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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
BMPR1B_chr4_94752955_95163448	94937717	C C	CACACACA others(25): Show CACACACACAGACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02630.hp1 others(9): Show HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG03209.hp1 HG03471.hp1 HG03540.hp2 NA18522.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0044 a0001c0001t0051 a0001c0002t0021 a0002c0003t0017	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0218 others(9): Show a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0218 a0001c0001t0002g0224 a0001c0001t0020g0130 a0001c0001t0023g0038 a0001c0001t0023g0216 a0001c0001t0024g0133 a0001c0001t0044g0086 a0001c0001t0051g0135 a0001c0002t0021g0217 a0002c0003t0017g0131	12	226	0.0531	32	c.-11 others(53): Show c.-112-58322_-112-58321insCACACACAGACACACACACACACA CACACAGA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95026098	A A	ATTTCTTT others(25): Show ATTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	226	0.0044	32	c.-18 others(51): Show c.-18+29976_-18+29977insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95026098	A A	ATTTCTTT others(25): Show ATTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19007.hp1 NA18944.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0076 a0001c0001t0001g0057 a0001c0001t0001g0076	2	226	0.0089	32	c.-18 others(51): Show c.-18+29991_-18+29992insTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95120610	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19043.hp2 NA21309.hp2 HG03041.hp1 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0017 a0001c0001t0050 a0001c0001t0008 a0001c0001t0017 a0001c0001t0050	a0001c0001t0008g0041 a0001c0001t0017g0039 a0001c0001t0050g0020 a0001c0001t0008g0041 a0001c0001t0017g0039 a0001c0001t0050g0020	3	226	0.0133	32	c.350 others(49): Show c.350-3189_350-3158dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR2_chr2_202371327_202572749	202379838	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0010 a0001c0001t0019g0011 a0001c0001t0019g0010 a0001c0001t0019g0011	2	224	0.0089	32	c.76+ others(47): Show c.76+2319_76+2320insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0051 a0001c0002t0002g0051	1	224	0.0045	32	c.77- others(49): Show c.77-29900_77-29899insAATATATATATATATATATATATATATA TATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BNC2_chr9_16404503_16875670	16504270	A A	ATAATACA others(25): Show ATAATACATGTATTCCAGAATGAATACATGTAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01192.hp1 HG02055.hp1 others(17): Show HG01099.hp2 HG01192.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02559.hp1 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03669.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(11): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0028 a0001c0001t0032 a0001c0001t0041 a0001c0001t0071 a0001c0001t0083	a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0007g0065 others(17): Show a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0007g0065 a0001c0001t0007g0085 a0001c0001t0007g0158 a0001c0001t0008g0174 a0001c0001t0013g0140 a0001c0001t0013g0144 a0001c0001t0014g0032 a0001c0001t0018g0172 a0001c0001t0020g0079 a0001c0001t0020g0081 a0001c0001t0021g0064 a0001c0001t0024g0133 a0001c0001t0028g0033 a0001c0001t0028g0114 a0001c0001t0032g0076 a0001c0001t0041g0148 a0001c0001t0071g0074 a0001c0001t0083g0004	20	176	0.1136	32	c.669 others(51): Show c.669+48228_669+48259dupATACATGTATTCATTCTGGAATACAT GTATTA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16616790	G G	GGGAAGGA others(25): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0033 a0001c0001t0028g0033	1	176	0.0057	32	c.331 others(51): Show c.331-33706_331-33705insTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCC	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BOC_chr3_113206557_113292459	113236286	A A	ATATATAT others(25): Show ATATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG03225.hp2 others(1): Show HG02630.hp2 HG02717.hp1 HG03225.hp2 NA19043.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0031 a0001c0013t0039 a0001c0013t0044 a0001c0013t0031 a0001c0013t0039 a0001c0013t0044	a0001c0013t0031g0198 a0001c0013t0031g0199 a0001c0013t0039g0186 others(1): Show a0001c0013t0031g0198 a0001c0013t0031g0199 a0001c0013t0039g0186 a0001c0013t0044g0200	4	386	0.0104	32	c.-81 others(51): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOK_chr2_241553745_241579131	241558052	G G	GAAACAGA others(25): Show GAAACAGACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01981.hp1 NA19030.hp1 others(1): Show HG00642.hp2 HG01981.hp1 NA19030.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0010 a0001c0001t0018 others(1): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0018 a0001c0002t0009	a0001c0001t0005g0274 a0001c0001t0010g0006 a0001c0001t0018g0078 others(1): Show a0001c0001t0005g0274 a0001c0001t0010g0006 a0001c0001t0018g0078 a0001c0002t0009g0061	4	434	0.0092	32	c.-97 others(41): Show c.-971_-970insAAACAGACACACACACACACACACACACACAC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding		692		chr2	TogoVar
BOLA2B_chr16_30187932_30198666	30190179	T T	TATATATT others(25): Show TATATATTTTAATATATAAATATATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	254	0.0039	32	c.27 others(43): Show c.2795_*2796insTATATATAATATATTTATATATTAAAATATAT	BOLA2B	ENSG00000169627.9	transcript	ENST00000651894.2	protein_coding		2752		chr16	TogoVar
BOLA2_chr16_29448593_29459351	29450836	A A	ATATATAT others(25): Show ATATATATTATATATTTTAATATATAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	174	0.0058	32	c.27 others(43): Show c.2796_*2797insATATATTTATATATTAAAATATATAATATATA	BOLA2	ENSG00000183336.9	transcript	ENST00000330978.4	protein_coding		2756		chr16	TogoVar
BOP1_chr8_144257045_144296438	144262743	A A	ACACCCCT others(25): Show ACACCCCTCACCTGCAGGGTGCACCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0163 a0001c0003t0001g0163	1	398	0.0025	32	c.189 others(47): Show c.1895-72_1895-71insGGGGGGGTGGTGCACCCTGCAGGTGAGGGG TG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144262743	A A	ACACCCCT others(25): Show ACACCCCTCACCTGCAGGGTGCACCGCCCCCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02109.hp2 others(11): Show HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02647.hp1 HG02683.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03492.hp1 HG03516.hp1 HG04199.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0003c0005	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0008t0001 a0003c0005t0001	a0001c0001t0001g0325 a0001c0003t0001g0152 a0001c0003t0001g0162 others(11): Show a0001c0001t0001g0325 a0001c0003t0001g0152 a0001c0003t0001g0162 a0001c0003t0001g0164 a0001c0006t0001g0166 a0001c0006t0001g0167 a0001c0006t0001g0181 a0001c0008t0001g0373 a0001c0008t0001g0375 a0003c0005t0001g0022 a0003c0005t0001g0023 a0003c0005t0001g0024 a0003c0005t0001g0025 a0003c0005t0001g0026	14	398	0.0352	32	c.189 others(47): Show c.1895-72_1895-71insGGGGGGGCGGTGCACCCTGCAGGTGAGGGG TG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144262804	C C	CCCCCCCC others(25): Show CCCCCCCCCACCCCTCACCTGCAGGGTACACCG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02257.hp2 HG02280.hp1 others(14): Show HG01123.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02683.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03540.hp1 NA19043.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0010t0001 a0002c0004t0001	a0001c0001t0001g0050 a0001c0001t0001g0205 a0001c0002t0001g0003 others(13): Show a0001c0001t0001g0050 a0001c0001t0001g0205 a0001c0002t0001g0003 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0003t0001g0162 a0001c0006t0001g0181 a0001c0010t0001g0040 a0002c0004t0001g0051 a0002c0004t0001g0186 a0002c0004t0001g0318	17	398	0.0427	32	c.189 others(47): Show c.1894+48_1894+49insCGGTGTACCCTGCAGGTGAGGGGTGGGGGG GG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144262805	C C	CCCCCCCC others(25): Show CCCCCCCCAACCCCTCACCTGCAGGGTACACCG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	398	0.0025	32	c.189 others(47): Show c.1894+47_1894+48insCGGTGTACCCTGCAGGTGAGGGGTTGGGGG GG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BORA_chr13_72722923_72761196	72724752	A A	ATATATAT others(25): Show ATATATATATATATATATATATGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	388	0.0026	32	c.-32 others(43): Show c.-3271_-3270insTATATATATATATATATATATGTGTGTGTGTG	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		3170		chr13	TogoVar
BPIFA1_chr20_33230996_33248306	33231141	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGAAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 NA19030.hp1 HG02630.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0074 a0001c0001t0004g0021 a0001c0001t0004g0074	2	382	0.0052	32	c.-49 others(43): Show c.-4925_-4924insGAAGGAAGGAAGGAAGGAAGGAAGAAAGGAAG	BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding		4854		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231141	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGAAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 NA19030.hp1 HG02630.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0070 a0001c0001t0001g0016 a0001c0001t0001g0070	2	416	0.0048	32	c.35 others(43): Show c.3524_*3525insGAAGGAAGGAAGGAAGGAAGGAAGAAAGGAAG	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		3336		chr20	TogoVar
BPIFB1_chr20_33278214_33314871	33295662	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0001 a0014c0015t0001	a0014c0015t0001g0250 a0014c0015t0001g0250	1	388	0.0026	32	c.598 others(49): Show c.598-1844_598-1843insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	BPIFB1	ENSG00000125999.11	transcript	ENST00000253354.2	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFB1_chr20_33278214_33314871	33295681	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19030.hp1 HG02630.hp1 NA19030.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0044 a0008c0008t0001g0044	2	388	0.0052	32	c.598 others(49): Show c.598-1844_598-1843insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGG	BPIFB1	ENSG00000125999.11	transcript	ENST00000253354.2	protein_coding	6/15			chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33108423	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA18940.hp1 HG02683.hp2 NA18940.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0089 a0002c0002t0001g0082 a0002c0002t0001g0089	2	344	0.0058	32	c.182 others(49): Show c.1821+617_1821+618insTATATATATATATATATATATATATATA TATA	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(25): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01891.hp2 HG02486.hp1 HG01175.hp2 HG01891.hp2 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0052 a0002c0002t0001g0117 a0002c0002t0001g0004 a0002c0002t0001g0052 a0002c0002t0001g0117	3	426	0.0070	32	c.24 others(43): Show c.2454_*2455insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding		2134		chr20	TogoVar
BPNT2_chr8_56952931_56998867	56956044	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 NA18945.hp1 NA18979.hp2 HG02132.hp2 NA18945.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0192 a0001c0001t0002g0003 a0001c0001t0002g0192	3	356	0.0084	32	c.77 others(43): Show c.7748_*7749insATATATATATATATATATATATATATATATAT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding		1886		chr8	TogoVar
BPTF_chr17_67820503_67989378	67917130	C C	CATTGTCC others(25): Show CATTGTCCTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0009 a0002c0006t0002g0009	1	274	0.0037	32	c.530 others(51): Show c.5304-1584_5304-1583insATTGTCCTTTTTTTTTTTTTTTTTTT TTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27			chr17	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0015 a0015	a0015c0012 a0015c0012	a0015c0012t0002 a0015c0012t0002	a0015c0012t0002g0238 a0015c0012t0002g0238	1	274	0.0037	32	c.530 others(51): Show c.5304-1564_5304-1563insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAT1_chr7_2532810_2560524	2552081	A A	AATAAATA others(25): Show AATAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG04204.hp1 HG02300.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0266 a0001c0001t0001g0172 a0001c0001t0001g0266	2	424	0.0047	32	c.127 others(49): Show c.127+2223_127+2224insATATATATATATATATATATATATATAT TTAT	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03471.hp2 HG01346.hp1 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0148 a0004c0007t0001g0310 a0001c0001t0001g0148 a0004c0007t0001g0310	2	424	0.0047	32	c.127 others(49): Show c.127+2198_127+2199insAAAATATATATATATATATATATATATA TATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRCA2_chr13_32310508_32405268	32383102	C C	CTGTAATC others(25): Show CTGTAATCCAGCACTTTGGGAGGCCAAGGTGGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00597.hp1 others(102): Show HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01978.hp2 HG02055.hp1 HG02083.hp2 HG02129.hp2 HG02165.hp2 HG02280.hp1 HG02523.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03490.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp2 NA20129.hp1	a0001 a0003 a0007 others(6): Show a0001 a0003 a0007 a0013 a0016 a0021 a0033 a0036 a0037	a0001c0001 a0003c0005 a0007c0008 others(6): Show a0001c0001 a0003c0005 a0007c0008 a0013c0020 a0016c0022 a0021c0044 a0033c0029 a0036c0026 a0037c0027	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0003c0005t0003 a0007c0008t0001 a0007c0008t0009 a0013c0020t0001 a0016c0022t0001 a0016c0022t0022 a0021c0044t0001 a0033c0029t0001 a0036c0026t0001 a0037c0027t0013	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 others(98): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0008g0055 a0001c0001t0008g0056 a0001c0001t0008g0063 a0001c0001t0008g0064 a0001c0001t0008g0278 a0001c0001t0008g0290 a0001c0001t0008g0291 a0001c0001t0008g0293 a0001c0001t0008g0349 a0001c0001t0008g0363 a0001c0001t0009g0061 a0001c0001t0009g0066 a0001c0001t0009g0067 a0001c0001t0009g0068 a0001c0001t0009g0069 a0001c0001t0009g0139 a0001c0001t0009g0292 a0001c0001t0013g0062 a0001c0001t0013g0187 a0001c0001t0013g0188 a0001c0001t0013g0250 a0001c0001t0013g0256 a0003c0005t0003g0030 a0007c0008t0001g0001 a0007c0008t0001g0245 a0007c0008t0001g0246 a0007c0008t0001g0251 a0007c0008t0001g0253 a0007c0008t0009g0003 a0013c0020t0001g0368 a0013c0020t0001g0369 a0016c0022t0001g0228 a0016c0022t0022g0229 a0021c0044t0001g0254 a0033c0029t0001g0263 a0036c0026t0001g0001 a0037c0027t0013g0205	105	398	0.2638	32	c.925 others(51): Show c.9256+2960_9256+2991dupTAATCCAGCACTTTGGGAGGCCAAGG TGGGTG	BRCA2	ENSG00000139618.18	transcript	ENST00000380152.8	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
BRDT_chr1_91944401_92019421	91945279	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	318	0.0031	32	c.-44 others(43): Show c.-4441_-4440insATATATATATATATATATATATATATATATAT	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding		4121		chr1	TogoVar
BRI3BP_chr12_124988645_125036231	124997214	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19003.hp2 HG02074.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0132 a0001c0001t0001g0133	2	410	0.0049	32	c.213 others(49): Show c.213+3230_213+3231insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRINP1_chr9_119161629_119374435	119367221	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03130.hp2 HG03831.hp1 others(3): Show HG00423.hp1 HG03130.hp2 HG03831.hp1 HG04184.hp1 NA18966.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0176 others(3): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0176 a0001c0002t0001g0119 a0001c0002t0004g0118 a0001c0003t0001g0042	6	236	0.0254	32	c.-51 others(49): Show c.-51+1834_-51+1835insATATATATATATATATATATATATATAT ATAT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRINP3_chr1_190092658_190482864	190277087	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	240	0.0042	32	c.427 others(49): Show c.427+4472_427+4473insTATATATATATATATATATATATATATA TATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190277113	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	240	0.0042	32	c.427 others(49): Show c.427+4446_427+4447insAATATATATATATATATATATATATATA TATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190396713	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	240	0.0042	32	c.236 others(51): Show c.236+57941_236+57942insATATATATATATATATATATATATAT ATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRINP3_chr1_190092658_190482864	190482431	C C	CGTGTATA others(25): Show CGTGTATATATACATATATATACACGTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0045 a0001c0001t0001g0048	2	240	0.0083	32	c.-50 others(43): Show c.-5035_-5034insATATATACGTGTATATATATGTATATATACAC	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding		4568		chr1	TogoVar
BRINP3_chr1_190092658_190482864	190482456	A A	ATATATAC others(25): Show ATATATACGTGTATATATACATATATATACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA20129.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0120 a0001c0001t0001g0121	2	240	0.0083	32	c.-50 others(43): Show c.-5060_-5059insCGTGTATATATATGTATATATACACGTATATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding		4593		chr1	TogoVar
BRK1_chr3_10110675_10132190	10123732	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG01891.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0109 a0001c0001t0001g0117	2	356	0.0056	32	c.119 others(49): Show c.119-1873_119-1872insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRSK2_chr11_1384934_1467689	1423659	C C	CTGCCCCA others(25): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	360	0.0028	32	c.92- others(49): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423667	A A	AGCCTCCC others(25): Show AGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp1 HG01496.hp2 others(1): Show HG01175.hp2 HG01243.hp1 HG01496.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0005 a0002c0002t0015	a0001c0001t0001g0130 a0001c0001t0004g0051 a0002c0002t0005g0276 others(1): Show a0001c0001t0001g0130 a0001c0001t0004g0051 a0002c0002t0005g0276 a0002c0002t0015g0027	4	360	0.0111	32	c.92- others(49): Show c.92-12231_92-12200dupGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423667	A A	AGCCTCCC others(25): Show AGCCTCCCCCGCTGTGCGTTCCGGGTGCCCCAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0039 a0001c0001t0014g0039	1	360	0.0028	32	c.92- others(49): Show c.92-12360_92-12359insTGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1441223	A A	ACTACCCC others(25): Show ACTACCCCTCAAGTGCACCATCCCCCCCATTAG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02145.hp1 HG01943.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0052 a0001c0001t0001g0053	2	360	0.0056	32	c.413 others(47): Show c.413+313_413+314insATCCCCCCCATTAGCTACCCCTCAAGTGCA CC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1441353	G G	GGCCCCTC others(25): Show GGCCCCTCAAGTGCACCGTGCCCCCCATTAGCT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0171 a0002c0002t0030g0171	1	360	0.0028	32	c.413 others(47): Show c.413+441_413+472dupCGTGCCCCCCATTAGCTGCCCCTCAAGTGC AC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1466268	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18969.hp2 NA18993.hp2 others(2): Show NA18940.hp2 NA18969.hp2 NA18993.hp2 NA19012.hp2 NA19068.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0004 a0001c0004t0001 a0001c0004t0004	a0001c0004t0001g0091 a0001c0004t0001g0094 a0001c0004t0001g0095 others(2): Show a0001c0004t0001g0091 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0004g0092	5	360	0.0139	32	c.55 others(43): Show c.5545_*5546insACACACACACACACACACACACACACACACAC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding		3580		chr11	TogoVar
BRWD1_chr21_39180482_39318632	39244921	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0057 a0004c0003t0057	a0004c0003t0057g0151 a0004c0003t0057g0151	1	338	0.0030	32	c.248 others(51): Show c.2481+2779_2481+2780insATATATATATATATATATATATATAT ATATAT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	21/40			chr21	TogoVar
BRWD3_chrX_80664503_80814877	80700433	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG01891.hp1 others(26): Show HG00438.hp2 HG00609.hp1 HG01891.hp1 HG02027.hp1 HG02040.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02615.hp2 HG02717.hp1 HG02965.hp1 HG03041.hp2 HG03195.hp2 HG03942.hp1 NA18947.hp2 NA18951.hp1 NA18973.hp1 NA18977.hp1 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA18994.hp1 NA19009.hp1 NA19011.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19091.hp1 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0032 a0001c0001t0037 a0001c0001t0040 a0001c0001t0049 a0001c0001t0063 a0001c0001t0069 a0001c0001t0083 a0001c0001t0096 a0001c0001t0130 a0001c0001t0136 a0001c0001t0137 a0001c0001t0139 a0001c0001t0142 a0001c0001t0149 a0001c0001t0160 a0001c0002t0123 a0001c0009t0095 a0005c0008t0041	a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0226 others(26): Show a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0002g0209 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0032g0094 a0001c0001t0032g0095 a0001c0001t0037g0186 a0001c0001t0037g0187 a0001c0001t0040g0248 a0001c0001t0049g0008 a0001c0001t0063g0032 a0001c0001t0069g0048 a0001c0001t0083g0096 a0001c0001t0096g0144 a0001c0001t0130g0192 a0001c0001t0136g0204 a0001c0001t0137g0206 a0001c0001t0139g0215 a0001c0001t0142g0219 a0001c0001t0149g0252 a0001c0001t0160g0265 a0001c0002t0123g0183 a0001c0009t0095g0145 a0005c0008t0041g0263	29	265	0.1094	32	c.283 others(49): Show c.2836-370_2836-369insATATATATATATATATATATATATATAT ATAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	24/40			chrX	TogoVar
BSG_chr19_567596_588493	581060	G G	GGGTGAGG others(25): Show GGGTGAGGGGCGTAGACTGGGGGGTCCCGGACC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	306	0.0033	32	c.793 others(47): Show c.793-255_793-254insGGTGAGGGGCGTAGACTGGGGGGTCCCGGA CC	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	5/8			chr19	TogoVar
BSG_chr19_567596_588493	581060	G G	GGGTGAGG others(25): Show GGGTGAGGGGGCGTAGACTGGGGGTCCCGGACC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	306	0.0033	32	c.793 others(47): Show c.793-255_793-254insGGTGAGGGGGCGTAGACTGGGGGTCCCGGA CC	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	5/8			chr19	TogoVar
BSG_chr19_567596_588493	581204	C C	CTCCGGAC others(25): Show CTCCGGACTGGGTGAGGGGCCTAGACTGGGGGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG01891.hp2 others(6): Show HG01192.hp2 HG01243.hp1 HG01891.hp2 HG02071.hp2 HG02572.hp1 HG02818.hp2 HG02896.hp1 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0019 a0001c0002t0001 a0001c0002t0019	a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 others(6): Show a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0121 a0001c0002t0001g0139 a0001c0002t0019g0090	9	306	0.0294	32	c.793 others(46): Show c.793-110_793-79dupTCCGGACTGGGTGAGGGGCCTAGACTGGGGG T	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA19001.hp2 NA19081.hp2 NA18984.hp1 NA19001.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0194 a0001c0001t0062 a0001c0001t0194	a0001c0001t0062g0004 a0001c0001t0194g0077 a0001c0001t0062g0004 a0001c0001t0194g0077	3	448	0.0067	32	c.-23 others(43): Show c.-2350_-2349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)