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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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
CARD19_chr9_93091217_93118283	93113539	ACACACAC others(10): Show ACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	358	0.0028	-17	c.43 others(26): Show c.433_*449delCACACACACACACACAC	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		257		chr9	TogoVar
CARNS1_chr11_67410678_67430604	67427073	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00558.hp2 others(42): Show HG00140.hp1 HG00558.hp1 HG00558.hp2 HG01109.hp1 HG01169.hp1 HG01928.hp1 HG01981.hp2 HG02015.hp1 HG02135.hp2 HG02165.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03486.hp1 HG03654.hp2 NA18522.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18950.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18970.hp2 NA18982.hp1 NA18983.hp1 NA18993.hp1 NA18995.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp2 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19083.hp1 NA19084.hp2 NA19088.hp2	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0016	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0023 a0001c0026 a0002c0002 a0002c0013 a0012c0017 a0016c0014	a0001c0001t0001 a0001c0001t0014 a0001c0003t0006 others(17): Show a0001c0001t0001 a0001c0001t0014 a0001c0003t0006 a0001c0003t0009 a0001c0003t0012 a0001c0003t0016 a0001c0003t0039 a0001c0003t0042 a0001c0003t0043 a0001c0004t0013 a0001c0004t0035 a0001c0005t0004 a0001c0005t0022 a0001c0023t0009 a0001c0026t0025 a0002c0002t0026 a0002c0002t0028 a0002c0013t0004 a0012c0017t0001 a0016c0014t0003	a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0014g0001 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0014g0001 a0001c0001t0014g0007 a0001c0003t0006g0003 a0001c0003t0009g0003 a0001c0003t0012g0003 a0001c0003t0016g0003 a0001c0003t0039g0003 a0001c0003t0042g0003 a0001c0003t0043g0041 a0001c0004t0013g0026 a0001c0004t0035g0009 a0001c0005t0004g0006 a0001c0005t0004g0020 a0001c0005t0004g0022 a0001c0005t0004g0028 a0001c0005t0004g0033 a0001c0005t0004g0049 a0001c0005t0022g0006 a0001c0023t0009g0003 a0001c0026t0025g0046 a0002c0002t0026g0056 a0002c0002t0028g0055 a0002c0013t0004g0051 a0012c0017t0001g0001 a0016c0014t0003g0005	45	346	0.1301	-17	c.24 others(28): Show c.2473_*2489delTTTTTTTTTTTTTTTTT	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding		1470		chr11	TogoVar
CARS1_chr11_2995929_3062423	3018045	TTGGTAAA others(10): Show TTGGTAAAAATCTGAAAG	T T	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0270 a0003c0006t0001g0270	1	321	0.0031	-17	c.163 others(33): Show c.1630-108_1630-92delCTTTCAGATTTTTACCA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	14/22			chr11	TogoVar
CARS1_chr11_2995929_3062423	3049865	AGCAGAGT others(10): Show AGCAGAGTGTGTTGCGGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	321	0.0031	-17	c.26- others(32): Show c.26-1881_26-1865delCCCGCAACACACTCTGC	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	1/22			chr11	TogoVar
CASK_chrX_41509934_41928554	41729768	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0027 a0001c0007t0027	a0001c0007t0027g0160 a0001c0007t0027g0160	1	164	0.0061	-17	c.429 others(34): Show c.429+9599_429+9615delATATTTTTTTTTTTTTT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26			chrX	TogoVar
CASP6_chr4_109683628_109708445	109705988	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	416	0.0024	-17	c.-26 others(28): Show c.-2610_-2594delATATTTTTTTTTTTTTT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2544		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705990	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03831.hp2 HG03516.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0080 a0001c0001t0002g0085 a0001c0001t0001g0080 a0001c0001t0002g0085	2	416	0.0048	-17	c.-26 others(28): Show c.-2612_-2596delATATATTTTTTTTTTTT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2546		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705992	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG04204.hp2 HG02080.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0091 a0001c0001t0003g0038 a0001c0001t0003g0091	2	416	0.0048	-17	c.-26 others(28): Show c.-2614_-2598delATATATATTTTTTTTTT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2548		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705994	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01433.hp1 HG01993.hp2 others(16): Show HG00323.hp1 HG01433.hp1 HG01993.hp2 HG02027.hp2 HG02083.hp1 HG02293.hp2 HG02698.hp1 HG03710.hp1 NA18947.hp1 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18983.hp2 NA18991.hp2 NA19003.hp2 NA19010.hp2 NA19060.hp1 NA19062.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0003g0003 others(8): Show a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0037 a0001c0001t0003g0077 a0001c0001t0003g0083 a0001c0001t0003g0090 a0001c0001t0003g0094	19	416	0.0457	-17	c.-26 others(28): Show c.-2616_-2600delATATATATATTTTTTTT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2550		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705996	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03225.hp2 NA18940.hp2 others(5): Show HG02258.hp1 HG03225.hp2 NA18940.hp2 NA18954.hp1 NA18986.hp1 NA19056.hp1 NA19066.hp2 NA19068.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0003c0005t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0003c0005t0003 a0003c0005t0010	a0001c0001t0002g0087 a0001c0001t0003g0003 a0001c0001t0003g0040 others(3): Show a0001c0001t0002g0087 a0001c0001t0003g0003 a0001c0001t0003g0040 a0001c0001t0003g0095 a0003c0005t0003g0092 a0003c0005t0010g0093	8	416	0.0192	-17	c.-26 others(28): Show c.-2618_-2602delATATATATATATTTTTT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2552		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705998	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	416	0.0024	-17	c.-26 others(28): Show c.-2620_-2604delATATATATATATATTTT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2554		chr4	TogoVar
CASP7_chr10_113674912_113735905	113675428	ACCCACAG others(10): Show ACCCACAGCCAATATCAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	406	0.0025	-17	c.-45 others(28): Show c.-4550_-4534delCCCACAGCCAATATCAT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding		4483		chr10	TogoVar
CASTOR2_chr7_74959705_75036528	74960700	ATATATAT others(10): Show ATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG02735.hp1 HG01993.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0072 a0001c0001t0020 a0001c0001t0072	a0001c0001t0020g0215 a0001c0001t0072g0024 a0001c0001t0020g0215 a0001c0001t0072g0024	2	228	0.0088	-17	c.-42 others(28): Show c.-4285_-4269delTATATATATATATTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4004		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74999601	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp1 HG06807.hp1 HG02976.hp2 HG03098.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0034 a0001c0001t0065 a0001c0001t0028 a0001c0001t0034 a0001c0001t0065	a0001c0001t0028g0189 a0001c0001t0034g0151 a0001c0001t0065g0103 a0001c0001t0028g0189 a0001c0001t0034g0151 a0001c0001t0065g0103	3	228	0.0132	-17	c.114 others(34): Show c.114-8374_114-8358delTTTTTTTTTTTTTTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAST_chr5_96657376_96779683	96752550	ATAACCTC others(10): Show ATAACCTCAGGGATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 NA21309.hp2 HG01070.hp1 HG01071.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0004 a0001c0017t0001 a0001c0001t0004 a0001c0017t0001	a0001c0001t0004g0269 a0001c0001t0004g0285 a0001c0017t0001g0025 a0001c0001t0004g0269 a0001c0001t0004g0285 a0001c0017t0001g0025	3	358	0.0084	-17	c.152 others(36): Show c.1525-1508_1525-1492delAACCTCAGGGATTTTTT	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	20/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CASZ1_chr1_10631604_10801646	10792325	CCGCCCCC others(10): Show CCGCCCCCCCCCCCCCGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp1 HG01109.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0004 a0001c0001t0001 a0001c0011t0004	a0001c0001t0001g0163 a0001c0011t0004g0164 a0001c0001t0001g0163 a0001c0011t0004g0164	2	236	0.0085	-17	c.-23 others(36): Show c.-234+4222_-234+4238delCCGGGGGGGGGGGGGCG	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	1/20			chr1	TogoVar
CATSPERD_chr19_5715637_5783734	5715643	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01070.hp2 HG01071.hp2 others(17): Show HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01346.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG02647.hp2 HG03130.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03704.hp1 HG03831.hp2 HG04228.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0031	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0031c0028	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0004t0001 a0031c0028t0001	a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0062 others(17): Show a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0002g0064 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0092 a0003c0004t0001g0040 a0003c0004t0001g0129 a0031c0028t0001g0130	20	336	0.0595	-17	c.-50 others(28): Show c.-5094_-5078delAAAAAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4993		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5751197	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp2 HG02818.hp2 others(5): Show HG01109.hp2 HG01361.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03225.hp1 HG06807.hp2	a0001 a0025 a0001 a0025	a0001c0001 a0025c0032 a0001c0001 a0025c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0025c0032t0001	a0001c0001t0001g0077 a0001c0001t0001g0093 a0001c0001t0001g0099 others(5): Show a0001c0001t0001g0077 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0191 a0001c0001t0001g0318 a0001c0001t0002g0024 a0001c0001t0004g0105 a0025c0032t0001g0334	8	336	0.0238	-17	c.988 others(32): Show c.988-421_988-405delAAAAAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAT_chr11_34433934_34477060	34441561	GAGGTGGG others(10): Show GAGGTGGGAGGATAGTTT	G G	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0268	1	424	0.0024	-17	c.66+ others(32): Show c.66+2483_66+2499delAGGTGGGAGGATAGTTT	CAT	ENSG00000121691.7	transcript	ENST00000241052.5	protein_coding	1/12			chr11	TogoVar
CAV3_chr3_8728802_8751758	8745478	AAGCGGGT others(10): Show AAGCGGGTGGCTTCTGTG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG01515.hp2 others(3): Show HG00733.hp2 HG01123.hp1 HG01515.hp2 HG01517.hp1 HG02165.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0014 a0001c0007t0005 a0001c0003t0014 a0001c0007t0005	a0001c0003t0014g0062 a0001c0007t0005g0042 a0001c0007t0005g0078 others(2): Show a0001c0003t0014g0062 a0001c0007t0005g0042 a0001c0007t0005g0078 a0001c0007t0005g0079 a0001c0007t0005g0080	6	476	0.0126	-17	c.115 others(30): Show c.115-45_115-29delCGGGTGGCTTCTGTGAG	CAV3	ENSG00000182533.7	transcript	ENST00000343849.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAVIN1_chr17_42397449_42428256	42410892	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp2 HG03130.hp1 others(1): Show HG02809.hp1 HG02818.hp2 HG03130.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0077 a0001c0001t0015g0054 a0001c0001t0015g0055 others(1): Show a0001c0001t0001g0077 a0001c0001t0015g0054 a0001c0001t0015g0055 a0001c0001t0015g0056	4	338	0.0118	-17	c.472 others(34): Show c.472-5521_472-5505delTTTTTTTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42413565	GGAAAAAA others(10): Show GGAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	338	0.0030	-17	c.472 others(34): Show c.472-8194_472-8178delTTTTTTTTTTTTTTTTC	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CBFA2T2_chr20_33485096_33655030	33529010	AGTTTGTT others(10): Show AGTTTGTTTGTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0160 a0001c0001t0020g0160	1	298	0.0034	-17	c.34+ others(34): Show c.34+38726_34+38742delTGTTTGTTTGTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33643791	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0191 a0001c0002t0002g0191	1	298	0.0034	-17	c.148 others(34): Show c.1489-555_1489-539delTATATATATATATATAT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10			chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33652534	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0282 a0001c0006t0007g0282	1	298	0.0034	-17	c.78 others(28): Show c.7889_*7905delAAAAAAAAAAAAAAAAA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding		2505		chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88873828	CGTGCTGA others(10): Show CGTGCTGAGGGTGGCTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 NA18969.hp2 NA18983.hp1 others(1): Show HG02602.hp1 NA18969.hp2 NA18983.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0109 others(1): Show a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0109 a0001c0001t0001g0185	4	284	0.0141	-17	c.31 others(28): Show c.3131_*3147delCAAGCCACCCTCAGCAC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding		1029		chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88905670	TGGGGCTG others(10): Show TGGGGCTGAAGGAGGGGC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0149 a0002c0004t0001g0149	1	284	0.0035	-17	c.152 others(34): Show c.152-4031_152-4015delGCCCCTCCTTCAGCCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975806	TCTCCAGA others(10): Show TCTCCAGAGATGGGGACA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	284	0.0035	-17	c.151 others(32): Show c.151+834_151+850delTGTCCCCATCTCTGGAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBLB_chr3_105650461_105874012	105755016	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(94): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18965.hp1 NA18966.hp2 NA18970.hp2 NA18972.hp2 NA18977.hp2 NA18980.hp2 NA18986.hp1 NA18991.hp2 NA19003.hp1 NA19077.hp1 NA19078.hp2 NA19080.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0001 a0001c0004 a0001c0008 others(3): Show a0001c0001 a0001c0004 a0001c0008 a0001c0012 a0005c0020 a0010c0024	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(12): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0022 a0001c0001t0025 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0004t0002 a0001c0008t0004 a0001c0012t0002 a0005c0020t0006 a0010c0024t0004	a0001c0001t0004g0174 a0001c0001t0004g0176 a0001c0001t0004g0178 others(94): Show a0001c0001t0004g0174 a0001c0001t0004g0176 a0001c0001t0004g0178 a0001c0001t0004g0189 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0215 a0001c0001t0004g0217 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0312 a0001c0001t0004g0342 a0001c0001t0006g0344 a0001c0001t0006g0345 a0001c0001t0006g0346 a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0006g0349 a0001c0001t0006g0350 a0001c0001t0006g0351 a0001c0001t0006g0352 a0001c0001t0006g0353 a0001c0001t0006g0354 a0001c0001t0006g0355 a0001c0001t0006g0357 a0001c0001t0006g0358 a0001c0001t0006g0359 a0001c0001t0006g0360 a0001c0001t0006g0361 a0001c0001t0006g0362 a0001c0001t0006g0363 a0001c0001t0006g0364 a0001c0001t0006g0365 a0001c0001t0006g0366 a0001c0001t0006g0367 a0001c0001t0006g0368 a0001c0001t0006g0370 a0001c0001t0006g0371 a0001c0001t0006g0372 a0001c0001t0009g0170 a0001c0001t0009g0173 a0001c0001t0009g0182 a0001c0001t0009g0183 a0001c0001t0009g0184 a0001c0001t0009g0185 a0001c0001t0009g0186 a0001c0001t0009g0187 a0001c0001t0009g0188 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0274 a0001c0001t0009g0275 a0001c0001t0009g0276 a0001c0001t0022g0273 a0001c0001t0022g0277 a0001c0001t0025g0001 a0001c0001t0038g0214 a0001c0001t0040g0256 a0001c0001t0041g0166 a0001c0001t0042g0180 a0001c0001t0043g0204 a0001c0004t0002g0195 a0001c0004t0002g0259 a0001c0004t0002g0260 a0001c0004t0002g0261 a0001c0004t0002g0262 a0001c0004t0002g0263 a0001c0004t0002g0264 a0001c0004t0002g0265 a0001c0004t0002g0266 a0001c0008t0004g0175 a0001c0008t0004g0177 a0001c0008t0004g0179 a0001c0008t0004g0181 a0001c0012t0002g0279 a0005c0020t0006g0356 a0010c0024t0004g0253	97	380	0.2553	-17	c.567 others(34): Show c.567-3415_567-3399delAAAAAAAAAAAAAAAAA	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	4/18			chr3	TogoVar
CBLB_chr3_105650461_105874012	105829666	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19043.hp2 HG02717.hp1 NA19043.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0021 a0001c0014t0021	a0001c0014t0021g0301 a0001c0014t0021g0302 a0001c0014t0021g0301 a0001c0014t0021g0302	2	380	0.0053	-17	c.419 others(36): Show c.419+23731_419+23747delTTTTTTTTTTTTTTTTT	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18			chr3	TogoVar
CBLC_chr19_44772890_44805652	44784950	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0001	a0000c0002t0001g0041 a0000c0002t0001g0041	1	344	0.0029	-17	c.917 others(32): Show c.917+572_917+588delTTTTTTTTTTTTTTTTT	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLL2_chrX_22267913_22279461	22271960	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02074.hp1 NA18979.hp2 others(3): Show HG00673.hp1 HG02074.hp1 NA18979.hp2 NA19000.hp1 NA19010.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	346	0.0173	-17	c.-10 others(28): Show c.-1031_-1015delTTTTTTTTTTTTTTTTT	CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding		952		chrX	TogoVar
CBLN1_chr16_49272917_49286838	49282352	CAGCCGGC others(10): Show CAGCCGGCGCGCTGGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00544.hp1 others(107): Show HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01106.hp1 HG01175.hp2 HG01358.hp1 HG01496.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18963.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18980.hp2 NA18983.hp1 NA18985.hp2 NA18987.hp2 NA18989.hp1 NA19004.hp2 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19070.hp1 NA19075.hp2 NA19077.hp2 NA19083.hp2 NA19086.hp1 NA19087.hp1 NA19089.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0029 a0001c0001t0030 a0001c0001t0037 a0002c0003t0002 a0002c0003t0008	a0001c0001t0002g0002 a0001c0001t0003g0010 a0001c0001t0003g0022 others(11): Show a0001c0001t0002g0002 a0001c0001t0003g0010 a0001c0001t0003g0022 a0001c0001t0006g0006 a0001c0001t0008g0009 a0001c0001t0012g0017 a0001c0001t0017g0024 a0001c0001t0018g0025 a0001c0001t0019g0026 a0001c0001t0029g0040 a0001c0001t0030g0041 a0001c0001t0037g0060 a0002c0003t0002g0051 a0002c0003t0008g0056	110	396	0.2778	-17	c.-90 others(26): Show c.-904_-888delCGCCCAGCGCGCCGGCT	CBLN1	ENSG00000102924.13	transcript	ENST00000219197.11	protein_coding		515		chr16	TogoVar
CBL_chr11_119201339_119313149	119266783	ATGACCTC others(10): Show ATGACCTCCTTCCTCAGC	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	364	0.0028	-17	c.444 others(34): Show c.444-4951_444-4935delTGACCTCCTTCCTCAGC	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15			chr11	TogoVar
CBR3_chr21_36130079_36151562	36137533	AGGAAGGA others(10): Show AGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	424	0.0024	-17	c.290 others(32): Show c.290-290_290-274delGAAGGAAGGAAGGAAGG	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
CBS_chr21_43048191_43080835	43077083	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG03486.hp2 HG02132.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0003 a0001c0012 a0002c0003	a0001c0012t0002 a0002c0003t0004 a0001c0012t0002 a0002c0003t0004	a0001c0012t0002g0127 a0002c0003t0004g0165 a0001c0012t0002g0127 a0002c0003t0004g0165	2	298	0.0067	-17	c.-14 others(28): Show c.-1415_-1399delTTTTTTTTTTTTTTTTT	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding		1249		chr21	TogoVar
CBX1_chr17_48065059_48106478	48080944	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	396	0.0025	-17	c.-37 others(34): Show c.-37-3920_-37-3904delATATATATATTTTTTTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48080946	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	396	0.0025	-17	c.-37 others(34): Show c.-37-3922_-37-3906delATATATATATATTTTTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48080948	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02486.hp2 HG01106.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0052 a0001c0001t0002g0053	2	396	0.0051	-17	c.-37 others(34): Show c.-37-3924_-37-3908delATATATATATATATTTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48080950	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19030.hp2 HG03486.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0025 a0001c0001t0005g0109 a0001c0001t0002g0025 a0001c0001t0005g0109	2	396	0.0051	-17	c.-37 others(34): Show c.-37-3926_-37-3910delATATATATATATATATT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48080952	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19043.hp1 HG01243.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0056 a0001c0001t0002g0024 a0001c0001t0002g0056	2	396	0.0051	-17	c.-37 others(34): Show c.-37-3928_-37-3912delATATATATATATATATA	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48084202	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	396	0.0025	-17	c.-37 others(34): Show c.-37-7178_-37-7162delAAAAAAAAAAAAAAAAA	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX3_chr7_26196745_26218607	26217320	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01516.hp2 HG01884.hp1 others(3): Show HG01099.hp2 HG01516.hp2 HG01884.hp1 HG02451.hp1 HG02818.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0019 a0001c0001t0026 a0001c0001t0012 a0001c0001t0019 a0001c0001t0026	a0001c0001t0012g0019 a0001c0001t0012g0056 a0001c0001t0012g0057 others(3): Show a0001c0001t0012g0019 a0001c0001t0012g0056 a0001c0001t0012g0057 a0001c0001t0012g0058 a0001c0001t0019g0037 a0001c0001t0026g0171	6	410	0.0146	-17	c.51 others(28): Show c.5113_*5129delAAAAAAAAAAAAAAAAA	CBX3	ENSG00000122565.19	transcript	ENST00000396386.7	protein_coding		3714		chr7	TogoVar
CC2D2A_chr4_15464882_15606552	15468497	AACAGAAA others(10): Show AACAGAAATTTATTTTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	344	0.0029	-17	c.-15 others(28): Show c.-1578_-1562delACAGAAATTTATTTTTC	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding		1384		chr4	TogoVar
CC2D2B_chr10_95902975_96038745	95947107	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0031 a0031	a0031c0039 a0031c0039	a0031c0039t0001 a0031c0039t0001	a0031c0039t0001g0002 a0031c0039t0001g0002	1	312	0.0032	-17	c.802 others(34): Show c.802-2787_802-2771delATATATTTTTTTTTTTT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	9/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCAR2_chr8_22599757_22625471	22616880	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	376	0.0027	-17	c.184 others(34): Show c.1846-539_1846-523delTTTTTTTTTTTTTTTTG	CCAR2	ENSG00000158941.17	transcript	ENST00000308511.9	protein_coding	14/20			chr8	TogoVar
CCBE1_chr18_59425939_59702423	59601010	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02818.hp2 HG02895.hp2 others(3): Show HG02738.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG03098.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0048	a0001c0001t0001g0205 a0001c0001t0002g0135 a0001c0001t0002g0230 others(3): Show a0001c0001t0001g0205 a0001c0001t0002g0135 a0001c0001t0002g0230 a0001c0001t0005g0179 a0001c0001t0011g0087 a0001c0001t0048g0145	6	242	0.0248	-17	c.212 others(36): Show c.212+95602_212+95618delAAAAAAAAAAAAAAAAA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658341	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	242	0.0041	-17	c.212 others(36): Show c.212+38271_212+38287delATATTTTTTTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658351	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02559.hp2 HG00423.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0131 a0001c0001t0001g0077 a0001c0001t0001g0131	2	242	0.0083	-17	c.212 others(36): Show c.212+38261_212+38277delATATATATATATATTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658353	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0210 a0001c0001t0015g0210	1	242	0.0041	-17	c.212 others(36): Show c.212+38259_212+38275delATATATATATATATATT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar

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Search Results (Total: 9132 hits)