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
BEX5_chrX_102148712_102160977	102153606	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	324	0.0031	-26	c.29 others(35): Show c.298_*323delATATATATATATATATATATATATAT	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		105		chrX	TogoVar
BFSP2_chr3_133395056_133480208	133446570	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	276	0.0036	-26	c.490 others(41): Show c.490-702_490-677delTATATATATATATATATATATATATA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133468169	TCCCTGCC others(19): Show TCCCTGCCTCCAAAGAGTTAATGTGGC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	276	0.0036	-26	c.102 others(45): Show c.1023+1211_1023+1236delCCCTGCCTCCAAAGAGTTAATGTGGC	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	5/6			chr3	TogoVar
BHLHA9_chr17_1265444_1276815	1275540	GTGGGGGT others(19): Show GTGGGGGTGATTGTGAGGGTGTGTGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	442	0.0023	-26	c.42 others(37): Show c.4270_*4295delTGGGGGTGATTGTGAGGGTGTGTGAA	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		3726		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1275853	TGTGTGTG others(19): Show TGTGTGTGTGAGAGAGAGTGTGTGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	442	0.0023	-26	c.45 others(37): Show c.4583_*4608delGTGTGTGTGAGAGAGAGTGTGTGAGA	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		4039		chr17	TogoVar
BICC1_chr10_58507872_58836435	58732371	GTGTGTAT others(19): Show GTGTGTATGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp2 HG02280.hp1 others(1): Show HG01255.hp2 HG01358.hp2 HG02280.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0011 a0001c0001 a0002c0002 a0007c0011	a0001c0001t0003 a0002c0002t0008 a0002c0002t0013 others(1): Show a0001c0001t0003 a0002c0002t0008 a0002c0002t0013 a0007c0011t0005	a0001c0001t0003g0019 a0002c0002t0008g0060 a0002c0002t0013g0129 others(1): Show a0001c0001t0003g0019 a0002c0002t0008g0060 a0002c0002t0013g0129 a0007c0011t0005g0040	4	132	0.0303	-26	c.307 others(45): Show c.307+30230_307+30255delGTGTATGTATATATATATATATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32116458	GTCTGTCT others(19): Show GTCTGTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	290	0.0035	-26	c.213 others(43): Show c.213+8918_213+8943delGTCTCTCTCTCTCTCTCTCTCTCTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32116466	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0287 a0001c0001t0004g0287	1	290	0.0035	-26	c.213 others(43): Show c.213+8942_213+8967delCTCTCTTTCTCTCTCTCTCTCTCTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32153759	ATGTGTGT others(19): Show ATGTGTGTGTACATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02818.hp1 HG02723.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0057 a0001c0001t0034 a0001c0001t0057	a0001c0001t0034g0128 a0001c0001t0057g0245 a0001c0001t0034g0128 a0001c0001t0057g0245	2	290	0.0069	-26	c.213 others(45): Show c.213+46225_213+46250delACATATATATATATGTGTGTGTGTGT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32253954	TGTATCCC others(19): Show TGTATCCCACCTGTCATAATCACTGCC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp2 HG02922.hp2 others(1): Show HG00741.hp2 HG01884.hp2 HG02922.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 others(1): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017	a0001c0001t0006g0021 a0001c0001t0010g0158 a0001c0001t0012g0237 others(1): Show a0001c0001t0006g0021 a0001c0001t0010g0158 a0001c0001t0012g0237 a0001c0001t0017g0094	4	290	0.0138	-26	c.426 others(45): Show c.426+37508_426+37533delTCATAATCACTGCCGTATCCCACCTG	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32254035	TATCCCAC others(19): Show TATCCCACCTGCCGTATTCACTGCCGA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp2 HG01081.hp1 others(61): Show HG00558.hp1 HG00642.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01346.hp2 HG01884.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02145.hp2 HG02155.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03831.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18966.hp1 NA18977.hp2 NA18982.hp2 NA19002.hp1 NA19057.hp1 NA19080.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0032 a0001c0001t0036 a0001c0001t0038 a0001c0001t0043 a0001c0001t0055 a0001c0001t0058 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0003t0002 a0001c0005t0009 a0001c0007t0050 a0001c0009t0001	a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0193 others(61): Show a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0193 a0001c0001t0001g0202 a0001c0001t0001g0258 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0003g0147 a0001c0001t0003g0187 a0001c0001t0003g0205 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0239 a0001c0001t0004g0019 a0001c0001t0004g0032 a0001c0001t0004g0114 a0001c0001t0004g0130 a0001c0001t0004g0136 a0001c0001t0004g0166 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0105 a0001c0001t0006g0162 a0001c0001t0008g0119 a0001c0001t0008g0123 a0001c0001t0008g0144 a0001c0001t0009g0081 a0001c0001t0009g0084 a0001c0001t0009g0183 a0001c0001t0010g0143 a0001c0001t0010g0161 a0001c0001t0011g0044 a0001c0001t0011g0057 a0001c0001t0011g0235 a0001c0001t0012g0211 a0001c0001t0012g0265 a0001c0001t0013g0279 a0001c0001t0015g0020 a0001c0001t0017g0092 a0001c0001t0018g0219 a0001c0001t0018g0227 a0001c0001t0018g0268 a0001c0001t0032g0033 a0001c0001t0036g0090 a0001c0001t0038g0098 a0001c0001t0043g0236 a0001c0001t0055g0039 a0001c0001t0058g0221 a0001c0002t0002g0076 a0001c0002t0005g0104 a0001c0002t0005g0112 a0001c0002t0005g0116 a0001c0002t0005g0118 a0001c0002t0005g0135 a0001c0002t0005g0290 a0001c0002t0007g0022 a0001c0002t0007g0028 a0001c0002t0007g0150 a0001c0003t0002g0240 a0001c0005t0009g0270 a0001c0007t0050g0186 a0001c0009t0001g0056	64	290	0.2207	-26	c.426 others(45): Show c.426+37589_426+37614delGTATTCACTGCCGAATCCCACCTGCC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32254096	TCATATTC others(19): Show TCATATTCACTGCCATATCCCACCTGC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0283	1	290	0.0035	-26	c.426 others(45): Show c.426+37651_426+37676delATATCCCACCTGCCATATTCACTGCC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346590	ATATATAT others(19): Show ATATATATATATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00558.hp2 others(30): Show HG00280.hp1 HG00408.hp1 HG00558.hp2 HG00741.hp2 HG01069.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG02071.hp1 HG02129.hp2 HG02145.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03491.hp1 HG03516.hp2 NA18522.hp1 NA18954.hp1 NA18966.hp1 NA18971.hp2 NA19057.hp1 NA19063.hp1 NA19090.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0002t0002 a0001c0002t0005 a0001c0005t0009	a0001c0001t0001g0276 a0001c0001t0006g0021 a0001c0001t0006g0023 others(30): Show a0001c0001t0001g0276 a0001c0001t0006g0021 a0001c0001t0006g0023 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0105 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0008g0137 a0001c0001t0009g0068 a0001c0001t0009g0070 a0001c0001t0009g0081 a0001c0001t0009g0084 a0001c0001t0009g0086 a0001c0001t0009g0159 a0001c0001t0011g0080 a0001c0001t0017g0092 a0001c0001t0017g0093 a0001c0001t0017g0094 a0001c0002t0002g0243 a0001c0002t0005g0008 a0001c0002t0005g0126 a0001c0002t0005g0127 a0001c0002t0005g0141 a0001c0005t0009g0270	33	290	0.1138	-26	c.276 others(45): Show c.2764+7630_2764+7655delTATACGTGTATATATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42779223	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02922.hp2 HG03209.hp2 others(1): Show HG02258.hp2 HG02922.hp2 HG03209.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0004	4	270	0.0148	-26	c.-29 others(37): Show c.-2979_-2954delACACACACACACACACACACACACAC	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding		2828		chr6	TogoVar
BICRAL_chr6_42777052_42873556	42797141	AAAGATAC others(19): Show AAAGATACATAAGCAGAACTTATGTAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00621.hp2 others(23): Show HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG02015.hp1 HG02074.hp1 HG02132.hp2 HG02523.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18951.hp2 NA18952.hp2 NA18962.hp1 NA18974.hp2 NA18979.hp1 NA18982.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19056.hp2 NA19066.hp1 NA19080.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 others(23): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0214 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0270 a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0002t0003g0059	26	270	0.0963	-26	c.-10 others(47): Show c.-101-13152_-101-13127delCAGAACTTATGTATAAGATACATA AG	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42845195	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	270	0.0037	-26	c.184 others(45): Show c.1840-6869_1840-6844delTTTTTTTTTTTTTTTTTTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BID_chr22_17729138_17779469	17756462	TCTTTCTT others(19): Show TCTTTCTTTCTTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03195.hp1 others(1): Show HG02896.hp1 HG02897.hp1 HG03195.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0353 a0003c0004t0001g0166 a0003c0004t0001g0167 others(1): Show a0001c0001t0001g0353 a0003c0004t0001g0166 a0003c0004t0001g0167 a0003c0004t0001g0169	4	362	0.0111	-26	c.-58 others(43): Show c.-58-6314_-58-6289delGAAAGAAAGAAAAGAAAGAAAGAAAG	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BIN2_chr12_51276038_51329174	51295577	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG00741.hp2 others(13): Show HG00423.hp2 HG00609.hp2 HG00741.hp2 HG02647.hp1 HG03491.hp1 HG03492.hp1 HG03710.hp2 NA18961.hp2 NA18973.hp1 NA19002.hp1 NA19054.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19088.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0018 a0001c0001t0001g0349 a0001c0004t0001g0016 others(12): Show a0001c0001t0001g0018 a0001c0001t0001g0349 a0001c0004t0001g0016 a0001c0004t0001g0261 a0001c0004t0001g0290 a0001c0004t0001g0291 a0001c0004t0001g0292 a0001c0004t0001g0306 a0001c0004t0001g0307 a0001c0004t0001g0310 a0001c0004t0001g0312 a0001c0004t0001g0315 a0001c0004t0001g0320 a0001c0004t0001g0328 a0001c0004t0001g0360	16	400	0.0400	-26	c.761 others(41): Show c.761+193_761+218delATATATATATATATATATATATATAT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar
BIRC2_chr11_102342214_102383670	102342344	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	344	0.0029	-26	c.-62 others(37): Show c.-6289_-6264delTATATATATATATATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4869		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342344	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	384	0.0026	-26	c.52 others(37): Show c.5243_*5268delTATATATATATATATATATATATATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2942		chr11	TogoVar
BLOC1S5_chr6_8008567_8069389	8046898	CCCAATAG others(19): Show CCCAATAGCTGGGAGGACAGGTGCACA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03579.hp2 HG02895.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0191 a0001c0001t0007g0194 a0001c0001t0007g0191 a0001c0001t0007g0194	2	364	0.0055	-26	c.196 others(43): Show c.196-5656_196-5631delTGTGCACCTGTCCTCCCAGCTATTGG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BMAL1_chr11_13272790_13392266	13284186	ATATATAT others(19): Show ATATATATGTGTGTATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02056.hp1 HG02132.hp1 others(6): Show HG00621.hp2 HG02056.hp1 HG02132.hp1 HG03492.hp2 HG03688.hp1 NA18948.hp1 NA18971.hp1 NA18973.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0127 a0001c0001t0001g0154 a0001c0001t0001g0155 others(6): Show a0001c0001t0001g0127 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0006t0001g0175	9	314	0.0287	-26	c.-26 others(45): Show c.-263+6271_-263+6296delGTGTGTATATATATATGTGTATATAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13284208	ATGTGTAT others(19): Show ATGTGTATATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG06807.hp2 HG03195.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0123 a0001c0001t0001g0124	2	314	0.0064	-26	c.-26 others(45): Show c.-263+6287_-263+6312delGTGTATATATATATATATGTGTGTGT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13363127	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02280.hp2 others(3): Show HG01884.hp2 HG02145.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0153 a0001c0001t0001g0289 others(3): Show a0001c0001t0001g0118 a0001c0001t0001g0153 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0295 a0001c0001t0001g0297	6	314	0.0191	-26	c.460 others(43): Show c.460-2358_460-2333delATATATATATATATATATATATATAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL2_chr12_27327836_27430286	27361296	GACCTTTG others(19): Show GACCTTTGAAATATTGCAAGATTGATT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0237 a0001c0001t0012g0237	1	310	0.0032	-26	c.32- others(41): Show c.32-6964_32-6939delCCTTTGAAATATTGCAAGATTGATTA	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMP2K_chr4_78771350_78921365	78776076	GGGCGGCG others(19): Show GGGCGGCGCGGGTTCGGCCGGGGCGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0090 a0001c0001t0014g0090	1	204	0.0049	-26	c.-46 others(35): Show c.-467_-442delGGCGGCGCGGGTTCGGCCGGGGCGGC	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding		273		chr4	TogoVar
BMP6_chr6_7721099_7886728	7800079	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	308	0.0033	-26	c.665 others(45): Show c.665-45043_665-45018delTGTGTGTGTGTGTGTGTGTGTGTGTG	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP7_chr20_57163753_57271641	57209249	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	272	0.0037	-26	c.612 others(43): Show c.612-6652_612-6627delTATATATATATATATATATATATATA	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6			chr20	TogoVar
BMPER_chr7_33900539_34161427	33913430	TGTACGGG others(19): Show TGTACGGGATATACAGAGTGTGAAGAG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01496.hp1 HG02698.hp1 others(3): Show HG00741.hp2 HG01496.hp1 HG02698.hp1 HG03017.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0018	a0001c0001t0001 a0001c0001t0017 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0017 a0001c0003t0001 a0001c0003t0016 a0001c0004t0006 a0001c0018t0001	a0001c0001t0001g0138 a0001c0001t0017g0101 a0001c0003t0001g0005 others(3): Show a0001c0001t0001g0138 a0001c0001t0017g0101 a0001c0003t0001g0005 a0001c0003t0016g0102 a0001c0004t0006g0006 a0001c0018t0001g0089	6	232	0.0259	-26	c.219 others(43): Show c.219+6529_219+6554delTACGGGATATACAGAGTGTGAAGAGG	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	33932934	TCCGCCCT others(19): Show TCCGCCCTACGCTCATGGGAGAGCTCA	T T	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0002g0196 a0001c0003t0002g0197	2	232	0.0086	-26	c.220 others(43): Show c.220-4354_220-4329delCCGCCCTACGCTCATGGGAGAGCTCA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	2/14			chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86906297	ATTTAGAA others(19): Show ATTTAGAAGCGTGTGTGTGTGTTTCTT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0010 a0004c0007t0010	a0004c0007t0010g0016 a0004c0007t0010g0016	1	278	0.0036	-26	c.531 others(43): Show c.531-5939_531-5914delAGAAGCGTGTGTGTGTGTTTCTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94761415	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02809.hp2 NA18522.hp2 HG01243.hp2 HG02809.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0011 a0001c0002t0021 a0001c0001t0005 a0001c0001t0011 a0001c0002t0021	a0001c0001t0005g0013 a0001c0001t0011g0012 a0001c0002t0021g0014 a0001c0001t0005g0013 a0001c0001t0011g0012 a0001c0002t0021g0014	3	226	0.0133	-26	c.-18 others(45): Show c.-183+3369_-183+3394delGTGTGTGTGTGTGTGTGTGTGTGTGT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMS1_chr10_42777795_42839937	42779045	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00597.hp1 others(59): Show HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01099.hp2 HG01123.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01952.hp1 HG01975.hp2 HG02056.hp1 HG02074.hp2 HG02148.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02698.hp1 HG03017.hp1 HG03688.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18950.hp2 NA18953.hp2 NA18959.hp1 NA18965.hp1 NA18971.hp2 NA18979.hp2 NA18980.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp2 NA19075.hp2 NA19082.hp1 NA19090.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0002 a0019 a0025 others(1): Show a0002 a0019 a0025 a0026	a0002c0001 a0002c0028 a0019c0033 others(2): Show a0002c0001 a0002c0028 a0019c0033 a0025c0036 a0026c0035	a0002c0001t0001 a0002c0001t0016 a0002c0001t0022 others(4): Show a0002c0001t0001 a0002c0001t0016 a0002c0001t0022 a0002c0028t0001 a0019c0033t0001 a0025c0036t0001 a0026c0035t0001	a0002c0001t0001g0004 a0002c0001t0001g0005 a0002c0001t0001g0009 others(40): Show a0002c0001t0001g0004 a0002c0001t0001g0005 a0002c0001t0001g0009 a0002c0001t0001g0013 a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0030 a0002c0001t0001g0192 a0002c0001t0001g0194 a0002c0001t0001g0219 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0248 a0002c0001t0001g0273 a0002c0001t0016g0005 a0002c0001t0016g0009 a0002c0001t0022g0009 a0002c0028t0001g0234 a0019c0033t0001g0249 a0025c0036t0001g0028 a0026c0035t0001g0244	62	388	0.1598	-26	c.-38 others(37): Show c.-3818_-3793delAAAAAAAAAAAAAAAAAAAAAAAAAA	BMS1	ENSG00000165733.8	transcript	ENST00000374518.6	protein_coding		3749		chr10	TogoVar
BMX_chrX_15495807_15561519	15498551	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCTCTCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00609.hp1 others(58): Show HG00280.hp1 HG00323.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01168.hp1 HG01243.hp1 HG01256.hp1 HG01496.hp2 HG01943.hp1 HG01975.hp2 HG02015.hp1 HG02074.hp1 HG02083.hp1 HG02698.hp1 HG02723.hp1 HG03017.hp1 HG03486.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18953.hp1 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18977.hp1 NA18986.hp1 NA18990.hp1 NA19009.hp1 NA19056.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp1 NA19079.hp1 NA19083.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0001 a0001c0005t0001 a0003c0003t0001 a0001c0001t0001 a0001c0005t0001 a0003c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(54): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0167 a0001c0005t0001g0015 a0003c0003t0001g0124	61	216	0.2824	-26	c.-23 others(37): Show c.-2398_-2373delCTCTCTCTCTCTCTCTCTCTCTCTCC	BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding		2255		chrX	TogoVar
BNC2_chr9_16404503_16875670	16412720	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00621.hp1 others(28): Show HG00438.hp1 HG00558.hp2 HG00621.hp1 HG01243.hp2 HG01516.hp1 HG01891.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02258.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG03098.hp1 HG03579.hp1 HG04199.hp1 HG06807.hp2 NA18962.hp2 NA18963.hp2 NA18968.hp2 NA18983.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19011.hp2 NA19060.hp2 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0003c0022 a0005c0006	a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 others(18): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0030 a0001c0001t0031 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0101 a0001c0001t0108 a0001c0001t0109 a0001c0002t0006 a0001c0002t0027 a0001c0002t0067 a0001c0005t0030 a0003c0022t0027 a0005c0006t0026	a0001c0001t0007g0065 a0001c0001t0007g0085 a0001c0001t0007g0158 others(28): Show a0001c0001t0007g0065 a0001c0001t0007g0085 a0001c0001t0007g0158 a0001c0001t0010g0111 a0001c0001t0010g0146 a0001c0001t0010g0166 a0001c0001t0011g0039 a0001c0001t0011g0106 a0001c0001t0011g0107 a0001c0001t0030g0105 a0001c0001t0031g0129 a0001c0001t0031g0159 a0001c0001t0064g0012 a0001c0001t0065g0104 a0001c0001t0066g0136 a0001c0001t0095g0050 a0001c0001t0096g0055 a0001c0001t0097g0080 a0001c0001t0098g0156 a0001c0001t0101g0040 a0001c0001t0108g0126 a0001c0001t0109g0023 a0001c0002t0006g0025 a0001c0002t0006g0070 a0001c0002t0006g0171 a0001c0002t0027g0013 a0001c0002t0067g0138 a0001c0005t0030g0051 a0003c0022t0027g0073 a0005c0006t0026g0047 a0005c0006t0026g0049	31	176	0.1761	-26	c.62 others(37): Show c.6243_*6268delTCTCTCTCTCTCTCTCTCTCTCTCTC	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	7/7	6243		chr9	TogoVar
BNIP3_chr10_131962684_131986923	131979983	CAACCCCG others(19): Show CAACCCCGCCCACGCCGAGCCCACAGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19030.hp2 HG02258.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	2	438	0.0046	-26	c.46+ others(41): Show c.46+1752_46+1777delACTGTGGGCTCGGCGTGGGCGGGGTT	BNIP3	ENSG00000176171.12	transcript	ENST00000368636.9	protein_coding	1/5			chr10	TogoVar
BNIP5_chr6_36310761_36341888	36324575	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp1 HG01070.hp2 others(4): Show HG00558.hp2 HG00741.hp1 HG01070.hp2 HG01109.hp1 HG02717.hp1 HG03453.hp2 HG03831.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0010 a0001c0001 a0002c0002 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0006c0010t0001	a0001c0001t0001g0202 a0001c0001t0001g0282 a0001c0001t0002g0059 others(4): Show a0001c0001t0001g0202 a0001c0001t0001g0282 a0001c0001t0002g0059 a0002c0002t0001g0189 a0002c0002t0001g0273 a0002c0002t0001g0281 a0006c0010t0001g0261	7	424	0.0165	-26	c.116 others(43): Show c.1169-411_1169-386delTATATATATATATATATATATATATA	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BOLL_chr2_197721890_197790319	197784391	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG01069.hp1 others(40): Show HG00323.hp1 HG00423.hp1 HG01069.hp1 HG01070.hp2 HG01106.hp2 HG01192.hp1 HG01358.hp1 HG01515.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG03654.hp2 HG04115.hp1 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18974.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19065.hp2 NA19067.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0231 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0013g0236	43	328	0.1311	-26	c.-16 others(41): Show c.-16+639_-16+664delATATATATATATATATATATATATAT	BOLL	ENSG00000152430.19	transcript	ENST00000392296.9	protein_coding	1/10			chr2	TogoVar
BORCS8_chr19_19171906_19197152	19177693	GAAGAGAA others(19): Show GAAGAGAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03195.hp2 HG01891.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	2	428	0.0047	-26	c.43 others(41): Show c.43-259_*43-234delTCTTTTCTTTTCTTTTCTTTTCTCTT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPIFC_chr22_32408845_32469446	32424602	TCCTCCTC others(19): Show TCCTCCTCCTCCTCCTCCTCCTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	422	0.0024	-26	c.121 others(45): Show c.1218-5224_1218-5199delGGAGGAGGAGGAGGAGGAGGAGGAGG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32432791	AATCCCTG others(19): Show AATCCCTGTGAGGCAGATTCTATCAGC	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	422	0.0024	-26	c.979 others(41): Show c.979-274_979-249delGCTGATAGAATCTGCCTCACAGGGAT	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	11/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32467355	CCAGCTAC others(19): Show CCAGCTACTCAGGAGGCTGAGGCAGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0002 a0011c0013t0002	a0011c0013t0002g0300 a0011c0013t0002g0300	1	422	0.0024	-26	c.-30 others(37): Show c.-3096_-3071delTCCTGCCTCAGCCTCCTGAGTAGCTG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding		2910		chr22	TogoVar
BPTF_chr17_67820503_67989378	67895847	AGTACAGT others(19): Show AGTACAGTAGAGAGACTTTTACCCTGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp2 HG01175.hp1 HG00639.hp2 HG01074.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0029	3	274	0.0110	-26	c.254 others(45): Show c.2543+1688_2543+1713delGTAGAGAGACTTTTACCCTGTGTACA	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67953961	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0008 a0003c0030t0008	a0003c0030t0008g0097 a0003c0030t0008g0097	1	274	0.0037	-26	c.792 others(45): Show c.7927-5564_7927-5539delTTTTTTTTTTTTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAF_chr7_140714337_140929929	140884427	ATATGTGT others(19): Show ATATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0115 a0001c0001t0009g0115	1	190	0.0053	-26	c.139 others(45): Show c.139-34241_139-34216delCACACACACACACACACACACACATA	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140725665_140929929	140884427	ATATGTGT others(19): Show ATATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0119 a0001c0001t0032g0119	1	196	0.0051	-26	c.139 others(45): Show c.139-34241_139-34216delCACACACACACACACACACACACATA	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/17			chr7	TogoVar
BRD4_chr19_15230519_15337539	15298620	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02976.hp2 HG03098.hp1 HG01109.hp1 HG02976.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0018 a0001c0010 a0002c0018	a0001c0010t0018 a0001c0010t0051 a0002c0018t0018 a0001c0010t0018 a0001c0010t0051 a0002c0018t0018	a0001c0010t0018g0037 a0001c0010t0051g0102 a0002c0018t0018g0036 a0001c0010t0018g0037 a0001c0010t0051g0102 a0002c0018t0018g0036	3	208	0.0144	-26	c.-34 others(45): Show c.-34-25513_-34-25488delTTTTTTTTTTTTTTTTTTTTTTTTTT	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	1/19			chr19	TogoVar
BRD7_chr16_50310957_50373988	50341177	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02809.hp2 others(3): Show HG01891.hp1 HG02145.hp2 HG02809.hp2 HG02818.hp1 HG03471.hp2 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0023 a0002c0003t0008 a0002c0003t0023	a0002c0003t0008g0021 a0002c0003t0008g0274 a0002c0003t0008g0275 others(2): Show a0002c0003t0008g0021 a0002c0003t0008g0274 a0002c0003t0008g0275 a0002c0003t0008g0276 a0002c0003t0023g0272	6	402	0.0149	-26	c.592 others(43): Show c.592-1117_592-1092delGTGTGTGTGTGTGTGTGTGTGTGTGT	BRD7	ENSG00000166164.17	transcript	ENST00000394688.8	protein_coding	5/16			chr16	TogoVar
BRDT_chr1_91944401_92019421	91945279	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02630.hp2 NA19240.hp1 HG01891.hp2 HG02630.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014	3	318	0.0094	-26	c.-44 others(37): Show c.-4440_-4415delATATATATATATATATATATATATAT	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding		4121		chr1	TogoVar
BRDT_chr1_91944401_92019421	91995403	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(131): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18941.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18953.hp2 NA18960.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp2 NA19030.hp2 NA19056.hp2 NA19057.hp1 NA19059.hp2 NA19066.hp1 NA19067.hp1 NA19078.hp2 NA19080.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0008 a0009	a0001c0001 a0001c0006 a0001c0011 others(4): Show a0001c0001 a0001c0006 a0001c0011 a0006c0022 a0007c0013 a0008c0010 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0006t0001 a0001c0011t0001 a0006c0022t0001 a0007c0013t0002 a0008c0010t0001 a0009c0009t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(123): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0002g0203 a0001c0001t0002g0276 a0001c0001t0007g0248 a0001c0001t0009g0034 a0001c0006t0001g0304 a0001c0006t0001g0305 a0001c0006t0001g0306 a0001c0011t0001g0285 a0006c0022t0001g0141 a0007c0013t0002g0293 a0008c0010t0001g0001 a0009c0009t0002g0024	134	318	0.4214	-26	c.228 others(45): Show c.2287+1179_2287+1204delGTGTGTGTGTGTGTGTGTGTGTGTGT	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr1	TogoVar

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