Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BOLA2_chr16_29448593_29459351	29450757	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	174	0.0058	28	c.28 others(39): Show c.2875_*2876insATATATATATATATATATATATATATAT	BOLA2	ENSG00000183336.9	transcript	ENST00000330978.4	protein_coding		2835		chr16	TogoVar
BORCS7_chr10_102849259_102869961	102853678	G G	GTATATAT others(21): Show GTATATATGTGTATATATATGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	454	0.0022	28	c.-60 others(37): Show c.-609_-608insTATATATGTGTATATATATGTGTATATA	BORCS7	ENSG00000166275.16	transcript	ENST00000339834.10	protein_coding		580		chr10	TogoVar
BORCS8_chr19_19171906_19197152	19174385	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03453.hp1 HG06807.hp1 HG02886.hp1 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0291 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0291	3	428	0.0070	28	c.31 others(39): Show c.3117_*3118insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding		2520		chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177696	G G	GGAAGGAA others(21): Show GGAAGGAAGAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0119 a0001c0001t0005g0119	1	428	0.0023	28	c.43 others(43): Show c.43-237_*43-236insTTTCTTTTCTTTTCTTTTCTCTTCCTTC	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPIFA1_chr20_33230996_33248306	33231141	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02559.hp2 others(2): Show HG01891.hp1 HG02258.hp1 HG02559.hp2 HG03471.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0040 a0001c0001t0002g0068 a0001c0001t0002g0158 others(1): Show a0001c0001t0002g0040 a0001c0001t0002g0068 a0001c0001t0002g0158 a0001c0001t0004g0021	5	382	0.0131	28	c.-49 others(39): Show c.-4925_-4924insGAAGGAAGGAAGGAAGGAAGGAAGAAAG	BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding		4854		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231141	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02559.hp1 others(2): Show HG01891.hp2 HG02258.hp1 HG02559.hp1 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0071 a0001c0001t0002g0025 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0071 a0001c0001t0002g0025 a0001c0001t0002g0047 a0001c0001t0002g0048	5	416	0.0120	28	c.35 others(39): Show c.3524_*3525insGAAGGAAGGAAGGAAGGAAGGAAGAAAG	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		3336		chr20	TogoVar
BPIFB1_chr20_33278214_33314871	33295662	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0164 a0011c0014t0001g0164	1	388	0.0026	28	c.598 others(45): Show c.598-1844_598-1843insAAGAAAGAAAGAAAGAAAGAAAGAAAGA	BPIFB1	ENSG00000125999.11	transcript	ENST00000253354.2	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33108423	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02074.hp2 others(9): Show HG01168.hp2 HG01169.hp1 HG02074.hp2 HG02630.hp2 HG03195.hp2 HG03486.hp2 HG03704.hp1 HG04115.hp1 HG04199.hp1 NA18747.hp1 NA19074.hp2 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0006 a0002c0002t0001g0065 a0002c0002t0001g0067 others(7): Show a0002c0002t0001g0006 a0002c0002t0001g0065 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0076 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0107 a0002c0002t0002g0103 a0002c0002t0002g0106	12	344	0.0349	28	c.182 others(45): Show c.1821+617_1821+618insTATATATATATATATATATATATATATA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33108423	C C	CTATATAT others(21): Show CTATATATATATATGTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01981.hp1 HG02148.hp2 others(3): Show HG01261.hp2 HG01981.hp1 HG02148.hp2 HG02970.hp2 HG03471.hp2 NA20805.hp2	a0005 a0020 a0024 a0005 a0020 a0024	a0005c0006 a0020c0027 a0024c0030 a0005c0006 a0020c0027 a0024c0030	a0005c0006t0001 a0020c0027t0001 a0024c0030t0001 a0005c0006t0001 a0020c0027t0001 a0024c0030t0001	a0005c0006t0001g0010 a0005c0006t0001g0176 a0005c0006t0001g0177 others(2): Show a0005c0006t0001g0010 a0005c0006t0001g0176 a0005c0006t0001g0177 a0020c0027t0001g0254 a0024c0030t0001g0010	6	344	0.0174	28	c.182 others(45): Show c.1821+616_1821+617insGTCTATATATATATATATATATATATAT	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPI_chr20_38299156_38342505	38339638	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 NA18906.hp2 HG03130.hp2 NA18906.hp2	a0005 a0013 a0005 a0013	a0005c0018 a0013c0014 a0005c0018 a0013c0014	a0005c0018t0001 a0013c0014t0001 a0005c0018t0001 a0013c0014t0001	a0005c0018t0001g0262 a0013c0014t0001g0338 a0005c0018t0001g0262 a0013c0014t0001g0338	2	426	0.0047	28	c.24 others(39): Show c.2454_*2455insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding		2134		chr20	TogoVar
BPNT2_chr8_56952931_56998867	56956044	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0201 a0001c0001t0014g0038 a0001c0001t0002g0201 a0001c0001t0014g0038	3	356	0.0084	28	c.77 others(39): Show c.7748_*7749insATATATATATATATATATATATATATAT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding		1886		chr8	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0242 a0002c0002t0002g0242	1	274	0.0037	28	c.530 others(47): Show c.5304-1564_5304-1563insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67979169	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0099 a0001c0005t0005g0099	1	274	0.0037	28	c.872 others(47): Show c.8727-3062_8727-3061insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAP_chr12_111637146_111690956	111667698	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03098.hp1 NA19043.hp1 HG02970.hp1 HG03098.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0185 a0001c0001t0001g0218 a0001c0001t0001g0111 a0001c0001t0001g0185 a0001c0001t0001g0218	3	364	0.0082	28	c.748 others(45): Show c.748-1912_748-1911insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	5/11			chr12	TogoVar
BRAT1_chr7_2532810_2560524	2552081	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp2 HG02165.hp1 HG00735.hp1 HG01175.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0239 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0239	3	424	0.0071	28	c.127 others(45): Show c.127+2223_127+2224insATATATATATATATATATATATATATAT	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	424	0.0024	28	c.127 others(45): Show c.127+2198_127+2199insAATATATATATATATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19030.hp2 NA19084.hp2 HG03831.hp2 NA19030.hp2 NA19084.hp2	a0001 a0016 a0021 a0001 a0016 a0021	a0001c0001 a0016c0025 a0021c0034 a0001c0001 a0016c0025 a0021c0034	a0001c0001t0001 a0016c0025t0001 a0021c0034t0001 a0001c0001t0001 a0016c0025t0001 a0021c0034t0001	a0001c0001t0001g0132 a0016c0025t0001g0118 a0021c0034t0001g0131 a0001c0001t0001g0132 a0016c0025t0001g0118 a0021c0034t0001g0131	3	424	0.0071	28	c.127 others(45): Show c.127+2198_127+2199insAAAAAATATATATATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRI3BP_chr12_124988645_125036231	124997214	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01168.hp2 HG03139.hp1 others(2): Show HG00597.hp1 HG01168.hp2 HG03139.hp1 NA19068.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0097 a0001c0001t0001 a0001c0001t0032 a0001c0001t0097	a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0156 others(2): Show a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0156 a0001c0001t0032g0125 a0001c0001t0097g0341	5	410	0.0122	28	c.213 others(45): Show c.213+3230_213+3231insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	414	0.0024	28	c.-15 others(39): Show c.-1551_-1550insAAATATATATATATATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1440		chr7	TogoVar
BRINP1_chr9_119161629_119374435	119249877	A A	AGGGAGGG others(21): Show AGGGAGGGAAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0210 a0001c0005t0001g0210	1	236	0.0042	28	c.219 others(43): Show c.219-728_219-727insCCCTCCCTCCCTCCCTCCCTTCCCTCCC	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	2/7			chr9	TogoVar
BRINP1_chr9_119161629_119374435	119367217	G G	GTGTGATT others(21): Show GTGTGATTGATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02965.hp2 HG03139.hp1 HG01243.hp1 HG02965.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0184 a0001c0003t0001g0183 a0001c0004t0001g0015 a0001c0001t0001g0184 a0001c0003t0001g0183 a0001c0004t0001g0015	3	236	0.0127	28	c.-51 others(45): Show c.-51+1838_-51+1839insATATATATATATATATATATCAATCACA	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRINP1_chr9_119161629_119374435	119367221	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp2 HG01123.hp2 others(6): Show HG00423.hp2 HG00741.hp2 HG01123.hp2 HG01175.hp1 HG03225.hp1 HG03669.hp1 NA18953.hp2 NA19070.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0044 a0001c0001t0001g0138 a0001c0001t0001g0140 others(6): Show a0001c0001t0001g0044 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0179 a0001c0003t0001g0139 a0001c0003t0001g0144	9	236	0.0381	28	c.-51 others(45): Show c.-51+1834_-51+1835insATATATATATATATATATATATATATAT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRINP3_chr1_190092658_190482864	190277087	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01358.hp2 HG01496.hp1 others(13): Show HG01167.hp1 HG01358.hp2 HG01496.hp1 HG01517.hp1 HG01934.hp1 HG02083.hp2 HG02135.hp1 HG02523.hp2 HG02818.hp1 HG03098.hp2 HG03491.hp1 HG03492.hp2 HG03942.hp2 NA18747.hp1 NA18948.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0045 others(13): Show a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0141 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0187 a0001c0001t0002g0233 a0001c0001t0003g0005 a0001c0001t0006g0012	16	240	0.0667	28	c.427 others(45): Show c.427+4445_427+4472dupTATATATATATATATATATATATATATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190277113	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02922.hp2 HG00609.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0185 a0001c0001t0001g0044 a0001c0001t0001g0185	2	240	0.0083	28	c.427 others(45): Show c.427+4446_427+4447insAATATATATATATATATATATATATATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190277115	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	240	0.0042	28	c.427 others(45): Show c.427+4444_427+4445insAATATATATATATATATATATATATATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190396713	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01358.hp2 HG02735.hp2 others(1): Show HG00140.hp1 HG01358.hp2 HG02735.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0057 a0001c0001t0002g0211 a0001c0001t0002g0218 others(1): Show a0001c0001t0001g0057 a0001c0001t0002g0211 a0001c0001t0002g0218 a0001c0001t0002g0221	4	240	0.0167	28	c.236 others(47): Show c.236+57941_236+57942insATATATATATATATATATATATATAT AT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRIP1_chr17_61674139_61868528	61787393	T T	TATATATT others(21): Show TATATATTTATATAAAATATTTATATAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp2 HG03540.hp1 others(1): Show HG01109.hp2 HG02257.hp2 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0017 a0001c0005t0031 a0001c0001t0017 a0001c0005t0031	a0001c0001t0017g0142 a0001c0001t0017g0144 a0001c0001t0017g0145 others(1): Show a0001c0001t0017g0142 a0001c0001t0017g0144 a0001c0001t0017g0145 a0001c0005t0031g0146	4	266	0.0150	28	c.147 others(47): Show c.1474-2997_1474-2970dupTTTATATAAATATTTTATATAAATAT AT	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	10/19			chr17	TogoVar
BRSK2_chr11_1384934_1467689	1466268	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00673.hp1 others(19): Show HG00280.hp2 HG00639.hp2 HG00673.hp1 HG01081.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG02451.hp2 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG03195.hp1 HG03579.hp2 HG03669.hp2 NA18522.hp1 NA19012.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0015 others(1): Show a0001c0001 a0001c0003 a0001c0015 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0028 a0001c0001t0032 a0001c0001t0070 a0001c0003t0001 a0001c0003t0004 a0001c0003t0014 a0001c0015t0001 a0002c0002t0030	a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0046 others(19): Show a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0113 a0001c0001t0001g0317 a0001c0001t0001g0343 a0001c0001t0003g0193 a0001c0001t0004g0161 a0001c0001t0004g0179 a0001c0001t0013g0022 a0001c0001t0013g0311 a0001c0001t0028g0332 a0001c0001t0028g0333 a0001c0001t0032g0195 a0001c0001t0032g0209 a0001c0001t0070g0210 a0001c0003t0001g0331 a0001c0003t0004g0290 a0001c0003t0014g0036 a0001c0003t0014g0037 a0001c0015t0001g0315 a0002c0002t0030g0174	22	360	0.0611	28	c.55 others(39): Show c.5545_*5546insACACACACACACACACACACACACACAC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding		3580		chr11	TogoVar
BRWD1_chr21_39180482_39318632	39244921	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG02056.hp2 others(2): Show HG00140.hp1 HG00140.hp2 HG02056.hp2 NA18990.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0008t0003	a0001c0001t0002g0042 a0001c0001t0003g0320 a0001c0001t0003g0325 others(2): Show a0001c0001t0002g0042 a0001c0001t0003g0320 a0001c0001t0003g0325 a0001c0001t0004g0272 a0001c0008t0003g0300	5	338	0.0148	28	c.248 others(47): Show c.2481+2779_2481+2780insATATATATATATATATATATATATAT AT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	21/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39259400	C C	CCTGCCTT others(21): Show CCTGCCTTCGGCCTCCCGACTTAGCTGGG	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	338	0.0030	28	c.188 others(45): Show c.1886-729_1886-728insCCCAGCTAAGTCGGGAGGCCGAAGGCAG	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	17/40			chr21	TogoVar
BRWD3_chrX_80664503_80814877	80700433	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0014 a0001c0001t0055g0014	1	265	0.0038	28	c.283 others(45): Show c.2836-370_2836-369insATATATATATATATATATATATATATAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	24/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80809759	A A	AAGAGAGA others(21): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0008 a0001c0001t0049g0008	1	265	0.0038	28	c.-31 others(37): Show c.-316_-289dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	1/41	289		chrX	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 NA18972.hp2 HG03041.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0209 a0001c0001t0009 a0001c0001t0209	a0001c0001t0009g0004 a0001c0001t0209g0063 a0001c0001t0009g0004 a0001c0001t0209g0063	2	448	0.0045	28	c.-23 others(39): Show c.-2350_-2349insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSN_chr3_49549477_49676549	49606181	A A	ATATATTA others(21): Show ATATATTATATATACATATATTATATATG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG00733.hp2 others(30): Show HG00544.hp1 HG00639.hp2 HG00733.hp2 HG01168.hp1 HG01515.hp2 HG01891.hp1 HG01934.hp2 HG01981.hp2 HG02004.hp2 HG02109.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02735.hp2 HG02896.hp2 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03516.hp2 HG03654.hp1 HG04115.hp1 NA18944.hp1 NA18951.hp1 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19003.hp2 NA19079.hp1 NA20129.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0008 a0015 a0016 a0018 a0021	a0001c0001 a0001c0017 a0003c0003 others(7): Show a0001c0001 a0001c0017 a0003c0003 a0003c0004 a0004c0006 a0008c0015 a0015c0035 a0016c0021 a0018c0031 a0021c0025	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0026 a0001c0001t0032 a0001c0017t0002 a0003c0003t0004 a0003c0004t0006 a0004c0006t0002 a0008c0015t0002 a0015c0035t0002 a0016c0021t0002 a0018c0031t0002 a0021c0025t0028	a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0112 others(30): Show a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0141 a0001c0001t0002g0151 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0138 a0001c0001t0011g0098 a0001c0001t0012g0116 a0001c0001t0019g0093 a0001c0001t0026g0146 a0001c0001t0032g0144 a0001c0017t0002g0106 a0003c0003t0004g0014 a0003c0003t0004g0016 a0003c0003t0004g0020 a0003c0003t0004g0023 a0003c0004t0006g0117 a0004c0006t0002g0035 a0004c0006t0002g0036 a0008c0015t0002g0103 a0008c0015t0002g0108 a0015c0035t0002g0134 a0016c0021t0002g0111 a0018c0031t0002g0091 a0021c0025t0028g0101	33	186	0.1774	28	c.225 others(47): Show c.225-18789_225-18788insTATATATACATATATTATATATGTAT AT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49613303	C C	CGAGAGAG others(21): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0035 a0004c0006t0002g0035	1	186	0.0054	28	c.225 others(47): Show c.225-11653_225-11626dupGAGAGAGAGAGAGAGAGAGAGAGAGA GA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49613303	C C	CGAGCGAG others(21): Show CGAGCGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	186	0.0054	28	c.225 others(47): Show c.225-11669_225-11668insCGAGAGAGAGAGAGAGAGAGAGAGAG AG	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BST2_chr19_17397939_17410630	17410496	T T	TTATATAT others(21): Show TTATATATGTATATATATATATATATGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	412	0.0024	28	c.-49 others(39): Show c.-4922_-4921insTACATATATATATATATATACATATATA	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4867		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATACA others(21): Show TATATACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA19081.hp2 NA18960.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	412	0.0049	28	c.-49 others(39): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTGTATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(21): Show TATATATACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp2 NA18986.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0002g0002	2	412	0.0049	28	c.-49 others(39): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(21): Show TATATATATACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	412	0.0024	28	c.-49 others(39): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BSX_chr11_122972570_122986834	122983523	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAAGAAAAGAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	422	0.0024	28	c.-18 others(39): Show c.-1853_-1852insTCTTTTCTTTTCTTTTCTTTCTTTCTTT	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding		1690		chr11	TogoVar
BTAF1_chr10_91918770_92036437	91991265	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01433.hp2 HG02027.hp1 others(9): Show HG00423.hp2 HG01433.hp2 HG02027.hp1 NA18952.hp2 NA18962.hp2 NA18968.hp2 NA18969.hp2 NA18987.hp2 NA19007.hp2 NA19086.hp2 NA19087.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0236 a0001c0001t0002g0245 others(9): Show a0001c0001t0002g0173 a0001c0001t0002g0236 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0259 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0305	12	330	0.0364	28	c.285 others(45): Show c.2855-849_2855-848insTATATATATATATATATATATATATATA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91991279	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19065.hp1 NA19007.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0307 a0001c0001t0003g0201 a0001c0001t0003g0307	2	330	0.0061	28	c.285 others(45): Show c.2855-827_2855-826insTATATATATATATAAATATATATATATA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91991832	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	330	0.0030	28	c.285 others(45): Show c.2855-286_2855-285insTATATATATATATATATATATATACACA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012220	T T	TCCCCTCC others(21): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0123 a0001c0001t0013g0123	1	330	0.0030	28	c.431 others(45): Show c.4311+829_4311+830insTCCCCCCCTCCCCTCCCCTCCCCTCCCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012240	T T	TCCCCCTG others(21): Show TCCCCCTGTATCTCCTCCCCTCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02055.hp2 NA18979.hp2 others(1): Show HG02027.hp2 HG02055.hp2 NA18979.hp2 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0002c0005t0003 a0001c0001t0003 a0002c0005t0003	a0001c0001t0003g0193 a0001c0001t0003g0218 a0001c0001t0003g0229 others(1): Show a0001c0001t0003g0193 a0001c0001t0003g0218 a0001c0001t0003g0229 a0002c0005t0003g0186	4	330	0.0121	28	c.431 others(45): Show c.4311+830_4311+831insTGTATCTCCTCCCCTCTCCCCTCCCCCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92032009	C C	CTTCTTTT others(21): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA19077.hp2 NA18952.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0310 a0001c0001t0003g0311	2	330	0.0061	28	c.30 others(39): Show c.3076_*3077insTTCTTTTTTTTTTTTTTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding		573		chr10	TogoVar
BTBD16_chr10_122266296_122343159	122273221	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0313 a0002c0002t0001g0313	1	382	0.0026	28	c.-43 others(45): Show c.-43+1732_-43+1733insTATATATATATATATATATATATATATA	BTBD16	ENSG00000138152.10	transcript	ENST00000260723.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD17_chr17_74351416_74366868	74365044	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	28	c.-32 others(39): Show c.-3226_-3225insATATATATATATATATATATATATATAT	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		3177		chr17	TogoVar
BTBD19_chr1_44803523_44820585	44814171	T T	TTCTTTCT others(21): Show TTCTTTCTTCTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0128 a0001c0001t0128	a0001c0001t0128g0006 a0001c0001t0128g0006	1	436	0.0023	28	c.40 others(37): Show c.400_*401insCTTTCTTCTTCTTTCTTTCTTTCTTTCT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8	401	INFO_REALIGN_3_PRIME	chr1	TogoVar

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