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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
BRD9_chr5_858741_897801	865587	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0008 a0002c0012t0008	a0002c0012t0008g0182 a0002c0012t0008g0182	1	364	0.0028	0	c.152 others(6): Show c.1526-6A>G		BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding	14/15					chr5	TogoVar
BRD9_chr5_858741_897801	878492	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	364	0.0028	0	c.113 others(6): Show c.1139-5C>T		BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding	10/15					chr5	TogoVar
BRD9_chr5_858741_897801	886584	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01261.hp2 HG01884.hp1 HG02280.hp2 others(7): Show HG01261.hp2 HG01884.hp1 HG02280.hp2 HG02559.hp2 HG02723.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0012 a0002c0003 a0002c0012	a0002c0003t0008 a0002c0003t0010 a0002c0003t0012 others(1): Show a0002c0003t0008 a0002c0003t0010 a0002c0003t0012 a0002c0012t0008	a0002c0003t0008g0183 a0002c0003t0008g0184 a0002c0003t0008g0185 others(7): Show a0002c0003t0008g0183 a0002c0003t0008g0184 a0002c0003t0008g0185 a0002c0003t0008g0186 a0002c0003t0010g0049 a0002c0003t0010g0050 a0002c0003t0010g0051 a0002c0003t0012g0065 a0002c0003t0012g0066 a0002c0012t0008g0182	10	364	0.0275	0	c.833 others(5): Show c.833+8T>C		BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding	7/15					chr5	TogoVar
BRD9_chr5_858741_897801	889579	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp1 HG01168.hp1 HG01169.hp2 others(19): Show HG01081.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01433.hp2 HG01891.hp2 HG02148.hp1 HG02486.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03195.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 others(1): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0004t0003	a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0151 others(8): Show a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0004g0011 a0001c0002t0004g0052 a0001c0002t0009g0020 a0001c0002t0009g0177 a0001c0004t0003g0012 a0001c0004t0003g0039 a0001c0004t0003g0150	22	364	0.0604	0	c.461 others(5): Show c.461+8G>T		BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding	4/15					chr5	TogoVar
BRDT_chr1_91944401_92019421	91976438	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0293 a0007c0013t0002g0293	1	318	0.0031	0	c.618 others(3): Show c.618A>T	p.Gln others(6): Show p.Gln206His	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	5/19	937/3310	618/2844	206/947		chr1	TogoVar
BRDT_chr1_91944401_92019421	91977038	TGTAGGTT others(20): Show TGTAGGTTACAAAAGGTGTGAAGAGGAA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19059.hp1 NA19059.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0002 a0012c0016t0002	a0012c0016t0002g0069 a0012c0016t0002g0069	1	318	0.0031	-27	c.619 others(36): Show c.619-4_641delGTAGGTTACAAAAGGTGTGAAGAGGAA	p.Val others(5): Show p.Val207fs	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	6/19		619/2844	207/947		chr1	TogoVar
BRF2_chr8_37838268_37854861	37846850	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp2 HG02738.hp2 HG02809.hp1 others(4): Show HG02647.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG03225.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0032	7	380	0.0184	0	c.536 others(5): Show c.536+4C>T		BRF2	ENSG00000104221.13	transcript	ENST00000220659.11	protein_coding	3/3					chr8	TogoVar
BRI3_chr7_98276686_98296545	98281908	CGCCGCCG others(27): Show CGCCGCCGCCCTACCCCTACCTCGTCACAGGTGGG	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19086.hp1 NA19086.hp1	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0002 a0000c0006t0002	a0000c0006t0002g0050 a0000c0006t0002g0050	1	414	0.0024	-34	c.114 others(43): Show c.114_142+5delGCCGCCGCCCTACCCCTACCTCGTCACAGGTGGG	p.Pro others(4): Show p.Pro39fs	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding	1/3	224/790	114/378	38/125		chr7	TogoVar
BRI3_chr7_98276686_98296545	98282348	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	414	0.0024	0	c.143 others(5): Show c.143-3C>T		BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding	1/2					chr7	TogoVar
BRI3_chr7_98276686_98296545	98291088	CTCTCTGC others(3): Show CTCTCTGCCCG	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	414	0.0024	-10	c.246 others(22): Show c.246-15_246-6delCCGTCTCTGC		BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding	2/2				INFO_REALIGN_3_PRIME	chr7	TogoVar
BRICD5_chr16_2204253_2215863	2209463	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03710.hp1 HG03942.hp2 HG03710.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	434	0.0046	0	c.593 others(5): Show c.593-7G>A		BRICD5	ENSG00000182685.8	transcript	ENST00000328540.8	protein_coding	5/5					chr16	TogoVar
BRINP1_chr9_119161629_119374435	119214162	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18612.hp2 NA18747.hp2 NA18612.hp2 NA18747.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0091 a0003c0008t0001g0174 a0003c0008t0001g0091 a0003c0008t0001g0174	2	236	0.0085	0	c.686 others(5): Show c.686-7C>T		BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	5/7					chr9	TogoVar
BRINP2_chr1_177165958_177287422	177278557	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	252	0.0040	0	c.101 others(6): Show c.1013-6C>T		BRINP2	ENSG00000198797.7	transcript	ENST00000361539.5	protein_coding	6/7					chr1	TogoVar
BRIP1_chr17_61674139_61868528	61776394	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0175 a0001c0001t0004g0175	1	266	0.0038	0	c.209 others(6): Show c.2097+7G>A		BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19					chr17	TogoVar
BRIX1_chr5_34910711_34930996	34925207	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG01169.hp1 HG01175.hp2 others(6): Show HG01167.hp1 HG01169.hp1 HG01175.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp1 NA18953.hp1 NA18992.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0064 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0064 a0001c0001t0001g0104 a0001c0001t0001g0141 a0001c0005t0001g0102	9	440	0.0205	-1	c.793 others(6): Show c.793-3delT		BRIX1	ENSG00000113460.13	transcript	ENST00000336767.6	protein_coding	9/9				INFO_REALIGN_3_PRIME	chr5	TogoVar
BRIX1_chr5_34910711_34930996	34925223	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp1 HG01517.hp2 HG01256.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	440	0.0046	0	c.793 others(5): Show c.793-3T>A		BRIX1	ENSG00000113460.13	transcript	ENST00000336767.6	protein_coding	9/9					chr5	TogoVar
BRME1_chr19_13877348_13911117	13882951	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01074.hp2 HG02738.hp1 HG01074.hp2 HG02738.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0052 a0009c0009t0002g0075 a0009c0009t0002g0052 a0009c0009t0002g0075	2	322	0.0062	0	c.185 others(4): Show c.1858C>T	p.Arg others(6): Show p.Arg620Trp	BRME1	ENSG00000132016.12	transcript	ENST00000586783.6	protein_coding	9/9	2282/2885	1858/2007	620/668		chr19	TogoVar
BRME1_chr19_13877348_13911117	13893221	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0173 a0012c0021t0001g0173	1	322	0.0031	0	c.209 others(3): Show c.209C>T	p.Ser others(5): Show p.Ser70Phe	BRME1	ENSG00000132016.12	transcript	ENST00000586783.6	protein_coding	4/9	633/2885	209/2007	70/668		chr19	TogoVar
BRMS1L_chr14_35821338_35876963	35863865	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	374	0.0027	0	c.539 others(5): Show c.539-5G>C		BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding	5/9					chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35865699	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp1 HG01496.hp1 HG01884.hp1 others(17): Show HG01123.hp1 HG01496.hp1 HG01884.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02723.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp1 HG03540.hp2 NA18959.hp1 NA18995.hp2 NA19030.hp1 NA19083.hp1 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0059 others(14): Show a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0193	20	374	0.0535	1	c.688 others(6): Show c.688-8dupT		BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding	7/9				INFO_REALIGN_3_PRIME	chr14	TogoVar
BRMS1_chr11_66332339_66350104	66338790	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00639.hp1 HG01069.hp2 others(3): Show HG00280.hp2 HG00639.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	6	424	0.0142	0	c.629 others(5): Show c.629-5C>T		BRMS1	ENSG00000174744.14	transcript	ENST00000359957.8	protein_coding	7/9					chr11	TogoVar
BRMS1_chr11_66332339_66350104	66341199	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG01099.hp2 HG00280.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	424	0.0047	0	c.358 others(5): Show c.358+7G>A		BRMS1	ENSG00000174744.14	transcript	ENST00000359957.8	protein_coding	4/9					chr11	TogoVar
BRMS1_chr11_66332339_66350104	66341526	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	424	0.0024	0	c.230 others(5): Show c.230+7G>A		BRMS1	ENSG00000174744.14	transcript	ENST00000359957.8	protein_coding	3/9					chr11	TogoVar
BRPF1_chr3_9726735_9753015	9745813	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02922.hp1 HG02922.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0006 a0004c0013t0001g0006	1	426	0.0024	0	c.320 others(4): Show c.3207G>A	p.Met others(7): Show p.Met1069Ile	BRPF1	ENSG00000156983.17	transcript	ENST00000383829.7	protein_coding	12/14	3621/4743	3207/3663	1069/1220		chr3	TogoVar
BRPF3_chr6_36191744_36237790	36209919	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02056.hp2 NA19058.hp1 NA19080.hp1 HG02056.hp2 NA19058.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089	3	336	0.0089	0	c.186 others(6): Show c.1866+4A>G		BRPF3	ENSG00000096070.19	transcript	ENST00000357641.10	protein_coding	5/12					chr6	TogoVar
BRSK1_chr19_55278997_55317562	55287008	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19006.hp1 NA19006.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0027 a0006c0006t0027	a0006c0006t0027g0151 a0006c0006t0027g0151	1	338	0.0030	0	c.138 others(3): Show c.138G>C	p.Gly others(5): Show p.Gly46Gly	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	2/19	584/3277	138/2337	46/778		chr19	TogoVar
BRSK1_chr19_55278997_55317562	55287009	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19006.hp1 NA19006.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0027 a0006c0006t0027	a0006c0006t0027g0151 a0006c0006t0027g0151	1	338	0.0030	0	c.139 others(3): Show c.139C>G	p.Leu others(5): Show p.Leu47Val	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	2/19	585/3277	139/2337	47/778		chr19	TogoVar
BRSK1_chr19_55278997_55317562	55289628	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	338	0.0030	0	c.458 others(5): Show c.458+8G>A		BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	4/18					chr19	TogoVar
BRSK1_chr19_55278997_55317562	55306246	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00438.hp1 HG00609.hp2 others(40): Show HG00408.hp2 HG00438.hp1 HG00609.hp2 HG00735.hp1 HG00741.hp1 HG01123.hp1 HG01175.hp2 HG02027.hp1 HG02622.hp1 HG02683.hp2 HG03098.hp1 HG03490.hp1 HG03710.hp2 HG03831.hp1 NA18747.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18961.hp2 NA18965.hp2 NA18969.hp1 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19086.hp1 NA19088.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0015 a0001c0002 a0001c0010 a0001c0015	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0019 a0001c0002t0020 a0001c0002t0023 a0001c0002t0028 a0001c0010t0001 a0001c0015t0001	a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0018 others(35): Show a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0040 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0139 a0001c0002t0001g0194 a0001c0002t0001g0203 a0001c0002t0001g0232 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0278 a0001c0002t0002g0004 a0001c0002t0002g0054 a0001c0002t0002g0066 a0001c0002t0002g0153 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0222 a0001c0002t0002g0242 a0001c0002t0002g0283 a0001c0002t0004g0056 a0001c0002t0006g0041 a0001c0002t0008g0138 a0001c0002t0009g0021 a0001c0002t0009g0077 a0001c0002t0011g0078 a0001c0002t0012g0075 a0001c0002t0019g0265 a0001c0002t0020g0115 a0001c0002t0023g0029 a0001c0002t0028g0259 a0001c0010t0001g0193 a0001c0015t0001g0059	43	338	0.1272	0	c.189 others(6): Show c.1891-6G>T		BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	16/18					chr19	TogoVar
BRSK2_chr11_1384934_1467689	1436037	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	360	0.0028	0	c.92- others(4): Show c.92-3C>T		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					chr11	TogoVar
BRSK2_chr11_1384934_1467689	1440932	AG AG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp2 HG00423.hp1 others(116): Show HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18945.hp1 NA18947.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18980.hp2 NA18983.hp2 NA18993.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19067.hp1 NA19068.hp1 NA19080.hp1 NA19083.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0015 a0002c0002 a0002c0005 a0002c0007 a0002c0008 a0003c0014 a0004c0009 a0006c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(52): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0036 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0059 a0001c0001t0060 a0001c0001t0063 a0001c0001t0064 a0001c0001t0070 a0001c0001t0075 a0001c0001t0076 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0014 a0001c0003t0026 a0001c0003t0031 a0001c0004t0001 a0001c0004t0004 a0001c0006t0001 a0001c0006t0027 a0001c0015t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0010 a0002c0002t0013 a0002c0002t0015 a0002c0002t0016 a0002c0002t0019 a0002c0002t0023 a0002c0002t0049 a0002c0002t0051 a0002c0005t0005 a0002c0005t0034 a0002c0007t0010 a0002c0008t0002 a0002c0008t0005 a0003c0014t0002 a0004c0009t0008 a0006c0012t0037	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(114): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0001t0001g0107 a0001c0001t0001g0141 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0317 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0227 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0288 a0001c0001t0004g0051 a0001c0001t0004g0121 a0001c0001t0006g0197 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0011g0303 a0001c0001t0013g0022 a0001c0001t0013g0311 a0001c0001t0014g0039 a0001c0001t0018g0137 a0001c0001t0021g0206 a0001c0001t0021g0221 a0001c0001t0021g0242 a0001c0001t0024g0292 a0001c0001t0024g0299 a0001c0001t0025g0143 a0001c0001t0027g0129 a0001c0001t0031g0012 a0001c0001t0032g0195 a0001c0001t0032g0209 a0001c0001t0036g0300 a0001c0001t0042g0160 a0001c0001t0044g0016 a0001c0001t0045g0040 a0001c0001t0059g0041 a0001c0001t0060g0163 a0001c0001t0063g0253 a0001c0001t0064g0261 a0001c0001t0070g0210 a0001c0001t0075g0202 a0001c0001t0076g0182 a0001c0003t0001g0070 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0138 a0001c0003t0001g0146 a0001c0003t0001g0331 a0001c0003t0001g0335 a0001c0003t0001g0336 a0001c0003t0001g0338 a0001c0003t0001g0341 a0001c0003t0003g0291 a0001c0003t0004g0290 a0001c0003t0014g0036 a0001c0003t0014g0037 a0001c0003t0014g0038 a0001c0003t0026g0054 a0001c0003t0026g0354 a0001c0003t0031g0007 a0001c0004t0001g0091 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0004g0092 a0001c0006t0001g0047 a0001c0006t0027g0142 a0001c0015t0001g0315 a0002c0002t0002g0176 a0002c0002t0005g0198 a0002c0002t0005g0216 a0002c0002t0005g0224 a0002c0002t0005g0250 a0002c0002t0008g0071 a0002c0002t0008g0078 a0002c0002t0008g0116 a0002c0002t0008g0157 a0002c0002t0008g0162 a0002c0002t0008g0181 a0002c0002t0010g0004 a0002c0002t0010g0233 a0002c0002t0010g0246 a0002c0002t0013g0001 a0002c0002t0015g0028 a0002c0002t0015g0330 a0002c0002t0016g0284 a0002c0002t0019g0021 a0002c0002t0019g0042 a0002c0002t0019g0043 a0002c0002t0023g0223 a0002c0002t0049g0117 a0002c0002t0051g0077 a0002c0005t0005g0289 a0002c0005t0034g0055 a0002c0005t0034g0056 a0002c0007t0010g0244 a0002c0007t0010g0245 a0002c0008t0002g0326 a0002c0008t0005g0278 a0003c0014t0002g0319 a0004c0009t0008g0178 a0006c0012t0037g0293	119	360	0.3306	-1	c.413 others(6): Show c.413+6delG		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	4/19				INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1443639	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0284 a0002c0002t0016g0284	1	360	0.0028	0	c.780 others(5): Show c.780+4C>T		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	8/19					chr11	TogoVar
BRSK2_chr11_1384934_1467689	1445563	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0327 a0002c0002t0015g0327	1	360	0.0028	0	c.978 others(5): Show c.978-8C>T		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	10/19					chr11	TogoVar
BRWD1_chr21_39180482_39318632	39232503	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(72): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02135.hp2 HG02148.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG03041.hp1 HG03516.hp2 HG03654.hp2 HG03831.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18943.hp2 NA18953.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18990.hp2 NA18994.hp2 NA19003.hp2 NA19006.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19081.hp2 NA19087.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0008 a0001c0020 others(1): Show a0001c0001 a0001c0008 a0001c0020 a0009c0022	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0016 a0001c0001t0045 a0001c0001t0046 a0001c0001t0061 a0001c0001t0062 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0071 a0001c0001t0074 a0001c0001t0075 a0001c0008t0003 a0001c0020t0003 a0009c0022t0004	a0001c0001t0002g0042 a0001c0001t0003g0270 a0001c0001t0003g0291 others(72): Show a0001c0001t0002g0042 a0001c0001t0003g0270 a0001c0001t0003g0291 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0322 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0004g0257 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0292 a0001c0001t0015g0252 a0001c0001t0015g0253 a0001c0001t0015g0254 a0001c0001t0015g0255 a0001c0001t0016g0335 a0001c0001t0045g0188 a0001c0001t0046g0171 a0001c0001t0061g0265 a0001c0001t0062g0280 a0001c0001t0064g0258 a0001c0001t0065g0259 a0001c0001t0066g0310 a0001c0001t0068g0309 a0001c0001t0071g0321 a0001c0001t0074g0338 a0001c0001t0075g0271 a0001c0008t0003g0300 a0001c0008t0003g0316 a0001c0008t0003g0319 a0001c0008t0003g0327 a0001c0020t0003g0326 a0009c0022t0004g0256	75	338	0.2219	0	c.276 others(6): Show c.2767-5G>C		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	23/40					chr21	TogoVar
BRWD1_chr21_39180482_39318632	39278744	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01167.hp2 HG01175.hp1 HG01891.hp1 others(17): Show HG01167.hp2 HG01175.hp1 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp2 NA18522.hp1 NA19030.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0031 a0003c0005t0033 others(2): Show a0003c0005t0007 a0003c0005t0031 a0003c0005t0033 a0003c0005t0043 a0003c0005t0044	a0003c0005t0007g0100 a0003c0005t0007g0101 a0003c0005t0007g0102 others(17): Show a0003c0005t0007g0100 a0003c0005t0007g0101 a0003c0005t0007g0102 a0003c0005t0007g0103 a0003c0005t0007g0104 a0003c0005t0007g0105 a0003c0005t0007g0106 a0003c0005t0007g0107 a0003c0005t0007g0108 a0003c0005t0007g0109 a0003c0005t0007g0110 a0003c0005t0007g0111 a0003c0005t0007g0112 a0003c0005t0007g0113 a0003c0005t0007g0116 a0003c0005t0007g0117 a0003c0005t0031g0114 a0003c0005t0033g0115 a0003c0005t0043g0179 a0003c0005t0044g0180	20	338	0.0592	0	c.100 others(4): Show c.1002T>C	p.Val others(6): Show p.Val334Val	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	10/41	1143/17728	1002/6810	334/2269		chr21	TogoVar
BRWD1_chr21_39180482_39318632	39312834	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0177 a0001c0001t0013g0177	1	338	0.0030	0	c.198 others(5): Show c.198+7A>G		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	4/40					chr21	TogoVar
BRWD3_chrX_80664503_80814877	80688070	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0009 a0003c0010 a0004c0005 a0005c0008 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(162): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0096 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0002t0009 a0001c0002t0034 a0001c0002t0054 a0001c0002t0097 a0001c0002t0123 a0001c0004t0103 a0001c0004t0108 a0001c0007t0018 a0001c0009t0095 a0003c0010t0003 a0004c0005t0006 a0005c0008t0041 a0006c0006t0109	a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 others(259): Show a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0005g0112 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0006g0036 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0006g0044 a0001c0001t0007g0060 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0007g0069 a0001c0001t0007g0070 a0001c0001t0008g0123 a0001c0001t0008g0124 a0001c0001t0008g0125 a0001c0001t0008g0126 a0001c0001t0008g0127 a0001c0001t0009g0057 a0001c0001t0009g0058 a0001c0001t0009g0059 a0001c0001t0010g0078 a0001c0001t0010g0083 a0001c0001t0010g0089 a0001c0001t0010g0090 a0001c0001t0011g0101 a0001c0001t0011g0102 a0001c0001t0011g0103 a0001c0001t0011g0104 a0001c0001t0012g0148 a0001c0001t0012g0149 a0001c0001t0012g0150 a0001c0001t0012g0151 a0001c0001t0013g0018 a0001c0001t0013g0019 a0001c0001t0013g0021 a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 a0001c0001t0015g0061 a0001c0001t0015g0064 a0001c0001t0015g0065 a0001c0001t0016g0075 a0001c0001t0016g0076 a0001c0001t0016g0088 a0001c0001t0017g0098 a0001c0001t0017g0099 a0001c0001t0017g0105 a0001c0001t0018g0108 a0001c0001t0018g0110 a0001c0001t0020g0136 a0001c0001t0020g0137 a0001c0001t0020g0139 a0001c0001t0021g0141 a0001c0001t0021g0142 a0001c0001t0021g0143 a0001c0001t0022g0156 a0001c0001t0022g0158 a0001c0001t0022g0159 a0001c0001t0023g0194 a0001c0001t0023g0196 a0001c0001t0023g0197 a0001c0001t0024g0225 a0001c0001t0024g0232 a0001c0001t0024g0233 a0001c0001t0025g0020 a0001c0001t0025g0022 a0001c0001t0026g0023 a0001c0001t0026g0024 a0001c0001t0027g0031 a0001c0001t0027g0033 a0001c0001t0028g0028 a0001c0001t0028g0030 a0001c0001t0029g0046 a0001c0001t0029g0047 a0001c0001t0030g0051 a0001c0001t0030g0052 a0001c0001t0031g0092 a0001c0001t0031g0093 a0001c0001t0032g0094 a0001c0001t0032g0095 a0001c0001t0033g0111 a0001c0001t0033g0113 a0001c0001t0034g0115 a0001c0001t0035g0154 a0001c0001t0035g0155 a0001c0001t0036g0176 a0001c0001t0036g0177 a0001c0001t0037g0186 a0001c0001t0037g0187 a0001c0001t0038g0200 a0001c0001t0038g0201 a0001c0001t0039g0202 a0001c0001t0039g0203 a0001c0001t0040g0244 a0001c0001t0040g0248 a0001c0001t0041g0264 a0001c0001t0042g0001 a0001c0001t0043g0002 a0001c0001t0044g0003 a0001c0001t0045g0004 a0001c0001t0046g0005 a0001c0001t0047g0006 a0001c0001t0048g0007 a0001c0001t0049g0008 a0001c0001t0050g0009 a0001c0001t0051g0010 a0001c0001t0052g0013 a0001c0001t0053g0012 a0001c0001t0055g0014 a0001c0001t0056g0016 a0001c0001t0057g0015 a0001c0001t0058g0017 a0001c0001t0059g0025 a0001c0001t0060g0026 a0001c0001t0061g0027 a0001c0001t0062g0029 a0001c0001t0063g0032 a0001c0001t0064g0034 a0001c0001t0065g0035 a0001c0001t0066g0045 a0001c0001t0067g0050 a0001c0001t0068g0049 a0001c0001t0069g0048 a0001c0001t0070g0053 a0001c0001t0071g0054 a0001c0001t0072g0055 a0001c0001t0073g0071 a0001c0001t0074g0063 a0001c0001t0075g0062 a0001c0001t0076g0072 a0001c0001t0077g0073 a0001c0001t0078g0074 a0001c0001t0079g0085 a0001c0001t0080g0077 a0001c0001t0081g0091 a0001c0001t0082g0097 a0001c0001t0083g0096 a0001c0001t0084g0100 a0001c0001t0085g0106 a0001c0001t0086g0107 a0001c0001t0087g0122 a0001c0001t0088g0128 a0001c0001t0089g0129 a0001c0001t0090g0130 a0001c0001t0091g0131 a0001c0001t0092g0140 a0001c0001t0093g0138 a0001c0001t0094g0135 a0001c0001t0096g0144 a0001c0001t0098g0147 a0001c0001t0099g0152 a0001c0001t0100g0153 a0001c0001t0101g0157 a0001c0001t0102g0160 a0001c0001t0104g0162 a0001c0001t0105g0163 a0001c0001t0106g0164 a0001c0001t0107g0165 a0001c0001t0110g0168 a0001c0001t0111g0169 a0001c0001t0112g0170 a0001c0001t0113g0171 a0001c0001t0114g0172 a0001c0001t0115g0173 a0001c0001t0116g0174 a0001c0001t0117g0175 a0001c0001t0118g0178 a0001c0001t0119g0179 a0001c0001t0120g0180 a0001c0001t0121g0181 a0001c0001t0122g0182 a0001c0001t0124g0184 a0001c0001t0125g0185 a0001c0001t0126g0188 a0001c0001t0127g0189 a0001c0001t0128g0190 a0001c0001t0129g0191 a0001c0001t0130g0192 a0001c0001t0131g0193 a0001c0001t0132g0195 a0001c0001t0133g0198 a0001c0001t0134g0199 a0001c0001t0135g0205 a0001c0001t0136g0204 a0001c0001t0137g0206 a0001c0001t0138g0216 a0001c0001t0139g0215 a0001c0001t0140g0217 a0001c0001t0141g0218 a0001c0001t0142g0219 a0001c0001t0143g0228 a0001c0001t0144g0223 a0001c0001t0145g0238 a0001c0001t0146g0249 a0001c0001t0147g0250 a0001c0001t0148g0251 a0001c0001t0149g0252 a0001c0001t0150g0253 a0001c0001t0151g0254 a0001c0001t0152g0255 a0001c0001t0153g0256 a0001c0001t0154g0257 a0001c0001t0155g0258 a0001c0001t0156g0259 a0001c0001t0157g0260 a0001c0001t0158g0261 a0001c0001t0159g0262 a0001c0001t0160g0265 a0001c0002t0009g0056 a0001c0002t0034g0114 a0001c0002t0054g0011 a0001c0002t0097g0146 a0001c0002t0123g0183 a0001c0004t0103g0161 a0001c0004t0108g0166 a0001c0007t0018g0109 a0001c0009t0095g0145 a0003c0010t0003g0247 a0004c0005t0006g0037 a0005c0008t0041g0263 a0006c0006t0109g0167	262	265	0.9887	0	c.386 others(4): Show c.3863A>G	p.Lys others(7): Show p.Lys1288Arg	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	34/41	4269/12921	3863/5409	1288/1802		chrX	TogoVar
BRWD3_chrX_80664503_80814877	80728905	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0095 a0001c0009t0095	a0001c0009t0095g0145 a0001c0009t0095g0145	1	265	0.0038	0	c.123 others(4): Show c.1233C>T	p.Gly others(6): Show p.Gly411Gly	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	14/41	1639/12921	1233/5409	411/1802		chrX	TogoVar
BRWD3_chrX_80664503_80814877	80735989	T T	TA TA	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19086.hp1 NA19086.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0247 a0003c0010t0003g0247	1	265	0.0038	1	c.912 others(4): Show c.912dupT	p.Arg others(5): Show p.Arg305fs	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	9/41	1318/12921	912/5409	304/1802		chrX	TogoVar
BRWD3_chrX_80664503_80814877	80736091	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0110 a0001c0001t0018g0110	1	265	0.0038	1	c.814 others(6): Show c.814-4dupT		BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	8/40					chrX	TogoVar
BRWD3_chrX_80664503_80814877	80736091	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0146 a0001c0001t0146	a0001c0001t0146g0249 a0001c0001t0146g0249	1	265	0.0038	-1	c.814 others(6): Show c.814-4delT		BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	8/40					chrX	TogoVar
BSCL2_chr11_62685275_62712424	62691276	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp1 HG02896.hp2 HG02897.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0052 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0052 a0003c0004t0001g0077 a0003c0004t0001g0078	3	330	0.0091	0	c.100 others(6): Show c.1005+4G>T		BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding	7/10					chr11	TogoVar
BSCL2_chr11_62685275_62712424	62700548	GGAGAATC others(3331): Show GGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGT GCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAA ATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTA ATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAG TTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATA CAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAG GAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTG AAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCT GTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCT TGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAG GTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCT TTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATA AATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAG CTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATA TTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGA TGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTG AAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACAT CATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGT TAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTAT AATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGT GAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGG GAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACAT GGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGT GGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCG CTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCA ATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAG AAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTC TAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAG TTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACAC CTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTC CTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCA TTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAA CCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAG TAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACC TCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGT GAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGG CCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTC TCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGAC ATTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGG TCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTC CATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCT TCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATG TGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACT TCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGA GATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTT GATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAAT CCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTT TAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACA AAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGAC GCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGC CAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCAT CTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTG ATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGG ATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAA ATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACG TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGG TTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGC GCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTT TCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCT GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCG GCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAA AAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTA AGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCT GTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGC AGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCA	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01952.hp2 HG01952.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0197 a0004c0008t0001g0197	1	330	0.0030	-3338	c.405 others(17): Show c.405-1337_486+1919del		BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding	3/11					chr11	TogoVar
BSG_chr19_567596_588493	577776	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19085.hp2 NA19085.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0148 a0009c0012t0001g0148	1	306	0.0033	0	c.70G others(2): Show c.70G>A	p.Gly others(5): Show p.Gly24Ser	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	2/9	109/1946	70/1158	24/385		chr19	TogoVar
BSG_chr19_567596_588493	582586	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03239.hp1 NA19082.hp2 HG03239.hp1 NA19082.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0022 a0004c0009t0003 a0004c0009t0022	a0004c0009t0003g0092 a0004c0009t0022g0091 a0004c0009t0003g0092 a0004c0009t0022g0091	2	306	0.0065	0	c.5+ others(4): Show c.5+4C>T		BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	8/8					chr19	TogoVar
BSND_chr1_54993933_55022172	55008213	GCCCCCTG others(4): Show GCCCCCTGGCCT	G G	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19055.hp2 NA19055.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0091 a0005c0007t0091	a0005c0007t0091g0029 a0005c0007t0091g0029	1	448	0.0022	-11	c.549 others(18): Show c.549_559delCCCCCTGGCCT	p.Pro others(5): Show p.Pro184fs	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	4/4	803/9761	549/963	183/320		chr1	TogoVar
BSPH1_chr19_47963046_47997170	47968211	TAACCCAA others(10): Show TAACCCAAAGAACAGAAG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0102 a0001c0001t0005g0102	1	444	0.0023	-17	c.3- others(27): Show c.3-19_*3-3delCTTCTGTTCTTTGGGTT		BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5					chr19	TogoVar
BSPRY_chr9_113344541_113376222	113354345	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01978.hp2 HG02257.hp2 NA19030.hp2 HG01978.hp2 HG02257.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0002 a0001c0005t0001 a0001c0005t0002	a0001c0005t0001g0279 a0001c0005t0001g0280 a0001c0005t0002g0281 a0001c0005t0001g0279 a0001c0005t0001g0280 a0001c0005t0002g0281	3	448	0.0067	0	c.300 others(5): Show c.300+7C>T		BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	2/5					chr9	TogoVar
BSPRY_chr9_113344541_113376222	113354346	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG01106.hp2 HG01261.hp2 others(22): Show HG00140.hp2 HG01106.hp2 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG02145.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp2 HG02735.hp2 HG02809.hp2 HG03041.hp2 HG03195.hp2 HG03688.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18986.hp1 NA18987.hp2 NA19065.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0005c0015	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0005 a0001c0002t0010 a0001c0002t0018 a0001c0002t0033 a0001c0005t0004 a0001c0005t0031 a0002c0003t0010 a0005c0015t0010	a0001c0001t0001g0046 a0001c0001t0001g0212 a0001c0001t0001g0215 others(17): Show a0001c0001t0001g0046 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0005g0045 a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0002t0005g0021 a0001c0002t0010g0021 a0001c0002t0010g0219 a0001c0002t0018g0021 a0001c0002t0018g0047 a0001c0002t0033g0222 a0001c0005t0004g0013 a0001c0005t0004g0221 a0001c0005t0031g0213 a0002c0003t0010g0211 a0005c0015t0010g0047	25	448	0.0558	0	c.300 others(5): Show c.300+8C>A		BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	2/5					chr9	TogoVar
BSPRY_chr9_113344541_113376222	113354346	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(192): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18944.hp1 NA18948.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009	a0001c0001 a0001c0002 a0001c0005 others(9): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0002c0003 a0003c0004 a0003c0008 a0004c0010 a0006c0012 a0007c0014 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0001t0032 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0014 a0001c0002t0016 a0001c0002t0017 a0001c0002t0019 a0001c0002t0026 a0001c0002t0030 a0001c0005t0001 a0001c0005t0002 a0001c0005t0017 a0001c0006t0002 a0001c0007t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 a0002c0003t0008 a0002c0003t0010 a0002c0003t0013 a0002c0003t0029 a0003c0004t0002 a0003c0004t0003 a0003c0004t0005 a0003c0004t0007 a0003c0004t0016 a0003c0004t0034 a0003c0008t0003 a0003c0008t0016 a0004c0010t0003 a0006c0012t0004 a0007c0014t0002 a0009c0009t0001	a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0064 others(168): Show a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0064 a0001c0001t0001g0236 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0002g0004 a0001c0001t0002g0050 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0004g0020 a0001c0001t0004g0025 a0001c0001t0004g0060 a0001c0001t0004g0062 a0001c0001t0004g0203 a0001c0001t0004g0249 a0001c0001t0004g0300 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0005g0022 a0001c0001t0005g0061 a0001c0001t0005g0223 a0001c0001t0005g0228 a0001c0001t0005g0231 a0001c0001t0005g0233 a0001c0001t0005g0237 a0001c0001t0005g0240 a0001c0001t0005g0244 a0001c0001t0005g0259 a0001c0001t0005g0273 a0001c0001t0005g0308 a0001c0001t0006g0288 a0001c0001t0006g0292 a0001c0001t0008g0022 a0001c0001t0008g0294 a0001c0001t0009g0020 a0001c0001t0009g0062 a0001c0001t0009g0199 a0001c0001t0009g0201 a0001c0001t0009g0202 a0001c0001t0009g0205 a0001c0001t0009g0305 a0001c0001t0009g0313 a0001c0001t0009g0317 a0001c0001t0011g0064 a0001c0001t0020g0311 a0001c0001t0021g0258 a0001c0001t0032g0025 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0001g0206 a0001c0002t0001g0277 a0001c0002t0001g0295 a0001c0002t0002g0023 a0001c0002t0002g0044 a0001c0002t0002g0057 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0251 a0001c0002t0003g0252 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0257 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0265 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0274 a0001c0002t0003g0275 a0001c0002t0004g0197 a0001c0002t0004g0207 a0001c0002t0005g0253 a0001c0002t0006g0057 a0001c0002t0006g0195 a0001c0002t0006g0278 a0001c0002t0006g0304 a0001c0002t0007g0250 a0001c0002t0007g0263 a0001c0002t0007g0266 a0001c0002t0009g0208 a0001c0002t0009g0210 a0001c0002t0014g0014 a0001c0002t0016g0264 a0001c0002t0017g0204 a0001c0002t0019g0014 a0001c0002t0026g0198 a0001c0002t0030g0282 a0001c0005t0001g0193 a0001c0005t0001g0276 a0001c0005t0001g0279 a0001c0005t0001g0280 a0001c0005t0002g0187 a0001c0005t0002g0192 a0001c0005t0002g0209 a0001c0005t0002g0281 a0001c0005t0017g0188 a0001c0006t0002g0200 a0001c0006t0002g0287 a0001c0007t0003g0056 a0001c0007t0003g0267 a0001c0007t0003g0268 a0001c0007t0003g0269 a0002c0003t0001g0059 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0002g0028 a0002c0003t0002g0245 a0002c0003t0002g0246 a0002c0003t0002g0247 a0002c0003t0002g0293 a0002c0003t0002g0301 a0002c0003t0002g0302 a0002c0003t0005g0297 a0002c0003t0005g0303 a0002c0003t0006g0004 a0002c0003t0006g0058 a0002c0003t0006g0059 a0002c0003t0006g0285 a0002c0003t0006g0286 a0002c0003t0006g0289 a0002c0003t0006g0296 a0002c0003t0006g0307 a0002c0003t0007g0004 a0002c0003t0007g0306 a0002c0003t0008g0291 a0002c0003t0008g0298 a0002c0003t0010g0290 a0002c0003t0010g0299 a0002c0003t0013g0058 a0002c0003t0029g0028 a0003c0004t0002g0224 a0003c0004t0002g0234 a0003c0004t0003g0006 a0003c0004t0003g0048 a0003c0004t0003g0049 a0003c0004t0003g0051 a0003c0004t0003g0052 a0003c0004t0003g0230 a0003c0004t0003g0232 a0003c0004t0003g0235 a0003c0004t0003g0238 a0003c0004t0003g0241 a0003c0004t0003g0242 a0003c0004t0003g0243 a0003c0004t0005g0006 a0003c0004t0007g0006 a0003c0004t0007g0051 a0003c0004t0007g0227 a0003c0004t0007g0229 a0003c0004t0007g0239 a0003c0004t0007g0248 a0003c0004t0016g0226 a0003c0004t0034g0225 a0003c0008t0003g0260 a0003c0008t0016g0256 a0004c0010t0003g0048 a0006c0012t0004g0063 a0007c0014t0002g0283 a0009c0009t0001g0063	195	448	0.4353	0	c.300 others(5): Show c.300+8C>G		BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	2/5					chr9	TogoVar

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