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
BOD1L1_chr4_13563738_13632725	13573442	G G	GTCTGTCT others(9): Show GTCTGTCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG04184.hp1 HG02886.hp1 HG04184.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0029 a0004c0004t0001g0093 a0001c0001t0001g0029 a0004c0004t0001g0093	2	258	0.0078	16	c.903 others(35): Show c.9039-3315_9039-3314insTAGATAGATAGACAGA	BOD1L1	ENSG00000038219.13	transcript	ENST00000040738.10	protein_coding	25/25			chr4	TogoVar
BOD1L1_chr4_13563738_13632725	13573470	A A	ATCTATCT others(9): Show ATCTATCTATCTATCTT	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0025 a0025	a0025c0025 a0025c0025	a0025c0025t0004 a0025c0025t0004	a0025c0025t0004g0023 a0025c0025t0004g0023	1	258	0.0039	16	c.903 others(35): Show c.9039-3343_9039-3342insAAGATAGATAGATAGA	BOD1L1	ENSG00000038219.13	transcript	ENST00000040738.10	protein_coding	25/25			chr4	TogoVar
BOP1_chr8_144257045_144296438	144283201	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01106.hp1 HG01192.hp1 others(5): Show HG00408.hp1 HG01106.hp1 HG01192.hp1 HG02145.hp2 HG02258.hp1 HG02970.hp1 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0222 a0001c0001t0001g0223 others(5): Show a0001c0001t0001g0081 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0342 a0001c0001t0001g0358	8	398	0.0201	16	c.309 others(33): Show c.309+5878_309+5893dupTTTTTTTTTTTTTTTT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BORA_chr13_72722923_72761196	72724739	T T	TATATATA others(9): Show TATATATATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0199 a0004c0009t0002g0199	1	388	0.0026	16	c.-32 others(27): Show c.-3284_-3283insATATATATATACACAC	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		3183		chr13	TogoVar
BORA_chr13_72722923_72761196	72724752	A A	ATATATAT others(9): Show ATATATATATATGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01346.hp1 HG02698.hp1 others(2): Show HG00099.hp1 HG01346.hp1 HG02698.hp1 HG04228.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0089 a0001c0001t0001g0091 others(2): Show a0001c0001t0001g0038 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0002g0040 a0001c0002t0001g0116	5	388	0.0129	16	c.-32 others(27): Show c.-3271_-3270insTATATATATATGTGTG	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		3170		chr13	TogoVar
BORA_chr13_72722923_72761196	72724752	A A	ATATATAT others(9): Show ATATATATGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02004.hp1 HG02071.hp1 others(10): Show HG00597.hp1 HG02004.hp1 HG02071.hp1 HG02132.hp2 HG02647.hp2 HG02809.hp1 NA18954.hp1 NA18970.hp1 NA18983.hp1 NA18984.hp1 NA19064.hp1 NA19086.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0127 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0127 a0001c0001t0001g0154 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0061 a0001c0001t0002g0065	13	388	0.0335	16	c.-32 others(27): Show c.-3271_-3270insTATATATGTGTGTGTG	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		3170		chr13	TogoVar
BORA_chr13_72722923_72761196	72724752	A A	ATATATGT others(9): Show ATATATGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	388	0.0026	16	c.-32 others(27): Show c.-3271_-3270insTATATGTGTGTGTGTG	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		3170		chr13	TogoVar
BORA_chr13_72722923_72761196	72724752	A A	ATATGTGT others(9): Show ATATGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02486.hp2 HG02280.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0169 a0001c0001t0001g0053 a0001c0001t0001g0169	2	388	0.0052	16	c.-32 others(27): Show c.-3271_-3270insTATGTGTGTGTGTGTG	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		3170		chr13	TogoVar
BORCS6_chr17_8183345_8195180	8186347	A A	AGTGGCCG others(9): Show AGTGGCCGGCCGACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	16	c.27 others(27): Show c.2719_*2720insGAGGTCGGCCGGCCAC	BORCS6	ENSG00000196544.8	transcript	ENST00000389017.6	protein_coding		1997		chr17	TogoVar
BORCS8_chr19_19171906_19197152	19177684	G G	GAAAAGAA others(9): Show GAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0199	1	428	0.0023	16	c.43 others(31): Show c.43-225_*43-224insTCTTTTCTTTTCTTTT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177692	G G	GAGAAAAG others(9): Show GAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	428	0.0023	16	c.43 others(31): Show c.43-233_*43-232insTTTTCTTTTCTTTTCT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPGM_chr7_134641853_134684816	134658892	A A	ATTTTTTT others(9): Show ATTTTTTTTATTTTTAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00597.hp1 others(90): Show HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG01081.hp2 HG01099.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01884.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp2 HG02970.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03831.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18992.hp2 NA18993.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19062.hp2 NA19064.hp1 NA19072.hp1 NA19072.hp2 NA19080.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0015 others(54): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0061 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0002g0006 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0004g0006 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0005g0041 a0001c0001t0005g0148 a0001c0001t0008g0105 a0001c0001t0011g0126 a0001c0001t0012g0125 a0001c0005t0001g0002	93	362	0.2569	16	c.-61 others(33): Show c.-61-2547_-61-2546insATTTTTATTTTTTTTT	BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
BPGM_chr7_134641853_134684816	134658892	A A	ATTTTTTT others(9): Show ATTTTTTTTATTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	362	0.0028	16	c.-61 others(33): Show c.-61-2547_-61-2546insATTTTTTTTTTTTTTT	BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
BPGM_chr7_134641853_134684816	134658892	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01109.hp1 others(38): Show HG00280.hp2 HG00733.hp2 HG01109.hp1 HG01169.hp2 HG01192.hp2 HG01346.hp1 HG01358.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG02040.hp1 HG02148.hp2 HG02258.hp2 HG02717.hp2 HG02723.hp1 HG03540.hp2 HG03831.hp1 HG03834.hp1 NA18940.hp1 NA18941.hp1 NA18948.hp1 NA18957.hp2 NA18962.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18994.hp1 NA18997.hp1 NA19006.hp2 NA19009.hp2 NA19011.hp2 NA19063.hp1 NA19064.hp2 NA19070.hp1 NA19077.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0009g0047	41	362	0.1133	16	c.-61 others(33): Show c.-61-2545_-61-2544insTTTTTTTTTTTTTTTT	BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
BPIFA1_chr20_33230996_33248306	33231150	G G	GAAGGAAG others(9): Show GAAGGAAGGAAGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG03195.hp1 HG02280.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0095 a0001c0001t0002g0096	2	382	0.0052	16	c.-49 others(27): Show c.-4916_-4915insAAGGAAGGAAGGAAGA	BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding		4845		chr20	TogoVar
BPIFA1_chr20_33230996_33248306	33231205	G G	GGAAGGAA others(9): Show GGAAGGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG03927.hp2 NA19090.hp2 HG00544.hp1 HG03927.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0034	3	382	0.0079	16	c.-48 others(27): Show c.-4861_-4860insGAAGGAAAGAAAGAAA	BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding		4790		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33213100	G G	GTGTGTAT others(9): Show GTGTGTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	416	0.0024	16	c.-44 others(27): Show c.-4437_-4436insTGTGTATATATATATA	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		4251		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231150	G G	GAAGGAAG others(9): Show GAAGGAAGGAAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG03195.hp2 HG02280.hp1 HG03195.hp2	a0004 a0012 a0004 a0012	a0004c0004 a0012c0017 a0004c0004 a0012c0017	a0004c0004t0002 a0012c0017t0001 a0004c0004t0002 a0012c0017t0001	a0004c0004t0002g0050 a0012c0017t0001g0058 a0004c0004t0002g0050 a0012c0017t0001g0058	2	416	0.0048	16	c.35 others(27): Show c.3533_*3534insAAGGAAGGAAGGAAGA	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		3345		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231205	G G	GGAAGGAA others(9): Show GGAAGGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG03927.hp1 NA19090.hp1 HG00544.hp1 HG03927.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0065 a0002c0002t0001g0110 a0002c0002t0001g0005 a0002c0002t0001g0065 a0002c0002t0001g0110	3	416	0.0072	16	c.35 others(27): Show c.3588_*3589insGAAGGAAAGAAAGAAA	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		3400		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231267	A A	AAAGAAAG others(9): Show AAAGAAAGAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	416	0.0024	16	c.36 others(27): Show c.3650_*3651insAAGAAAGAAAGAAAAG	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		3462		chr20	TogoVar
BPIFB1_chr20_33278214_33314871	33279882	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01069.hp2 HG01071.hp1 others(11): Show HG00140.hp2 HG01069.hp2 HG01071.hp1 HG01981.hp2 HG02148.hp2 NA18941.hp1 NA18950.hp2 NA18963.hp2 NA18997.hp2 NA18999.hp1 NA19011.hp1 NA19057.hp2 NA19074.hp2 NA19080.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0010	a0002c0002 a0003c0003 a0004c0004 others(1): Show a0002c0002 a0003c0003 a0004c0004 a0010c0010	a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 others(1): Show a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0010c0010t0001	a0002c0002t0001g0025 a0002c0002t0001g0061 a0002c0002t0001g0062 others(8): Show a0002c0002t0001g0025 a0002c0002t0001g0061 a0002c0002t0001g0062 a0003c0003t0001g0064 a0004c0004t0001g0012 a0004c0004t0001g0051 a0004c0004t0001g0056 a0004c0004t0001g0059 a0004c0004t0001g0060 a0010c0010t0001g0024 a0010c0010t0001g0058	14	388	0.0361	16	c.-34 others(27): Show c.-3414_-3413insTCTCTCTCTCTCTCTC	BPIFB1	ENSG00000125999.11	transcript	ENST00000253354.2	protein_coding		3331		chr20	TogoVar
BPIFB1_chr20_33278214_33314871	33295646	A A	AAGAAAGA others(9): Show AAGAAAGAAAGACAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0133 a0005c0005t0001g0133	1	388	0.0026	16	c.598 others(33): Show c.598-1868_598-1867insCAGAGAGAAAGAAAGA	BPIFB1	ENSG00000125999.11	transcript	ENST00000253354.2	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFB2_chr20_33002704_33028703	33025739	G G	GTCCATCC others(9): Show GTCCATCCATCCATCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	388	0.0026	16	c.23 others(27): Show c.2356_*2357insTCCATCCATCCATCCA	BPIFB2	ENSG00000078898.7	transcript	ENST00000170150.4	protein_coding		2037		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052540	G G	GTATATAT others(9): Show GTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02523.hp1 HG02155.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	374	0.0054	16	c.-14 others(27): Show c.-1440_-1439insTATATATATATATATA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1362		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052542	G G	GTATATAT others(9): Show GTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	16	c.-14 others(27): Show c.-1438_-1437insTATATATATATATATA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1360		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052544	G G	GTATATAT others(9): Show GTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02615.hp2 HG01109.hp2 HG02615.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0030 a0003c0003t0001g0061 a0003c0003t0001g0030 a0003c0003t0001g0061	2	374	0.0054	16	c.-14 others(27): Show c.-1436_-1435insTATATATATATATATA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1358		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052548	G G	GTATATAT others(9): Show GTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	374	0.0027	16	c.-14 others(27): Show c.-1432_-1431insTATATATATATATATA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding		1354		chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33087717	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	344	0.0029	16	c.927 others(33): Show c.927-1227_927-1212dupCACACACACACACACA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33087753	C C	CACACACA others(9): Show CACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00733.hp2 others(48): Show HG00609.hp1 HG00609.hp2 HG00733.hp2 HG00738.hp2 HG01074.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01358.hp2 HG01884.hp2 HG01928.hp1 HG01975.hp2 HG02129.hp1 HG02486.hp2 HG02602.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03927.hp1 NA18941.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18977.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19066.hp1 NA19072.hp2 NA19077.hp1 NA19086.hp1 NA19091.hp2 NA20752.hp1	a0001 a0002 a0008 others(5): Show a0001 a0002 a0008 a0010 a0013 a0017 a0018 a0021	a0001c0001 a0001c0026 a0002c0002 others(6): Show a0001c0001 a0001c0026 a0002c0002 a0008c0008 a0010c0010 a0013c0025 a0017c0019 a0018c0020 a0021c0024	a0001c0001t0001 a0001c0026t0001 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0026t0001 a0002c0002t0001 a0008c0008t0001 a0010c0010t0001 a0013c0025t0001 a0017c0019t0001 a0018c0020t0001 a0021c0024t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0026 others(38): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0134 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0262 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0026t0001g0260 a0002c0002t0001g0004 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0115 a0008c0008t0001g0036 a0010c0010t0001g0051 a0013c0025t0001g0239 a0017c0019t0001g0124 a0018c0020t0001g0027 a0021c0024t0001g0027	51	344	0.1483	16	c.927 others(33): Show c.927-1212_927-1211insCACACACACACACAAA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33108423	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0141 a0003c0015t0001g0141	1	344	0.0029	16	c.182 others(33): Show c.1821+617_1821+618insTATATATATATATATA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFC_chr22_32408845_32469446	32423571	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0003 a0012c0011t0003	a0012c0011t0003g0011 a0012c0011t0003g0011	1	422	0.0024	16	c.121 others(35): Show c.1218-4168_1218-4167insACACACACACACACAC	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32423577	G G	GGGGTGTG others(9): Show GGGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0017 a0017	a0017c0015 a0017c0015	a0017c0015t0002 a0017c0015t0002	a0017c0015t0002g0044 a0017c0015t0002g0044	1	422	0.0024	16	c.121 others(35): Show c.1218-4174_1218-4173insACACACACACACACCC	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32423577	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0031 a0006c0006t0001g0031	1	422	0.0024	16	c.121 others(35): Show c.1218-4189_1218-4174dupACACACACACACACAC	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32435262	A A	ATCATGAA others(9): Show ATCATGAAAAAACAAAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp1 HG01891.hp2 HG03225.hp1	a0006 a0014 a0006 a0014	a0006c0006 a0014c0016 a0006c0006 a0014c0016	a0006c0006t0001 a0014c0016t0001 a0006c0006t0001 a0014c0016t0001	a0006c0006t0001g0288 a0014c0016t0001g0361 a0006c0006t0001g0288 a0014c0016t0001g0361	2	422	0.0047	16	c.924 others(31): Show c.924+441_924+442insATTTGTTTTTTCATGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	10/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32464646	A A	AACACACA others(9): Show AACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG04184.hp2 HG03710.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0075 a0002c0002t0001g0045 a0001c0001t0001g0075 a0002c0002t0001g0045	2	422	0.0047	16	c.-36 others(25): Show c.-362_-361insGTGTGTGTGTGTGTGT	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding		201		chr22	TogoVar
BPI_chr20_38299156_38342505	38329005	C C	CTAAATAA others(9): Show CTAAATAAATAGATAAA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0148 a0008c0008t0001g0148	1	426	0.0024	16	c.122 others(35): Show c.1229+1360_1229+1361insGATAAATAAATAAATA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPNT1_chr1_220052482_220094788	220090949	T T	TATATATA others(9): Show TATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	424	0.0024	16	c.-12 others(27): Show c.-1273_-1272insGTGTATATATATATAT	BPNT1	ENSG00000162813.18	transcript	ENST00000322067.12	protein_coding		1162		chr1	TogoVar
BPNT2_chr8_56952931_56998867	56956044	A A	AATATATA others(9): Show AATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02976.hp2 HG02451.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0037 a0001c0001t0002 a0001c0002t0037	a0001c0001t0002g0215 a0001c0002t0037g0259 a0001c0001t0002g0215 a0001c0002t0037g0259	2	356	0.0056	16	c.77 others(27): Show c.7748_*7749insATATATATATATATAT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding		1886		chr8	TogoVar
BPNT2_chr8_56952931_56998867	56980819	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	356	0.0028	16	c.388 others(31): Show c.388-638_388-623dupGTGTGTGTGTGTGTGT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding	1/4			chr8	TogoVar
BPNT2_chr8_56952931_56998867	56980819	T T	TATACACA others(9): Show TATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG04228.hp2 NA18986.hp2 HG03710.hp2 HG04228.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0225 a0001c0001t0002g0230 a0001c0001t0002g0196 a0001c0001t0002g0225 a0001c0001t0002g0230	3	356	0.0084	16	c.388 others(31): Show c.388-623_388-622insGTGTGTGTGTGTGTAT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding	1/4			chr8	TogoVar
BPTF_chr17_67820503_67989378	67873992	C C	CTGGATGG others(9): Show CTGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02723.hp2 others(5): Show HG02109.hp2 HG02486.hp1 HG02723.hp2 HG02922.hp1 HG03486.hp1 NA18906.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0003 a0001c0003t0002 a0001c0003t0003	a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0003g0089 others(5): Show a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0003g0089 a0001c0003t0003g0090 a0001c0003t0003g0092 a0001c0003t0003g0093 a0001c0003t0003g0094 a0001c0003t0003g0096	8	274	0.0292	16	c.166 others(33): Show c.1661-803_1661-788dupGGATGGATGGATGGAT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTCCT others(9): Show CTTTTCCTTTCTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0008 a0003c0030t0008	a0003c0030t0008g0097 a0003c0030t0008g0097	1	274	0.0037	16	c.530 others(35): Show c.5304-1579_5304-1578insCCTTTCTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0261 a0002c0002t0002g0261	1	274	0.0037	16	c.530 others(35): Show c.5304-1579_5304-1564dupTTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67981866	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01361.hp1 HG01433.hp1 others(5): Show HG00735.hp1 HG01361.hp1 HG01433.hp1 HG02145.hp2 NA18942.hp2 NA18965.hp2 NA19078.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0133 a0002c0002t0002g0182 a0002c0002t0002g0190 others(5): Show a0001c0001t0001g0133 a0002c0002t0002g0182 a0002c0002t0002g0190 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0223 a0002c0002t0002g0273 a0002c0002t0002g0274	8	274	0.0292	16	c.872 others(33): Show c.8727-363_8727-348dupACACACACACACACAC	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67984630	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00558.hp1 others(58): Show HG00280.hp1 HG00438.hp1 HG00558.hp1 HG00735.hp2 HG01069.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01256.hp2 HG01346.hp1 HG01433.hp2 HG01884.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02145.hp1 HG02273.hp1 HG02622.hp1 HG02723.hp1 HG02735.hp1 HG02895.hp1 HG02922.hp2 HG03195.hp1 HG03239.hp1 HG03490.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18941.hp1 NA18942.hp2 NA18954.hp1 NA18962.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18989.hp1 NA18990.hp2 NA18998.hp2 NA19002.hp2 NA19011.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19077.hp1 NA19079.hp2 NA19082.hp2 NA19087.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0014 a0001 a0011 a0014	a0001c0001 a0001c0005 a0001c0015 others(5): Show a0001c0001 a0001c0005 a0001c0015 a0001c0020 a0001c0021 a0001c0024 a0011c0019 a0014c0028	a0001c0001t0001 a0001c0001t0011 a0001c0005t0005 others(6): Show a0001c0001t0001 a0001c0001t0011 a0001c0005t0005 a0001c0015t0001 a0001c0020t0001 a0001c0021t0001 a0001c0024t0001 a0011c0019t0001 a0014c0028t0009	a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0045 others(58): Show a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0179 a0001c0001t0011g0128 a0001c0005t0005g0099 a0001c0015t0001g0161 a0001c0020t0001g0258 a0001c0021t0001g0177 a0001c0024t0001g0139 a0011c0019t0001g0059 a0014c0028t0009g0001	61	274	0.2226	16	c.23 others(27): Show c.2342_*2343insTTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding		253		chr17	TogoVar
BRAF_chr7_140714337_140929929	140812160	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02886.hp1 HG03688.hp2 others(1): Show HG02683.hp2 HG02886.hp1 HG03688.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0100 a0001c0001t0002g0106 a0001c0001t0002g0178 others(1): Show a0001c0001t0002g0100 a0001c0001t0002g0106 a0001c0001t0002g0178 a0001c0006t0002g0102	4	190	0.0211	16	c.505 others(33): Show c.505-3181_505-3166dupCACACACACACACACA	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	3/19			chr7	TogoVar
BRAF_chr7_140714337_140929929	140872216	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02630.hp1 others(11): Show HG02257.hp2 HG02258.hp2 HG02630.hp1 HG02647.hp2 HG02896.hp2 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp1 HG03688.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 others(11): Show a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0002g0106 a0001c0001t0006g0126 a0001c0001t0006g0127 a0001c0001t0007g0003 a0001c0001t0013g0002	14	190	0.0737	16	c.139 others(35): Show c.139-22020_139-22005dupATTTATTTATTTATTT	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140714337_140929929	140884429	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03834.hp2 HG01952.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0138 a0001c0002t0001g0064 a0001c0001t0001g0138 a0001c0002t0001g0064	2	190	0.0105	16	c.139 others(35): Show c.139-34233_139-34218dupCACACACACACACACA	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140714337_140929929	140906087	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0097 a0001c0003t0002g0097	1	190	0.0053	16	c.138 others(35): Show c.138+18463_138+18478dupTTTTTTTTTTTTTTTT	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140725665_140929929	140812160	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02723.hp2 HG02886.hp2 others(2): Show HG02683.hp1 HG02723.hp2 HG02886.hp2 HG03688.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0035 a0001c0001t0002 a0001c0006t0035	a0001c0001t0002g0095 a0001c0001t0002g0104 a0001c0001t0002g0110 others(2): Show a0001c0001t0002g0095 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0183 a0001c0006t0035g0106	5	196	0.0255	16	c.505 others(33): Show c.505-3181_505-3166dupCACACACACACACACA	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	3/17			chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)