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
ATR_chr3_142444235_142583733	142496278	CTATATAT others(16): Show CTATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18961.hp1 NA18986.hp2 NA18944.hp1 NA18961.hp1 NA18986.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0176 a0003c0003t0001g0001 a0003c0003t0001g0176	3	322	0.0093	-23	c.589 others(38): Show c.5898+60_5898+82delATATATATATATATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142551260	CAGATAAA others(16): Show CAGATAAATAAATAAAAATTAGCT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0235 a0002c0002t0001g0235	1	322	0.0031	-23	c.280 others(40): Show c.2806-981_2806-959delAGCTAATTTTTATTTATTTATCT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	13/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45753377	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp2 HG01109.hp2 others(7): Show HG00099.hp2 HG01099.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01884.hp1 NA19070.hp2 NA19088.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0084 others(7): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0181	10	316	0.0317	-23	c.117 others(44): Show c.1173+12865_1173+12887delTTTTTTTTTTTTTTTTTTTTTTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN2_chr12_111447214_111604315	111569501	AGTCCAGG others(16): Show AGTCCAGGAATTTGAGACCAGCCT	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0166 a0001c0003t0001g0166	1	298	0.0034	-23	c.252 others(42): Show c.252-13605_252-13583delAGGCTGGTCTCAAATTCCTGGAC	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN7L1_chr7_105599772_105881599	105619516	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01081.hp1 others(5): Show HG00642.hp1 HG00738.hp1 HG01081.hp1 HG02015.hp2 NA18954.hp1 NA18962.hp2 NA18970.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0009 a0001c0001t0003g0076 a0001c0001t0003g0086 others(5): Show a0001c0001t0001g0009 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0008g0015 a0001c0001t0011g0012 a0001c0001t0011g0099 a0001c0001t0011g0143 a0001c0001t0013g0236	8	252	0.0318	-23	c.151 others(40): Show c.1517+661_1517+683delAAAAAAAAATATATATATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619518	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0083 a0001c0001t0014g0083	1	252	0.0040	-23	c.151 others(40): Show c.1517+659_1517+681delAAAAAAAAAAATATATATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L3B_chr12_74532835_74550430	74533857	AATAAAAA others(16): Show AATAAAAATAAAAAAAAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01255.hp2 others(7): Show HG00140.hp1 HG00323.hp2 HG01255.hp2 HG01358.hp1 HG02015.hp2 HG03710.hp1 NA18747.hp2 NA18984.hp2 NA19001.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0054 others(1): Show a0001c0001t0015 a0001c0001t0016 a0001c0001t0054 a0001c0001t0069	a0001c0001t0015g0000 a0001c0001t0016g0000 a0001c0001t0054g0000 others(1): Show a0001c0001t0015g0000 a0001c0001t0016g0000 a0001c0001t0054g0000 a0001c0001t0069g0000	10	408	0.0245	-23	c.-42 others(34): Show c.-4255_-4233delATAAAAATAAAAAAAAAATAAAT	ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding		3977		chr12	TogoVar
AUTS2_chr7_69593475_70798506	70117114	TTTGTTTT others(16): Show TTTGTTTTTTTTTGTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	76	0.0132	-23	c.523 others(39): Show c.523-1015_523-993delGTTTTTTTTTGTTTTTTTTTGTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70517511	TATATACA others(16): Show TATATACACATATATACAAATTGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(38): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01175.hp1 HG01243.hp2 HG01433.hp2 HG01952.hp2 HG02055.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG04199.hp1 NA18612.hp2 NA18952.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0002c0002 a0003c0006 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0008 a0001c0003t0027 a0001c0005t0030 a0001c0007t0006 a0001c0008t0017 a0002c0002t0001 a0002c0002t0026 a0002c0002t0031 a0002c0002t0036 a0003c0006t0003 a0004c0009t0001	a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0036 others(38): Show a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0074 a0001c0001t0002g0047 a0001c0001t0003g0031 a0001c0001t0003g0035 a0001c0001t0003g0061 a0001c0001t0003g0068 a0001c0001t0004g0048 a0001c0001t0005g0005 a0001c0001t0005g0020 a0001c0001t0005g0028 a0001c0001t0007g0040 a0001c0001t0007g0055 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0018g0003 a0001c0001t0019g0075 a0001c0001t0020g0029 a0001c0001t0021g0060 a0001c0001t0022g0032 a0001c0001t0023g0072 a0001c0001t0025g0050 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0008g0069 a0001c0003t0027g0009 a0001c0005t0030g0013 a0001c0007t0006g0027 a0001c0008t0017g0046 a0002c0002t0001g0057 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0002t0036g0017 a0003c0006t0003g0034 a0004c0009t0001g0043	41	76	0.5395	-23	c.690 others(42): Show c.690+81782_690+81804delCACATATATACAAATTGCATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70796445	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	76	0.0132	-23	c.54 others(34): Show c.5450_*5472delTTTTTTTTTTTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding		2940		chr7	TogoVar
AVEN_chr15_33861227_34044204	33931349	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0104 a0002c0002t0001g0104	1	266	0.0038	-23	c.446 others(42): Show c.446-55377_446-55355delAAAAAAAAAAAAAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVL9_chr7_32490489_32593726	32540871	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp2 HG01261.hp1 others(17): Show HG00423.hp2 HG01081.hp2 HG01261.hp1 HG02015.hp1 HG02055.hp2 HG02155.hp1 HG03130.hp1 HG03540.hp2 HG03831.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18945.hp1 NA19056.hp2 NA19066.hp2 NA19068.hp1 NA19078.hp2 NA19080.hp2 NA19091.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009	a0001c0001t0003 a0001c0001t0122 a0001c0001t0140 others(10): Show a0001c0001t0003 a0001c0001t0122 a0001c0001t0140 a0001c0002t0006 a0001c0002t0011 a0001c0002t0019 a0001c0002t0026 a0001c0002t0027 a0001c0002t0029 a0001c0002t0069 a0001c0002t0080 a0001c0008t0117 a0001c0009t0037	a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0220 others(17): Show a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0220 a0001c0001t0122g0196 a0001c0001t0140g0202 a0001c0002t0006g0085 a0001c0002t0006g0103 a0001c0002t0006g0105 a0001c0002t0011g0108 a0001c0002t0019g0075 a0001c0002t0019g0082 a0001c0002t0026g0083 a0001c0002t0026g0102 a0001c0002t0027g0084 a0001c0002t0027g0104 a0001c0002t0029g0086 a0001c0002t0069g0057 a0001c0002t0080g0067 a0001c0008t0117g0052 a0001c0009t0037g0313	20	330	0.0606	-23	c.94- others(38): Show c.94-2247_94-2225delTTTTTTTTTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678879	GGGTGTGT others(16): Show GGGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	446	0.0022	-23	c.287 others(38): Show c.287+717_287+739delACACACACACACACACACACACC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPI1_chr10_97672424_97692241	97678977	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0239 a0002c0002t0001g0239	1	446	0.0022	-23	c.287 others(38): Show c.287+619_287+641delACACACACACACACACACACACA	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AXDND1_chr1_179360971_179559735	179488630	CTCTCCTT others(16): Show CTCTCCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01433.hp2 HG01496.hp1 others(4): Show HG01106.hp2 HG01433.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp1 NA18989.hp2 NA19079.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0298 a0004c0005t0001g0299 a0004c0005t0001g0300 others(4): Show a0004c0005t0001g0298 a0004c0005t0001g0299 a0004c0005t0001g0300 a0004c0005t0001g0301 a0004c0005t0001g0303 a0004c0005t0001g0307 a0004c0005t0001g0309	7	356	0.0197	-23	c.209 others(42): Show c.2092-2904_2092-2882delCCTTTCTTTCTTTCTTTCTTTCT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488634	CCTTTCTT others(16): Show CCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0220 a0002c0001t0001g0220	1	356	0.0028	-23	c.209 others(42): Show c.2092-2903_2092-2881delCTTTCTTTCTTTCTTTCTTTCTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25			chr1	TogoVar
AXIN1_chr16_282440_357723	285839	TCCCAACC others(16): Show TCCCAACCCGGCGGTTCTCCCAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	378	0.0027	-23	c.22 others(34): Show c.2260_*2282delGTTGGGAGAACCGCCGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1600		chr16	TogoVar
AXIN1_chr16_282440_357723	285891	ACCCGCGG others(16): Show ACCCGCGGTTCTCCCAACCCCAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	378	0.0027	-23	c.22 others(34): Show c.2208_*2230delGTTGGGGTTGGGAGAACCGCGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1548		chr16	TogoVar
B3GALNT2_chr1_235442190_235509452	235474969	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03225.hp1 NA19068.hp1 HG03139.hp2 HG03225.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0047 a0001c0002t0003 a0001c0001t0012 a0001c0001t0047 a0001c0002t0003	a0001c0001t0012g0059 a0001c0001t0047g0101 a0001c0002t0003g0299 a0001c0001t0012g0059 a0001c0001t0047g0101 a0001c0002t0003g0299	3	344	0.0087	-23	c.652 others(40): Show c.652-4032_652-4010delAAAAATATATATATATATATATA	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11			chr1	TogoVar
B3GALNT2_chr1_235442190_235509452	235474973	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02280.hp1 HG01243.hp1 HG02145.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0020 a0001c0001t0016 a0001c0001t0020	a0001c0001t0016g0098 a0001c0001t0020g0099 a0001c0001t0020g0100 a0001c0001t0016g0098 a0001c0001t0020g0099 a0001c0001t0020g0100	3	344	0.0087	-23	c.652 others(40): Show c.652-4036_652-4014delAAAAAAAAATATATATATATATA	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11			chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167483898	GAACCTAT others(16): Show GAACCTATCCATGGATCGCATGGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0115 a0001c0003t0044g0115	1	118	0.0085	-23	c.-51 others(42): Show c.-510-6276_-510-6254delCCTATCCATGGATCGCATGGAAA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GNT4_chr12_122198709_122213952	122211077	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	412	0.0024	-23	c.36 others(34): Show c.3690_*3712delAAAAAAAAAAAAAAAAAAAAAAA	B3GNT4	ENSG00000176383.9	transcript	ENST00000324189.5	protein_coding		2126		chr12	TogoVar
B3GNT4_chr12_122198709_122213952	122213602	CCTCCTTT others(16): Show CCTCCTTTTCTCCTTCTAGATATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	412	0.0024	-23	c.62 others(34): Show c.6215_*6237delCTCCTTTTCTCCTTCTAGATATT	B3GNT4	ENSG00000176383.9	transcript	ENST00000324189.5	protein_coding		4651		chr12	TogoVar
B4GALNT2_chr17_49127769_49181840	49177310	GGAAAACA others(16): Show GGAAAACAACATTGCATTGTCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	380	0.0026	-23	c.75 others(34): Show c.7583_*7605delGAAAACAACATTGCATTGTCCCA	B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding		471		chr17	TogoVar
BAG4_chr8_38171855_38218301	38201866	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01255.hp2 HG01069.hp1 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0270 a0001c0001t0001g0206 a0001c0001t0001g0270	2	306	0.0065	-23	c.379 others(40): Show c.379-5644_379-5622delATATATATATATATTTTTTTTTT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAHCC1_chr17_81390457_81471331	81432888	CCCCCCAT others(16): Show CCCCCCATCCCCAGGCCCACCCTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0006 a0009c0013t0006	a0009c0013t0006g0072 a0009c0013t0006g0072	1	332	0.0030	-23	c.359 others(40): Show c.359-5476_359-5454delATCCCCAGGCCCACCCTTCCCCC	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81446526	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0117 a0001c0009t0004g0117	1	332	0.0030	-23	c.316 others(40): Show c.3164-494_3164-472delTTTTTTTTTTTTTTTTTTTTTTT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98353482	CATTATAA others(16): Show CATTATAAATACACATATATTTAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG03130.hp2 others(3): Show HG02258.hp2 HG02559.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0004 a0001c0005t0005g0005 a0001c0005t0005g0006 others(3): Show a0001c0005t0005g0004 a0001c0005t0005g0005 a0001c0005t0005g0006 a0001c0005t0005g0007 a0001c0005t0005g0008 a0001c0005t0005g0009	6	298	0.0201	-23	c.214 others(40): Show c.214+1537_214+1559delATAAATATATGTGTATTTATAAT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	3/13			chr7	TogoVar
BARHL2_chr1_90706539_90722302	90721527	AATTTTGA others(16): Show AATTTTGAACGTTTCTAAGGGTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	446	0.0022	-23	c.-43 others(34): Show c.-4355_-4333delGGACCCTTAGAAACGTTCAAAAT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		4226		chr1	TogoVar
BAZ2B_chr2_159313979_159621548	159404413	TGAAAGCA others(16): Show TGAAAGCATTAAGAAGCAATGAAG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	216	0.0046	-23	c.283 others(40): Show c.2832+413_2832+435delCTTCATTGCTTCTTAATGCTTTC	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	16/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159590187	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0132 a0001c0001t0009g0132	1	216	0.0046	-23	c.-46 others(42): Show c.-46+26032_-46+26054delTTTTTTTTTTTTTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BBC3_chr19_47215824_47236199	47222429	GAAAACAA others(16): Show GAAAACAAGGTGGTCTCTAGGACC	G G	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	412	0.0024	-23	c.466 others(38): Show c.466-534_466-512delGGTCCTAGAGACCACCTTGTTTT	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding	3/3			chr19	TogoVar
BBS5_chr2_169474494_169511655	169489851	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(128): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02486.hp1 HG02698.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02976.hp1 HG03041.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0048	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0011g0008 a0001c0001t0011g0094 a0001c0001t0011g0104 a0001c0001t0014g0001 a0001c0001t0014g0151 a0001c0001t0014g0164 a0001c0001t0014g0202 a0001c0001t0015g0001 a0001c0001t0015g0005 a0001c0001t0015g0017 a0001c0001t0016g0001 a0001c0001t0016g0162 a0001c0001t0016g0186 a0001c0001t0016g0188 a0001c0001t0018g0001 a0001c0001t0018g0195 a0001c0001t0039g0206 a0001c0001t0040g0187 a0001c0001t0042g0166 a0001c0001t0048g0001	131	398	0.3292	-23	c.386 others(40): Show c.386+1756_386+1778delTTTTTTTTTTTTTTTTTTTTTTT	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BCAS4_chr20_50790061_50882177	50796465	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	270	0.0037	-23	c.90+ others(38): Show c.90+1294_90+1316delATATATATATATATATATATATT	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCL11B_chr14_99164287_99277197	99243918	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(270): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0002c0009 a0003c0007 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(83): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0069 a0001c0001t0070 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0080 a0001c0001t0086 a0001c0001t0087 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0018 a0001c0002t0019 a0001c0002t0028 a0001c0002t0033 a0001c0002t0044 a0001c0002t0046 a0001c0002t0047 a0001c0002t0064 a0001c0002t0065 a0001c0002t0066 a0001c0002t0067 a0001c0002t0068 a0001c0002t0079 a0001c0002t0082 a0001c0002t0088 a0001c0002t0089 a0001c0003t0003 a0001c0003t0004 a0001c0003t0010 a0001c0003t0055 a0001c0004t0001 a0001c0005t0009 a0001c0006t0025 a0001c0008t0045 a0002c0009t0003 a0003c0007t0007 a0004c0010t0007	a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 others(269): Show a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0261 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0003g0233 a0001c0001t0003g0248 a0001c0001t0003g0267 a0001c0001t0003g0275 a0001c0001t0003g0285 a0001c0001t0004g0110 a0001c0001t0005g0017 a0001c0001t0005g0024 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0059 a0001c0001t0005g0071 a0001c0001t0005g0074 a0001c0001t0005g0076 a0001c0001t0005g0078 a0001c0001t0005g0098 a0001c0001t0005g0101 a0001c0001t0005g0104 a0001c0001t0005g0113 a0001c0001t0005g0116 a0001c0001t0005g0129 a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0319 a0001c0001t0006g0321 a0001c0001t0006g0326 a0001c0001t0006g0335 a0001c0001t0006g0337 a0001c0001t0007g0155 a0001c0001t0007g0169 a0001c0001t0007g0197 a0001c0001t0007g0201 a0001c0001t0007g0204 a0001c0001t0007g0239 a0001c0001t0007g0258 a0001c0001t0008g0084 a0001c0001t0008g0087 a0001c0001t0008g0090 a0001c0001t0008g0119 a0001c0001t0008g0131 a0001c0001t0009g0043 a0001c0001t0009g0063 a0001c0001t0009g0064 a0001c0001t0009g0080 a0001c0001t0009g0123 a0001c0001t0009g0128 a0001c0001t0011g0294 a0001c0001t0011g0295 a0001c0001t0011g0296 a0001c0001t0011g0299 a0001c0001t0011g0301 a0001c0001t0012g0142 a0001c0001t0012g0143 a0001c0001t0012g0147 a0001c0001t0012g0148 a0001c0001t0012g0149 a0001c0001t0013g0329 a0001c0001t0013g0331 a0001c0001t0014g0176 a0001c0001t0014g0182 a0001c0001t0014g0190 a0001c0001t0014g0260 a0001c0001t0015g0079 a0001c0001t0015g0083 a0001c0001t0015g0099 a0001c0001t0016g0030 a0001c0001t0016g0073 a0001c0001t0016g0089 a0001c0001t0020g0021 a0001c0001t0020g0086 a0001c0001t0022g0144 a0001c0001t0022g0146 a0001c0001t0023g0216 a0001c0001t0023g0280 a0001c0001t0026g0251 a0001c0001t0026g0277 a0001c0001t0027g0165 a0001c0001t0029g0314 a0001c0001t0029g0322 a0001c0001t0030g0003 a0001c0001t0031g0004 a0001c0001t0032g0009 a0001c0001t0034g0005 a0001c0001t0035g0008 a0001c0001t0036g0007 a0001c0001t0038g0095 a0001c0001t0039g0038 a0001c0001t0041g0105 a0001c0001t0042g0072 a0001c0001t0043g0120 a0001c0001t0050g0108 a0001c0001t0051g0082 a0001c0001t0052g0124 a0001c0001t0053g0137 a0001c0001t0056g0136 a0001c0001t0058g0145 a0001c0001t0059g0150 a0001c0001t0060g0161 a0001c0001t0061g0196 a0001c0001t0062g0273 a0001c0001t0063g0153 a0001c0001t0069g0221 a0001c0001t0070g0171 a0001c0001t0074g0259 a0001c0001t0075g0288 a0001c0001t0076g0289 a0001c0001t0077g0290 a0001c0001t0080g0303 a0001c0001t0086g0342 a0001c0001t0087g0343 a0001c0001t0090g0346 a0001c0001t0091g0347 a0001c0001t0092g0348 a0001c0002t0003g0152 a0001c0002t0003g0154 a0001c0002t0003g0160 a0001c0002t0003g0168 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0181 a0001c0002t0003g0183 a0001c0002t0003g0194 a0001c0002t0003g0202 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0209 a0001c0002t0003g0215 a0001c0002t0003g0217 a0001c0002t0003g0220 a0001c0002t0003g0227 a0001c0002t0003g0249 a0001c0002t0003g0250 a0001c0002t0003g0254 a0001c0002t0003g0262 a0001c0002t0003g0274 a0001c0002t0003g0286 a0001c0002t0004g0018 a0001c0002t0004g0023 a0001c0002t0004g0031 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0036 a0001c0002t0004g0041 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0070 a0001c0002t0004g0075 a0001c0002t0004g0077 a0001c0002t0004g0088 a0001c0002t0004g0091 a0001c0002t0004g0117 a0001c0002t0004g0121 a0001c0002t0004g0126 a0001c0002t0004g0133 a0001c0002t0005g0103 a0001c0002t0010g0318 a0001c0002t0010g0323 a0001c0002t0010g0325 a0001c0002t0010g0333 a0001c0002t0018g0011 a0001c0002t0018g0012 a0001c0002t0019g0062 a0001c0002t0028g0297 a0001c0002t0033g0006 a0001c0002t0044g0106 a0001c0002t0046g0014 a0001c0002t0047g0015 a0001c0002t0064g0269 a0001c0002t0065g0245 a0001c0002t0066g0247 a0001c0002t0067g0177 a0001c0002t0068g0170 a0001c0002t0079g0292 a0001c0002t0082g0336 a0001c0002t0088g0344 a0001c0002t0089g0345 a0001c0003t0003g0270 a0001c0003t0004g0109 a0001c0003t0010g0309 a0001c0003t0010g0313 a0001c0003t0055g0135 a0001c0004t0001g0001 a0001c0004t0001g0179 a0001c0005t0009g0013 a0001c0005t0009g0029 a0001c0006t0025g0191 a0001c0006t0025g0192 a0001c0008t0045g0085 a0002c0009t0003g0195 a0003c0007t0007g0283 a0004c0010t0007g0287	273	350	0.7800	-23	c.428 others(42): Show c.428-12384_428-12362delTTTTTTTTTTTTTTTTTTTTTTT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	2/3			chr14	TogoVar
BCL2L13_chr22_17633757_17735855	17715148	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01884.hp2 HG00408.hp1 HG01884.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0005 a0003c0004t0031 a0001c0001t0005 a0003c0004t0031	a0001c0001t0005g0241 a0003c0004t0031g0254 a0001c0001t0005g0241 a0003c0004t0031g0254	2	306	0.0065	-23	c.601 others(42): Show c.601-11527_601-11505delATATATATATATATATATATATT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715150	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03098.hp1 NA18943.hp2 others(5): Show HG01109.hp2 HG03098.hp1 NA18943.hp2 NA18963.hp2 NA19043.hp1 NA19057.hp2 NA19065.hp1 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0003c0004t0015	a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0003g0035 others(5): Show a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0003g0035 a0001c0001t0003g0049 a0001c0001t0003g0055 a0001c0001t0008g0232 a0001c0001t0013g0184 a0003c0004t0015g0253	8	306	0.0261	-23	c.601 others(42): Show c.601-11525_601-11503delATATATATATATATATATATTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715152	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03209.hp2 HG02886.hp1 HG03209.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0003 a0004c0006t0049 a0001c0001t0003 a0004c0006t0049	a0001c0001t0003g0002 a0004c0006t0049g0091 a0001c0001t0003g0002 a0004c0006t0049g0091	2	306	0.0065	-23	c.601 others(42): Show c.601-11523_601-11501delATATATATATATATATATTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715154	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02809.hp1 HG02965.hp1 others(2): Show HG00099.hp2 HG02809.hp1 HG02965.hp1 NA18946.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0036 a0001c0002t0006 a0001c0001t0003 a0001c0001t0036 a0001c0002t0006	a0001c0001t0003g0025 a0001c0001t0003g0251 a0001c0001t0003g0252 others(2): Show a0001c0001t0003g0025 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0036g0094 a0001c0002t0006g0102	5	306	0.0163	-23	c.601 others(42): Show c.601-11521_601-11499delATATATATATATATATTTTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715156	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01516.hp2 HG01517.hp2 HG00738.hp1 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0025 a0001c0002t0006 a0001c0002t0025	a0001c0002t0006g0066 a0001c0002t0025g0074 a0001c0002t0025g0075 a0001c0002t0006g0066 a0001c0002t0025g0074 a0001c0002t0025g0075	3	306	0.0098	-23	c.601 others(42): Show c.601-11519_601-11497delATATATATATATATTTTTTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715158	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20805.hp1 HG02280.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0006 a0004c0006t0063 a0001c0002t0006 a0004c0006t0063	a0001c0002t0006g0067 a0004c0006t0063g0093 a0001c0002t0006g0067 a0004c0006t0063g0093	2	306	0.0065	-23	c.601 others(42): Show c.601-11517_601-11495delATATATATATATTTTTTTTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCLAF1_chr6_136251627_136294846	136280602	ACAAGAAA others(16): Show ACAAGAAAAAAAAAACTTGGGCAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp2 HG02622.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0032 a0001c0001t0027 a0001c0001t0032	a0001c0001t0027g0030 a0001c0001t0032g0114 a0001c0001t0027g0030 a0001c0001t0032g0114	2	310	0.0065	-23	c.-10 others(38): Show c.-10-749_-10-727delGTGCCCAAGTTTTTTTTTTCTTG	BCLAF1	ENSG00000029363.17	transcript	ENST00000531224.6	protein_coding	2/12			chr6	TogoVar
BCOR_chrX_40046251_40102958	40091877	TCCCCACC others(16): Show TCCCCACCCAGCTTTGGGCGAGGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02257.hp1 others(11): Show HG01243.hp1 HG01891.hp2 HG02257.hp1 HG02258.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03540.hp2 HG06807.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(11): Show a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0003g0123 a0001c0001t0003g0132	14	257	0.0545	-23	c.-41 others(40): Show c.-41+5315_-41+5337delGCCTCGCCCAAAGCTGGGTGGGG	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding	1/14			chrX	TogoVar
BDH1_chr3_197504783_197560968	197510661	TGTGTGTG others(16): Show TGTGTGTGTGTACATGTGTGTAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG01175.hp2 HG03041.hp1 others(3): Show HG00099.hp2 HG01175.hp2 HG03041.hp1 HG06807.hp2 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0052 a0001c0001t0069 a0001c0001t0139 others(3): Show a0001c0001t0052 a0001c0001t0069 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0002t0060	a0001c0001t0052g0014 a0001c0001t0069g0224 a0001c0001t0139g0170 others(3): Show a0001c0001t0052g0014 a0001c0001t0069g0224 a0001c0001t0139g0170 a0001c0001t0140g0186 a0001c0001t0141g0217 a0001c0002t0060g0037	6	319	0.0188	-23	c.12 others(34): Show c.1211_*1233delCTTACACACATGTACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1211		chr3	TogoVar
BDKRB2_chr14_96199839_96249164	96217658	GGCTGGGG others(16): Show GGCTGGGGGTCTATCCCAGACCTT	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	2	436	0.0046	-23	c.-40 others(42): Show c.-40+12701_-40+12723delCTGGGGGTCTATCCCAGACCTTG	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BEX2_chrX_103304346_103315990	103310249	GGTGGGGG others(16): Show GGTGGGGGTGGGGGATTGCTAAGT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	308	0.0033	-23	c.-6+ others(35): Show c.-6+86_-6+108delACTTAGCAATCCCCCACCCCCAC	BEX2	ENSG00000133134.12	transcript	ENST00000372677.8	protein_coding	2/2			chrX	TogoVar
BGN_chrX_153489980_153514546	153509611	GCCCTCAG others(16): Show GCCCTCAGAAGAGGGGCCCCGTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02129.hp1 HG02155.hp1 others(26): Show HG01884.hp2 HG02129.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02615.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp2 HG03486.hp1 HG03579.hp1 HG03704.hp1 HG04115.hp1 NA18945.hp1 NA18951.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18983.hp1 NA18984.hp1 NA19001.hp1 NA19009.hp1 NA19011.hp2 NA19062.hp1 NA19065.hp1 NA19082.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0007 a0004c0011	a0001c0001t0001 a0001c0001t0008 a0001c0002t0028 others(16): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0028 a0001c0002t0063 a0001c0003t0017 a0001c0003t0044 a0001c0003t0079 a0001c0003t0087 a0001c0003t0091 a0001c0004t0008 a0001c0004t0014 a0001c0004t0027 a0001c0004t0028 a0001c0004t0064 a0001c0004t0080 a0001c0004t0082 a0001c0004t0089 a0002c0007t0008 a0004c0011t0039	a0001c0001t0001g0129 a0001c0001t0008g0108 a0001c0002t0028g0119 others(24): Show a0001c0001t0001g0129 a0001c0001t0008g0108 a0001c0002t0028g0119 a0001c0002t0063g0204 a0001c0003t0017g0035 a0001c0003t0044g0156 a0001c0003t0079g0053 a0001c0003t0087g0076 a0001c0003t0091g0201 a0001c0004t0008g0019 a0001c0004t0008g0036 a0001c0004t0008g0071 a0001c0004t0008g0125 a0001c0004t0014g0015 a0001c0004t0014g0027 a0001c0004t0014g0078 a0001c0004t0014g0094 a0001c0004t0014g0098 a0001c0004t0027g0154 a0001c0004t0027g0155 a0001c0004t0028g0036 a0001c0004t0064g0035 a0001c0004t0080g0015 a0001c0004t0082g0027 a0001c0004t0089g0048 a0002c0007t0008g0019 a0004c0011t0039g0049	29	321	0.0903	-23	c.11 others(34): Show c.1167_*1189delCCCTCAGAAGAGGGGCCCCGTCA	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding		66		chrX	TogoVar
BHLHE22_chr8_64575365_64588627	64587246	AAGGGATT others(16): Show AAGGGATTCGGGATCCGCATCCGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 NA18999.hp2 HG03704.hp1 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0001c0001t0001g0000 a0002c0002t0001g0000	2	432	0.0046	-23	c.53 others(34): Show c.5311_*5333delAGGGATTCGGGATCCGCATCCGG	BHLHE22	ENSG00000180828.3	transcript	ENST00000321870.3	protein_coding		3620		chr8	TogoVar
BHMT_chr5_79106809_79137288	79137048	ATATGAAT others(16): Show ATATGAATATACATATATGAATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	432	0.0023	-23	c.59 others(34): Show c.5933_*5955delTATGAATATACATATATGAATAT	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		4761		chr5	TogoVar
BICRAL_chr6_42777052_42873556	42793122	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	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	-23	c.-10 others(44): Show c.-102+11038_-102+11060delTTTTTTTTTTTTTTTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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