Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHRNB3_chr8_42692366_42742407	42717403	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01258.hp2 HG01433.hp1 others(17): Show HG01106.hp1 HG01258.hp2 HG01433.hp1 HG01891.hp1 HG02071.hp2 HG02451.hp1 HG02559.hp2 HG02735.hp2 HG02976.hp1 HG03831.hp1 HG06807.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18980.hp1 NA19009.hp2 NA19055.hp1 NA19055.hp2 NA19074.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0082 a0001c0001t0001g0098 a0001c0001t0001g0099 others(16): Show a0001c0001t0001g0082 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0002g0005 a0001c0001t0002g0156 a0001c0001t0002g0163 a0001c0001t0002g0175 a0001c0001t0002g0191 a0001c0001t0002g0201 a0001c0001t0002g0210 a0001c0001t0002g0218 a0001c0001t0002g0226 a0001c0001t0002g0234 a0001c0001t0002g0240 a0001c0001t0002g0244	20	282	0.0709	24	c.249 others(41): Show c.249+6971_249+6972insAAAAAAAAAAAAAAAAAAAAAGAA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHST11_chr12_104451948_104767014	104475658	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0006 a0001c0001t0019g0006	1	240	0.0042	24	c.118 others(43): Show c.118+18139_118+18162dupATATATATATATATATATATATAT	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST11_chr12_104451948_104767014	104475688	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02683.hp2 HG02886.hp1 others(5): Show HG01496.hp2 HG02683.hp2 HG02886.hp1 HG03490.hp1 HG03704.hp1 HG03831.hp2 NA18944.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0051 a0001c0001t0065	a0001c0001t0001g0020 a0001c0001t0001g0124 a0001c0001t0001g0126 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0002g0077 a0001c0001t0002g0149 a0001c0001t0009g0127 a0001c0001t0051g0104 a0001c0001t0065g0054	8	240	0.0333	24	c.118 others(43): Show c.118+18162_118+18163insATATATATATATATATATATTTAT	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST11_chr12_104451948_104767014	104475688	A A	ATATATAT others(17): Show ATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02895.hp1 HG00140.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0213 a0001c0001t0001g0062 a0001c0001t0001g0213	2	240	0.0083	24	c.118 others(43): Show c.118+18162_118+18163insATATATATATATATATTTATTTAT	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST11_chr12_104451948_104767014	104519071	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	240	0.0042	24	c.118 others(43): Show c.118+61553_118+61576dupGTGTGTGTGTGTGTGTGTGTGTGT	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST11_chr12_104451948_104767014	104722155	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0053 a0001c0001t0066g0053	1	240	0.0042	24	c.205 others(43): Show c.205-34783_205-34760dupGTGTGTGTGTGTGTGTGTGTGTGT	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST11_chr12_104451948_104767014	104750428	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0095 a0001c0001t0007g0095	1	240	0.0042	24	c.205 others(41): Show c.205-6516_205-6493dupTTTTTTTTTTTTTTTTTTTTTTTT	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST13_chr3_126519155_126548291	126546061	G G	GCCATCAG others(17): Show GCCATCAGAGCCAATGTGCATTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	364	0.0028	24	c.34 others(35): Show c.3483_*3484insCCATCAGAGCCAATGTGCATTGCA	CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding		2771		chr3	TogoVar
CHST15_chr10_124002668_124098598	124034782	A A	AGGGACCC others(17): Show AGGGACCCCGGCTCCGCCCCTAACG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	392	0.0026	24	c.119 others(43): Show c.1190+3732_1190+3733insCGTTAGGGGCGGAGCCGGGGTCCC	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	5/7			chr10	TogoVar
CHST15_chr10_124002668_124098598	124035288	T T	TACCCCTG others(17): Show TACCCCTGATAGGTACCCCGGCTCC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03710.hp1 HG03927.hp1 others(1): Show HG01257.hp1 HG03710.hp1 HG03927.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0006g0059 others(1): Show a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0006g0059 a0001c0001t0006g0269	4	392	0.0102	24	c.119 others(43): Show c.1190+3203_1190+3226dupGGAGCCGGGGTACCTATCAGGGGT	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	5/7			chr10	TogoVar
CHST15_chr10_124002668_124098598	124045112	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02273.hp2 HG03831.hp2 others(2): Show HG01433.hp2 HG02273.hp2 HG03831.hp2 NA18965.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0285 others(2): Show a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0285 a0001c0001t0002g0147 a0001c0001t0002g0369	5	392	0.0128	24	c.547 others(39): Show c.547-217_547-194dupTTTTTTTTTTTTTTTTTTTTTTTT	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	2/7			chr10	TogoVar
CHST5_chr16_75523530_75541108	75526152	T T	TGTGTGCA others(17): Show TGTGTGCATGTGAGTGTGCATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(123): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02630.hp2 HG02738.hp2 HG03017.hp1 HG03239.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18985.hp2 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19068.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0020 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0041 a0001c0004t0021 a0003c0005t0001 a0003c0005t0008	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0014 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0077 a0001c0001t0002g0002 a0001c0001t0002g0029 a0001c0001t0002g0088 a0001c0001t0008g0009 a0001c0001t0020g0044 a0001c0001t0020g0050 a0001c0001t0034g0039 a0001c0001t0035g0040 a0001c0001t0036g0041 a0001c0001t0041g0048 a0001c0004t0021g0067 a0001c0004t0021g0068 a0003c0005t0001g0037 a0003c0005t0001g0049 a0003c0005t0008g0042	126	394	0.3198	24	c.29 others(35): Show c.2996_*2997insTCACATGCACACTCACATGCACAC	CHST5	ENSG00000135702.15	transcript	ENST00000336257.8	protein_coding		2377		chr16	TogoVar
CHST8_chr19_33616953_33778506	33618626	C C	CTCTTCTT others(17): Show CTCTTCTTCTTCTTCCTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01106.hp1 HG01168.hp1 others(2): Show HG00621.hp2 HG01106.hp1 HG01168.hp1 HG02965.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0205 a0001c0001t0004g0001 a0001c0001t0004g0003 others(2): Show a0001c0001t0001g0205 a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0005 a0001c0001t0004g0009	5	254	0.0197	24	c.-38 others(35): Show c.-3834_-3833insTCTTCTTCTTCTTCCTCTTCTTCT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		3326		chr19	TogoVar
CHST8_chr19_33616953_33778506	33618626	C C	CTCTTCTT others(17): Show CTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01934.hp2 HG01943.hp2 others(4): Show HG01099.hp2 HG01934.hp2 HG01943.hp2 HG02132.hp1 HG02145.hp1 HG02735.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0072 others(4): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0072 a0001c0001t0001g0164 a0001c0001t0002g0048 a0001c0001t0002g0055 a0001c0001t0002g0058	7	254	0.0276	24	c.-38 others(35): Show c.-3834_-3833insTCTTCTTCTTCTTCTTCTTCTTCT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		3326		chr19	TogoVar
CHST8_chr19_33616953_33778506	33695821	C C	CTTTCTTT others(17): Show CTTTCTTTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00609.hp2 others(9): Show HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG01975.hp1 HG02083.hp1 HG02735.hp2 HG02818.hp2 HG03130.hp2 HG03239.hp1 HG03540.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0005c0004t0001 a0001c0001t0001 a0001c0001t0002 a0005c0004t0001	a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0080 others(9): Show a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0178 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0002g0049 a0005c0004t0001g0088	12	254	0.0472	24	c.130 others(41): Show c.130+6433_130+6434insCTTTCTTTCTTTCTTTCTTTTTTT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33741274	T T	TCCAGCCT others(17): Show TCCAGCCTGTTGTATGTCAGGTTCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	254	0.0039	24	c.131 others(43): Show c.131-30137_131-30114dupCAGCCTGTTGTATGTCAGGTTCCC	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757522	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	254	0.0039	24	c.131 others(43): Show c.131-13890_131-13889insAAGAAAGAAAGAAAGAAAGAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757522	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	254	0.0039	24	c.131 others(43): Show c.131-13890_131-13889insAAGAAAGAAAGAAAGAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757522	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	254	0.0039	24	c.131 others(43): Show c.131-13890_131-13889insAAGAAAGAAAGAGAAAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757522	G G	GGAAGGAA others(17): Show GGAAGGAAGGAAGGAAGGAGAAAGA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	254	0.0039	24	c.131 others(43): Show c.131-13891_131-13890insGAAGGAAGGAAGGAAGGAGAAAGA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4			chr19	TogoVar
CHST8_chr19_33616953_33778506	33765070	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01981.hp1 HG01515.hp1 HG01981.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0003c0006t0003 a0001c0001t0003 a0003c0006t0003	a0001c0001t0003g0098 a0003c0006t0003g0132 a0001c0001t0003g0098 a0003c0006t0003g0132	2	254	0.0079	24	c.131 others(41): Show c.131-6340_131-6339insATATATATATATATATATATGTAT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33774557	A A	ATAGAGGA others(17): Show ATAGAGGAACTGCTGGATCCCCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01081.hp2 NA19010.hp2 HG00140.hp1 HG01081.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0163 a0001c0001t0001g0225 a0001c0001t0001g0102 a0001c0001t0001g0163 a0001c0001t0001g0225	3	254	0.0118	24	c.14 others(35): Show c.1494_*1495insTAGAGGAACTGCTGGATCCCCAGG	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		1052		chr19	TogoVar
CHST8_chr19_33616953_33778506	33774576	T T	TCCAGGTA others(17): Show TCCAGGTAGAGGAACTGCTGGATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02683.hp2 HG01106.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0156 a0001c0001t0002g0047 a0001c0001t0001g0156 a0001c0001t0002g0047	2	254	0.0079	24	c.15 others(35): Show c.1513_*1514insCCAGGTAGAGGAACTGCTGGATCC	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		1071		chr19	TogoVar
CHST9_chr18_26901481_27190308	27000622	G G	GTCTATCT others(17): Show GTCTATCTACCTACCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18522.hp2 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0018 a0001c0001t0007g0009 a0001c0001t0007g0018	2	262	0.0076	24	c.202 others(43): Show c.202+23493_202+23494insTAGATAGATAGGTAGGTAGATAGA	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	4/5			chr18	TogoVar
CHST9_chr18_26901481_27190308	27042774	T T	TCTCTCTC others(17): Show TCTCTCTCTCTCTCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0179 a0001c0001t0022g0179	1	262	0.0038	24	c.160 others(41): Show c.160+5667_160+5690dupGGAGGGAGGGAGAGAGAGAGAGAG	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	3/5			chr18	TogoVar
CHST9_chr18_26901481_27190308	27053256	A A	AAGAAGAA others(17): Show AAGAAGAAGAAGAAGAAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01943.hp2 HG02257.hp2 others(2): Show HG01074.hp1 HG01943.hp2 HG02257.hp2 NA18949.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0020 others(2): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0020 a0001c0001t0045 a0001c0001t0073	a0001c0001t0004g0136 a0001c0001t0015g0043 a0001c0001t0020g0137 others(2): Show a0001c0001t0004g0136 a0001c0001t0015g0043 a0001c0001t0020g0137 a0001c0001t0045g0175 a0001c0001t0073g0088	5	262	0.0191	24	c.122 others(41): Show c.122-4754_122-4753insCCTTCTTCTTCTTCTTCTTCTTCT	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHST9_chr18_26901481_27190308	27053256	A A	AAGAAGAA others(17): Show AAGAAGAAGAAGAAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02145.hp2 HG03471.hp1 others(3): Show HG01256.hp1 HG02145.hp2 HG03471.hp1 HG03492.hp1 HG03834.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0058 a0001c0002t0019	a0001c0001t0001g0045 a0001c0001t0006g0177 a0001c0001t0008g0015 others(3): Show a0001c0001t0001g0045 a0001c0001t0006g0177 a0001c0001t0008g0015 a0001c0001t0012g0044 a0001c0001t0058g0218 a0001c0002t0019g0033	6	262	0.0229	24	c.122 others(41): Show c.122-4754_122-4753insCCTTCTCCTTCTTCTTCTTCTTCT	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHST9_chr18_26901481_27190308	27053256	A A	AAGAAGGA others(17): Show AAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0122 a0001c0001t0007g0122	1	262	0.0038	24	c.122 others(41): Show c.122-4777_122-4754dupCCTTCTCCTTCTCCTTCTCCTTCT	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHSY1_chr15_101170727_101257048	101251479	G G	GGCCGCCG others(17): Show GGCCGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00642.hp1 others(25): Show HG00140.hp1 HG00609.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01515.hp1 HG02027.hp2 HG02109.hp2 HG02523.hp1 HG02886.hp2 NA18942.hp2 NA18943.hp2 NA18962.hp1 NA18973.hp2 NA18984.hp2 NA18990.hp2 NA19002.hp2 NA19064.hp2 NA19065.hp1 NA19075.hp1 NA20752.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0001c0004 a0001c0013 others(3): Show a0001c0003 a0001c0004 a0001c0013 a0003c0006 a0003c0017 a0004c0007	a0001c0003t0020 a0001c0004t0052 a0001c0013t0009 others(3): Show a0001c0003t0020 a0001c0004t0052 a0001c0013t0009 a0003c0006t0006 a0003c0017t0032 a0004c0007t0009	a0001c0003t0020g0291 a0001c0003t0020g0292 a0001c0003t0020g0293 others(25): Show a0001c0003t0020g0291 a0001c0003t0020g0292 a0001c0003t0020g0293 a0001c0004t0052g0300 a0001c0013t0009g0301 a0001c0013t0009g0302 a0003c0006t0006g0377 a0003c0006t0006g0378 a0003c0006t0006g0379 a0003c0006t0006g0380 a0003c0006t0006g0381 a0003c0006t0006g0383 a0003c0006t0006g0384 a0003c0006t0006g0385 a0003c0006t0006g0386 a0003c0006t0006g0387 a0003c0006t0006g0388 a0003c0006t0006g0389 a0003c0006t0006g0390 a0003c0006t0006g0391 a0003c0017t0032g0382 a0003c0017t0032g0392 a0004c0007t0009g0294 a0004c0007t0009g0295 a0004c0007t0009g0296 a0004c0007t0009g0297 a0004c0007t0009g0298 a0004c0007t0009g0299	28	422	0.0664	24	c.-24 others(31): Show c.-24_-23insGGCGGCGGCGGCGGCGGCGGCGGC	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	1/3	24		chr15	TogoVar
CHSY3_chr5_129899465_130191634	130125416	C C	CAGATAGA others(17): Show CAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	276	0.0036	24	c.108 others(45): Show c.1087-58797_1087-58774dupTAGATAGATAGATAGATAGATAGA	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCGCCCC others(17): Show GCCGCCCCGCCCCGCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00673.hp1 others(44): Show HG00423.hp1 HG00609.hp1 HG00673.hp1 HG01069.hp2 HG01192.hp2 HG01978.hp2 HG02015.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02735.hp1 HG03654.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 NA18747.hp2 NA18943.hp1 NA18945.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19005.hp2 NA19054.hp1 NA19066.hp1 NA19070.hp1 NA19080.hp1 NA19091.hp2	a0002 a0014 a0027 others(1): Show a0002 a0014 a0027 a0031	a0002c0002 a0002c0040 a0002c0075 others(4): Show a0002c0002 a0002c0040 a0002c0075 a0002c0078 a0014c0029 a0027c0037 a0031c0080	a0002c0002t0001 a0002c0040t0001 a0002c0075t0001 others(4): Show a0002c0002t0001 a0002c0040t0001 a0002c0075t0001 a0002c0078t0001 a0014c0029t0001 a0027c0037t0001 a0031c0080t0001	a0002c0002t0001g0001 a0002c0002t0001g0021 a0002c0002t0001g0225 others(13): Show a0002c0002t0001g0001 a0002c0002t0001g0021 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0231 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0240 a0002c0040t0001g0044 a0002c0075t0001g0230 a0002c0078t0001g0001 a0014c0029t0001g0198 a0027c0037t0001g0042 a0031c0080t0001g0001	47	428	0.1098	24	c.217 others(41): Show c.2176-103_2176-102insGCCCCGCCCCGCCCCTCCCCTCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CIART_chr1_150277554_150292093	150284003	T T	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG02717.hp2 others(1): Show HG01891.hp2 HG02559.hp2 HG02717.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0005 a0001c0007t0005 a0001c0003t0005 a0001c0007t0005	a0001c0003t0005g0015 a0001c0007t0005g0015 a0001c0003t0005g0015 a0001c0007t0005g0015	4	416	0.0096	24	c.442 others(39): Show c.442+129_442+152dupATTATTATTATTATTATTATTATT	CIART	ENSG00000159208.16	transcript	ENST00000290363.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
CIB4_chr2_26576205_26646366	26589054	T T	TTCTTCTT others(17): Show TTCTTCTTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	344	0.0029	24	c.329 others(41): Show c.329-5157_329-5156insGGAAGAAGAAGAAGAAGAAGAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26589060	C C	CTCTTCCT others(17): Show CTCTTCCTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0121 a0002c0002t0002g0121	1	344	0.0029	24	c.329 others(41): Show c.329-5163_329-5162insAGAAGAAGAAGAAGAAGAGGAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26589066	C C	CTCTTCTT others(17): Show CTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18968.hp2 NA18975.hp1 others(2): Show HG02129.hp1 NA18968.hp2 NA18975.hp1 NA18991.hp2 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0125 a0002c0002t0002g0083 a0002c0002t0002g0093 others(2): Show a0002c0002t0001g0125 a0002c0002t0002g0083 a0002c0002t0002g0093 a0002c0002t0002g0128 a0002c0002t0002g0158	5	344	0.0145	24	c.329 others(41): Show c.329-5169_329-5168insAGAAGAAGAAGAAGAAGAAGAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26589099	T T	TTCTTCTT others(17): Show TTCTTCTTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	344	0.0029	24	c.329 others(41): Show c.329-5202_329-5201insGGAAGAAGAAGAAGAAGAAGAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIBAR1_chr8_93695550_93736527	93697749	T T	TATATATA others(17): Show TATATATATATATACATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 NA18522.hp2 HG02145.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0113 a0001c0001t0003g0114	2	374	0.0054	24	c.-28 others(35): Show c.-2899_-2898insATATATATATATACATATATATAC	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2800		chr8	TogoVar
CIBAR1_chr8_93695550_93736527	93697754	A A	ATATATAT others(17): Show ATATATATATACATATATATACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	374	0.0027	24	c.-28 others(35): Show c.-2894_-2893insTATATATATACATATATATACATG	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2795		chr8	TogoVar
CIBAR1_chr8_93695550_93736527	93697763	T T	TACATATA others(17): Show TACATATATATACATGTATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	1	374	0.0027	24	c.-28 others(35): Show c.-2885_-2884insACATATATATACATGTATATACAC	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2786		chr8	TogoVar
CIBAR1_chr8_93695550_93736527	93697763	T T	TACATATA others(17): Show TACATATATATACATGTATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG01123.hp1 others(25): Show HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01516.hp2 HG01517.hp2 HG02055.hp1 HG02257.hp2 HG02559.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03130.hp2 HG03471.hp2 HG03516.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0002c0002t0004 a0003c0003t0001 a0003c0003t0023	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0015 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0003g0016 a0001c0001t0011g0112 a0002c0002t0004g0011 a0003c0003t0001g0007 a0003c0003t0001g0031 a0003c0003t0001g0036 a0003c0003t0001g0098 a0003c0003t0001g0111 a0003c0003t0023g0007	28	374	0.0749	24	c.-28 others(35): Show c.-2885_-2884insACATATATATACATGTATATATAC	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2786		chr8	TogoVar
CIC_chr19_42264252_42300796	42295500	T T	TGCAGGCC others(17): Show TGCAGGCCTTGGGCCACAGGGAGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0046 a0001c0001t0006g0046	1	196	0.0051	24	c.31 others(33): Show c.312_*335dupAGGCCTTGGGCCACAGGGAGGCGC	CIC	ENSG00000079432.9	transcript	ENST00000681038.1	protein_coding	21/21	336	INFO_REALIGN_3_PRIME	chr19	TogoVar
CIITA_chr16_10872202_10941394	10913942	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp1 HG01256.hp2 others(6): Show HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01361.hp2 HG02055.hp1 HG02897.hp2 HG03225.hp2 NA18522.hp2 NA18989.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0008 a0019	a0001c0001 a0001c0012 a0003c0007 others(3): Show a0001c0001 a0001c0012 a0003c0007 a0005c0006 a0008c0013 a0019c0039	a0001c0001t0032 a0001c0001t0122 a0001c0012t0102 others(6): Show a0001c0001t0032 a0001c0001t0122 a0001c0012t0102 a0003c0007t0002 a0005c0006t0026 a0005c0006t0112 a0008c0013t0003 a0008c0013t0010 a0019c0039t0040	a0001c0001t0032g0088 a0001c0001t0122g0065 a0001c0012t0102g0027 others(6): Show a0001c0001t0032g0088 a0001c0001t0122g0065 a0001c0012t0102g0027 a0003c0007t0002g0174 a0005c0006t0026g0209 a0005c0006t0112g0136 a0008c0013t0003g0054 a0008c0013t0010g0259 a0019c0039t0040g0029	9	392	0.0230	24	c.288 others(43): Show c.2889-1626_2889-1603dupAATAAATAAATAAATAAATAAATA	CIITA	ENSG00000179583.21	transcript	ENST00000324288.14	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
CINP_chr14_102343282_102367890	102359227	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA20805.hp1 HG00438.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0112 a0002c0003t0001g0111 a0001c0001t0001g0112 a0002c0003t0001g0111	2	420	0.0048	24	c.176 others(39): Show c.176+168_176+191dupATATATATATATATATATATATAT	CINP	ENSG00000100865.15	transcript	ENST00000216756.11	protein_coding	2/4			chr14	TogoVar
CIP2A_chr3_108544864_108594438	108569168	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02486.hp2 HG02723.hp2 others(3): Show HG00738.hp2 HG02486.hp2 HG02723.hp2 HG02809.hp2 HG02970.hp1 HG04228.hp1	a0001 a0012 a0014 a0001 a0012 a0014	a0001c0001 a0012c0020 a0014c0017 a0001c0001 a0012c0020 a0014c0017	a0001c0001t0001 a0012c0020t0001 a0014c0017t0001 a0001c0001t0001 a0012c0020t0001 a0014c0017t0001	a0001c0001t0001g0006 a0001c0001t0001g0128 a0001c0001t0001g0129 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0128 a0001c0001t0001g0129 a0012c0020t0001g0035 a0014c0017t0001g0342	6	372	0.0161	24	c.111 others(41): Show c.1113+220_1113+221insTATATATATATATATATATATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569179	T T	TATATATA others(17): Show TATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	372	0.0027	24	c.111 others(41): Show c.1113+209_1113+210insGTATGTATATATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569181	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0219 a0001c0009t0001g0219	1	372	0.0027	24	c.111 others(41): Show c.1113+207_1113+208insGTATATATATATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIR1_chr2_174343022_174400712	174356531	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	348	0.0029	24	c.485 others(41): Show c.485-4807_485-4806insCCTTCCTTCCTTCCTTCCTTCCTT	CIR1	ENSG00000138433.16	transcript	ENST00000342016.8	protein_coding	7/9			chr2	TogoVar
CIR1_chr2_174343022_174400712	174356531	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGACGG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	348	0.0029	24	c.485 others(41): Show c.485-4807_485-4806insCCGTCCTTCCTTCCTTCCTTCCTT	CIR1	ENSG00000138433.16	transcript	ENST00000342016.8	protein_coding	7/9			chr2	TogoVar
CKAP4_chr12_106232881_106253020	106237526	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG02922.hp1 HG01358.hp2 HG02922.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0003 a0003c0003t0008 a0002c0002t0003 a0003c0003t0008	a0002c0002t0003g0003 a0003c0003t0008g0013 a0002c0002t0003g0003 a0003c0003t0008g0013	2	418	0.0048	24	c.14 others(35): Show c.1497_*1498insTTTTTTTTTTTTTTTTTTTTTTTT	CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding		354		chr12	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATATA others(17): Show TATATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	294	0.0034	24	c.513 others(41): Show c.5133+441_5133+442insGTGTGTGTGTGTGTGTATATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar

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