Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CAV2_chr7_116494738_116513541	116498923	A A	AACACACA others(13): Show AACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01109.hp2 others(16): Show HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01167.hp1 HG01255.hp2 HG01433.hp2 HG01517.hp2 HG02630.hp1 HG02647.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp2 HG02976.hp1 HG03453.hp1 HG03669.hp1 NA19012.hp1 NA19240.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0002c0002t0020 a0001c0001t0001 a0002c0002t0004 a0002c0002t0020	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0048 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0048 a0002c0002t0004g0004 a0002c0002t0004g0007 a0002c0002t0004g0009 a0002c0002t0020g0004	19	374	0.0508	20	c.-85 others(29): Show c.-859_-858insACACACACACACACACACAC		CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding					814		chr7	TogoVar
CAV2_chr7_116494738_116513541	116503895	G G	GAGGGAGG others(13): Show GAGGGAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01256.hp2 HG01258.hp1 others(3): Show HG00738.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp1 HG01515.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	6	374	0.0160	20	c.339 others(37): Show c.339-2061_339-2060insAAGGAAGGGAGGGAGGGAGG		CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV3_chr3_8728802_8751758	8746799	T T	TCTCACAC others(13): Show TCTCACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 NA19240.hp2 HG03041.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0006 a0001c0005t0003g0006	2	476	0.0042	20	c.93 others(29): Show c.932_*933insCTCACACACACACACACACA		CAV3	ENSG00000182533.7	transcript	ENST00000343849.3	protein_coding					42		chr3	TogoVar
CAVIN1_chr17_42397449_42428256	42401668	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02630.hp1 HG02895.hp2 others(5): Show HG02559.hp2 HG02630.hp1 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG03195.hp2 HG03471.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0042 a0001c0001t0003g0062 others(5): Show a0001c0001t0003g0031 a0001c0001t0003g0042 a0001c0001t0003g0062 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0073 a0001c0001t0003g0074	8	338	0.0237	20	c.30 others(31): Show c.3018_*3019insTTTCTTTCTTTCTTTCTTTC		CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding					780		chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42411207	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	338	0.0030	20	c.472 others(37): Show c.472-5820_472-5819insGTTTTTTTTTTTTTTTTTTT		CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1						chr17	TogoVar
CBARP_chr19_1223287_1243005	1233478	G G	GACCTTGA others(13): Show GACCTTGAAATAGGGGCTGGC	frameshift_variant frameshift_variant	HIGH	HG01433.hp2 HG01433.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0001 a0011c0028t0001	a0011c0028t0001g0126 a0011c0028t0001g0126	1	408	0.0025	20	c.907 others(27): Show c.907_926dupGCCAGCCCCTATTTCAAGGT	p.Lys others(5): Show p.Lys310fs	CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding	8/10	1197/3281	926/2118	309/705			chr19	TogoVar
CBFA2T2_chr20_33485096_33655030	33529743	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02922.hp1 HG01261.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0002 a0001c0001t0008g0006 a0001c0001t0008g0002 a0001c0001t0008g0006	2	298	0.0067	20	c.34+ others(37): Show c.34+39443_34+39444insTTATATATATATATATATAT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33544940	T T	TAGAACAG others(13): Show TAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0014 a0001c0001t0015g0014	1	298	0.0034	20	c.34+ others(37): Show c.34+54648_34+54649insCAGAACAGAACAGAACAGAA		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33544945	C C	CAGAATAG others(13): Show CAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03139.hp1 NA18971.hp1 HG02809.hp2 HG03139.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 a0001c0001t0005 a0001c0001t0008 a0001c0001t0019	a0001c0001t0005g0130 a0001c0001t0008g0003 a0001c0001t0019g0117 a0001c0001t0005g0130 a0001c0001t0008g0003 a0001c0001t0019g0117	3	298	0.0101	20	c.34+ others(37): Show c.34+54694_34+54713dupTAGAATAGAATAGAATAGAA		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33544990	T T	TAGAACAG others(13): Show TAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01169.hp2 HG00738.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022	3	298	0.0101	20	c.34+ others(37): Show c.34+54693_34+54694insCAGAACAGAACAGAACAGAA		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33545010	T T	TAGAACAG others(13): Show TAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19030.hp1 HG02630.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0032 a0001c0001t0031 a0001c0001t0032	a0001c0001t0031g0068 a0001c0001t0032g0070 a0001c0001t0031g0068 a0001c0001t0032g0070	2	298	0.0067	20	c.34+ others(37): Show c.34+54723_34+54724insCAGAACAGAACAGAACAGAA		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33545010	T T	TAGAATAG others(13): Show TAGAATAGAATAGAATAGAAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	298	0.0034	20	c.34+ others(37): Show c.34+54713_34+54714insTAGAATAGAATAGAACAGAA		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33545439	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00735.hp2 others(14): Show HG00544.hp2 HG00558.hp2 HG00735.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG02109.hp2 HG02300.hp2 HG02630.hp2 HG02698.hp1 HG03669.hp1 NA18941.hp1 NA18960.hp1 NA18975.hp1 NA19030.hp1 NA19063.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0031 a0001c0001t0032 others(3): Show a0001c0001t0001 a0001c0001t0031 a0001c0001t0032 a0001c0001t0040 a0001c0001t0043 a0001c0003t0001	a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0238 others(14): Show a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0280 a0001c0001t0031g0068 a0001c0001t0032g0070 a0001c0001t0040g0295 a0001c0001t0043g0221 a0001c0003t0001g0232 a0001c0003t0001g0281	17	298	0.0571	20	c.34+ others(37): Show c.34+55153_34+55172dupTTTCTTTCTTTCTTTCTTTC		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33545470	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCTTTCG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03579.hp2 HG04199.hp1 HG03195.hp2 HG03579.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0030 a0001c0001t0001 a0001c0001t0014 a0001c0001t0030	a0001c0001t0001g0277 a0001c0001t0014g0293 a0001c0001t0030g0001 a0001c0001t0001g0277 a0001c0001t0014g0293 a0001c0001t0030g0001	3	298	0.0101	20	c.34+ others(37): Show c.34+55172_34+55173insTTTCTTTCTTTCTTTCGTTC		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33550608	G G	GTTATTTA others(13): Show GTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03453.hp1 HG02145.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0010 a0001c0001t0007g0013 a0001c0001t0007g0010 a0001c0001t0007g0013	2	298	0.0067	20	c.35- others(37): Show c.35-56339_35-56320dupTTATTTATTTATTTATTTAT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33621287	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG03453.hp1 others(1): Show HG02145.hp2 HG02257.hp1 HG03453.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0042 a0001c0001t0007 a0001c0001t0042	a0001c0001t0007g0008 a0001c0001t0007g0010 a0001c0001t0007g0013 others(1): Show a0001c0001t0007g0008 a0001c0001t0007g0010 a0001c0001t0007g0013 a0001c0001t0042g0194	4	298	0.0134	20	c.510 others(37): Show c.510+1688_510+1707dupTTTTTTTTTTTTTTTTTTTT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33631556	C C	CTCTTGCT others(13): Show CTCTTGCTGGAGTCATTCAGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 NA19030.hp1 others(2): Show HG02559.hp1 HG02630.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0031 a0001c0001t0032 a0001c0001t0015 a0001c0001t0031 a0001c0001t0032	a0001c0001t0015g0014 a0001c0001t0015g0015 a0001c0001t0015g0016 others(2): Show a0001c0001t0015g0014 a0001c0001t0015g0015 a0001c0001t0015g0016 a0001c0001t0031g0068 a0001c0001t0032g0070	5	298	0.0168	20	c.122 others(39): Show c.1228+1659_1228+1678dupCAGGTCTTGCTGGAGTCATT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88979796	G G	GGTGGATA others(13): Show GGTGGATAGATGGGTGAGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01168.hp2 others(9): Show HG01070.hp1 HG01071.hp1 HG01168.hp2 HG01258.hp2 HG01496.hp1 HG02004.hp2 HG02293.hp2 HG03239.hp2 NA18945.hp1 NA18966.hp1 NA18970.hp2 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0004c0023 a0001c0001 a0002c0004 a0004c0023	a0001c0001t0001 a0001c0001t0009 a0001c0001t0027 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0027 a0002c0004t0001 a0004c0023t0001	a0001c0001t0001g0098 a0001c0001t0001g0139 a0001c0001t0001g0157 others(9): Show a0001c0001t0001g0098 a0001c0001t0001g0139 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0009g0160 a0001c0001t0027g0156 a0002c0004t0001g0161 a0004c0023t0001g0280	12	284	0.0423	20	c.-29 others(31): Show c.-2990_-2989insTCACTCACCCATCTATCCAC		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding					2590		chr16	TogoVar
CBFB_chr16_67024149_67106058	67102119	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	212	0.0047	20	c.33 others(31): Show c.3341_*3342insTTTTTTTTTTTTTTTTTTTT		CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding					1062		chr16	TogoVar
CBLC_chr19_44772890_44805652	44784950	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0001	a0000c0002t0001g0262 a0000c0002t0001g0262	1	344	0.0029	20	c.917 others(35): Show c.917+569_917+588dupTTTTTTTTTTTTTTTTTTTT		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLIF_chr11_59824273_59850499	59834311	T T	TCTTTCTT others(13): Show TCTTTCTTTCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0048 a0003c0005t0001g0048	1	342	0.0029	20	c.107 others(39): Show c.1073+1496_1073+1497insGAAGGAAGGAAGAAAGAAAG		CBLIF	ENSG00000134812.8	transcript	ENST00000257248.3	protein_coding	7/8						chr11	TogoVar
CBLIF_chr11_59824273_59850499	59834311	T T	TCTTTCTT others(13): Show TCTTTCTTTCTTTCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02074.hp1 HG01123.hp2 HG02074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0118 a0002c0002t0001g0237 a0001c0001t0001g0118 a0002c0002t0001g0237	2	342	0.0059	20	c.107 others(39): Show c.1073+1496_1073+1497insGAAGGAAGAAAGAAAGAAAG		CBLIF	ENSG00000134812.8	transcript	ENST00000257248.3	protein_coding	7/8						chr11	TogoVar
CBLL2_chrX_22267913_22279461	22271960	G G	GGTTTTTT others(13): Show GGTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	346	0.0029	20	c.-10 others(31): Show c.-1032_-1031insGTTTTTTTTTTTTTTTTTTT		CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding					952		chrX	TogoVar
CBLL2_chrX_22267913_22279461	22271960	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	346	0.0029	20	c.-10 others(31): Show c.-1032_-1031insTTTTTTTTTTTTTTTTTTTT		CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding					952		chrX	TogoVar
CBL_chr11_119201339_119313149	119244581	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02630.hp2 HG03239.hp1 others(7): Show HG02071.hp1 HG02630.hp2 HG03239.hp1 HG03492.hp1 HG03579.hp2 NA18945.hp2 NA18982.hp1 NA19068.hp2 NA19088.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0026 a0001c0001t0046 others(1): Show a0001c0001t0001 a0001c0001t0026 a0001c0001t0046 a0003c0005t0008	a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0174 others(7): Show a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0174 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0237 a0001c0001t0026g0220 a0001c0001t0046g0347 a0003c0005t0008g0346	10	364	0.0275	20	c.443 others(39): Show c.443+11904_443+11905insTTTTTTTTTTTTTTTTTTTT		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119264383	T T	TTTCTCTT others(13): Show TTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG02622.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0023 a0001c0001t0013 a0001c0001t0023	a0001c0001t0013g0025 a0001c0001t0023g0033 a0001c0001t0013g0025 a0001c0001t0023g0033	2	364	0.0055	20	c.444 others(37): Show c.444-7348_444-7347insCTTCTCTTCTCTTCTCTTCT		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119264388	T T	TTTCTCTT others(13): Show TTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01099.hp1 HG01167.hp1 others(19): Show HG00438.hp2 HG01099.hp1 HG01167.hp1 HG01192.hp2 HG01256.hp2 HG02004.hp2 HG02486.hp1 HG02486.hp2 HG02735.hp2 HG02738.hp2 HG02970.hp2 HG03139.hp2 HG03225.hp1 HG06807.hp1 NA18747.hp1 NA18968.hp1 NA18969.hp1 NA18978.hp1 NA18979.hp2 NA18998.hp1 NA19043.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0001c0001t0028 a0001c0001t0039 a0001c0001t0044 a0001c0002t0006	a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0066 others(19): Show a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0169 a0001c0001t0005g0241 a0001c0001t0017g0100 a0001c0001t0017g0102 a0001c0001t0028g0245 a0001c0001t0028g0247 a0001c0001t0039g0110 a0001c0001t0044g0242 a0001c0002t0006g0034 a0001c0002t0006g0035 a0001c0002t0006g0038 a0001c0002t0006g0042 a0001c0002t0006g0043	22	364	0.0604	20	c.444 others(37): Show c.444-7312_444-7293dupCTTCTCTTCTCTTCTCTTCT		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119277239	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19030.hp2 HG02615.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0020 a0001c0001t0014 a0001c0001t0020	a0001c0001t0014g0265 a0001c0001t0020g0264 a0001c0001t0014g0265 a0001c0001t0020g0264	2	364	0.0055	20	c.100 others(37): Show c.1008-517_1008-516insACACACACACACACACACAC		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119277241	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0252 a0001c0001t0061g0252	1	364	0.0028	20	c.100 others(37): Show c.1008-505_1008-486dupCACACACACACACACACACA		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119283625	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA19060.hp2 HG01255.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0222 a0001c0001t0001g0183 a0001c0001t0001g0222	2	364	0.0055	20	c.143 others(39): Show c.1432-1333_1432-1314dupTTTTTTTTTTTTTTTTTTTT		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
CBR3_chr21_36130079_36151562	36142439	A A	AAAAAAAA others(13): Show AAAAAAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG01175.hp1 others(14): Show HG00639.hp1 HG01106.hp2 HG01175.hp1 HG01516.hp2 HG01978.hp1 HG02055.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02630.hp1 HG03225.hp1 HG03453.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1 NA19240.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0014 a0005c0005t0001g0050 a0005c0005t0001g0051 others(9): Show a0005c0005t0001g0014 a0005c0005t0001g0050 a0005c0005t0001g0051 a0005c0005t0001g0263 a0005c0005t0001g0285 a0005c0005t0001g0286 a0005c0005t0001g0287 a0005c0005t0001g0288 a0005c0005t0001g0289 a0005c0005t0001g0290 a0005c0005t0001g0291 a0005c0005t0001g0292	17	424	0.0401	20	c.398 others(37): Show c.398-3630_398-3629insCAAACAAACAAACAAAAAAA		CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr21	TogoVar
CBR3_chr21_36130079_36151562	36146917	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	424	0.0024	20	c.40 others(29): Show c.405_*406insTTTTTTTTTTTTTTTTTTTT		CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding					356		chr21	TogoVar
CBX1_chr17_48065059_48106478	48073824	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	396	0.0025	20	c.413 others(37): Show c.413+1162_413+1181dupTTTTTTTTTTTTTTTTTTTT		CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	4/4						chr17	TogoVar
CBX1_chr17_48065059_48106478	48080951	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	396	0.0025	20	c.-37 others(37): Show c.-37-3911_-37-3910insATATATATATTTTTTTTTTT		CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4						chr17	TogoVar
CBY3_chr5_179673560_179686034	179676225	T T	TACACACA others(13): Show TACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	412	0.0024	20	c.23 others(31): Show c.2357_*2358insGTGTGTGTGTGTGTGTGTGT		CBY3	ENSG00000204659.5	transcript	ENST00000376974.5	protein_coding					2334		chr5	TogoVar
CC2D2A_chr4_15464882_15606552	15500107	G G	GTGTGTGT others(13): Show GTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	344	0.0029	20	c.248 others(37): Show c.248-2321_248-2320insGTGTGTGTATATATATATAT		CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	4/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2B_chr10_95902975_96038745	95926840	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0045 a0007c0009t0001g0045	1	312	0.0032	20	c.241 others(35): Show c.241-390_241-389insGTGTGTGTGTGTCTGTGTGT		CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	5/34					INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95926842	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03688.hp1 HG01081.hp1 HG03688.hp1	a0003 a0011 a0003 a0011	a0003c0003 a0011c0032 a0003c0003 a0011c0032	a0003c0003t0001 a0011c0032t0001 a0003c0003t0001 a0011c0032t0001	a0003c0003t0001g0030 a0011c0032t0001g0017 a0003c0003t0001g0030 a0011c0032t0001g0017	2	312	0.0064	20	c.241 others(35): Show c.241-390_241-389insGTGTGTGTGTGTGTCTGTGT		CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	5/34					INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	96003021	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0151 a0010c0011t0002g0151	1	312	0.0032	20	c.285 others(39): Show c.2850-1127_2850-1108dupTATATATATATATATATATA		CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	24/34					INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	96025170	T T	TATAAAAA others(13): Show TATAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18962.hp2 NA19000.hp1 others(1): Show NA18951.hp1 NA18962.hp2 NA19000.hp1 NA19088.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0167 a0004c0004t0001g0169 a0004c0004t0001g0170 others(1): Show a0004c0004t0001g0167 a0004c0004t0001g0169 a0004c0004t0001g0170 a0004c0004t0001g0171	4	312	0.0128	20	c.394 others(37): Show c.3947+262_3947+263insAAAAAAAAAAAAAAAAAATA		CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	33/34					INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	96029262	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	312	0.0032	20	c.412 others(39): Show c.4125+1892_4125+1893insGTATATATATATATATATAT		CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	34/34					INFO_REALIGN_3_PRIME	chr10	TogoVar
CCAR2_chr8_22599757_22625471	22611388	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03225.hp2 HG06807.hp1 HG02280.hp1 HG03225.hp2 HG06807.hp1	a0001 a0007 a0001 a0007	a0001c0004 a0001c0028 a0007c0013 a0001c0004 a0001c0028 a0007c0013	a0001c0004t0003 a0001c0028t0005 a0007c0013t0024 a0001c0004t0003 a0001c0028t0005 a0007c0013t0024	a0001c0004t0003g0073 a0001c0028t0005g0098 a0007c0013t0024g0090 a0001c0004t0003g0073 a0001c0028t0005g0098 a0007c0013t0024g0090	3	376	0.0080	20	c.585 others(37): Show c.585-1612_585-1611insGTGTGTGTGTGTGTGTGTGT		CCAR2	ENSG00000158941.17	transcript	ENST00000308511.9	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr8	TogoVar
CCAR2_chr8_22599757_22625471	22611404	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA21309.hp1 HG03225.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0041 a0001c0003t0006g0041	2	376	0.0053	20	c.585 others(37): Show c.585-1612_585-1611insGTGTGTGTGTGTGTGTGTAT		CCAR2	ENSG00000158941.17	transcript	ENST00000308511.9	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr8	TogoVar
CCBE1_chr18_59425939_59702423	59460936	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG04204.hp2 HG02723.hp1 HG04204.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0001 a0001c0001t0003 a0003c0004t0001	a0001c0001t0003g0149 a0003c0004t0001g0015 a0001c0001t0003g0149 a0003c0004t0001g0015	2	242	0.0083	20	c.553 others(37): Show c.553+5783_553+5802dupATTTATTTATTTATTTATTT		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	5/10						chr18	TogoVar
CCBE1_chr18_59425939_59702423	59522993	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01517.hp2 HG02132.hp1 others(2): Show HG00544.hp2 HG01517.hp2 HG02132.hp1 HG03927.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0001 a0001c0001t0004 a0001c0001t0014	a0001c0001t0001g0025 a0001c0001t0001g0187 a0001c0001t0001g0224 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0187 a0001c0001t0001g0224 a0001c0001t0004g0134 a0001c0001t0014g0090	5	242	0.0207	20	c.213 others(39): Show c.213-42775_213-42756dupTTTTTTTTTTTTTTTTTTTT		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10						chr18	TogoVar
CCBE1_chr18_59425939_59702423	59543834	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	242	0.0041	20	c.213 others(39): Show c.213-63616_213-63597dupTTTTTTTTTTTTTTTTTTTT		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10						chr18	TogoVar
CCBE1_chr18_59425939_59702423	59573284	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18950.hp2 NA19010.hp2 HG02523.hp1 NA18950.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 a0001c0001t0001 a0001c0001t0008 a0001c0001t0020	a0001c0001t0001g0048 a0001c0001t0008g0063 a0001c0001t0020g0052 a0001c0001t0001g0048 a0001c0001t0008g0063 a0001c0001t0020g0052	3	242	0.0124	20	c.213 others(39): Show c.213-93047_213-93046insATATATATATATATATATAT		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10						chr18	TogoVar
CCBE1_chr18_59425939_59702423	59613886	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	242	0.0041	20	c.212 others(39): Show c.212+82742_212+82743insCAAAAAAAAAAAAAAAAAAA		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10						chr18	TogoVar
CCDC102A_chr16_57507181_57541571	57515617	T T	TTCCTCTC others(13): Show TTCCTCTCCATCCCCTTTGCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03209.hp2 HG03130.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0137 a0001c0001t0010g0138 a0001c0001t0010g0137 a0001c0001t0010g0138	2	416	0.0048	20	c.142 others(37): Show c.1420-193_1420-174dupGGCAAAGGGGATGGAGAGGA		CCDC102A	ENSG00000135736.6	transcript	ENST00000258214.3	protein_coding	7/8						chr16	TogoVar
CCDC102A_chr16_57507181_57541571	57520536	A A	AATAACAT others(13): Show AATAACATAACATAACATAAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01109.hp1 others(16): Show HG00609.hp1 HG00609.hp2 HG01109.hp1 HG01192.hp1 HG01952.hp1 HG02135.hp2 HG02970.hp2 HG03130.hp2 HG04199.hp1 NA18747.hp2 NA18957.hp2 NA18970.hp1 NA18983.hp1 NA18984.hp2 NA18994.hp2 NA19005.hp1 NA19010.hp1 NA19062.hp2 NA19088.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0005c0013	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0024 a0001c0002t0002 a0001c0002t0009 a0001c0004t0010 a0005c0013t0010	a0001c0001t0003g0208 a0001c0001t0005g0030 a0001c0001t0005g0116 others(14): Show a0001c0001t0003g0208 a0001c0001t0005g0030 a0001c0001t0005g0116 a0001c0001t0005g0174 a0001c0001t0005g0182 a0001c0001t0006g0031 a0001c0001t0006g0154 a0001c0001t0006g0175 a0001c0001t0006g0178 a0001c0001t0014g0056 a0001c0001t0016g0157 a0001c0001t0017g0190 a0001c0001t0024g0242 a0001c0002t0002g0086 a0001c0002t0009g0114 a0001c0004t0010g0067 a0005c0013t0010g0066	19	416	0.0457	20	c.921 others(35): Show c.921+512_921+531dupGTTATGTTATGTTATGTTAT		CCDC102A	ENSG00000135736.6	transcript	ENST00000258214.3	protein_coding	4/8						chr16	TogoVar

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