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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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
AXIN2_chr17_65523563_65566648	65538667	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0024 a0007c0024	a0007c0024t0001 a0007c0024t0001	a0007c0024t0001g0289 a0007c0024t0001g0289	1	402	0.0025	-17	c.106 others(34): Show c.1060-341_1060-325delTTTTTTTTTTTTTTTTT	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	4/10			chr17	TogoVar
AZIN1_chr8_102821308_102869163	102847356	AAAAAAAA others(10): Show AAAAAAAAAAAAAACAAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG01361.hp2 others(48): Show HG00408.hp1 HG00558.hp1 HG01361.hp2 HG01496.hp1 HG02004.hp2 HG02027.hp1 HG02132.hp2 HG02293.hp2 HG03669.hp1 NA18612.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18959.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18991.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19066.hp1 NA19072.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0010 a0001c0003t0020 others(1): Show a0001c0003t0002 a0001c0003t0010 a0001c0003t0020 a0001c0003t0021	a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0013 others(29): Show a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0013 a0001c0003t0002g0014 a0001c0003t0002g0015 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0203 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0207 a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 a0001c0003t0002g0212 a0001c0003t0002g0213 a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0002g0218 a0001c0003t0010g0289 a0001c0003t0010g0290 a0001c0003t0010g0291 a0001c0003t0010g0292 a0001c0003t0020g0206 a0001c0003t0021g0208	51	380	0.1342	-17	c.-95 others(34): Show c.-95-3626_-95-3610delATTGTTTTTTTTTTTTT	AZIN1	ENSG00000155096.15	transcript	ENST00000337198.10	protein_coding	2/11			chr8	TogoVar
B3GALNT2_chr1_235442190_235509452	235474968	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	344	0.0029	-17	c.652 others(34): Show c.652-4025_652-4009delTATATATATATATATAT	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11			chr1	TogoVar
B3GNT3_chr19_17790138_17818576	17814613	CCTGAGCA others(10): Show CCTGAGCAGAATTTAAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	406	0.0025	-17	c.24 others(28): Show c.2492_*2508delCTGAGCAGAATTTAAAT	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding		1038		chr19	TogoVar
B3GNT6_chr11_77029398_77046973	77046265	CCGCATCC others(10): Show CCGCATCCCGCACACACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0003	1	442	0.0023	-17	c.55 others(28): Show c.5560_*5576delCGCATCCCGCACACACG	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding		4293		chr11	TogoVar
B4GALNT3_chr12_454939_568509	511013	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0384 a0001c0001t0005g0384	1	394	0.0025	-17	c.170 others(36): Show c.170-24127_170-24111delTTTTTTTTTTTTTTTTT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511438	CCTTCCAC others(10): Show CCTTCCACCTTCCACCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01106.hp1 others(23): Show HG00140.hp1 HG00140.hp2 HG01106.hp1 HG01175.hp1 HG01261.hp2 HG01361.hp2 HG02015.hp2 HG02572.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02896.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03491.hp1 HG03492.hp1 HG03710.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18952.hp1 NA18981.hp2 NA19077.hp2 NA19240.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0023 a0026	a0001c0001 a0001c0002 a0001c0044 others(9): Show a0001c0001 a0001c0002 a0001c0044 a0002c0003 a0003c0004 a0004c0005 a0005c0006 a0006c0007 a0008c0012 a0009c0009 a0023c0046 a0026c0024	a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 others(20): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 a0001c0001t0046 a0001c0002t0002 a0001c0002t0073 a0001c0044t0001 a0002c0003t0003 a0002c0003t0041 a0003c0004t0001 a0003c0004t0005 a0003c0004t0024 a0004c0005t0016 a0004c0005t0034 a0004c0005t0043 a0004c0005t0085 a0005c0006t0008 a0005c0006t0016 a0006c0007t0002 a0008c0012t0010 a0009c0009t0003 a0023c0046t0013 a0026c0024t0002	a0001c0001t0001g0116 a0001c0001t0001g0223 a0001c0001t0006g0065 others(23): Show a0001c0001t0001g0116 a0001c0001t0001g0223 a0001c0001t0006g0065 a0001c0001t0020g0212 a0001c0001t0046g0312 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0073g0062 a0001c0044t0001g0383 a0002c0003t0003g0272 a0002c0003t0041g0221 a0003c0004t0001g0217 a0003c0004t0005g0172 a0003c0004t0005g0173 a0003c0004t0024g0171 a0004c0005t0016g0295 a0004c0005t0034g0371 a0004c0005t0043g0219 a0004c0005t0085g0081 a0005c0006t0008g0216 a0005c0006t0016g0188 a0006c0007t0002g0311 a0008c0012t0010g0293 a0009c0009t0003g0041 a0023c0046t0013g0245 a0026c0024t0002g0090	26	394	0.0660	-17	c.170 others(36): Show c.170-23699_170-23683delCACCTTCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511819	CCTTCCAC others(10): Show CCTTCCACCTTCCACCTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0020 a0003c0004t0020	a0003c0004t0020g0189 a0003c0004t0020g0189	1	394	0.0025	-17	c.170 others(36): Show c.170-23328_170-23312delTTCCACCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	512183	TCCACCTT others(10): Show TCCACCTTCCGCCTTCCA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02145.hp1 others(9): Show HG01884.hp1 HG01884.hp2 HG02145.hp1 HG02622.hp2 HG02723.hp2 HG02886.hp2 HG03098.hp2 HG03130.hp2 NA18906.hp1 NA19030.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0019	a0001c0002 a0001c0013 a0001c0016 others(6): Show a0001c0002 a0001c0013 a0001c0016 a0002c0003 a0002c0034 a0004c0027 a0004c0028 a0007c0008 a0019c0037	a0001c0002t0013 a0001c0013t0002 a0001c0016t0088 others(7): Show a0001c0002t0013 a0001c0013t0002 a0001c0016t0088 a0002c0003t0090 a0002c0034t0072 a0004c0027t0078 a0004c0028t0004 a0007c0008t0007 a0007c0008t0027 a0019c0037t0002	a0001c0002t0013g0175 a0001c0013t0002g0177 a0001c0016t0088g0229 others(9): Show a0001c0002t0013g0175 a0001c0013t0002g0177 a0001c0016t0088g0229 a0002c0003t0090g0143 a0002c0034t0072g0210 a0004c0027t0078g0276 a0004c0028t0004g0207 a0007c0008t0007g0187 a0007c0008t0027g0142 a0007c0008t0027g0144 a0007c0008t0027g0145 a0019c0037t0002g0227	12	394	0.0305	-17	c.170 others(36): Show c.170-22980_170-22964delACCTTCCGCCTTCCACC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	512276	CCTTCCAC others(10): Show CCTTCCACCTTCCACCTT	C C	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0014 a0004c0005t0014	a0004c0005t0014g0290 a0004c0005t0014g0290	1	394	0.0025	-17	c.170 others(36): Show c.170-22854_170-22838delTTCCACCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	545656	AGTGGGGA others(10): Show AGTGGGGAGGAGCGAGGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG01168.hp2 others(19): Show HG00639.hp1 HG01081.hp2 HG01168.hp2 HG01175.hp1 HG01361.hp1 HG01891.hp1 HG01928.hp2 HG02148.hp2 HG02165.hp2 HG02572.hp1 HG02622.hp1 HG02922.hp2 HG03710.hp1 HG04115.hp2 NA18612.hp1 NA18947.hp2 NA18950.hp2 NA18962.hp1 NA18967.hp2 NA18993.hp1 NA18999.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0009 a0026 a0027	a0001c0002 a0004c0005 a0005c0006 others(4): Show a0001c0002 a0004c0005 a0005c0006 a0005c0017 a0009c0009 a0026c0024 a0027c0026	a0001c0002t0002 a0004c0005t0004 a0004c0005t0043 others(16): Show a0001c0002t0002 a0004c0005t0004 a0004c0005t0043 a0005c0006t0001 a0005c0006t0003 a0005c0006t0007 a0005c0006t0008 a0005c0006t0011 a0005c0006t0035 a0005c0006t0063 a0005c0006t0093 a0005c0017t0001 a0005c0017t0002 a0009c0009t0003 a0009c0009t0004 a0009c0009t0006 a0009c0009t0082 a0026c0024t0002 a0027c0026t0003	a0001c0002t0002g0331 a0004c0005t0004g0354 a0004c0005t0043g0219 others(19): Show a0001c0002t0002g0331 a0004c0005t0004g0354 a0004c0005t0043g0219 a0005c0006t0001g0161 a0005c0006t0001g0304 a0005c0006t0003g0160 a0005c0006t0003g0238 a0005c0006t0007g0146 a0005c0006t0008g0216 a0005c0006t0011g0022 a0005c0006t0035g0356 a0005c0006t0063g0183 a0005c0006t0093g0233 a0005c0017t0001g0267 a0005c0017t0002g0259 a0009c0009t0003g0041 a0009c0009t0004g0097 a0009c0009t0006g0045 a0009c0009t0006g0133 a0009c0009t0082g0039 a0026c0024t0002g0090 a0027c0026t0003g0059	22	394	0.0558	-17	c.639 others(32): Show c.639+216_639+232delCGAGGTGTGGGGAGGAG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	545787	AGAGGAAT others(10): Show AGAGGAATGGGGAGGAGC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG02622.hp2 others(8): Show HG01884.hp2 HG02615.hp2 HG02622.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03195.hp1 HG03516.hp1 NA18906.hp1	a0002 a0007 a0023 a0002 a0007 a0023	a0002c0003 a0007c0008 a0023c0046 a0002c0003 a0007c0008 a0023c0046	a0002c0003t0050 a0002c0003t0090 a0007c0008t0007 others(5): Show a0002c0003t0050 a0002c0003t0090 a0007c0008t0007 a0007c0008t0017 a0007c0008t0027 a0007c0008t0037 a0007c0008t0068 a0023c0046t0013	a0002c0003t0050g0278 a0002c0003t0090g0143 a0007c0008t0007g0187 others(8): Show a0002c0003t0050g0278 a0002c0003t0090g0143 a0007c0008t0007g0187 a0007c0008t0007g0287 a0007c0008t0017g0147 a0007c0008t0027g0142 a0007c0008t0027g0144 a0007c0008t0027g0145 a0007c0008t0037g0114 a0007c0008t0068g0308 a0023c0046t0013g0245	11	394	0.0279	-17	c.639 others(32): Show c.639+324_639+340delATGGGGAGGAGCGAGGA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	545967	GTGAGAGG others(10): Show GTGAGAGGAGTGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01243.hp2 HG01106.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0081 a0001c0002t0094 a0001c0002t0081 a0001c0002t0094	a0001c0002t0081g0279 a0001c0002t0094g0141 a0001c0002t0081g0279 a0001c0002t0094g0141	2	394	0.0051	-17	c.639 others(32): Show c.639+515_639+531delATGAGAGGAGTGGGGAG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	370004	GGCGCGGG others(10): Show GGCGCGGGGGGCGCGGGC	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0174 a0001c0003t0002g0174	1	184	0.0054	-17	c.151 others(30): Show c.151+52_151+68delCGCGGGGGGCGCGGGCG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33166271	ATCAGGAG others(10): Show ATCAGGAGAAAAACCCAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0048 a0005c0005t0048	a0005c0005t0048g0289 a0005c0005t0048g0289	1	366	0.0027	-17	c.412 others(32): Show c.412+470_412+486delGTGGGTTTTTCTCCTGA	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT6_chr18_31617246_31689581	31688796	AAAGGTAG others(10): Show AAAGGTAGCAGAGCTGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG03209.hp1 others(1): Show HG02055.hp1 HG02257.hp1 HG03209.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0008 a0001c0001t0015 a0001c0005t0007 a0001c0001t0008 a0001c0001t0015 a0001c0005t0007	a0001c0001t0008g0225 a0001c0001t0008g0246 a0001c0001t0015g0247 others(1): Show a0001c0001t0008g0225 a0001c0001t0008g0246 a0001c0001t0015g0247 a0001c0005t0007g0167	4	306	0.0131	-17	c.-43 others(28): Show c.-4387_-4371delCCCAGCTCTGCTACCTT	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding		4216		chr18	TogoVar
B4GALT7_chr5_177595132_177615330	177615115	TGCTGCTG others(10): Show TGCTGCTGCACAAATTAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	1	458	0.0022	-17	c.54 others(28): Show c.5421_*5437delGCTGCTGCACAAATTAG	B4GALT7	ENSG00000027847.14	transcript	ENST00000029410.10	protein_coding		4786		chr5	TogoVar
BABAM1_chr19_17262443_17284337	17273547	TTTTTTTT others(10): Show TTTTTTTTGTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02572.hp2 HG02818.hp2 others(6): Show HG01070.hp2 HG02572.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03139.hp2 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0080 a0001c0001t0001g0094 others(4): Show a0001c0001t0001g0036 a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0002t0001g0043 a0001c0002t0001g0117 a0001c0002t0001g0125 a0001c0002t0001g0126	9	424	0.0212	-17	c.345 others(32): Show c.345-349_345-333delGTTTGTTTTGTTTTTTT	BABAM1	ENSG00000105393.16	transcript	ENST00000598188.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BABAM2_chr2_27885729_28343901	27920320	GATGCCTT others(10): Show GATGCCTTTGCAGATAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03139.hp1 HG03516.hp1 HG01109.hp2 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0016	3	158	0.0190	-17	c.129 others(34): Show c.129-9507_129-9491delCTTTGCAGATAAAATGC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28315446	CTTTTCTT others(10): Show CTTTTCTTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03540.hp1 HG01891.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0138 a0001c0001t0001g0005 a0001c0001t0001g0138	2	158	0.0127	-17	c.108 others(38): Show c.1088+16958_1088+16974delTTCTTTTCTTTTCTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BACH2_chr6_89921528_90301843	90014458	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00621.hp1 others(17): Show HG00099.hp2 HG00438.hp1 HG00621.hp1 HG00741.hp1 HG01167.hp1 HG01169.hp1 HG01934.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp2 HG02165.hp1 HG02602.hp1 HG02602.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 NA18979.hp2 NA19068.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0041 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0041 a0001c0001t0070 a0001c0001t0117 a0001c0002t0006 a0001c0002t0025 a0001c0002t0061 a0001c0002t0077 a0001c0003t0011 a0001c0003t0115 a0001c0004t0029 a0001c0004t0033 a0001c0005t0005 a0001c0005t0010 a0001c0005t0099 a0001c0005t0107	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0003g0053 others(17): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0003g0053 a0001c0001t0041g0015 a0001c0001t0070g0147 a0001c0001t0117g0066 a0001c0002t0006g0051 a0001c0002t0025g0181 a0001c0002t0061g0026 a0001c0002t0077g0152 a0001c0003t0011g0166 a0001c0003t0115g0136 a0001c0004t0029g0003 a0001c0004t0033g0007 a0001c0005t0005g0034 a0001c0005t0005g0095 a0001c0005t0010g0120 a0001c0005t0010g0133 a0001c0005t0099g0014 a0001c0005t0107g0099	20	194	0.1031	-17	c.-12 others(34): Show c.-12-5619_-12-5603delAAAAAAATATATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90014460	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01071.hp1 HG02055.hp1 others(3): Show HG00423.hp1 HG01071.hp1 HG02055.hp1 HG02896.hp2 NA18522.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0011 a0001c0001t0044 others(3): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0044 a0001c0001t0136 a0001c0002t0057 a0001c0004t0016	a0001c0001t0003g0029 a0001c0001t0011g0127 a0001c0001t0044g0164 others(3): Show a0001c0001t0003g0029 a0001c0001t0011g0127 a0001c0001t0044g0164 a0001c0001t0136g0192 a0001c0002t0057g0023 a0001c0004t0016g0086	6	194	0.0309	-17	c.-12 others(34): Show c.-12-5621_-12-5605delAAAAAAAAATATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/8			chr6	TogoVar
BAG4_chr8_38171855_38218301	38201863	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	306	0.0033	-17	c.379 others(34): Show c.379-5648_379-5632delATATATATATATATATA	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4			chr8	TogoVar
BAG4_chr8_38171855_38218301	38201870	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	306	0.0033	-17	c.379 others(34): Show c.379-5640_379-5624delATATATATATTTTTTTT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAHCC1_chr17_81390457_81471331	81393913	CCCCTTTC others(10): Show CCCCTTTCTCTCCAGATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03486.hp1 HG02976.hp2 HG03486.hp1	a0001 a0017 a0001 a0017	a0001c0007 a0017c0023 a0001c0007 a0017c0023	a0001c0007t0009 a0017c0023t0038 a0001c0007t0009 a0017c0023t0038	a0001c0007t0009g0014 a0017c0023t0038g0027 a0001c0007t0009g0014 a0017c0023t0038g0027	2	332	0.0060	-17	c.-19 others(28): Show c.-1928_-1912delCCCTTTCTCTCCAGATT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding		1543		chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81446526	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0030 a0001c0009t0030	a0001c0009t0030g0263 a0001c0009t0030g0263	1	332	0.0030	-17	c.316 others(34): Show c.3164-488_3164-472delTTTTTTTTTTTTTTTTT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHD1_chr15_40435953_40473236	40470922	CCCCGCCC others(10): Show CCCCGCCCCCGGCGTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0113 a0001c0001t0020g0113	1	372	0.0027	-17	c.47 others(28): Show c.4793_*4809delCCCGCCCCCGGCGTGGG	BAHD1	ENSG00000140320.12	transcript	ENST00000416165.6	protein_coding		2687		chr15	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357039	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	298	0.0034	-17	c.128 others(34): Show c.128-1928_128-1912delAAAAAAATATATATATA	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81056903	GTTTTTCT others(10): Show GTTTTTCTGCTGTTGCGT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0179 a0001c0001t0043g0179	1	376	0.0027	-17	c.131 others(32): Show c.131-973_131-957delTCTGCTGTTGCGTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81091909	TGGTGGTG others(10): Show TGGTGGTGCAGCCATGTG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	376	0.0027	-17	c.489 others(34): Show c.489+5339_489+5355delGCCATGTGGGTGGTGCA	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAK1_chr6_33567552_33585276	33575610	AGGCATGG others(10): Show AGGCATGGGCTAAAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG02280.hp2 others(2): Show HG00642.hp1 HG01081.hp1 HG02280.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0020 a0001c0001t0001g0082 a0001c0001t0001g0086	5	434	0.0115	-17	c.206 others(32): Show c.206+166_207-170delCCTTTTTAGCCCATGCC	BAK1	ENSG00000030110.14	transcript	ENST00000374467.4	protein_coding	3/5			chr6	TogoVar
BANK1_chr4_101785730_102079812	101839937	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00735.hp1 others(25): Show HG00558.hp2 HG00597.hp2 HG00735.hp1 HG00741.hp2 HG01243.hp2 HG01496.hp2 HG01934.hp2 HG02015.hp1 HG02071.hp1 HG02129.hp2 HG02135.hp2 HG03098.hp2 HG03491.hp1 HG04204.hp1 HG04228.hp2 NA18906.hp1 NA18940.hp1 NA18955.hp1 NA18959.hp2 NA18966.hp2 NA18978.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp1 NA19062.hp2 NA19091.hp1 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0002c0003 others(6): Show a0001c0001 a0001c0002 a0002c0003 a0002c0019 a0003c0004 a0004c0005 a0004c0009 a0005c0006 a0007c0016	a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 others(9): Show a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0019t0002 a0003c0004t0001 a0003c0004t0003 a0004c0005t0001 a0004c0009t0002 a0005c0006t0001 a0005c0006t0003 a0007c0016t0002	a0001c0001t0002g0020 a0001c0002t0001g0108 a0002c0003t0001g0207 others(25): Show a0001c0001t0002g0020 a0001c0002t0001g0108 a0002c0003t0001g0207 a0002c0003t0002g0007 a0002c0003t0002g0185 a0002c0003t0002g0186 a0002c0003t0002g0187 a0002c0003t0002g0196 a0002c0003t0002g0201 a0002c0003t0002g0203 a0002c0003t0002g0234 a0002c0019t0002g0039 a0003c0004t0001g0015 a0003c0004t0001g0052 a0003c0004t0001g0206 a0003c0004t0001g0254 a0003c0004t0001g0255 a0003c0004t0001g0256 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0268 a0003c0004t0003g0252 a0003c0004t0003g0267 a0004c0005t0001g0022 a0004c0009t0002g0171 a0005c0006t0001g0167 a0005c0006t0003g0278 a0007c0016t0002g0273	28	284	0.0986	-17	c.469 others(34): Show c.469+9764_469+9780delTTTTTTTTTTTTTTTTT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANP_chr16_87946434_88082316	88081751	AGGGATGT others(10): Show AGGGATGTAGCCTGTTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02280.hp1 others(12): Show HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02717.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03195.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0011 others(2): Show a0001c0001 a0001c0009 a0001c0011 a0001c0023 a0001c0032	a0001c0001t0005 a0001c0009t0005 a0001c0011t0005 others(2): Show a0001c0001t0005 a0001c0009t0005 a0001c0011t0005 a0001c0023t0005 a0001c0032t0005	a0001c0001t0005g0253 a0001c0009t0005g0096 a0001c0009t0005g0097 others(12): Show a0001c0001t0005g0253 a0001c0009t0005g0096 a0001c0009t0005g0097 a0001c0009t0005g0098 a0001c0009t0005g0099 a0001c0009t0005g0100 a0001c0009t0005g0101 a0001c0009t0005g0102 a0001c0009t0005g0103 a0001c0009t0005g0104 a0001c0009t0005g0105 a0001c0011t0005g0120 a0001c0011t0005g0121 a0001c0023t0005g0289 a0001c0032t0005g0107	15	352	0.0426	-17	c.50 others(28): Show c.5091_*5107delGGGATGTAGCCTGTTGG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding		4436		chr16	TogoVar
BARD1_chr2_214720646_214814683	214722689	GAAATGAC others(10): Show GAAATGACGAGTTAATGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02055.hp1 others(17): Show HG01109.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02486.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 NA18522.hp2 NA18906.hp1	a0004 a0005 a0008 others(3): Show a0004 a0005 a0008 a0009 a0010 a0019	a0004c0007 a0005c0006 a0008c0009 others(3): Show a0004c0007 a0005c0006 a0008c0009 a0009c0011 a0010c0012 a0019c0026	a0004c0007t0068 a0005c0006t0020 a0005c0006t0046 others(7): Show a0004c0007t0068 a0005c0006t0020 a0005c0006t0046 a0008c0009t0021 a0008c0009t0025 a0008c0009t0049 a0009c0011t0032 a0009c0011t0047 a0010c0012t0012 a0019c0026t0025	a0004c0007t0068g0265 a0005c0006t0020g0022 a0005c0006t0020g0023 others(15): Show a0004c0007t0068g0265 a0005c0006t0020g0022 a0005c0006t0020g0023 a0005c0006t0020g0024 a0005c0006t0046g0035 a0008c0009t0021g0015 a0008c0009t0021g0223 a0008c0009t0025g0266 a0008c0009t0025g0267 a0008c0009t0049g0222 a0009c0011t0032g0025 a0009c0011t0032g0115 a0009c0011t0047g0116 a0010c0012t0012g0012 a0010c0012t0012g0201 a0010c0012t0012g0202 a0010c0012t0012g0215 a0019c0026t0025g0331	20	362	0.0553	-17	c.59 others(28): Show c.5970_*5986delTCATTAACTCGTCATTT	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding		2956		chr2	TogoVar
BAZ1B_chr7_73435406_73527293	73456937	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02965.hp1 HG03516.hp1 others(1): Show HG00738.hp1 HG02965.hp1 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0091 a0001c0001t0001g0146 a0001c0001t0005g0180 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0146 a0001c0001t0005g0180 a0001c0001t0005g0182	4	200	0.0200	-17	c.343 others(36): Show c.3432+2582_3432+2598delTTTTTTTTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	13/19			chr7	TogoVar
BAZ2B_chr2_159313979_159621548	159383384	TCTTCTAA others(10): Show TCTTCTAAGTATGAAGAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01361.hp2 others(9): Show HG00438.hp1 HG00558.hp2 HG01361.hp2 HG02109.hp1 HG02280.hp1 HG03098.hp1 HG03834.hp1 NA18963.hp1 NA19002.hp1 NA19057.hp2 NA19084.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0019	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0019c0017	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 others(4): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0004c0004t0001 a0004c0004t0002 a0006c0006t0002 a0019c0017t0001	a0001c0001t0001g0104 a0002c0002t0002g0143 a0003c0003t0001g0031 others(9): Show a0001c0001t0001g0104 a0002c0002t0002g0143 a0003c0003t0001g0031 a0004c0004t0001g0005 a0004c0004t0001g0013 a0004c0004t0001g0070 a0004c0004t0001g0076 a0004c0004t0001g0109 a0004c0004t0001g0119 a0004c0004t0002g0203 a0006c0006t0002g0145 a0019c0017t0001g0006	12	216	0.0556	-17	c.376 others(34): Show c.3761+205_3761+221delTTCTTCATACTTAGAAG	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	24/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159590187	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(53): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00544.hp2 HG00558.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp2 HG01081.hp1 HG01109.hp1 HG01192.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp2 HG01978.hp2 HG02004.hp1 HG02040.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp2 HG02895.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03516.hp1 HG03540.hp2 HG03710.hp2 HG04204.hp1 HG06807.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18952.hp2 NA18963.hp2 NA18969.hp1 NA18974.hp2 NA18984.hp1 NA18986.hp2 NA18999.hp1 NA19002.hp1 NA19007.hp1 NA19055.hp2 NA19057.hp2 NA19081.hp2 NA19083.hp1 NA19086.hp2 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0014 a0016 a0017 a0019 a0021	a0001c0001 a0001c0008 a0001c0020 others(15): Show a0001c0001 a0001c0008 a0001c0020 a0002c0002 a0002c0007 a0002c0018 a0003c0003 a0003c0013 a0004c0004 a0005c0005 a0006c0006 a0008c0011 a0010c0030 a0014c0024 a0016c0026 a0017c0027 a0019c0017 a0021c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0008t0001 a0001c0020t0001 a0002c0002t0001 a0002c0002t0002 a0002c0007t0001 a0002c0018t0001 a0003c0003t0001 a0003c0013t0006 a0004c0004t0001 a0005c0005t0001 a0006c0006t0001 a0008c0011t0001 a0010c0030t0001 a0014c0024t0001 a0016c0026t0001 a0017c0027t0001 a0019c0017t0001 a0021c0012t0001	a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0040 others(53): Show a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0002g0205 a0001c0001t0004g0003 a0001c0001t0007g0086 a0001c0008t0001g0060 a0001c0020t0001g0046 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0002g0206 a0002c0007t0001g0045 a0002c0018t0001g0066 a0003c0003t0001g0056 a0003c0003t0001g0059 a0003c0003t0001g0063 a0003c0003t0001g0065 a0003c0013t0006g0058 a0004c0004t0001g0005 a0004c0004t0001g0070 a0004c0004t0001g0076 a0005c0005t0001g0034 a0005c0005t0001g0069 a0006c0006t0001g0007 a0006c0006t0001g0081 a0008c0011t0001g0052 a0008c0011t0001g0080 a0010c0030t0001g0039 a0014c0024t0001g0088 a0016c0026t0001g0075 a0017c0027t0001g0106 a0019c0017t0001g0006 a0021c0012t0001g0073	56	216	0.2593	-17	c.-46 others(36): Show c.-46+26038_-46+26054delTTTTTTTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BBS10_chr12_76339474_76353415	76340000	CCCACCTC others(10): Show CCCACCTCTTTTCCTTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03540.hp2 HG02257.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	416	0.0048	-17	c.57 others(28): Show c.5796_*5812delACAAGGAAAAGAGGTGG	BBS10	ENSG00000179941.9	transcript	ENST00000650064.2	protein_coding		4473		chr12	TogoVar
BBS5_chr2_169474494_169511655	169489851	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0152 a0001c0001t0007g0152	1	398	0.0025	-17	c.386 others(34): Show c.386+1762_386+1778delTTTTTTTTTTTTTTTTT	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BBX_chr3_107517962_107816339	107616005	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01243.hp1 HG00099.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0201 a0001c0008t0001g0121 a0001c0001t0001g0201 a0001c0008t0001g0121	2	222	0.0090	-17	c.-83 others(36): Show c.-83-29810_-83-29794delTTTTTTTTTTTTTTTTT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107769224	AGATAGAC others(10): Show AGATAGACAGATAGATAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01891.hp1 NA21309.hp1 HG01081.hp2 HG01891.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0031 a0001c0001t0002g0216 a0001c0001t0020g0023 a0001c0001t0002g0031 a0001c0001t0002g0216 a0001c0001t0020g0023	3	222	0.0135	-17	c.907 others(34): Show c.907-3397_907-3381delCAGATAGATAGGATAGA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAM_chr19_44804103_44826421	44819913	CCATCCCC others(10): Show CCATCCCCAACTCATCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(224): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0007 a0010 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0003 a0001c0004 others(18): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0024 a0001c0030 a0001c0032 a0002c0002 a0002c0007 a0002c0008 a0002c0010 a0002c0025 a0003c0006 a0003c0019 a0007c0011 a0010c0017 a0012c0021 a0013c0022 a0014c0015 a0015c0028 a0016c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0002 a0001c0024t0002 a0001c0030t0002 a0001c0032t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0007t0002 a0002c0008t0002 a0002c0010t0002 a0002c0025t0002 a0003c0006t0001 a0003c0006t0003 a0003c0019t0002 a0007c0011t0002 a0010c0017t0001 a0012c0021t0002 a0013c0022t0001 a0014c0015t0001 a0015c0028t0002 a0016c0029t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0047 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0104 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0122 a0001c0001t0003g0039 a0001c0001t0003g0055 a0001c0001t0003g0086 a0001c0001t0003g0094 a0001c0001t0004g0039 a0001c0003t0002g0071 a0001c0003t0002g0147 a0001c0004t0001g0065 a0001c0004t0002g0009 a0001c0004t0002g0059 a0001c0005t0002g0002 a0001c0024t0002g0001 a0001c0030t0002g0002 a0001c0032t0001g0004 a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0022 a0002c0002t0001g0033 a0002c0002t0001g0049 a0002c0002t0001g0080 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0018 a0002c0002t0002g0021 a0002c0002t0002g0023 a0002c0002t0002g0038 a0002c0002t0002g0041 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0058 a0002c0002t0002g0060 a0002c0002t0002g0091 a0002c0002t0002g0103 a0002c0002t0002g0134 a0002c0002t0002g0141 a0002c0002t0006g0022 a0002c0002t0007g0002 a0002c0002t0008g0002 a0002c0007t0002g0070 a0002c0007t0002g0075 a0002c0007t0002g0077 a0002c0008t0002g0009 a0002c0010t0002g0009 a0002c0025t0002g0053 a0003c0006t0001g0035 a0003c0006t0001g0050 a0003c0006t0003g0035 a0003c0019t0002g0027 a0007c0011t0002g0029 a0010c0017t0001g0069 a0012c0021t0002g0014 a0013c0022t0001g0004 a0014c0015t0001g0001 a0015c0028t0002g0009 a0016c0029t0002g0046	227	410	0.5537	-17	c.176 others(34): Show c.1763+199_1763+215delCATCCTCATCCCCAACT	BCAM	ENSG00000187244.12	transcript	ENST00000270233.12	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BCAR3_chr1_93556741_93686837	93573130	TCAGGCCT others(10): Show TCAGGCCTGTAATCCCAG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01069.hp1 others(20): Show HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01517.hp1 HG02109.hp2 HG02145.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02976.hp1 HG03471.hp2 HG03579.hp1 HG03710.hp2 HG06807.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0001c0018 others(1): Show a0001c0001 a0001c0008 a0001c0018 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0001c0018t0001 a0004c0005t0001 a0004c0005t0002 a0004c0005t0006	a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0053 others(20): Show a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0151 a0001c0001t0001g0181 a0001c0001t0002g0192 a0001c0001t0002g0197 a0001c0008t0001g0102 a0001c0008t0001g0183 a0001c0018t0001g0032 a0004c0005t0001g0031 a0004c0005t0001g0054 a0004c0005t0001g0062 a0004c0005t0002g0194 a0004c0005t0006g0186	23	202	0.1139	-17	c.180 others(36): Show c.1803-1306_1803-1290delCTGGGATTACAGGCCTG	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	8/11			chr1	TogoVar
BCAS3_chr17_60672851_61397831	60683505	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0034 a0001c0004t0001g0034	1	74	0.0135	-17	c.84- others(30): Show c.84-454_84-438delTTTTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60770400	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0028 a0003c0001t0001g0028	1	74	0.0135	-17	c.403 others(36): Show c.403+23142_403+23158delTTTTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS4_chr20_50790061_50882177	50796470	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03491.hp2 HG03492.hp1 HG01071.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0007g0265 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0007g0265	3	270	0.0111	-17	c.90+ others(32): Show c.90+1298_90+1314delATATATATATATATATA	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	1/4			chr20	TogoVar
BCAS4_chr20_50790061_50882177	50796475	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	270	0.0037	-17	c.90+ others(32): Show c.90+1304_90+1320delATATATATATATTTTTT	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCAS4_chr20_50790061_50882177	50816791	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0038 a0002c0002t0003g0038	1	270	0.0037	-17	c.91- others(32): Show c.91-1405_91-1389delTTTTTTTTTTTTTTTTT	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCAT1_chr12_24805024_24954101	24829071	CAAAATAT others(10): Show CAAAATATTGAAGGTTAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0271 a0001c0001t0011g0271	1	322	0.0031	-17	c.111 others(34): Show c.1119+735_1119+751delTTAACCTTCAATATTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	10/10			chr12	TogoVar
BCL11A_chr2_60452194_60558654	60530654	GATGTACA others(10): Show GATGTACAGTCAGCAGGT	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0007 a0001c0002t0014g0007	1	262	0.0038	-17	c.385 others(36): Show c.385+15300_385+15316delACCTGCTGACTGTACAT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar

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