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
CATSPERG_chr19_38330830_38375943	38344870	CACACACA others(7): Show CACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01070.hp2 HG02027.hp2 others(13): Show HG00438.hp2 HG01070.hp2 HG02027.hp2 HG02071.hp2 HG02083.hp2 NA18939.hp2 NA18950.hp2 NA18957.hp1 NA18963.hp2 NA18971.hp2 NA18981.hp2 NA18995.hp2 NA19003.hp2 NA19010.hp1 NA19064.hp2 NA19065.hp1	a0002 a0006 a0002 a0006	a0002c0003 a0006c0010 a0002c0003 a0006c0010	a0002c0003t0001 a0006c0010t0001 a0002c0003t0001 a0006c0010t0001	a0002c0003t0001g0030 a0002c0003t0001g0033 a0002c0003t0001g0034 others(13): Show a0002c0003t0001g0030 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0195 a0006c0010t0001g0031 a0006c0010t0001g0032	16	376	0.0426	-14	c.669 others(29): Show c.669+504_669+517delCACACACACACATA		CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
CAT_chr11_34433934_34477060	34474653	AACTCCAT others(7): Show AACTCCATCTTAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02258.hp1 others(17): Show HG01884.hp2 HG01891.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02809.hp1 HG02922.hp1 HG03098.hp2 HG03471.hp1 NA18949.hp2 NA18952.hp2 NA18955.hp2 NA18971.hp2 NA19004.hp2 NA19056.hp2 NA19086.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0014 a0001c0003t0002g0021 a0001c0003t0002g0039 others(11): Show a0001c0003t0002g0014 a0001c0003t0002g0021 a0001c0003t0002g0039 a0001c0003t0002g0146 a0001c0003t0002g0147 a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0150 a0001c0003t0002g0151 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0158	20	424	0.0472	-14	c.32 others(25): Show c.3221_*3234delACTCCATCTTAGAG		CAT	ENSG00000121691.7	transcript	ENST00000241052.5	protein_coding					2594		chr11	TogoVar
CAVIN1_chr17_42397449_42428256	42401693	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01169.hp1 HG01361.hp2 others(9): Show HG01099.hp1 HG01169.hp1 HG01361.hp2 HG01433.hp1 HG01952.hp1 HG02258.hp2 HG03130.hp2 HG03669.hp2 NA18612.hp2 NA19087.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0024 a0001c0001t0027	a0001c0001t0001g0125 a0001c0001t0001g0160 a0001c0001t0002g0247 others(9): Show a0001c0001t0001g0125 a0001c0001t0001g0160 a0001c0001t0002g0247 a0001c0001t0002g0254 a0001c0001t0002g0293 a0001c0001t0003g0082 a0001c0001t0006g0064 a0001c0001t0011g0229 a0001c0001t0013g0227 a0001c0001t0013g0230 a0001c0001t0024g0078 a0001c0001t0027g0090	12	338	0.0355	-14	c.29 others(25): Show c.2980_*2993delTTCTTTCTTTCTTT		CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding					755		chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42410892	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01167.hp2 HG01175.hp2 others(22): Show HG00621.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG02080.hp1 HG02257.hp2 HG02738.hp1 HG02809.hp2 HG03209.hp1 HG04115.hp1 HG04199.hp2 NA18953.hp2 NA18956.hp1 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18979.hp2 NA18982.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA19003.hp1 NA19070.hp1 NA19083.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0021	a0001c0001t0001g0092 a0001c0001t0001g0159 a0001c0001t0001g0162 others(22): Show a0001c0001t0001g0092 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0180 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0263 a0001c0001t0002g0256 a0001c0001t0002g0267 a0001c0001t0002g0279 a0001c0001t0004g0116 a0001c0001t0004g0126 a0001c0001t0005g0157 a0001c0001t0005g0169 a0001c0001t0005g0202 a0001c0001t0005g0284 a0001c0001t0006g0158 a0001c0001t0014g0148 a0001c0001t0021g0199	25	338	0.0740	-14	c.472 others(31): Show c.472-5518_472-5505delTTTTTTTTTTTTTT		CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1						chr17	TogoVar
CBFA2T2_chr20_33485096_33655030	33529743	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00735.hp2 others(50): Show HG00544.hp2 HG00558.hp2 HG00735.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01516.hp1 HG01517.hp1 HG02083.hp1 HG02132.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03209.hp2 HG03225.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18957.hp1 NA18960.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18982.hp2 NA18994.hp1 NA19001.hp1 NA19010.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19066.hp2 NA19070.hp2 NA19075.hp1 NA19079.hp2 NA19082.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0021 a0001c0001t0030 a0001c0001t0042 a0001c0001t0043 a0001c0002t0020 a0001c0003t0001	a0001c0001t0001g0159 a0001c0001t0001g0195 a0001c0001t0001g0222 others(50): Show a0001c0001t0001g0159 a0001c0001t0001g0195 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0003g0149 a0001c0001t0005g0078 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0005g0099 a0001c0001t0021g0265 a0001c0001t0021g0278 a0001c0001t0030g0001 a0001c0001t0042g0194 a0001c0001t0043g0221 a0001c0002t0020g0271 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0229 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0001g0233 a0001c0003t0001g0260 a0001c0003t0001g0266 a0001c0003t0001g0281	53	298	0.1779	-14	c.34+ others(31): Show c.34+39468_34+39481delATATATATATATAT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33642108	TTTTTTTT others(7): Show TTTTTTTTTTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG02132.hp2 others(4): Show HG01256.hp1 HG01258.hp1 HG02132.hp2 NA18960.hp1 NA18975.hp1 NA19063.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0015 a0001c0003t0001 a0001c0001t0001 a0001c0001t0015 a0001c0003t0001	a0001c0001t0001g0241 a0001c0001t0001g0251 a0001c0001t0001g0254 others(4): Show a0001c0001t0001g0241 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0261 a0001c0001t0001g0280 a0001c0001t0015g0016 a0001c0003t0001g0232	7	298	0.0235	-14	c.148 others(33): Show c.1488+1579_1488+1592delTTTTTTTTGTGTGT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33642110	TTTTTTTT others(7): Show TTTTTTTTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG00735.hp2 others(47): Show HG00597.hp1 HG00621.hp2 HG00735.hp2 HG01106.hp1 HG01175.hp2 HG01255.hp1 HG01516.hp1 HG01517.hp1 HG02015.hp1 HG02083.hp1 HG02300.hp2 HG02698.hp1 HG03017.hp1 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18945.hp1 NA18956.hp1 NA18957.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18982.hp2 NA18988.hp2 NA18994.hp1 NA18998.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19010.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19075.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0033 a0001c0001t0042 others(2): Show a0001c0001t0001 a0001c0001t0033 a0001c0001t0042 a0001c0001t0043 a0001c0003t0001	a0001c0001t0001g0159 a0001c0001t0001g0220 a0001c0001t0001g0222 others(47): Show a0001c0001t0001g0159 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0298 a0001c0001t0033g0052 a0001c0001t0042g0194 a0001c0001t0043g0221 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0229 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0233 a0001c0003t0001g0260 a0001c0003t0001g0266 a0001c0003t0001g0281 a0001c0003t0001g0297	50	298	0.1678	-14	c.148 others(33): Show c.1488+1581_1488+1594delTTTTTTGTGTGTGT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33642114	TTTTGTGT others(7): Show TTTTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA19075.hp2 HG04199.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0277 a0001c0001t0019g0082 a0001c0001t0001g0277 a0001c0001t0019g0082	2	298	0.0067	-14	c.148 others(33): Show c.1488+1585_1488+1598delTTGTGTGTGTGTGT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33643753	CTATATAT others(7): Show CTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18968.hp2 NA19082.hp2 others(1): Show HG04228.hp2 NA18968.hp2 NA19082.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0106 a0001c0001t0003g0108 others(1): Show a0001c0001t0003g0101 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0112	4	298	0.0134	-14	c.148 others(31): Show c.1489-543_1489-530delTATATATATATATA		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88882407	GTGGCTGT others(7): Show GTGGCTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp2 HG03209.hp2 HG02559.hp1 HG02717.hp2 HG03209.hp2	a0001 a0001	a0001c0009 a0001c0015 a0001c0009 a0001c0015	a0001c0009t0007 a0001c0009t0015 a0001c0015t0007 a0001c0009t0007 a0001c0009t0015 a0001c0015t0007	a0001c0009t0007g0100 a0001c0009t0015g0083 a0001c0015t0007g0115 a0001c0009t0007g0100 a0001c0009t0015g0083 a0001c0015t0007g0115	3	284	0.0106	-14	c.120 others(31): Show c.1203+255_1203+268delTACACACACAGCCA		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	8/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88882578	GTGGCTGT others(7): Show GTGGCTGTGTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00621.hp2 others(19): Show HG00597.hp1 HG00609.hp2 HG00621.hp2 HG01243.hp1 HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG03209.hp2 HG03579.hp1 NA18522.hp1 NA18947.hp2 NA18998.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 others(4): Show a0001c0001 a0001c0003 a0001c0009 a0001c0010 a0001c0015 a0001c0020 a0001c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0001c0003t0002 a0001c0003t0011 a0001c0009t0007 a0001c0009t0015 a0001c0010t0002 a0001c0015t0007 a0001c0020t0029 a0001c0021t0011	a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0055 others(19): Show a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0196 a0001c0001t0001g0226 a0001c0001t0002g0255 a0001c0001t0002g0265 a0001c0001t0025g0099 a0001c0003t0002g0253 a0001c0003t0011g0007 a0001c0009t0007g0100 a0001c0009t0015g0083 a0001c0010t0002g0281 a0001c0010t0002g0282 a0001c0015t0007g0115 a0001c0020t0029g0111 a0001c0021t0011g0077	22	284	0.0775	-14	c.120 others(29): Show c.1203+84_1203+97delTGCACACACAGCCA		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	8/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88905696	AGGAGGGG others(7): Show AGGAGGGGCGGGGCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0011 a0001c0021t0011	a0001c0021t0011g0077 a0001c0021t0011g0077	1	284	0.0035	-14	c.152 others(31): Show c.152-4054_152-4041delAGCCCCGCCCCTCC		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88905727	AGGAGGGG others(7): Show AGGAGGGGCGGGACT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp2 NA19004.hp2 others(2): Show HG02559.hp1 HG02717.hp2 NA19004.hp2 NA19005.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0003t0004 a0001c0009t0007 others(1): Show a0001c0003t0001 a0001c0003t0004 a0001c0009t0007 a0001c0009t0015	a0001c0003t0001g0204 a0001c0003t0004g0199 a0001c0003t0004g0200 others(2): Show a0001c0003t0001g0204 a0001c0003t0004g0199 a0001c0003t0004g0200 a0001c0009t0007g0100 a0001c0009t0015g0083	5	284	0.0176	-14	c.152 others(31): Show c.152-4085_152-4072delAGTCCCGCCCCTCC		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88915717	GAGGGGGA others(7): Show GAGGGGGAGCGTGGA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03704.hp2 HG02602.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0125 a0001c0001t0001g0021 a0001c0001t0001g0125	2	284	0.0070	-14	c.152 others(33): Show c.152-14075_152-14062delTCCACGCTCCCCCT		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88978369	ACCCGGGG others(7): Show ACCCGGGGCCTCCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	284	0.0035	-14	c.-15 others(25): Show c.-1576_-1563delGGGGAGGCCCCGGG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding					1163		chr16	TogoVar
CBFB_chr16_67024149_67106058	67051912	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	212	0.0047	-14	c.283 others(33): Show c.283-14751_283-14738delACACACACACACAC		CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
CBLB_chr3_105650461_105874012	105665404	AATAAATA others(7): Show AATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0037 a0001c0004t0037	a0001c0004t0037g0165 a0001c0004t0037g0165	1	380	0.0026	-14	c.268 others(33): Show c.2689+4815_2689+4828delATTTATTTATTTAT		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18						chr3	TogoVar
CBLB_chr3_105650461_105874012	105665408	AATAAATA others(7): Show AATAAATAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02258.hp1 HG02451.hp2 others(4): Show HG00735.hp2 HG02258.hp1 HG02451.hp2 HG02723.hp2 HG02976.hp1 HG03098.hp1 HG03471.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0014 a0002c0005t0020 a0002c0005t0014 a0002c0005t0020	a0002c0005t0014g0002 a0002c0005t0014g0009 a0002c0005t0014g0010 others(4): Show a0002c0005t0014g0002 a0002c0005t0014g0009 a0002c0005t0014g0010 a0002c0005t0014g0011 a0002c0005t0020g0216 a0002c0005t0020g0285 a0002c0005t0020g0286	7	380	0.0184	-14	c.268 others(33): Show c.2689+4811_2689+4824delATATATTTATTTAT		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18						chr3	TogoVar
CBLB_chr3_105650461_105874012	105665412	AATAAATA others(7): Show AATAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00558.hp1 others(70): Show HG00099.hp1 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01891.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02717.hp1 HG03831.hp2 HG03834.hp2 NA18612.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18959.hp2 NA18961.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19079.hp1 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0013 a0001c0014 others(2): Show a0001c0001 a0001c0013 a0001c0014 a0003c0006 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0028 a0001c0001t0029 a0001c0013t0001 a0001c0014t0021 a0003c0006t0001 a0004c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0043 others(70): Show a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0003g0163 a0001c0001t0011g0048 a0001c0001t0011g0050 a0001c0001t0011g0070 a0001c0001t0011g0086 a0001c0001t0011g0093 a0001c0001t0015g0047 a0001c0001t0015g0059 a0001c0001t0015g0067 a0001c0001t0015g0076 a0001c0001t0018g0057 a0001c0001t0018g0085 a0001c0001t0018g0097 a0001c0001t0028g0108 a0001c0001t0029g0109 a0001c0013t0001g0040 a0001c0013t0001g0041 a0001c0014t0021g0301 a0001c0014t0021g0302 a0003c0006t0001g0037 a0003c0006t0001g0038 a0003c0006t0001g0039 a0003c0006t0001g0046 a0003c0006t0001g0087 a0003c0006t0001g0098 a0004c0010t0001g0074 a0004c0010t0001g0075	73	380	0.1921	-14	c.268 others(33): Show c.2689+4807_2689+4820delATATATATATTTAT		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18						chr3	TogoVar
CBLB_chr3_105650461_105874012	105665432	TATATATA others(7): Show TATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00609.hp2 others(77): Show HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01123.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG01952.hp1 HG01993.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp2 HG03139.hp1 HG03195.hp1 HG03486.hp2 HG03491.hp1 HG03704.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18954.hp2 NA18959.hp1 NA18962.hp1 NA18965.hp2 NA18967.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp2 NA18987.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19009.hp2 NA19010.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19084.hp1 NA19087.hp2 NA19090.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0016 others(1): Show a0001c0001 a0001c0003 a0001c0016 a0001c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0019 a0001c0001t0032 a0001c0001t0035 a0001c0003t0005 a0001c0016t0003 a0001c0017t0003	a0001c0001t0001g0056 a0001c0001t0003g0111 a0001c0001t0003g0115 others(77): Show a0001c0001t0001g0056 a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0164 a0001c0001t0016g0138 a0001c0001t0016g0139 a0001c0001t0016g0140 a0001c0001t0016g0141 a0001c0001t0019g0112 a0001c0001t0019g0113 a0001c0001t0019g0114 a0001c0001t0032g0123 a0001c0001t0035g0157 a0001c0003t0005g0308 a0001c0003t0005g0309 a0001c0003t0005g0310 a0001c0003t0005g0311 a0001c0003t0005g0313 a0001c0003t0005g0314 a0001c0003t0005g0315 a0001c0003t0005g0316 a0001c0003t0005g0317 a0001c0003t0005g0318 a0001c0003t0005g0319 a0001c0003t0005g0320 a0001c0003t0005g0321 a0001c0003t0005g0322 a0001c0003t0005g0323 a0001c0003t0005g0324 a0001c0003t0005g0325 a0001c0003t0005g0326 a0001c0003t0005g0327 a0001c0003t0005g0330 a0001c0003t0005g0331 a0001c0003t0005g0332 a0001c0003t0005g0333 a0001c0003t0005g0334 a0001c0003t0005g0335 a0001c0003t0005g0336 a0001c0003t0005g0337 a0001c0003t0005g0338 a0001c0003t0005g0339 a0001c0003t0005g0340 a0001c0003t0005g0341 a0001c0016t0003g0131 a0001c0017t0003g0162	80	380	0.2105	-14	c.268 others(33): Show c.2689+4787_2689+4800delGTGTATATATATAT		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18						chr3	TogoVar
CBLB_chr3_105650461_105874012	105754509	GAGAGAGA others(7): Show GAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0298 a0001c0002t0008g0298	1	380	0.0026	-14	c.567 others(31): Show c.567-2905_567-2892delGTCTCTCTCTCTCT		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	4/18						chr3	TogoVar
CBLB_chr3_105650461_105874012	105829666	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0013 a0001c0002t0007g0013	1	380	0.0026	-14	c.419 others(33): Show c.419+23734_419+23747delTTTTTTTTTTTTTT		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18						chr3	TogoVar
CBLB_chr3_105650461_105874012	105847392	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0336 a0001c0003t0005g0336	1	380	0.0026	-14	c.419 others(31): Show c.419+6008_419+6021delTGTGTGTGTGTGTG		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18						chr3	TogoVar
CBLL1_chr7_107739142_107766667	107764446	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03669.hp1 HG02055.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0067 a0001c0003t0002g0027 a0001c0001t0001g0067 a0001c0003t0002g0027	2	432	0.0046	-14	c.52 others(25): Show c.5269_*5282delTGTGTGTGTGTGTG		CBLL1	ENSG00000105879.13	transcript	ENST00000440859.8	protein_coding					2780		chr7	TogoVar
CBLL2_chrX_22267913_22279461	22271960	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG01884.hp2 others(11): Show HG00423.hp1 HG00544.hp2 HG01884.hp2 HG03453.hp1 HG04184.hp1 NA18963.hp1 NA18964.hp1 NA18976.hp1 NA18979.hp1 NA18982.hp1 NA19058.hp1 NA19064.hp2 NA19087.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0001c0001t0001 a0002c0002t0001 a0002c0003t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0003t0001g0000 a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0003t0001g0000	14	346	0.0405	-14	c.-10 others(25): Show c.-1031_-1018delTTTTTTTTTTTTTT		CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding					952		chrX	TogoVar
CBLN2_chr18_72531681_72549342	72542909	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA19057.hp1 NA20805.hp1 NA18993.hp1 NA19057.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0020 a0001c0001t0001 a0001c0002t0001 a0001c0002t0020	a0001c0001t0001g0149 a0001c0002t0001g0135 a0001c0002t0020g0064 a0001c0001t0001g0149 a0001c0002t0001g0135 a0001c0002t0020g0064	3	416	0.0072	-14	c.-16 others(31): Show c.-167+563_-167+576delTGTGTGTGTGTGTG		CBLN2	ENSG00000141668.10	transcript	ENST00000269503.9	protein_coding	2/4						chr18	TogoVar
CBLN2_chr18_72531681_72549342	72547110	TCACACAC others(7): Show TCACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA19054.hp1 NA19081.hp2 NA18956.hp2 NA19054.hp1 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0005 a0001c0003t0002g0014 a0001c0003t0002g0021 a0001c0003t0002g0005 a0001c0003t0002g0014 a0001c0003t0002g0021	3	416	0.0072	-14	c.-33 others(25): Show c.-3359_-3346delTGTGTGTGTGTGTG		CBLN2	ENSG00000141668.10	transcript	ENST00000269503.9	protein_coding					2769		chr18	TogoVar
CBLN4_chr20_55992357_56010519	56010246	GTCTCTCT others(7): Show GTCTCTCTCTCTCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00733.hp1 others(52): Show HG00280.hp2 HG00323.hp1 HG00733.hp1 HG00741.hp1 HG01109.hp1 HG01167.hp2 HG01243.hp1 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18941.hp1 NA18941.hp2 NA18977.hp1 NA18977.hp2 NA18989.hp2 NA18992.hp2 NA19030.hp2 NA19055.hp2 NA19068.hp2 NA19072.hp1 NA19075.hp2 NA19088.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0002g0002 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0065 a0001c0001t0003g0004 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0006g0007 a0001c0001t0011g0016 a0001c0001t0012g0022 a0001c0001t0012g0066 a0001c0001t0014g0035 a0001c0001t0015g0019 a0001c0001t0016g0024 a0001c0001t0021g0034 a0001c0001t0024g0038 a0001c0001t0025g0039 a0001c0001t0026g0041	55	426	0.1291	-14	c.-60 others(25): Show c.-6089_-6076delGAGAGAGAGAGAGA		CBLN4	ENSG00000054803.4	transcript	ENST00000064571.3	protein_coding					4728		chr20	TogoVar
CBL_chr11_119201339_119313149	119245956	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG02145.hp1 others(16): Show HG00642.hp1 HG01099.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG02886.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG06807.hp1 NA18906.hp2 NA19043.hp2 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0008 a0001c0001 a0001c0002 a0008c0008	a0001c0001t0005 a0001c0001t0044 a0001c0001t0061 others(5): Show a0001c0001t0005 a0001c0001t0044 a0001c0001t0061 a0001c0002t0006 a0001c0002t0022 a0001c0002t0024 a0001c0002t0047 a0008c0008t0005	a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0239 others(16): Show a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0044g0242 a0001c0001t0061g0252 a0001c0002t0006g0034 a0001c0002t0006g0035 a0001c0002t0006g0038 a0001c0002t0006g0041 a0001c0002t0006g0042 a0001c0002t0006g0043 a0001c0002t0022g0040 a0001c0002t0022g0045 a0001c0002t0024g0036 a0001c0002t0024g0039 a0001c0002t0047g0044 a0008c0008t0005g0243	19	364	0.0522	-14	c.443 others(33): Show c.443+13282_443+13295delTTTTTTTTTTTTTT		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119264428	CTTCTCTT others(7): Show CTTCTCTTCTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00609.hp2 others(27): Show HG00408.hp1 HG00438.hp1 HG00609.hp2 HG00639.hp1 HG01069.hp1 HG01071.hp2 HG01192.hp1 HG01261.hp2 HG01515.hp2 HG02129.hp1 HG02258.hp2 HG02293.hp1 HG02559.hp2 HG02970.hp1 HG03239.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp2 NA18951.hp2 NA18968.hp2 NA18975.hp2 NA18985.hp1 NA18992.hp1 NA19004.hp1 NA19009.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19085.hp2 NA19086.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0003 a0007c0009 a0001c0001 a0002c0003 a0007c0009	a0001c0001t0002 a0001c0001t0014 a0001c0001t0018 others(3): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0002c0003t0002 a0007c0009t0002	a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0254 others(27): Show a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0270 a0001c0001t0002g0279 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0291 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0329 a0001c0001t0002g0355 a0001c0001t0014g0323 a0001c0001t0018g0260 a0001c0001t0020g0340 a0002c0003t0002g0309 a0002c0003t0002g0310 a0002c0003t0002g0311 a0002c0003t0002g0312 a0007c0009t0002g0306	30	364	0.0824	-14	c.444 others(31): Show c.444-7292_444-7279delTTCTCTTCTCTTCT		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
CBR1_chr21_36065024_36078164	36074263	GGCCCCTT others(7): Show GGCCCCTTATTTTAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	430	0.0023	-14	c.13 others(25): Show c.1382_*1395delGCCCCTTATTTTAT		CBR1	ENSG00000159228.13	transcript	ENST00000290349.11	protein_coding					1100		chr21	TogoVar
CBR4_chr4_168982590_169015255	169002212	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0041 a0001c0001t0013g0041	1	284	0.0035	-14	c.401 others(26): Show c.401-21_401-8delTTTTTTTTTTTTTT		CBR4	ENSG00000145439.12	transcript	ENST00000306193.8	protein_coding	3/4						chr4	TogoVar
CBS_chr21_43048191_43080835	43050016	TATCTCCC others(7): Show TATCTCCCCTGAAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19083.hp2 NA19066.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	298	0.0067	-14	c.38 others(25): Show c.3850_*3863delGCTTCAGGGGAGAT		CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding					3174		chr21	TogoVar
CBX1_chr17_48065059_48106478	48080945	AAAAAAAA others(7): Show AAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	396	0.0025	-14	c.-37 others(31): Show c.-37-3918_-37-3905delATATATATTTTTTT		CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4						chr17	TogoVar
CBX1_chr17_48065059_48106478	48080947	AAAAAATA others(7): Show AAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01358.hp1 HG02004.hp1 others(11): Show HG01106.hp2 HG01358.hp1 HG02004.hp1 HG02132.hp2 HG02135.hp1 HG02273.hp2 HG03516.hp1 NA18612.hp1 NA18953.hp1 NA18961.hp1 NA18983.hp2 NA18993.hp1 NA19088.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0135 a0001c0001t0002g0068 a0001c0001t0002g0069 others(9): Show a0001c0001t0001g0135 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0003g0001 a0001c0001t0003g0159 a0001c0001t0003g0171 a0001c0001t0003g0179 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0305	14	396	0.0354	-14	c.-37 others(31): Show c.-37-3920_-37-3907delATATATATATTTTT		CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4						chr17	TogoVar
CBX1_chr17_48065059_48106478	48080949	AAAATATA others(7): Show AAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02074.hp2 NA18975.hp2 others(1): Show HG00423.hp2 HG02074.hp2 NA18975.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0083 a0001c0001t0002g0096 a0001c0001t0002g0099 others(1): Show a0001c0001t0002g0083 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0003g0295	4	396	0.0101	-14	c.-37 others(31): Show c.-37-3922_-37-3909delATATATATATATTT		CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4						chr17	TogoVar
CBX1_chr17_48065059_48106478	48080951	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01081.hp1 others(21): Show HG00639.hp1 HG01069.hp2 HG01081.hp1 HG02056.hp2 HG02257.hp2 HG02280.hp2 HG02572.hp2 HG02683.hp1 HG02895.hp1 HG04228.hp2 NA18747.hp1 NA18946.hp1 NA18959.hp2 NA18962.hp2 NA18968.hp1 NA18969.hp1 NA18972.hp2 NA18985.hp1 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19011.hp2 NA19085.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0347 a0001c0001t0002g0060 a0001c0001t0002g0061 others(21): Show a0001c0001t0001g0347 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0003g0176 a0001c0001t0003g0185 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0214 a0001c0001t0003g0293 a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0006g0203 a0001c0001t0006g0206 a0001c0001t0009g0207 a0001c0001t0010g0216	24	396	0.0606	-14	c.-37 others(31): Show c.-37-3924_-37-3911delATATATATATATAT		CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4						chr17	TogoVar
CBX3_chr7_26196745_26218607	26208917	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG01516.hp2 others(3): Show HG01099.hp2 HG01106.hp2 HG01516.hp2 HG01517.hp2 HG02451.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0076 a0001c0001t0012g0019 a0001c0001t0012g0056 others(1): Show a0001c0001t0004g0076 a0001c0001t0012g0019 a0001c0001t0012g0056 a0001c0001t0012g0057	6	410	0.0146	-14	c.330 others(29): Show c.330+383_330+396delTTTTTTTTTTTTTT		CBX3	ENSG00000122565.19	transcript	ENST00000396386.7	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr7	TogoVar
CBX3_chr7_26196745_26218607	26217320	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG03195.hp2 HG02135.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0007g0113 a0001c0001t0001g0002 a0001c0001t0007g0113	2	410	0.0049	-14	c.51 others(25): Show c.5113_*5126delAAAAAAAAAAAAAA		CBX3	ENSG00000122565.19	transcript	ENST00000396386.7	protein_coding					3714		chr7	TogoVar
CBX5_chr12_54225942_54285122	54250811	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18944.hp2 NA18978.hp2 HG02056.hp2 NA18944.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0216 a0001c0001t0001g0261 a0001c0001t0001g0262	3	368	0.0082	-14	c.324 others(31): Show c.324+1216_324+1229delTTTTTTTTTTTTTT		CBX5	ENSG00000094916.16	transcript	ENST00000209875.9	protein_coding	3/4						chr12	TogoVar
CBY2_chr13_45697320_45719559	45713927	GCTCCGGC others(7): Show GCTCCGGCCTCTCCT	G G	frameshift_variant frameshift_variant	HIGH	NA19078.hp1 NA19078.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0003 a0003c0015t0001g0003	1	440	0.0023	-14	c.904 others(21): Show c.904_917delTCCGGCCTCTCCTC	p.Ser others(5): Show p.Ser302fs	CBY2	ENSG00000174015.10	transcript	ENST00000310521.6	protein_coding	3/3	975/1605	904/1347	302/448		INFO_REALIGN_3_PRIME	chr13	TogoVar
CBY3_chr5_179673560_179686034	179684919	ATTTTGTA others(7): Show ATTTTGTATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	-14	c.-40 others(25): Show c.-4015_-4002delAAAAAAATACAAAA		CBY3	ENSG00000204659.5	transcript	ENST00000376974.5	protein_coding					3886		chr5	TogoVar
CBY3_chr5_179673560_179686034	179684926	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG03540.hp1 NA19240.hp1 HG02818.hp1 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0001g0011 a0001c0001t0001g0032	3	412	0.0073	-14	c.-40 others(25): Show c.-4022_-4009delAAAAAAAAAAAAAA		CBY3	ENSG00000204659.5	transcript	ENST00000376974.5	protein_coding					3893		chr5	TogoVar
CC2D2A_chr4_15464882_15606552	15470679	CTCTCTCT others(7): Show CTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	344	0.0029	-14	c.-19 others(29): Show c.-19+624_-19+637delCTCTCTCTCTATAT		CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15470681	CTCTCTCT others(7): Show CTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA20300.hp2 HG03139.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0089 a0001c0002t0002g0090	2	344	0.0058	-14	c.-19 others(29): Show c.-19+626_-19+639delCTCTCTCTATATAT		CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15470683	CTCTCTCT others(7): Show CTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0022 a0022	a0022c0014 a0022c0014	a0022c0014t0002 a0022c0014t0002	a0022c0014t0002g0124 a0022c0014t0002g0124	1	344	0.0029	-14	c.-19 others(29): Show c.-19+628_-19+641delCTCTCTATATATAT		CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15470687	CTCTATAT others(7): Show CTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	344	0.0029	-14	c.-19 others(29): Show c.-19+632_-19+645delCTATATATATATAT		CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15470689	CTATATAT others(7): Show CTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02486.hp1 HG02698.hp2 others(1): Show HG02071.hp2 HG02486.hp1 HG02698.hp2 HG03098.hp1	a0001 a0002 a0018 others(1): Show a0001 a0002 a0018 a0021	a0001c0001 a0002c0005 a0018c0016 others(1): Show a0001c0001 a0002c0005 a0018c0016 a0021c0030	a0001c0001t0002 a0002c0005t0002 a0018c0016t0002 others(1): Show a0001c0001t0002 a0002c0005t0002 a0018c0016t0002 a0021c0030t0002	a0001c0001t0002g0280 a0002c0005t0002g0279 a0018c0016t0002g0223 others(1): Show a0001c0001t0002g0280 a0002c0005t0002g0279 a0018c0016t0002g0223 a0021c0030t0002g0222	4	344	0.0116	-14	c.-19 others(29): Show c.-19+664_-19+677delATATATATATATAT		CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15500099	GTGTGTGT others(7): Show GTGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	344	0.0029	-14	c.248 others(31): Show c.248-2328_248-2315delGTGTGTGTATATAT		CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	4/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15544073	GAAGCCTC others(7): Show GAAGCCTCCCATCTT	G G	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	344	0.0029	-14	c.218 others(33): Show c.2181+3060_2181+3073delAAGCCTCCCATCTT		CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	17/36						chr4	TogoVar

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