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
BICC1_chr10_58507872_58836435	58694130	TCTCCTGT others(9): Show TCTCCTGTTCTCATTGA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0010 a0002c0003t0015g0010	1	132	0.0076	-16	c.238 others(33): Show c.238-7941_238-7926delCCTGTTCTCATTGACT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58732371	GTGTGTAT others(9): Show GTGTGTATGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03041.hp2 HG03209.hp2 HG01243.hp2 HG03041.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0011 a0001c0001t0038 a0002c0003t0032 a0001c0001t0011 a0001c0001t0038 a0002c0003t0032	a0001c0001t0011g0077 a0001c0001t0038g0113 a0002c0003t0032g0049 a0001c0001t0011g0077 a0001c0001t0038g0113 a0002c0003t0032g0049	3	132	0.0227	-16	c.307 others(35): Show c.307+30230_307+30245delGTGTATGTATATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32138514	TATTTTTT others(9): Show TATTTTTTGACTTTATA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	290	0.0035	-16	c.213 others(35): Show c.213+30987_213+31002delATTTTTTGACTTTATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32171940	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp2 HG01069.hp1 others(49): Show HG00438.hp2 HG00741.hp2 HG01069.hp1 HG01081.hp2 HG01169.hp1 HG01346.hp2 HG01517.hp1 HG01943.hp1 HG01978.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02132.hp1 HG02148.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02735.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03710.hp2 HG04115.hp1 HG04204.hp1 NA18612.hp2 NA18906.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18966.hp1 NA18969.hp1 NA18975.hp1 NA18977.hp2 NA18981.hp2 NA18986.hp1 NA19063.hp2 NA19080.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0010 a0001c0001 a0001c0002 a0002c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0030 a0001c0001t0032 a0001c0001t0047 a0001c0001t0048 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0020 a0001c0002t0031 a0001c0002t0051 a0002c0010t0008	a0001c0001t0001g0049 a0001c0001t0001g0181 a0001c0001t0001g0182 others(49): Show a0001c0001t0001g0049 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0264 a0001c0001t0001g0289 a0001c0001t0003g0177 a0001c0001t0003g0213 a0001c0001t0003g0216 a0001c0001t0003g0234 a0001c0001t0003g0239 a0001c0001t0003g0257 a0001c0001t0003g0261 a0001c0001t0006g0021 a0001c0001t0006g0023 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0007g0026 a0001c0001t0009g0081 a0001c0001t0009g0084 a0001c0001t0009g0183 a0001c0001t0010g0158 a0001c0001t0011g0235 a0001c0001t0011g0254 a0001c0001t0012g0211 a0001c0001t0012g0265 a0001c0001t0015g0020 a0001c0001t0018g0219 a0001c0001t0018g0227 a0001c0001t0019g0185 a0001c0001t0019g0191 a0001c0001t0020g0217 a0001c0001t0024g0260 a0001c0001t0030g0029 a0001c0001t0032g0033 a0001c0001t0047g0247 a0001c0001t0048g0218 a0001c0001t0059g0223 a0001c0002t0001g0082 a0001c0002t0001g0210 a0001c0002t0001g0233 a0001c0002t0001g0267 a0001c0002t0002g0064 a0001c0002t0002g0083 a0001c0002t0002g0215 a0001c0002t0002g0263 a0001c0002t0007g0022 a0001c0002t0007g0028 a0001c0002t0020g0214 a0001c0002t0031g0024 a0001c0002t0051g0266 a0002c0010t0008g0256	52	290	0.1793	-16	c.214 others(35): Show c.214-44272_214-44257delACACACACACACACAC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32230399	CAAATAAA others(9): Show CAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0173 a0001c0001t0019g0173	1	290	0.0035	-16	c.426 others(35): Show c.426+13971_426+13986delATAAATAAATAAATAA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32230431	TAAATAAA others(9): Show TAAATAAATAAATAAGC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02109.hp2 others(4): Show HG01167.hp2 HG01169.hp2 HG02109.hp2 HG02630.hp2 HG03209.hp2 HG03225.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0001t0061 a0001c0005t0012 a0001c0001t0006 a0001c0001t0061 a0001c0005t0012	a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0156 others(4): Show a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0164 a0001c0001t0061g0226 a0001c0005t0012g0271	7	290	0.0241	-16	c.426 others(35): Show c.426+13975_426+13990delATAAATAAATAAGCAA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32282199	CTTCTTTT others(9): Show CTTCTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0169 a0001c0002t0021g0169	1	290	0.0035	-16	c.427 others(35): Show c.427-11792_427-11777delCTTTTTTTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346622	ATATATAT others(9): Show ATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	1	290	0.0035	-16	c.276 others(35): Show c.2764+7656_2764+7671delCGTGTATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32348723	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01106.hp2 HG01243.hp2 others(17): Show HG00597.hp1 HG01106.hp2 HG01243.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG02027.hp2 HG02132.hp2 HG02300.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 NA18948.hp1 NA18950.hp2 NA18966.hp2 NA19002.hp1 NA19057.hp2 NA19082.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0008t0003	a0001c0001t0001g0038 a0001c0001t0003g0067 a0001c0001t0003g0087 others(17): Show a0001c0001t0001g0038 a0001c0001t0003g0067 a0001c0001t0003g0087 a0001c0001t0003g0187 a0001c0001t0003g0205 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0257 a0001c0001t0003g0272 a0001c0001t0004g0032 a0001c0001t0007g0139 a0001c0001t0007g0250 a0001c0001t0008g0119 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0013g0279 a0001c0002t0001g0074 a0001c0002t0004g0015 a0001c0002t0007g0010 a0001c0008t0003g0206	20	290	0.0690	-16	c.276 others(35): Show c.2764+9785_2764+9800delATATATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32359507	ATAACCCA others(9): Show ATAACCCATGAATCCAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG00642.hp2 others(102): Show HG00280.hp2 HG00597.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18954.hp2 NA18959.hp1 NA18966.hp2 NA18977.hp2 NA18982.hp1 NA18994.hp2 NA18998.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19064.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0039 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0004t0014 a0001c0004t0062 a0001c0006t0001 a0001c0008t0003 a0001c0009t0001	a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0059 others(102): Show a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0089 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0003g0050 a0001c0001t0003g0067 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0147 a0001c0001t0003g0177 a0001c0001t0003g0187 a0001c0001t0003g0198 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0213 a0001c0001t0003g0216 a0001c0001t0003g0225 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0239 a0001c0001t0003g0257 a0001c0001t0003g0261 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0284 a0001c0001t0004g0019 a0001c0001t0004g0032 a0001c0001t0004g0114 a0001c0001t0004g0130 a0001c0001t0004g0134 a0001c0001t0004g0136 a0001c0001t0004g0142 a0001c0001t0004g0149 a0001c0001t0004g0166 a0001c0001t0004g0170 a0001c0001t0004g0287 a0001c0001t0006g0160 a0001c0001t0007g0005 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0107 a0001c0001t0007g0139 a0001c0001t0007g0146 a0001c0001t0007g0250 a0001c0001t0007g0251 a0001c0001t0008g0119 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0009g0060 a0001c0001t0009g0183 a0001c0001t0011g0235 a0001c0001t0013g0279 a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0001t0015g0042 a0001c0001t0016g0037 a0001c0001t0016g0041 a0001c0001t0016g0154 a0001c0001t0019g0173 a0001c0001t0019g0185 a0001c0001t0019g0191 a0001c0001t0022g0101 a0001c0001t0022g0102 a0001c0001t0024g0209 a0001c0001t0024g0260 a0001c0001t0030g0029 a0001c0001t0032g0033 a0001c0001t0034g0128 a0001c0001t0039g0100 a0001c0001t0044g0180 a0001c0001t0047g0247 a0001c0001t0048g0218 a0001c0001t0055g0039 a0001c0001t0056g0275 a0001c0001t0057g0245 a0001c0001t0058g0221 a0001c0001t0059g0223 a0001c0002t0003g0238 a0001c0002t0004g0171 a0001c0002t0007g0010 a0001c0004t0014g0004 a0001c0004t0062g0040 a0001c0006t0001g0058 a0001c0008t0003g0206 a0001c0009t0001g0056	105	290	0.3621	-16	c.276 others(35): Show c.2765-8143_2765-8128delCCCATGAATCCATTAA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD2_chr9_92706363_92769833	92766606	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0290 a0001c0001t0004g0290	1	360	0.0028	-16	c.-18 others(27): Show c.-1878_-1863delAAAAAAAAAAAAAAAA	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding		1774		chr9	TogoVar
BICDL1_chr12_119984236_120099494	119991914	TGTTATTT others(9): Show TGTTATTTACTTAATGG	T T	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	296	0.0034	-16	c.429 others(33): Show c.429+1618_429+1633delGTTATTTACTTAATGG	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/9			chr12	TogoVar
BICDL1_chr12_119984236_120099494	120083629	GTATTTAT others(9): Show GTATTTATTTATTTATT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01099.hp1 others(12): Show HG00735.hp2 HG01081.hp2 HG01099.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG02145.hp1 HG02257.hp1 HG02615.hp2 HG02647.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp2 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0026 a0001c0001t0001 a0001c0001t0003 a0001c0001t0026	a0001c0001t0001g0287 a0001c0001t0003g0122 a0001c0001t0003g0123 others(12): Show a0001c0001t0001g0287 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0130 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0026g0286	15	296	0.0507	-16	c.158 others(35): Show c.1583+2645_1583+2660delTATTTATTTATTTATT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL2_chr16_3022682_3041944	3034658	CTCCTTCC others(9): Show CTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18906.hp1 HG02809.hp1 NA18906.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0031 a0005c0006t0002g0031	2	390	0.0051	-16	c.282 others(31): Show c.282+541_282+556delAGGAAGGAAGGAAGGA	BICDL2	ENSG00000162069.16	transcript	ENST00000572449.6	protein_coding	2/9			chr16	TogoVar
BICRAL_chr6_42777052_42873556	42779223	AACACACA others(9): Show AACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 NA19240.hp1 HG03017.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0161 a0001c0002t0003g0195 a0001c0001t0001g0161 a0001c0002t0003g0195	2	270	0.0074	-16	c.-29 others(27): Show c.-2979_-2964delACACACACACACACAC	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding		2828		chr6	TogoVar
BICRAL_chr6_42777052_42873556	42793122	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG02451.hp1 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0021 a0001c0002t0003 a0002c0003t0021	a0001c0002t0003g0022 a0002c0003t0021g0036 a0001c0002t0003g0022 a0002c0003t0021g0036	2	270	0.0074	-16	c.-10 others(37): Show c.-102+11045_-102+11060delTTTTTTTTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42794411	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00438.hp2 others(149): Show HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01261.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01943.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0002t0003 a0001c0006t0001 a0002c0003t0004 a0002c0003t0007 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(149): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0002g0004 a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0066 a0001c0001t0002g0126 a0001c0001t0002g0146 a0001c0001t0002g0153 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0200 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0211 a0001c0001t0002g0220 a0001c0001t0002g0225 a0001c0001t0002g0269 a0001c0001t0003g0009 a0001c0001t0003g0137 a0001c0001t0003g0159 a0001c0001t0003g0204 a0001c0001t0003g0224 a0001c0001t0003g0263 a0001c0001t0004g0127 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0141 a0001c0001t0004g0157 a0001c0001t0004g0210 a0001c0001t0004g0219 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0005g0065 a0001c0001t0005g0143 a0001c0001t0005g0209 a0001c0001t0006g0007 a0001c0001t0006g0067 a0001c0001t0007g0037 a0001c0001t0008g0128 a0001c0001t0008g0129 a0001c0001t0010g0203 a0001c0001t0012g0062 a0001c0001t0012g0063 a0001c0001t0013g0258 a0001c0001t0017g0015 a0001c0001t0019g0011 a0001c0001t0020g0207 a0001c0001t0025g0176 a0001c0001t0027g0064 a0001c0001t0028g0010 a0001c0002t0003g0013 a0001c0002t0003g0059 a0001c0002t0003g0195 a0001c0006t0001g0192 a0002c0003t0004g0040 a0002c0003t0007g0039 a0005c0008t0001g0171	152	270	0.5630	-16	c.-10 others(37): Show c.-102+12338_-102+12353delGTGTGTGTGTGTGTGT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42840219	TTTTGTTT others(9): Show TTTTGTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	270	0.0037	-16	c.183 others(37): Show c.1839+10071_1839+10086delGTTTGTTTGTTTGTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42844508	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00621.hp2 others(25): Show HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01106.hp2 HG02015.hp1 HG02074.hp1 HG02132.hp2 HG02523.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18951.hp2 NA18952.hp2 NA18962.hp1 NA18979.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19056.hp2 NA19066.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0003	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 others(25): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0142 a0001c0001t0001g0214 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0262 a0001c0001t0001g0270 a0001c0001t0002g0057 a0001c0001t0002g0211 a0001c0001t0002g0269 a0001c0001t0004g0210 a0001c0002t0003g0059	28	270	0.1037	-16	c.184 others(35): Show c.1840-7562_1840-7547delAAAAAAAAAAAAAAAA	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42845195	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00738.hp2 HG02074.hp1 others(8): Show HG00423.hp2 HG00738.hp2 HG02074.hp1 HG02132.hp2 HG02622.hp2 NA18942.hp1 NA18952.hp2 NA18962.hp1 NA18979.hp1 NA19010.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0049 others(8): Show a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0101 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0244 a0001c0001t0006g0007	11	270	0.0407	-16	c.184 others(35): Show c.1840-6859_1840-6844delTTTTTTTTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47685694	TCGGAAGG others(9): Show TCGGAAGGAACTCTGTG	T T	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	312	0.0032	-16	c.228 others(35): Show c.2283+3544_2283+3559delGGAAGGAACTCTGTGC	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BICRA_chr19_47604134_47708277	47685741	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0108 a0002c0002t0002g0108	1	312	0.0032	-16	c.228 others(35): Show c.2283+3620_2283+3635delTGTGTGTGTGTGTGTG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BIN2_chr12_51276038_51329174	51314017	CTTATTTA others(9): Show CTTATTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	400	0.0025	-16	c.82- others(29): Show c.82-130_82-115delATAAATAAATAAATAA	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51324943	CAAATAAA others(9): Show CAAATAAATAAATAAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0116 a0003c0003t0001g0116	1	400	0.0025	-16	c.-85 others(25): Show c.-857_-842delATTTATTTATTTATTT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding		770		chr12	TogoVar
BIN3_chr8_22615418_22674121	22616882	TTTTTTTT others(9): Show TTTTTTTTTTTTTTTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG00735.hp2 others(14): Show HG00323.hp1 HG00621.hp2 HG00735.hp2 HG01256.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02717.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03540.hp2 HG03942.hp1 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0011 a0001c0001 a0001c0009 a0001c0011	a0001c0001t0004 a0001c0001t0013 a0001c0001t0020 others(3): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0020 a0001c0001t0023 a0001c0009t0004 a0001c0011t0004	a0001c0001t0004g0014 a0001c0001t0004g0208 a0001c0001t0004g0209 others(12): Show a0001c0001t0004g0014 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0223 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0301 a0001c0001t0013g0018 a0001c0001t0020g0298 a0001c0001t0023g0297 a0001c0009t0004g0222 a0001c0011t0004g0295	17	386	0.0440	-16	c.45 others(27): Show c.4524_*4539delCCAAAAAAAAAAAAAA	BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding		3535		chr8	TogoVar
BIN3_chr8_22615418_22674121	22616941	GCGCAACC others(9): Show GCGCAACCTCGGCTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG00733.hp2 others(44): Show HG00323.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01099.hp2 HG01192.hp2 HG01256.hp1 HG01891.hp2 HG02004.hp2 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0001c0011 a0003c0010	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(15): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0002t0024 a0001c0002t0032 a0001c0009t0004 a0001c0011t0004 a0003c0010t0025	a0001c0001t0004g0014 a0001c0001t0004g0208 a0001c0001t0004g0209 others(41): Show a0001c0001t0004g0014 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0223 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0301 a0001c0001t0007g0292 a0001c0001t0007g0321 a0001c0001t0007g0322 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0007g0326 a0001c0001t0007g0327 a0001c0001t0008g0016 a0001c0001t0008g0226 a0001c0001t0008g0227 a0001c0001t0008g0229 a0001c0001t0008g0230 a0001c0001t0008g0302 a0001c0001t0010g0102 a0001c0001t0010g0103 a0001c0001t0010g0104 a0001c0001t0010g0105 a0001c0001t0013g0018 a0001c0001t0014g0239 a0001c0001t0014g0249 a0001c0001t0017g0276 a0001c0001t0017g0277 a0001c0001t0018g0101 a0001c0001t0019g0244 a0001c0001t0020g0298 a0001c0001t0021g0228 a0001c0001t0022g0130 a0001c0001t0023g0297 a0001c0002t0024g0133 a0001c0002t0032g0254 a0001c0009t0004g0222 a0001c0011t0004g0295 a0003c0010t0025g0224	47	386	0.1218	-16	c.44 others(27): Show c.4465_*4480delGTGAGCCGAGGTTGCG	BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding		3476		chr8	TogoVar
BIN3_chr8_22615418_22674121	22649843	ACACACAC others(9): Show ACACACACACACACACC	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03225.hp1 HG03139.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0322 a0001c0001t0007g0323 a0001c0001t0007g0322 a0001c0001t0007g0323	2	386	0.0052	-16	c.9-5 others(29): Show c.9-5056_9-5041delGGTGTGTGTGTGTGTG	BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	1/8			chr8	TogoVar
BIRC2_chr11_102342214_102383670	102342340	GTATGTAT others(9): Show GTATGTATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	344	0.0029	-16	c.-62 others(27): Show c.-6293_-6278delTATGTATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4873		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102342344	GTATATAT others(9): Show GTATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0113 a0003c0003t0001g0113	1	344	0.0029	-16	c.-62 others(27): Show c.-6289_-6274delTATATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4869		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364139	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03453.hp2 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0242 a0001c0001t0003g0119 a0001c0001t0001g0242 a0001c0001t0003g0119	2	344	0.0058	-16	c.112 others(33): Show c.1123+444_1123+459delTATATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364162	TATATATA others(9): Show TATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19240.hp1 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0116 a0001c0001t0001g0035 a0001c0001t0001g0116	2	344	0.0058	-16	c.112 others(33): Show c.1123+448_1123+463delTATATATATATACACA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342340	GTATGTAT others(9): Show GTATGTATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	-16	c.52 others(27): Show c.5239_*5254delTATGTATATATATATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2938		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342344	GTATATAT others(9): Show GTATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0091 a0001c0001t0036g0091	1	384	0.0026	-16	c.52 others(27): Show c.5243_*5258delTATATATATATATATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2942		chr11	TogoVar
BIRC5_chr17_78209253_78230635	78224039	AGTTTTTT others(9): Show AGTTTTTTTGTTGTTGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0051 a0001c0001t0043g0051	1	432	0.0023	-16	c.49 others(25): Show c.497_*512delGTTGTGTTTTTTTGTT	BIRC5	ENSG00000089685.15	transcript	ENST00000350051.8	protein_coding	4/4	497	INFO_REALIGN_3_PRIME	chr17	TogoVar
BIRC6_chr2_32352023_32623878	32357501	CGCCGGGC others(9): Show CGCCGGGCGGGCGCGAA	C C	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0008 a0008	a0008c0043 a0008c0043	a0008c0043t0001 a0008c0043t0001	a0008c0043t0001g0274 a0008c0043t0001g0274	1	274	0.0037	-16	c.325 others(29): Show c.325+22_325+37delCGGGCGCGAAGCCGGG	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32369970	ATATATAT others(9): Show ATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0053 a0002c0002t0002g0053	1	274	0.0037	-16	c.326 others(33): Show c.326-7614_326-7599delATATATATATATGTAT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32431181	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0173 a0002c0004t0002g0173	1	274	0.0037	-16	c.324 others(33): Show c.3248+108_3248+123delTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	12/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32446738	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0185 a0001c0007t0006g0185	1	274	0.0037	-16	c.448 others(35): Show c.4484+1088_4484+1103delTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	21/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32473706	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	274	0.0037	-16	c.672 others(33): Show c.6720+496_6720+511delGTGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	33/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BLK_chr8_11489387_11569599	11492272	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG04228.hp1 HG03453.hp1 HG04228.hp1	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0004 a0001c0012t0017 a0001c0004t0004 a0001c0012t0017	a0001c0004t0004g0278 a0001c0012t0017g0295 a0001c0004t0004g0278 a0001c0012t0017g0295	2	308	0.0065	-16	c.-23 others(27): Show c.-2320_-2305delGTGTGTGTGTGTGTGT	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding		2114		chr8	TogoVar
BLK_chr8_11489387_11569599	11510774	CAAATAAA others(9): Show CAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp1 NA20129.hp2 HG01884.hp1 HG02965.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 a0001c0001 a0001c0003 a0001c0015	a0001c0001t0002 a0001c0003t0007 a0001c0015t0004 a0001c0001t0002 a0001c0003t0007 a0001c0015t0004	a0001c0001t0002g0014 a0001c0003t0007g0028 a0001c0015t0004g0211 a0001c0001t0002g0014 a0001c0003t0007g0028 a0001c0015t0004g0211	3	308	0.0097	-16	c.-2+ others(33): Show c.-2+16213_-2+16228delAATAAATAAATAAATA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11560138	CGTGGGTG others(9): Show CGTGGGTGGGTGGGTGG	C C	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19079.hp2 NA19003.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0008 a0001c0001t0011	a0001c0001t0008g0177 a0001c0001t0011g0051 a0001c0001t0008g0177 a0001c0001t0011g0051	2	308	0.0065	-16	c.103 others(35): Show c.1030-1147_1030-1132delGTGGGTGGGTGGGTGG	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11560166	GGTGGATG others(9): Show GGTGGATGGATGGATGC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03139.hp2 HG06807.hp1 HG01884.hp2 HG03139.hp2 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0013 a0001c0004t0004 a0001c0004t0013	a0001c0004t0004g0246 a0001c0004t0013g0076 a0001c0004t0013g0077 a0001c0004t0004g0246 a0001c0004t0013g0076 a0001c0004t0013g0077	3	308	0.0097	-16	c.103 others(35): Show c.1030-1135_1030-1120delGTGGATGGATGGATGC	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	10/12			chr8	TogoVar
BLK_chr8_11489387_11569599	11560167	GTGGATGG others(9): Show GTGGATGGATGGATGCA	G G	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA19083.hp2 NA18956.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0231 a0001c0001t0001g0166 a0001c0001t0001g0231	2	308	0.0065	-16	c.103 others(35): Show c.1030-1120_1030-1105delCATGGATGGATGGATG	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11560379	GTGGATGG others(9): Show GTGGATGGATGGATGCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02486.hp1 others(15): Show HG01884.hp2 HG01891.hp2 HG02486.hp1 HG02683.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0012 a0003c0008 a0005c0013	a0001c0001t0015 a0001c0002t0012 a0001c0004t0004 others(7): Show a0001c0001t0015 a0001c0002t0012 a0001c0004t0004 a0001c0004t0009 a0001c0004t0013 a0001c0005t0009 a0001c0005t0010 a0001c0012t0017 a0003c0008t0012 a0005c0013t0010	a0001c0001t0015g0073 a0001c0002t0012g0250 a0001c0004t0004g0246 others(14): Show a0001c0001t0015g0073 a0001c0002t0012g0250 a0001c0004t0004g0246 a0001c0004t0009g0207 a0001c0004t0013g0076 a0001c0004t0013g0077 a0001c0005t0009g0119 a0001c0005t0009g0242 a0001c0005t0009g0243 a0001c0005t0009g0244 a0001c0005t0010g0005 a0001c0005t0010g0117 a0001c0012t0017g0295 a0003c0008t0012g0091 a0003c0008t0012g0092 a0003c0008t0012g0093 a0005c0013t0010g0118	18	308	0.0584	-16	c.103 others(33): Show c.1030-901_1030-886delGGATGGATGCATGGAT	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLM_chr15_90712346_90821166	90789987	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19077.hp1 HG01081.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0147 a0001c0001t0001g0065 a0001c0001t0001g0147	2	280	0.0071	-16	c.282 others(33): Show c.2824-641_2824-626delTTTTTTTTTTTTTTTT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90797414	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	280	0.0036	-16	c.321 others(33): Show c.3211-760_3211-745delAAAAAAAAAAAAAAAA	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLNK_chr10_96184171_96276569	96265119	CTTATTTA others(9): Show CTTATTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0296 a0001c0001t0031g0296	1	322	0.0031	-16	c.47+ others(31): Show c.47+6217_47+6232delATAAATAAATAAATAA	BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	1/16			chr10	TogoVar
BLOC1S5_chr6_8008567_8069389	8022015	AAGATAAT others(9): Show AAGATAATTTGAAATAG	A A	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0318 a0001c0001t0004g0318	1	364	0.0028	-16	c.384 others(33): Show c.384+4336_384+4351delCTATTTCAAATTATCT	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	4/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8023817	CGTGCACA others(9): Show CGTGCACATGTGTATAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02109.hp1 HG02258.hp1 others(13): Show HG01099.hp2 HG02109.hp1 HG02258.hp1 HG02622.hp1 HG02717.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03195.hp1 HG03688.hp2 HG03710.hp2 HG03927.hp2 NA18961.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0239 a0001c0001t0005g0018 a0001c0001t0005g0203 others(12): Show a0001c0001t0003g0239 a0001c0001t0005g0018 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0305	16	364	0.0440	-16	c.384 others(33): Show c.384+2534_384+2549delATATACACATGTGCAC	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	4/4			chr6	TogoVar

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