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
BCO1_chr16_81233689_81296142	81235195	T T	TATAAATA others(27): Show TATAAATAAATAAATATATATATATATATAAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0115 a0001c0005t0001g0115	1	402	0.0025	34	c.-37 others(45): Show c.-3714_-3713insATAAATAAATAAATATATATATATATATAAATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3493		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235201	A A	AATAAATA others(27): Show AATAAATATATATATATATATATAAATAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG03209.hp2 HG00099.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0001 a0002c0004t0001 a0001c0005t0001 a0002c0004t0001	a0001c0005t0001g0132 a0002c0004t0001g0139 a0001c0005t0001g0132 a0002c0004t0001g0139	2	402	0.0050	34	c.-37 others(45): Show c.-3708_-3707insATAAATATATATATATATATATAAATAAATATAT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3487		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235201	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	402	0.0025	34	c.-37 others(45): Show c.-3708_-3707insATATATATATATATATATATATATATATATAAAT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3487		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235210	A A	ATATATAT others(27): Show ATATATATATATAAATAAATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	402	0.0025	34	c.-36 others(45): Show c.-3699_-3698insTATATATATATAAATAAATATATATATATATATT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3478		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235210	A A	ATATATAT others(27): Show ATATATATATATATAAATAAATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0120 a0001c0005t0001g0120	1	402	0.0025	34	c.-36 others(45): Show c.-3699_-3698insTATATATATATATAAATAAATATATATATATATT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3478		chr16	TogoVar
BCORL1_chrX_129977635_130063071	130061076	G G	GGGCAAAG others(27): Show GGGCAAAGGAAGTAGCCCTGCTGTTATACACTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0011 a0007c0012t0011	a0007c0012t0011g0043 a0007c0012t0011g0043	1	203	0.0049	34	c.49 others(45): Show c.4940_*4941insGGCAAAGGAAGTAGCCCTGCTGTTATACACTCCA	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding		3006		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046528	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 NA19010.hp2 HG00423.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0098 a0001c0002t0001g0197 a0001c0001t0001g0098 a0001c0002t0001g0197	2	257	0.0078	34	c.55 others(45): Show c.5580_*5581insCATATATATATATATATATATATATATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4722		chrX	TogoVar
BDH1_chr3_197504783_197560968	197549975	T T	TTATTTAT others(27): Show TTATTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0046 a0001c0001t0008g0046	1	319	0.0031	34	c.-43 others(51): Show c.-43-3490_-43-3489insTATATATATATATATATATATATATATA TAAATA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	2/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197549975	T T	TTATTTTT others(27): Show TTATTTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03139.hp2 NA21309.hp1 HG01934.hp1 HG03139.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0098 a0001c0001t0133 a0002c0005t0024 a0001c0001t0098 a0001c0001t0133 a0002c0005t0024	a0001c0001t0098g0035 a0001c0001t0133g0041 a0002c0005t0024g0042 a0001c0001t0098g0035 a0001c0001t0133g0041 a0002c0005t0024g0042	3	319	0.0094	34	c.-43 others(51): Show c.-43-3490_-43-3489insTATATATATATATATATATATATATATA AAAATA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	2/7			chr3	TogoVar
BDH2_chr4_103072592_103104834	103102328	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG03579.hp2 HG02615.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0036 a0001c0001t0006g0107 a0001c0001t0006g0036 a0001c0001t0006g0107	2	382	0.0052	34	c.-25 others(45): Show c.-2567_-2566insATATATATATATATATATATATATATATATATAT	BDH2	ENSG00000164039.15	transcript	ENST00000296424.9	protein_coding		2495		chr4	TogoVar
BEGAIN_chr14_100532147_100592417	100546339	A A	ACCCCGGC others(27): Show ACCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCCCG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG01081.hp2 others(16): Show HG00408.hp2 HG00423.hp1 HG01081.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp2 HG01934.hp2 HG02165.hp1 HG02257.hp1 HG02523.hp1 NA18950.hp2 NA18959.hp2 NA18995.hp2 NA19003.hp1 NA19010.hp2 NA19074.hp1 NA19080.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012 a0002c0007 a0003c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0004t0003 a0001c0012t0001 a0002c0007t0001 a0003c0010t0001	a0001c0001t0001g0244 a0001c0002t0001g0024 a0001c0002t0001g0111 others(16): Show a0001c0001t0001g0244 a0001c0002t0001g0024 a0001c0002t0001g0111 a0001c0002t0001g0117 a0001c0002t0001g0201 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0219 a0001c0002t0001g0236 a0001c0002t0001g0243 a0001c0002t0001g0249 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0005g0300 a0001c0004t0003g0031 a0001c0012t0001g0224 a0002c0007t0001g0025 a0002c0007t0001g0029 a0003c0010t0001g0259	19	326	0.0583	34	c.233 others(49): Show c.233+128_233+161dupCGGGGCGAGGGCCGGGGCGGGGCGAGGGCC GGGG	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	3/6			chr14	TogoVar
BHMT_chr5_79106809_79137288	79136281	A A	AGCCTGGA others(27): Show AGCCTGGACTACTCCCCAGCATTCAGGCACAAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	432	0.0023	34	c.51 others(45): Show c.5165_*5166insGCCTGGACTACTCCCCAGCATTCAGGCACAAGAT	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		3994		chr5	TogoVar
BICC1_chr10_58507872_58836435	58566148	A A	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTATATATACATATACACACG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0121 a0002c0002t0010g0121	1	132	0.0076	34	c.190 others(53): Show c.190+52821_190+52854dupGTGTGTGTGTATATATACATATACAC ACGTGTGT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32135027	T T	TCTCCTCT others(27): Show TCTCCTCTCCTCTCCTCTCCTCTCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0014 a0001c0001t0010g0014	1	290	0.0035	34	c.213 others(53): Show c.213+27497_213+27498insTCTCCTCTCCCCCTCCTCCCCTCCTC TCCTCTCC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120033367	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	296	0.0034	34	c.646 others(53): Show c.646-28322_646-28321insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42857614	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0253 a0001c0001t0004g0253	1	270	0.0037	34	c.225 others(51): Show c.2254+379_2254+380insAAAAAAAAAAAAAATATATATATATATA TATATA	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BIN2_chr12_51276038_51329174	51320934	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 NA18968.hp1 others(1): Show HG03491.hp1 HG03492.hp1 NA18968.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0004t0001g0016 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0004t0001g0016	4	400	0.0100	34	c.81+ others(49): Show c.81+3087_81+3088insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIRC2_chr11_102342214_102383670	102342340	G G	GTGTGTAT others(27): Show GTGTGTATGTGTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	344	0.0029	34	c.-62 others(45): Show c.-6294_-6293insTGTGTATGTGTATATATATATATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4873		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364172	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18945.hp1 NA18985.hp1 HG02683.hp1 NA18945.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0216 a0001c0001t0001g0255 a0001c0001t0001g0095 a0001c0001t0001g0216 a0001c0001t0001g0255	3	344	0.0087	34	c.112 others(51): Show c.1123+459_1123+460insTATATATATATATATATATATATATATA TACATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342340	G G	GTGTGTAT others(27): Show GTGTGTATGTGTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	384	0.0026	34	c.52 others(45): Show c.5238_*5239insTGTGTATGTGTATATATATATATATATATATATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2938		chr11	TogoVar
BIRC6_chr2_32352023_32623878	32397693	T T	TGTATATA others(27): Show TGTATATATATATACACACACACATATATATGTAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03704.hp1 homoSapiens_chm13v2.hp1 HG00140.hp2 HG03704.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0161 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0002g0161 a0002c0002t0003g0164 a0002c0002t0003g0165	3	274	0.0110	34	c.103 others(53): Show c.1034+2100_1034+2101insGTATATATATATACACACACACATAT ATATGTAC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	6/73			chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578969	T T	TTATATAC others(27): Show TTATATACCTAATATATATATACACTTAATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0063 a0001c0010t0002g0063	1	274	0.0037	34	c.133 others(55): Show c.13355+3626_13355+3659dupACTTAATATATATATATACCTAAT ATATATATAC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578979	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp1 HG02145.hp1 others(7): Show HG01074.hp1 HG01175.hp1 HG02145.hp1 HG03490.hp2 HG03704.hp1 NA18963.hp1 NA18999.hp1 NA19030.hp1 NA19057.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0003t0003 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0003t0003 a0001c0005t0001 a0001c0008t0003 a0002c0002t0003	a0001c0001t0001g0258 a0001c0003t0003g0126 a0001c0003t0003g0127 others(7): Show a0001c0001t0001g0258 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0137 a0001c0003t0003g0264 a0001c0005t0001g0207 a0001c0005t0001g0223 a0001c0005t0001g0227 a0001c0008t0003g0145 a0002c0002t0003g0165	10	274	0.0365	34	c.133 others(55): Show c.13355+3624_13355+3625insTATATATATATATATATATATATA TATATATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01257.hp2 others(2): Show HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01517.hp1 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0238 a0001c0001t0003g0241 others(2): Show a0001c0001t0003g0209 a0001c0001t0003g0238 a0001c0001t0003g0241 a0001c0001t0003g0247 a0001c0001t0003g0254	5	404	0.0124	34	c.103 others(53): Show c.1035-1121_1035-1120insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0034 a0003c0002t0001g0034	1	188	0.0053	34	c.44+ others(49): Show c.44+1862_44+1863insATATATATATATATATATATATATATTTTT TTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRB_chr19_40442768_40470745	40460247	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02723.hp1 HG01978.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0120 a0001c0001t0001g0072 a0001c0001t0001g0120	2	362	0.0055	34	c.80- others(49): Show c.80-1703_80-1702insATATATATATATATATATATATATATATAT ATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTGTTTTTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	291	0.0034	34	c.106 others(51): Show c.106+9378_106+9379insGTTTTTGTTTTTTTTTTTTTTTTTTTTT TTTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMF_chr15_40082890_40113879	40106517	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18981.hp1 NA19005.hp1 NA18944.hp1 NA18981.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0002g0046 a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0002g0046	3	414	0.0073	34	c.-5- others(47): Show c.-5-460_-5-427dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding	2/4			chr15	TogoVar
BMPER_chr7_33900539_34161427	34129622	G G	GAAAGAGA others(27): Show GAAAGAGAGAGAGAGAGAAAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19058.hp2 HG02280.hp1 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0007 a0002c0006t0002 a0001c0001t0007 a0002c0006t0002	a0001c0001t0007g0108 a0002c0006t0002g0131 a0001c0001t0007g0108 a0002c0006t0002g0131	2	232	0.0086	34	c.174 others(55): Show c.1746-13607_1746-13606insAAGAGAGAGAGAGAGAAAGAGAGA AAGAAAGAAA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129630	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	232	0.0043	34	c.174 others(55): Show c.1746-13599_1746-13598insAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86824105	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03492.hp2 HG04184.hp1 others(1): Show HG02602.hp1 HG03492.hp2 HG04184.hp1 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0004 a0002c0001t0008 a0002c0001t0041 others(1): Show a0001c0002t0004 a0002c0001t0008 a0002c0001t0041 a0002c0001t0042	a0001c0002t0004g0112 a0002c0001t0008g0060 a0002c0001t0041g0058 others(1): Show a0001c0002t0004g0112 a0002c0001t0008g0060 a0002c0001t0041g0058 a0002c0001t0042g0059	4	278	0.0144	34	c.-26 others(55): Show c.-267-14753_-267-14752insGTGTGTTTGTGTGTGTGTGTGTGT GTTTGTGTGT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0013 a0001c0001t0048g0013	1	224	0.0045	34	c.77- others(51): Show c.77-29900_77-29899insAAAAAATATATATATATATATATATATA TATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BNC2_chr9_16404503_16875670	16861181	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0053 a0001c0007t0053	a0001c0007t0053g0075 a0001c0007t0053g0075	1	176	0.0057	34	c.3+9 others(47): Show c.3+9464_3+9465insATATATATATATATATATATATATATATATAT AT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BOC_chr3_113206557_113292459	113260667	T T	TAGAACAG others(27): Show TAGAACAGAACAGAACAGAACAGAACAGAACAGAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0197 a0001c0012t0001g0197	1	386	0.0026	34	c.377 others(51): Show c.377-7631_377-7598dupAGAACAGAACAGAACAGAACAGAACAGA ACAGAA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113260670	A A	AATAGAAC others(27): Show AATAGAACAGAACAGAACAGAACAGAACAGAACAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0032 a0005c0019t0032	a0005c0019t0032g0034 a0005c0019t0032g0034	1	386	0.0026	34	c.377 others(51): Show c.377-7628_377-7627insTAGAACAGAACAGAACAGAACAGAACAG AACAGA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113260677	C C	CAGAACAG others(27): Show CAGAACAGAACAGAACAGAACAGAACAGAACAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03098.hp2 NA18906.hp2 others(3): Show HG01884.hp2 HG03098.hp2 NA18906.hp2 NA18970.hp2 NA18993.hp2 NA21309.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0002 a0002c0004 a0012c0027 a0001c0002 a0002c0004 a0012c0027	a0001c0002t0024 a0002c0004t0005 a0002c0004t0015 others(2): Show a0001c0002t0024 a0002c0004t0005 a0002c0004t0015 a0002c0004t0023 a0012c0027t0005	a0001c0002t0024g0140 a0002c0004t0005g0276 a0002c0004t0005g0279 others(3): Show a0001c0002t0024g0140 a0002c0004t0005g0276 a0002c0004t0005g0279 a0002c0004t0015g0357 a0002c0004t0023g0168 a0012c0027t0005g0277	6	386	0.0155	34	c.377 others(51): Show c.377-7621_377-7588dupAGAACAGAACAGAACAGAACAGAACAGA ACAGAA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113260682	C C	CAGAACAG others(27): Show CAGAACAGAACAGAACAGAACAGAACAGAACAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00733.hp2 others(10): Show HG00438.hp2 HG00558.hp2 HG00733.hp2 HG00735.hp2 HG02004.hp2 HG02109.hp2 HG02622.hp2 HG02630.hp1 HG03209.hp1 HG04228.hp2 NA18939.hp2 NA18957.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0001c0014 a0002c0004	a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 a0001c0002t0003 a0001c0002t0046 a0001c0002t0054 a0001c0010t0002 a0001c0014t0001 a0002c0004t0001 a0002c0004t0005	a0001c0001t0001g0029 a0001c0001t0007g0205 a0001c0002t0002g0332 others(9): Show a0001c0001t0001g0029 a0001c0001t0007g0205 a0001c0002t0002g0332 a0001c0002t0002g0352 a0001c0002t0002g0369 a0001c0002t0003g0344 a0001c0002t0046g0129 a0001c0002t0054g0251 a0001c0010t0002g0004 a0001c0014t0001g0273 a0002c0004t0001g0359 a0002c0004t0005g0334	13	386	0.0337	34	c.377 others(51): Show c.377-7616_377-7583dupAGAACAGAACAGAACAGAACAGAACAGA ACAGAA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOK_chr2_241553745_241579131	241558052	G G	GAAACAGA others(27): Show GAAACAGACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02647.hp1 NA19074.hp2 HG02615.hp1 HG02647.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018	a0001c0001t0010g0006 a0001c0001t0016g0159 a0001c0001t0018g0082 a0001c0001t0010g0006 a0001c0001t0016g0159 a0001c0001t0018g0082	3	434	0.0069	34	c.-97 others(43): Show c.-971_-970insAAACAGACACACACACACACACACACACACACAC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding		692		chr2	TogoVar
BOLA2B_chr16_30187932_30198666	30190144	A A	ATATATAT others(27): Show ATATATATTTTAATATATAAATATATTATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG02559.hp2 NA18945.hp1 HG01943.hp1 HG02559.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	254	0.0118	34	c.28 others(45): Show c.2830_*2831insATATATATAATATATTTATATATTAAAATATATA	BOLA2B	ENSG00000169627.9	transcript	ENST00000651894.2	protein_coding		2787		chr16	TogoVar
BOLA2_chr16_29448593_29459351	29450809	A A	ATATATAT others(27): Show ATATATATTTTAATATATAAATATATTACATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	174	0.0058	34	c.28 others(45): Show c.2823_*2824insATATATGTAATATATTTATATATTAAAATATATA	BOLA2	ENSG00000183336.9	transcript	ENST00000330978.4	protein_coding		2783		chr16	TogoVar
BOLA2_chr16_29448593_29459351	29450809	A A	ATATATAT others(27): Show ATATATATTTTAATATATAAATATATTATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	174	0.0058	34	c.28 others(45): Show c.2823_*2824insATATATATAATATATTTATATATTAAAATATATA	BOLA2	ENSG00000183336.9	transcript	ENST00000330978.4	protein_coding		2783		chr16	TogoVar
BOP1_chr8_144257045_144296438	144262774	A A	ACCCCCAC others(27): Show ACCCCCACCCCTCACCTGCAGGGTACACCGCCCCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG03491.hp1 others(7): Show HG00741.hp2 HG01175.hp2 HG03491.hp1 HG03491.hp2 NA18955.hp2 NA18974.hp2 NA18998.hp2 NA19000.hp2 NA19082.hp1 NA19082.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0011 a0004c0007 others(1): Show a0001c0001 a0001c0011 a0004c0007 a0005c0009	a0001c0001t0001 a0001c0011t0001 a0004c0007t0001 others(1): Show a0001c0001t0001 a0001c0011t0001 a0004c0007t0001 a0005c0009t0001	a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0113 others(7): Show a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0113 a0001c0001t0001g0145 a0001c0001t0001g0182 a0001c0001t0001g0237 a0001c0001t0001g0354 a0001c0011t0001g0138 a0004c0007t0001g0147 a0005c0009t0001g0148	10	398	0.0251	34	c.189 others(49): Show c.1894+45_1894+78dupGGGGGCGGTGTACCCTGCAGGTGAGGGGTG GGGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144262803	G G	GCCCCCCC others(27): Show GCCCCCCCCCACCCCTCACCTGCAGGGTACACCGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp1 others(59): Show HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02293.hp2 HG02602.hp1 HG02615.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18953.hp2 NA18955.hp1 NA18969.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19066.hp2 NA19079.hp2 NA19080.hp1 NA19085.hp2 NA19090.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0001c0011 a0001c0012 others(2): Show a0001c0001 a0001c0011 a0001c0012 a0004c0007 a0010c0016	a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 a0001c0012t0001 a0004c0007t0001 a0010c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(54): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0001g0345 a0001c0001t0001g0355 a0001c0001t0001g0357 a0001c0001t0001g0368 a0001c0001t0001g0370 a0001c0001t0002g0021 a0001c0011t0001g0231 a0001c0012t0001g0151 a0004c0007t0001g0064 a0010c0016t0001g0115	62	398	0.1558	34	c.189 others(49): Show c.1894+49_1894+50insGCGGTGTACCCTGCAGGTGAGGGGTGGGGG GGGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144262839	C C	CCCCCCCC others(27): Show CCCCCCCCCCCACCCCTCACCTGCAGGGTGCACTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0167 a0001c0006t0001g0167	1	398	0.0025	34	c.189 others(49): Show c.1894+13_1894+14insCAGTGCACCCTGCAGGTGAGGGGTGGGGGG GGGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BORCS8_chr19_19171906_19197152	19174385	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03516.hp2 HG02257.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0052 a0001c0001t0001g0056	2	428	0.0047	34	c.31 others(45): Show c.3117_*3118insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding		2520		chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177696	G G	GGAAGAGA others(27): Show GGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0150 a0001c0001t0005g0150	1	428	0.0023	34	c.43 others(49): Show c.43-237_*43-236insTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT CTTC	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177696	G G	GGAAGGAA others(27): Show GGAAGGAAAAAGAAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0139 a0001c0001t0004g0139	1	428	0.0023	34	c.43 others(49): Show c.43-237_*43-236insTTTCTTTTCTTTTCTTTTCTTTTCTTTTTC CTTC	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPNT2_chr8_56952931_56998867	56956044	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02622.hp2 others(6): Show HG01069.hp1 HG01071.hp1 HG02622.hp2 HG02735.hp2 HG02818.hp2 HG02922.hp1 HG03654.hp2 NA18985.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0008 a0001c0001t0002g0003 a0001c0001t0002g0013 others(6): Show a0001c0001t0001g0008 a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0217 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0006g0184	9	356	0.0253	34	c.77 others(45): Show c.7748_*7749insATATATATATATATATATATATATATATATATAT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding		1886		chr8	TogoVar
BRAP_chr12_111637146_111690956	111667698	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	364	0.0028	34	c.748 others(51): Show c.748-1912_748-1911insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	5/11			chr12	TogoVar
BRCA1_chr17_43039295_43130364	43100659	T T	TATATATA others(27): Show TATATATATGTTATATATATATACATATATATAAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0116 a0003c0003t0003g0116	1	276	0.0036	34	c.442 others(49): Show c.442-780_442-779insGTTATATATATGTATATATATATAACATAT ATAT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar

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