t0074g0190 a0005c0012t0001g0282	108	352	0.3068	28	c.44- others(45): Show c.44-13001_44-13000insGCTATATATATATATATACACATATATA	CXADR	ENSG00000154639.19	transcript	ENST00000284878.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
CXCL17_chr19_42423278_42447946	42438381	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	368	0.0027	28	c.79+ others(43): Show c.79+4372_79+4373insATATATATATATATATATATATTTTTTT	CXCL17	ENSG00000189377.9	transcript	ENST00000601181.6	protein_coding	1/3			chr19	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(21): Show GTGTGTGTGTGCGCGCGCGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02965.hp2 HG04199.hp2 others(2): Show HG01243.hp1 HG02965.hp2 HG04199.hp2 NA18983.hp1 NA19000.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0012 a0002c0002 a0003c0003 others(1): Show a0001c0012 a0002c0002 a0003c0003 a0005c0017	a0001c0012t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0012t0001 a0002c0002t0001 a0003c0003t0001 a0005c0017t0001	a0001c0012t0001g0019 a0002c0002t0001g0002 a0003c0003t0001g0018 others(1): Show a0001c0012t0001g0019 a0002c0002t0001g0002 a0003c0003t0001g0018 a0005c0017t0001g0024	5	73	0.0685	28	c.-39 others(39): Show c.-3992_-3991insTGTGCGCGCGCGCGCGCGCACACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CYB561D1_chr1_109489094_109505435	109503474	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG03516.hp2 HG02818.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	2	370	0.0054	28	c.72 others(39): Show c.7215_*7216insTATATATATATATATATATATATATATA	CYB561D1	ENSG00000174151.15	transcript	ENST00000420578.7	protein_coding		3040		chr1	TogoVar
CYB5A_chr18_74245846_74296963	74250293	A A	ACCAGGTG others(21): Show ACCAGGTGAGGACTGTCAGGTGAGGACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0272 a0001c0001t0032g0272	1	396	0.0025	28	c.32 others(39): Show c.3290_*3291insCGGTCCTCACCTGACAGTCCTCACCTGG	CYB5A	ENSG00000166347.19	transcript	ENST00000340533.9	protein_coding		552		chr18	TogoVar
CYB5R3_chr22_42612840_42654392	42638728	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0211 a0001c0001t0004g0211	1	360	0.0028	28	c.22- others(43): Show c.22-1883_22-1882insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CYB5R3	ENSG00000100243.22	transcript	ENST00000352397.10	protein_coding	1/8			chr22	TogoVar
CYBB_chrX_37775059_37818461	37789526	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	246	0.0041	28	c.253 others(45): Show c.253-2422_253-2421insTAAATAAATAAATAAATAAATAAATAAA	CYBB	ENSG00000165168.9	transcript	ENST00000378588.5	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYLC1_chrX_83856146_83891698	83878362	T T	TATATAAA others(21): Show TATATAAATATATATATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	208	0.0048	28	c.192 others(47): Show c.1923+3736_1923+3737insAATATATATATATAAATATATAAATA TA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYLC1_chrX_83856146_83891698	83878424	T T	TATATATA others(21): Show TATATATAAATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG01515.hp1 others(2): Show HG00438.hp1 HG00735.hp1 HG01515.hp1 HG01517.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0068 a0001c0001t0001g0141 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0068 a0001c0001t0001g0141 a0001c0001t0001g0169	5	208	0.0240	28	c.192 others(47): Show c.1923+3800_1923+3801insAATATATATAAATATATATAAATATA TA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYLD_chr16_50737086_50806935	50761746	A A	ATATCTAT others(21): Show ATATCTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	302	0.0033	28	c.913 others(45): Show c.913+7326_913+7353dupCTATCTATCTATCTATCTATCTATCTAT	CYLD	ENSG00000083799.18	transcript	ENST00000427738.8	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
CYP19A1_chr15_51203057_51343596	51223593	T T	TCTCTCAC others(21): Show TCTCTCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19054.hp1 NA19068.hp2 NA18612.hp1 NA19054.hp1 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0081 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0081	3	306	0.0098	28	c.452 others(45): Show c.452-1069_452-1068insTGTGTGTGTGTGTGTGTGTGTGTGAGAG	CYP19A1	ENSG00000137869.16	transcript	ENST00000396402.6	protein_coding	4/9			chr15	TogoVar
CYP19A1_chr15_51203057_51343596	51223593	T T	TCTCTCTC others(21): Show TCTCTCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	306	0.0033	28	c.452 others(45): Show c.452-1069_452-1068insTGTGTGTGTGTGTGTGTGTGTGAGAGAG	CYP19A1	ENSG00000137869.16	transcript	ENST00000396402.6	protein_coding	4/9			chr15	TogoVar
CYP1A1_chr15_74714542_74730528	74715991	A A	AATATATA others(21): Show AATATATAATACATATAAAGATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	434	0.0023	28	c.44 others(39): Show c.4497_*4498insAATATATATCTTTATATGTATTATATAT	CYP1A1	ENSG00000140465.15	transcript	ENST00000379727.8	protein_coding		3550		chr15	TogoVar
CYP20A1_chr2_203234018_203311026	203251793	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0139	a0001c0001t0139g0175 a0001c0001t0139g0175	1	334	0.0030	28	c.290 others(43): Show c.290-173_290-172insGTATATATATATATATATATATGTATAT	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP27A1_chr2_218777147_218820293	218780459	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 NA18940.hp1 others(2): Show HG02896.hp2 HG02897.hp2 NA18940.hp1 NA18953.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0042	5	298	0.0168	28	c.-17 others(39): Show c.-1724_-1723insATATATATATATATATATATATATATAT	CYP27A1	ENSG00000135929.9	transcript	ENST00000258415.9	protein_coding		1687		chr2	TogoVar
CYP27C1_chr2_127178832_127225299	127204485	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19043.hp1 HG02922.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0008g0326 a0001c0002t0001g0324 a0001c0001t0008g0326 a0001c0002t0001g0324	2	352	0.0057	28	c.474 others(43): Show c.474-915_474-914insCCTTCCTTCCTTTCTTTCTTTCTTTCTT	CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding	2/8			chr2	TogoVar
CYP27C1_chr2_127178832_127225299	127204555	G G	GAGAGAGA others(21): Show GAGAGAGAAAGAAAGAAAGAAAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA20300.hp1 HG02965.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0027 a0002c0003t0006g0028 a0002c0003t0006g0027 a0002c0003t0006g0028	2	352	0.0057	28	c.474 others(43): Show c.474-985_474-984insTTCTCTCTTTCTTTCTTTCTTTCTCTCT	CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding	2/8			chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)