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
BEND6_chr6_56950107_57032346	56954882	TGCGCAGC others(6): Show TGCGCAGCCCCCGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	204	0.0049	-13	c.-67 others(22): Show c.-678_-666delGCGCAGCCCCCGG	BEND6	ENSG00000151917.18	transcript	ENST00000370746.8	protein_coding		224		chr6	TogoVar
BEST3_chr12_69648609_69704303	69674892	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02818.hp1 HG03098.hp2 others(1): Show HG02055.hp2 HG02818.hp1 HG03098.hp2 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0005c0013 a0001c0001 a0001c0006 a0005c0013	a0001c0001t0001 a0001c0001t0010 a0001c0006t0006 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0006t0006 a0005c0013t0001	a0001c0001t0001g0308 a0001c0001t0010g0239 a0001c0006t0006g0238 others(1): Show a0001c0001t0001g0308 a0001c0001t0010g0239 a0001c0006t0006g0238 a0005c0013t0001g0212	4	366	0.0109	-13	c.868 others(30): Show c.868-1940_868-1928delAAAAAAAAAAAAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	7/9			chr12	TogoVar
BEST3_chr12_69648609_69704303	69703916	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01433.hp1 NA18947.hp1 others(6): Show HG01169.hp1 HG01433.hp1 NA18947.hp1 NA18979.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA19012.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0092 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0143 a0001c0001t0001g0144 a0002c0002t0002g0240	9	366	0.0246	-13	c.-47 others(24): Show c.-4740_-4728delTTTTTTTTTTTTT	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding		4614		chr12	TogoVar
BEX1_chrX_103057651_103069171	103065758	CTCTTCTC others(6): Show CTCTTCTCTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	339	0.0030	-13	c.-17 others(24): Show c.-1771_-1759delAGAAGAGAGAAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		1588		chrX	TogoVar
BFAR_chr16_14627951_14674236	14654006	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	317	0.0032	-13	c.639 others(30): Show c.639-1049_639-1037delTTTTTTTTTTTTT	BFAR	ENSG00000103429.11	transcript	ENST00000261658.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
BHLHA9_chr17_1265444_1276815	1274621	CTTTTTTT others(6): Show CTTTTTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02717.hp1 others(6): Show HG02055.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02976.hp1 HG03540.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	9	442	0.0204	-13	c.33 others(24): Show c.3351_*3363delTTTTTTTCTTTCT	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		2807		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1274633	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	442	0.0023	-13	c.33 others(24): Show c.3363_*3375delTTTTTTTTTTTTT	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		2819		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1275701	TGAATGTG others(6): Show TGAATGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02922.hp2 others(7): Show HG02145.hp1 HG02258.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03195.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008	a0001c0002t0001g0000 a0001c0002t0004g0000 a0001c0002t0007g0000 others(1): Show a0001c0002t0001g0000 a0001c0002t0004g0000 a0001c0002t0007g0000 a0001c0002t0008g0000	10	442	0.0226	-13	c.44 others(24): Show c.4431_*4443delGAATGTGTGTGTG	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		3887		chr17	TogoVar
BHLHE41_chr12_26115030_26130037	26126541	CACGGGTT others(6): Show CACGGGTTCCGGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01515.hp2 HG01517.hp1 others(5): Show HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG02738.hp1 HG04199.hp1 HG04228.hp1 NA18980.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0015 a0002c0002t0014 a0001c0001t0006 a0001c0001t0015 a0002c0002t0014	a0001c0001t0006g0010 a0001c0001t0006g0015 a0001c0001t0015g0023 others(1): Show a0001c0001t0006g0010 a0001c0001t0006g0015 a0001c0001t0015g0023 a0002c0002t0014g0022	8	422	0.0190	-13	c.-17 others(24): Show c.-1775_-1763delCCCCGGAACCCGT	BHLHE41	ENSG00000123095.6	transcript	ENST00000242728.5	protein_coding		1505		chr12	TogoVar
BICD1_chr12_32101847_32388633	32142967	AATAGTTC others(6): Show AATAGTTCTCTCTT	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0001 a0001c0002t0005g0001	1	290	0.0035	-13	c.213 others(32): Show c.213+35424_213+35436delATAGTTCTCTCTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9			chr12	TogoVar
BICD1_chr12_32101847_32388633	32198546	CTTTTTTT others(6): Show CTTTTTTTTTTATT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0275 a0001c0001t0056g0275	1	290	0.0035	-13	c.214 others(32): Show c.214-17699_214-17687delTTTTTTTTTATTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32268386	CGTCATTG others(6): Show CGTCATTGGTCCAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02109.hp1 others(7): Show HG01167.hp2 HG01169.hp2 HG02109.hp1 HG02109.hp2 HG02622.hp1 HG02630.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0001t0018 a0001c0001t0061 others(1): Show a0001c0001t0006 a0001c0001t0018 a0001c0001t0061 a0001c0005t0012	a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0156 others(7): Show a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0162 a0001c0001t0006g0164 a0001c0001t0018g0219 a0001c0001t0018g0227 a0001c0001t0061g0226 a0001c0005t0012g0271	10	290	0.0345	-13	c.427 others(32): Show c.427-25605_427-25593delCATTGGTCCATGT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32282202	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp2 others(121): Show HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp2 HG03195.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19082.hp1 NA19084.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0028 a0001c0001t0030 a0001c0001t0036 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0058 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0020 a0001c0002t0029 a0001c0002t0041 a0001c0002t0045 a0001c0002t0051 a0001c0003t0002 a0001c0003t0013 a0001c0003t0053 a0001c0003t0054 a0001c0004t0014 a0001c0004t0062 a0001c0005t0009 a0001c0007t0050 a0001c0009t0001 a0002c0010t0008	a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0193 others(121): Show a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0258 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0002g0199 a0001c0001t0003g0067 a0001c0001t0003g0147 a0001c0001t0003g0187 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0004g0032 a0001c0001t0004g0114 a0001c0001t0004g0130 a0001c0001t0004g0134 a0001c0001t0004g0136 a0001c0001t0004g0142 a0001c0001t0004g0149 a0001c0001t0004g0287 a0001c0001t0006g0023 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0105 a0001c0001t0006g0155 a0001c0001t0006g0163 a0001c0001t0006g0165 a0001c0001t0007g0139 a0001c0001t0008g0108 a0001c0001t0008g0119 a0001c0001t0008g0123 a0001c0001t0008g0125 a0001c0001t0009g0081 a0001c0001t0009g0084 a0001c0001t0009g0086 a0001c0001t0009g0159 a0001c0001t0009g0183 a0001c0001t0010g0103 a0001c0001t0010g0133 a0001c0001t0010g0143 a0001c0001t0010g0158 a0001c0001t0010g0161 a0001c0001t0011g0057 a0001c0001t0011g0080 a0001c0001t0011g0235 a0001c0001t0011g0259 a0001c0001t0012g0237 a0001c0001t0012g0265 a0001c0001t0015g0020 a0001c0001t0017g0092 a0001c0001t0017g0093 a0001c0001t0018g0268 a0001c0001t0028g0006 a0001c0001t0030g0029 a0001c0001t0036g0090 a0001c0001t0038g0098 a0001c0001t0043g0236 a0001c0001t0044g0180 a0001c0001t0058g0221 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0077 a0001c0002t0001g0082 a0001c0002t0001g0175 a0001c0002t0001g0190 a0001c0002t0001g0200 a0001c0002t0001g0210 a0001c0002t0001g0220 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0231 a0001c0002t0001g0233 a0001c0002t0001g0267 a0001c0002t0001g0283 a0001c0002t0002g0043 a0001c0002t0002g0053 a0001c0002t0002g0076 a0001c0002t0002g0083 a0001c0002t0002g0088 a0001c0002t0002g0243 a0001c0002t0002g0263 a0001c0002t0004g0002 a0001c0002t0004g0007 a0001c0002t0004g0009 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0106 a0001c0002t0004g0117 a0001c0002t0004g0171 a0001c0002t0005g0001 a0001c0002t0005g0104 a0001c0002t0005g0126 a0001c0002t0005g0127 a0001c0002t0005g0135 a0001c0002t0005g0290 a0001c0002t0007g0010 a0001c0002t0007g0022 a0001c0002t0007g0150 a0001c0002t0020g0052 a0001c0002t0029g0109 a0001c0002t0041g0176 a0001c0002t0045g0201 a0001c0002t0051g0266 a0001c0003t0002g0240 a0001c0003t0013g0277 a0001c0003t0053g0285 a0001c0003t0054g0079 a0001c0004t0014g0004 a0001c0004t0062g0040 a0001c0005t0009g0270 a0001c0007t0050g0186 a0001c0009t0001g0056 a0002c0010t0008g0256	124	290	0.4276	-13	c.427 others(32): Show c.427-11768_427-11756delTTTTTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32311392	GGGAGGCT others(6): Show GGGAGGCTGAGGCA	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0176 a0001c0002t0041g0176	1	290	0.0035	-13	c.100 others(32): Show c.1005+5275_1005+5287delGCTGAGGCAGGAG	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	119991043	TTCTCTAG others(6): Show TTCTCTAGGCAGTC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01099.hp1 others(12): Show HG00735.hp2 HG01081.hp2 HG01099.hp1 HG01243.hp2 HG01884.hp1 HG02257.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02922.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0029 a0001c0001t0003 a0001c0001t0029	a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0272 others(12): Show a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0029g0284	15	296	0.0507	-13	c.429 others(28): Show c.429+748_429+760delCTCTAGGCAGTCT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120074290	TACTATCT others(6): Show TACTATCTTTCCCC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	296	0.0034	-13	c.130 others(30): Show c.1309-137_1309-125delTATCTTTCCCCAC	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42793122	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	270	0.0037	-13	c.-10 others(34): Show c.-102+11048_-102+11060delTTTTTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42840218	TTTTTGTT others(6): Show TTTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	270	0.0037	-13	c.183 others(34): Show c.1839+10050_1839+10062delTGTTTGTTTGTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42844508	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp2 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0225 a0001c0001t0003g0224 a0001c0001t0002g0225 a0001c0001t0003g0224	2	270	0.0074	-13	c.184 others(32): Show c.1840-7559_1840-7547delAAAAAAAAAAAAA	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42845133	AATTTGAG others(6): Show AATTTGAGATAAAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00621.hp2 others(23): Show HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG02015.hp1 HG02074.hp1 HG02132.hp2 HG02523.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18951.hp2 NA18952.hp2 NA18962.hp1 NA18974.hp2 NA18979.hp1 NA18982.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19056.hp2 NA19066.hp1 NA19080.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 others(23): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0214 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0270 a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0002t0003g0059	26	270	0.0963	-13	c.184 others(32): Show c.1840-6957_1840-6945delTTTGAGATAAAGA	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42845195	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp1 HG02886.hp1 others(1): Show HG01106.hp1 HG01261.hp1 HG02886.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0099 a0001c0001t0001g0215 a0001c0001t0002g0066 others(1): Show a0001c0001t0001g0099 a0001c0001t0001g0215 a0001c0001t0002g0066 a0001c0001t0006g0067	4	270	0.0148	-13	c.184 others(32): Show c.1840-6856_1840-6844delTTTTTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42865471	GCCCCGAG others(6): Show GCCCCGAGACCCCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG01255.hp1 HG01943.hp1 others(5): Show HG00544.hp1 HG01255.hp1 HG01943.hp1 HG01943.hp2 HG02280.hp2 HG02895.hp2 HG02922.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0010 a0001c0001t0011 a0001c0001t0023 others(3): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0005t0026	a0001c0001t0010g0079 a0001c0001t0010g0203 a0001c0001t0011g0117 others(5): Show a0001c0001t0010g0079 a0001c0001t0010g0203 a0001c0001t0011g0117 a0001c0001t0011g0222 a0001c0001t0023g0118 a0001c0001t0024g0116 a0001c0001t0025g0176 a0001c0005t0026g0026	8	270	0.0296	-13	c.44 others(20): Show c.44_*56delAGACCCCACCCCG	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	13/13	44	INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47659725	CACACACA others(6): Show CACACACACGTTCT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18975.hp2 NA18944.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0307 a0001c0001t0001g0235 a0001c0001t0001g0307	2	312	0.0064	-13	c.-10 others(34): Show c.-107-10717_-107-10705delACACACACGTTCT	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	1/14			chr19	TogoVar
BID_chr22_17729138_17779469	17733008	CGCTCTGC others(6): Show CGCTCTGCACTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG01934.hp1 others(8): Show HG01109.hp1 HG01884.hp1 HG01934.hp1 HG02055.hp2 HG02148.hp1 HG03491.hp1 HG03654.hp1 HG04204.hp1 HG04204.hp2 NA18941.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0004 a0001c0001t0004 a0001c0003t0004	a0001c0001t0004g0075 a0001c0001t0004g0279 a0001c0003t0004g0149 others(8): Show a0001c0001t0004g0075 a0001c0001t0004g0279 a0001c0003t0004g0149 a0001c0003t0004g0150 a0001c0003t0004g0151 a0001c0003t0004g0154 a0001c0003t0004g0157 a0001c0003t0004g0198 a0001c0003t0004g0216 a0001c0003t0004g0303 a0001c0003t0004g0315	11	362	0.0304	-13	c.25 others(24): Show c.2559_*2571delAGCAGTGCAGAGC	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding		1129		chr22	TogoVar
BID_chr22_17729138_17779469	17740102	GGCCACGC others(6): Show GGCCACGCTCAACT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00738.hp1 others(48): Show HG00099.hp2 HG00423.hp1 HG00738.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01361.hp1 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG02071.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0045 others(48): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0045 a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0247 a0001c0001t0001g0301 a0001c0001t0001g0317 a0001c0001t0001g0322 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0335 a0001c0001t0001g0354 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0094 a0001c0001t0003g0125 a0001c0001t0003g0128 a0001c0001t0003g0143 a0001c0001t0003g0155 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0329 a0001c0001t0003g0337 a0001c0001t0003g0352 a0001c0001t0005g0208 a0001c0001t0005g0215 a0001c0001t0006g0325 a0001c0001t0008g0323 a0001c0001t0008g0324 a0001c0001t0009g0148 a0001c0001t0009g0333 a0001c0001t0012g0347 a0002c0002t0001g0017 a0002c0002t0001g0080 a0002c0002t0001g0340 a0002c0002t0001g0342 a0003c0004t0001g0166 a0003c0004t0001g0167 a0003c0004t0001g0168 a0003c0004t0001g0169	51	362	0.1409	-13	c.224 others(28): Show c.224-627_224-615delAGTTGAGCGTGGC	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	3/5			chr22	TogoVar
BID_chr22_17729138_17779469	17776999	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	362	0.0028	-13	c.-26 others(24): Show c.-2690_-2678delAAAAAAAAAAAAA	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding		2531		chr22	TogoVar
BIK_chr22_43105750_43134712	43130417	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00738.hp2 HG01069.hp2 others(52): Show HG00438.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG02015.hp2 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02559.hp1 HG02559.hp2 HG02683.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18946.hp1 NA18950.hp2 NA18977.hp2 NA18979.hp2 NA19007.hp1 NA19068.hp1 NA19068.hp2 NA19087.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0004c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0004g0008 a0001c0001t0004g0163 a0001c0001t0007g0120 a0001c0001t0008g0018 a0004c0003t0001g0008	55	386	0.1425	-13	c.11 others(24): Show c.1113_*1125delTTTTTTTTTTTTT	BIK	ENSG00000100290.3	transcript	ENST00000216115.3	protein_coding		706		chr22	TogoVar
BIN2_chr12_51276038_51329174	51277299	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0026 a0004c0005t0001g0026	1	400	0.0025	-13	c.41 others(24): Show c.4187_*4199delTTTTTTTTTTTTT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding		3738		chr12	TogoVar
BIN2_chr12_51276038_51329174	51295578	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02109.hp1 HG06807.hp2 HG00733.hp2 HG02109.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0211 a0001c0001t0001g0301 a0001c0001t0002g0210 a0001c0001t0001g0211 a0001c0001t0001g0301 a0001c0001t0002g0210	3	400	0.0075	-13	c.761 others(28): Show c.761+205_761+217delATATATATATATA	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar
BIN3_chr8_22615418_22674121	22663440	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	386	0.0026	-13	c.8+5 others(26): Show c.8+5591_8+5603delTTTTTTTTTTTTT	BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	1/8			chr8	TogoVar
BIRC2_chr11_102342214_102383670	102342374	ATATATAT others(6): Show ATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02145.hp2 others(2): Show HG01109.hp2 HG01884.hp1 HG02145.hp2 HG02280.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0288 a0001c0001t0002g0289 others(1): Show a0001c0001t0002g0026 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290	5	344	0.0145	-13	c.-62 others(24): Show c.-6259_-6247delTATATATATATAT	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4839		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102340693	TTCTCTGA others(6): Show TTCTCTGACTTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0032 a0005c0010t0032	a0005c0010t0032g0102 a0005c0010t0032g0102	1	384	0.0026	-13	c.35 others(24): Show c.3592_*3604delTCTCTGACTTCTC	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		1291		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342374	ATATATAT others(6): Show ATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02145.hp2 others(2): Show HG01109.hp1 HG01884.hp1 HG02145.hp2 HG02280.hp2 HG02976.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0024 a0001c0004t0009 a0001c0004t0024	a0001c0004t0009g0013 a0001c0004t0024g0013 a0001c0004t0009g0013 a0001c0004t0024g0013	5	384	0.0130	-13	c.52 others(24): Show c.5273_*5285delTATATATATATAT	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2972		chr11	TogoVar
BIRC5_chr17_78209253_78230635	78217491	ATTTTTAA others(6): Show ATTTTTAAATTTAT	A A	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0063 a0001c0001t0021g0063	1	432	0.0023	-13	c.339 others(28): Show c.339+713_339+725delTTTAAATTTATTT	BIRC5	ENSG00000089685.15	transcript	ENST00000350051.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
BIRC5_chr17_78209253_78230635	78224048	GTTGTTGT others(6): Show GTTGTTGTGTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0008 a0001c0001t0042g0008	1	432	0.0023	-13	c.50 others(22): Show c.500_*512delGTGTTTTTTTGTT	BIRC5	ENSG00000089685.15	transcript	ENST00000350051.8	protein_coding	4/4	500	INFO_REALIGN_3_PRIME	chr17	TogoVar
BIRC6_chr2_32352023_32623878	32369940	AAAAAAAT others(6): Show AAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0017 a0001c0007t0004g0017	1	274	0.0037	-13	c.326 others(30): Show c.326-7646_326-7634delAAAAATATATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32369942	AAAAATAT others(6): Show AAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0004 a0001c0030t0004	a0001c0030t0004g0016 a0001c0030t0004g0016	1	274	0.0037	-13	c.326 others(30): Show c.326-7644_326-7632delAAATATATATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32369946	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0005 a0001c0031t0005	a0001c0031t0005g0182 a0001c0031t0005g0182	1	274	0.0037	-13	c.326 others(30): Show c.326-7641_326-7629delTATATATATATAT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73			chr2	TogoVar
BIRC6_chr2_32352023_32623878	32431181	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	274	0.0037	-13	c.324 others(30): Show c.3248+111_3248+123delTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	12/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460264	ATATATAT others(6): Show ATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0115 a0001c0012t0003g0115	1	274	0.0037	-13	c.475 others(32): Show c.4754-2928_4754-2916delATATATATTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32480621	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0161 a0002c0002t0002g0161	1	274	0.0037	-13	c.740 others(30): Show c.7409-674_7409-662delTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	37/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32504030	GTGTTTGT others(6): Show GTGTTTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0002 a0001c0046t0002	a0001c0046t0002g0155 a0001c0046t0002g0155	1	274	0.0037	-13	c.949 others(30): Show c.9499+795_9499+807delTGTTTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	49/73			chr2	TogoVar
BIRC6_chr2_32352023_32623878	32553197	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01255.hp2 HG01258.hp1 others(28): Show HG01175.hp1 HG01255.hp2 HG01258.hp1 HG01496.hp2 HG01516.hp1 HG01952.hp2 HG02055.hp1 HG02083.hp2 HG02145.hp1 HG02257.hp1 HG02895.hp1 HG02970.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp2 HG03688.hp2 HG03704.hp1 NA18950.hp1 NA18952.hp1 NA18964.hp2 NA19009.hp1 NA19012.hp2 NA19056.hp2 NA19066.hp1 NA19084.hp2 NA19088.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0017 a0010c0036	a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 others(4): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 a0001c0008t0003 a0002c0002t0003 a0003c0017t0003 a0010c0036t0003	a0001c0001t0001g0056 a0001c0003t0002g0130 a0001c0003t0003g0032 others(28): Show a0001c0001t0001g0056 a0001c0003t0002g0130 a0001c0003t0003g0032 a0001c0003t0003g0034 a0001c0003t0003g0035 a0001c0003t0003g0037 a0001c0003t0003g0102 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0131 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0137 a0001c0003t0003g0139 a0001c0003t0003g0147 a0001c0003t0003g0264 a0001c0008t0003g0059 a0001c0008t0003g0060 a0001c0008t0003g0108 a0001c0008t0003g0109 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0003c0017t0003g0123 a0003c0017t0003g0135 a0003c0017t0003g0136 a0010c0036t0003g0138	31	274	0.1131	-13	c.131 others(34): Show c.13144+3741_13144+3753delAAAAAAAAAAAAA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	65/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIVM_chr13_102794119_102846533	102830455	CAGTTAAT others(6): Show CAGTTAATGGCTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0262	1	404	0.0025	-13	c.902 others(30): Show c.902-1109_902-1097delAGTTAATGGCTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	7/10			chr13	TogoVar
BLMH_chr17_30243203_30296944	30243815	CGGAACAG others(6): Show CGGAACAGCAAGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG02273.hp1 NA18948.hp1 HG01952.hp2 HG02273.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0148 a0002c0002t0001g0003 a0002c0002t0001g0148	3	298	0.0101	-13	c.51 others(24): Show c.5189_*5201delTCCTTGCTGTTCC	BLMH	ENSG00000108578.15	transcript	ENST00000261714.11	protein_coding		4387		chr17	TogoVar
BLMH_chr17_30243203_30296944	30285928	TTTTCATT others(6): Show TTTTCATTTTTTCA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG03139.hp2 others(2): Show HG01884.hp1 HG02559.hp1 HG03139.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0041 a0001c0003t0001g0220 a0001c0003t0001g0020 a0001c0003t0001g0041 a0001c0003t0001g0220	5	298	0.0168	-13	c.553 others(28): Show c.553-461_553-449delTGAAAAAATGAAA	BLMH	ENSG00000108578.15	transcript	ENST00000261714.11	protein_coding	5/11			chr17	TogoVar
BLOC1S2_chr10_100268293_100291680	100275397	TCAGGTTT others(6): Show TCAGGTTTTATAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0232 a0002c0002t0017g0232	1	378	0.0027	-13	c.52 others(20): Show c.52_*64delCTTATAAAACCTG	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	5/5	52		chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100276328	TCTCTCCC others(6): Show TCTCTCCCGTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	378	0.0027	-13	c.398 others(28): Show c.398-848_398-836delGGAGACGGGAGAG	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100276432	CTCTCCCT others(6): Show CTCTCCCTCTCCCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00733.hp1 others(16): Show HG00099.hp2 HG00558.hp1 HG00733.hp1 HG00738.hp2 HG01070.hp1 HG01106.hp1 HG01256.hp2 HG01258.hp1 HG01884.hp2 HG02071.hp1 HG02109.hp2 HG02683.hp2 HG03017.hp1 HG03130.hp2 HG03927.hp2 NA18945.hp2 NA18952.hp1 NA18998.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 others(10): Show a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0150 a0001c0001t0001g0151	19	378	0.0503	-13	c.398 others(28): Show c.398-952_398-940delCGGGAGAGGGAGA	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100276451	CTCTCCCT others(6): Show CTCTCCCTCTCCCG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03209.hp2 NA19009.hp1 HG02622.hp2 HG03209.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0008 a0001c0004t0015 a0001c0001t0001 a0001c0004t0008 a0001c0004t0015	a0001c0001t0001g0093 a0001c0004t0008g0047 a0001c0004t0015g0045 a0001c0001t0001g0093 a0001c0004t0008g0047 a0001c0004t0015g0045	3	378	0.0079	-13	c.398 others(28): Show c.398-971_398-959delCGGGAGAGGGAGA	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar

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