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	distance	status	chr	external
BMPR2_chr2_202371327_202572749	202434908	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03139.hp1 NA18522.hp2 HG03130.hp1 HG03139.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0038 a0001c0001t0052 a0001c0001t0014 a0001c0001t0038 a0001c0001t0052	a0001c0001t0014g0142 a0001c0001t0038g0136 a0001c0001t0052g0145 a0001c0001t0014g0142 a0001c0001t0038g0136 a0001c0001t0052g0145	3	224	0.0134	22	c.77- others(39): Show c.77-29900_77-29899insAATATATATATATATATATATA		BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434933	A A	ATATATAT others(15): Show ATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0081 a0001c0001t0006g0081	1	224	0.0045	22	c.77- others(39): Show c.77-29873_77-29872insATATATATATATATTTATTTAT		BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202435376	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0141 a0001c0001t0005g0141	1	224	0.0045	22	c.77- others(39): Show c.77-29422_77-29401dupATATATATATATATATATATAT		BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202483034	T T	TTGTTATT others(15): Show TTGTTATTTTTTTTAAATAGTCG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	224	0.0045	22	c.418 others(41): Show c.418+15346_418+15367dupTGTTATTTTTTTTAAATAGTCG		BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
BNC2_chr9_16404503_16875670	16418664	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0059 a0004c0004t0059	a0004c0004t0059g0119 a0004c0004t0059g0119	1	176	0.0057	22	c.30 others(31): Show c.303_*324dupCACACACACACACACACACACA		BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	7/7				324		chr9	TogoVar
BNC2_chr9_16404503_16875670	16501941	C C	CTTTGCCA others(15): Show CTTTGCCATTTTCTTGCATATTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0073 a0001c0005t0073	a0001c0005t0073g0037 a0001c0005t0073g0037	1	176	0.0057	22	c.669 others(41): Show c.669+50567_669+50588dupAAATATGCAAGAAAATGGCAAA		BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6						chr9	TogoVar
BNC2_chr9_16404503_16875670	16677578	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02109.hp2 others(7): Show HG01891.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02572.hp1 HG02738.hp1 HG02886.hp2 HG02970.hp2 HG03209.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0020 a0001c0001t0024 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0002t0029	a0001c0001t0001g0038 a0001c0001t0001g0141 a0001c0001t0003g0082 others(7): Show a0001c0001t0001g0038 a0001c0001t0001g0141 a0001c0001t0003g0082 a0001c0001t0008g0014 a0001c0001t0020g0081 a0001c0001t0024g0133 a0001c0001t0064g0012 a0001c0001t0065g0104 a0001c0001t0066g0136 a0001c0002t0029g0175	10	176	0.0568	22	c.330 others(41): Show c.330+50197_330+50218dupGTGTGTGTGTGTGTGTGTGTGT		BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6						chr9	TogoVar
BNC2_chr9_16404503_16875670	16839851	T T	TACCTACG others(15): Show TACCTACGTACAAACATGCATGC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0064 a0001c0001t0021g0064	1	176	0.0057	22	c.3+3 others(37): Show c.3+30773_3+30794dupGCATGCATGTTTGTACGTAGGT		BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6						chr9	TogoVar
BNIP2_chr15_59654146_59694320	59683231	T T	TATCCTCA others(15): Show TATCCTCATTTTAAAAGTAAGAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	412	0.0024	22	c.-57 others(37): Show c.-57-739_-57-718dupTTCTTACTTTTAAAATGAGGAT		BNIP2	ENSG00000140299.14	transcript	ENST00000607373.6	protein_coding	1/9						chr15	TogoVar
BOC_chr3_113206557_113292459	113236290	A A	ATATATAT others(15): Show ATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG02615.hp1 others(14): Show HG00544.hp1 HG00597.hp1 HG02615.hp1 HG02738.hp2 NA18939.hp1 NA18951.hp1 NA18952.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18974.hp2 NA18989.hp2 NA19054.hp2 NA19060.hp2 NA19080.hp2 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0006 a0001c0008 a0004c0011 a0001c0006 a0001c0008 a0004c0011	a0001c0006t0013 a0001c0008t0004 a0001c0008t0011 others(3): Show a0001c0006t0013 a0001c0008t0004 a0001c0008t0011 a0001c0008t0028 a0004c0011t0004 a0004c0011t0011	a0001c0006t0013g0125 a0001c0008t0004g0038 a0001c0008t0004g0041 others(14): Show a0001c0006t0013g0125 a0001c0008t0004g0038 a0001c0008t0004g0041 a0001c0008t0004g0042 a0001c0008t0004g0066 a0001c0008t0004g0090 a0001c0008t0004g0283 a0001c0008t0004g0343 a0001c0008t0011g0143 a0001c0008t0028g0225 a0001c0008t0028g0226 a0004c0011t0004g0202 a0004c0011t0004g0318 a0004c0011t0011g0013 a0004c0011t0011g0014 a0004c0011t0011g0144 a0004c0011t0011g0145	17	386	0.0440	22	c.-81 others(41): Show c.-81-13418_-81-13417insCCCATGGGTATATATATATATA		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(15): Show GAAACAGACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01934.hp1 HG02040.hp1 others(12): Show HG00438.hp1 HG01934.hp1 HG02040.hp1 HG02109.hp2 HG02280.hp2 HG02622.hp1 HG03098.hp2 HG03225.hp1 HG03579.hp1 NA18522.hp1 NA18997.hp2 NA19070.hp1 NA19081.hp1 NA19087.hp2 NA19088.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0010 a0001c0001 a0001c0002 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001 a0005c0010t0002	a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0002g0124 others(10): Show a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0002g0124 a0001c0001t0002g0151 a0001c0001t0004g0004 a0001c0001t0004g0096 a0001c0001t0005g0127 a0001c0001t0020g0176 a0001c0001t0021g0029 a0001c0002t0001g0013 a0001c0002t0001g0036 a0001c0002t0001g0059 a0005c0010t0002g0126	15	434	0.0346	22	c.-97 others(31): Show c.-971_-970insAAACAGACACACACACACACAC		BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding					692		chr2	TogoVar
BORA_chr13_72722923_72761196	72724752	A A	ATATATAT others(15): Show ATATATATATATATATATGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	388	0.0026	22	c.-32 others(33): Show c.-3271_-3270insTATATATATATATATATGTGTG		BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding					3170		chr13	TogoVar
BORA_chr13_72722923_72761196	72724752	A A	ATATATAT others(15): Show ATATATATATATATGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG00738.hp2 others(10): Show HG00408.hp2 HG00738.hp1 HG00738.hp2 HG02602.hp1 HG03491.hp1 HG03927.hp1 NA18943.hp1 NA18961.hp2 NA18963.hp2 NA18968.hp1 NA18970.hp2 NA18999.hp1 NA19078.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0004t0002 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0050 a0001c0001t0001g0059 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0147 a0001c0001t0002g0003 a0001c0001t0002g0033 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0002t0001g0047 a0002c0004t0002g0067 a0005c0008t0001g0001	13	388	0.0335	22	c.-32 others(33): Show c.-3271_-3270insTATATATATATATGTGTGTGTG		BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding					3170		chr13	TogoVar
BORA_chr13_72722923_72761196	72724752	A A	ATATATAT others(15): Show ATATATATATATGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01884.hp2 others(2): Show HG01070.hp1 HG01071.hp2 HG01884.hp2 NA18988.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0051 a0001c0001t0001g0128 a0001c0001t0002g0071 others(1): Show a0001c0001t0001g0051 a0001c0001t0001g0128 a0001c0001t0002g0071 a0001c0001t0006g0035	5	388	0.0129	22	c.-32 others(33): Show c.-3271_-3270insTATATATATATGTGTGTGTGTG		BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding					3170		chr13	TogoVar
BORA_chr13_72722923_72761196	72724752	A A	ATATATAT others(15): Show ATATATATATGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	388	0.0026	22	c.-32 others(33): Show c.-3271_-3270insTATATATATGTGTGTGTGTGTG		BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding					3170		chr13	TogoVar
BPIFA1_chr20_33230996_33248306	33231205	G G	GGAAGGAA others(15): Show GGAAGGAAAGAAAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	382	0.0026	22	c.-48 others(33): Show c.-4861_-4860insGAAGGAAAGAAAAAGAAAGAAA		BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding					4790		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33213100	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0125 a0007c0008t0002g0125	1	416	0.0024	22	c.-44 others(33): Show c.-4437_-4436insTGTATATATATATATATATATA		BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding					4251		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33213111	T T	TATATATA others(15): Show TATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0124 a0007c0008t0002g0124	1	416	0.0024	22	c.-44 others(33): Show c.-4426_-4425insATATATATATATATATATATAC		BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding					4240		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231205	G G	GGAAGGAA others(15): Show GGAAGGAAAGAAAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	416	0.0024	22	c.35 others(33): Show c.3588_*3589insGAAGGAAAGAAAAAGAAAGAAA		BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding					3400		chr20	TogoVar
BPIFB1_chr20_33278214_33314871	33279882	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 NA18946.hp1 HG02809.hp1 NA18946.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0012 a0004c0004t0001g0053 a0004c0004t0001g0012 a0004c0004t0001g0053	2	388	0.0052	22	c.-34 others(33): Show c.-3414_-3413insTCTCTCTCTCTCTCTCTCTCTC		BPIFB1	ENSG00000125999.11	transcript	ENST00000253354.2	protein_coding					3331		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052540	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA19084.hp2 NA18990.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	374	0.0054	22	c.-14 others(33): Show c.-1440_-1439insTATATATATATATATATATATA		BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding					1362		chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33052546	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0082 a0002c0002t0002g0082	1	374	0.0027	22	c.-14 others(33): Show c.-1434_-1433insTATATATATATATATATATATA		BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding					1356		chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33087753	C C	CACACACA others(15): Show CACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01168.hp2 others(8): Show HG00280.hp2 HG00639.hp2 HG01168.hp2 HG01169.hp1 HG02572.hp2 HG02809.hp1 HG02886.hp1 HG03540.hp1 HG06807.hp1 NA18948.hp1 NA19072.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0007 a0001c0001 a0002c0002 a0007c0007	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0007c0007t0001	a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0137 others(8): Show a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0113 a0002c0002t0002g0103 a0002c0002t0002g0106 a0007c0007t0001g0279	11	344	0.0320	22	c.927 others(39): Show c.927-1212_927-1211insCACACACACACACACACACAAA		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(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00609.hp2 others(27): Show HG00280.hp2 HG00558.hp2 HG00609.hp2 HG01361.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01975.hp2 HG02040.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02723.hp1 HG02922.hp1 HG03098.hp2 HG03453.hp1 HG03471.hp1 NA18522.hp2 NA18948.hp1 NA18955.hp2 NA18956.hp2 NA18993.hp1 NA19012.hp2 NA19070.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA20752.hp1 NA20805.hp1	a0002 a0006 a0011 others(3): Show a0002 a0006 a0011 a0012 a0013 a0016	a0002c0002 a0002c0011 a0006c0005 others(5): Show a0002c0002 a0002c0011 a0006c0005 a0011c0012 a0011c0022 a0012c0013 a0013c0016 a0016c0017	a0002c0002t0001 a0002c0011t0001 a0006c0005t0001 others(5): Show a0002c0002t0001 a0002c0011t0001 a0006c0005t0001 a0011c0012t0001 a0011c0022t0001 a0012c0013t0001 a0013c0016t0001 a0016c0017t0001	a0002c0002t0001g0004 a0002c0002t0001g0071 a0002c0002t0001g0073 others(21): Show a0002c0002t0001g0004 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0092 a0002c0002t0001g0105 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0011t0001g0018 a0002c0011t0001g0096 a0006c0005t0001g0015 a0006c0005t0001g0016 a0006c0005t0001g0057 a0006c0005t0001g0058 a0011c0012t0001g0126 a0011c0022t0001g0052 a0012c0013t0001g0034 a0013c0016t0001g0248 a0016c0017t0001g0120	30	344	0.0872	22	c.182 others(39): Show c.1821+617_1821+618insTATATATATATATATATATATA		BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	17/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFC_chr22_32408845_32469446	32464465	A A	AGCTGCTA others(15): Show AGCTGCTAAAAAGCCAAGATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	422	0.0024	22	c.-18 others(31): Show c.-181_-180insATTATCTTGGCTTTTTAGCAGC		BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding					20		chr22	TogoVar
BPI_chr20_38299156_38342505	38339638	G G	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00733.hp1 HG01934.hp1 others(2): Show HG00673.hp1 HG00733.hp1 HG01934.hp1 NA19003.hp2 NA19074.hp2	a0004 a0025 a0004 a0025	a0004c0004 a0025c0029 a0004c0004 a0025c0029	a0004c0004t0003 a0025c0029t0002 a0004c0004t0003 a0025c0029t0002	a0004c0004t0003g0006 a0004c0004t0003g0015 a0004c0004t0003g0228 others(2): Show a0004c0004t0003g0006 a0004c0004t0003g0015 a0004c0004t0003g0228 a0025c0029t0002g0010 a0025c0029t0002g0133	5	426	0.0117	22	c.24 others(33): Show c.2454_*2455insAAAAAAAAAAAAAAAAAAAAAA		BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding					2134		chr20	TogoVar
BPNT2_chr8_56952931_56998867	56956044	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 NA18969.hp2 HG02080.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0228 a0001c0001t0002g0194 a0001c0001t0002g0228	2	356	0.0056	22	c.77 others(33): Show c.7748_*7749insATATATATATATATATATATAT		BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding					1886		chr8	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG02293.hp1 others(5): Show HG00639.hp1 HG00741.hp2 HG02293.hp1 NA18747.hp1 NA18939.hp2 NA18956.hp1 NA19000.hp1 NA19065.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0011 a0002c0002 a0007c0011	a0002c0002t0002 a0007c0011t0002 a0002c0002t0002 a0007c0011t0002	a0002c0002t0002g0192 a0002c0002t0002g0216 a0002c0002t0002g0218 others(5): Show a0002c0002t0002g0192 a0002c0002t0002g0216 a0002c0002t0002g0218 a0002c0002t0002g0232 a0002c0002t0002g0240 a0002c0002t0002g0262 a0002c0002t0002g0272 a0007c0011t0002g0180	8	274	0.0292	22	c.530 others(41): Show c.5304-1564_5304-1563insTTTTTTTTTTTTTTTTTTTTTT		BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67979169	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0096 a0001c0003t0003g0096	1	274	0.0037	22	c.872 others(41): Show c.8727-3062_8727-3061insAAAAAAAAAAAAAAAAAAAAAA		BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAF_chr7_140714337_140929929	140732170	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0146 a0001c0001t0018g0146	1	190	0.0053	22	c.240 others(41): Show c.2401+2425_2401+2446dupTTTTTTTTTTTTTTTTTTTTTT		BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	19/19						chr7	TogoVar
BRAF_chr7_140714337_140929929	140791531	T T	TCAATGTA others(15): Show TCAATGTACATATGCTCTTTGAG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA19007.hp2 NA19066.hp2 NA18956.hp2 NA19007.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0170 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0170	3	190	0.0158	22	c.114 others(41): Show c.1140+2776_1140+2777insCTCAAAGAGCATATGTACATTG		BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	8/19						chr7	TogoVar
BRAF_chr7_140714337_140929929	140791531	T T	TCAATTTA others(15): Show TCAATTTACATATGCTCTTTGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00558.hp1 others(14): Show HG00099.hp2 HG00408.hp1 HG00558.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG02738.hp1 HG03490.hp1 HG03654.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18943.hp2 NA18959.hp1 NA18968.hp2 NA19001.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030	a0001c0001t0001g0174 a0001c0001t0004g0159 a0001c0001t0004g0161 others(14): Show a0001c0001t0001g0174 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0010g0153 a0001c0001t0010g0163 a0001c0001t0010g0176 a0001c0001t0024g0160 a0001c0001t0025g0162 a0001c0001t0030g0181	17	190	0.0895	22	c.114 others(41): Show c.1140+2755_1140+2776dupCTCAAAGAGCATATGTAAATTG		BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	8/19						chr7	TogoVar
BRAF_chr7_140725665_140929929	140732170	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0151 a0001c0001t0054g0151	1	196	0.0051	22	c.24 others(33): Show c.2405_*2426dupTTTTTTTTTTTTTTTTTTTTTT		BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	18/18				2426		chr7	TogoVar
BRAF_chr7_140725665_140929929	140791531	T T	TCAATGTA others(15): Show TCAATGTACATATGCTCTTTGAG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA19007.hp1 NA19066.hp2 NA18956.hp2 NA19007.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0175	3	196	0.0153	22	c.114 others(41): Show c.1140+2776_1140+2777insCTCAAAGAGCATATGTACATTG		BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	8/17						chr7	TogoVar
BRAF_chr7_140725665_140929929	140791531	T T	TCAATTTA others(15): Show TCAATTTACATATGCTCTTTGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00558.hp1 others(14): Show HG00099.hp1 HG00408.hp1 HG00558.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG02738.hp2 HG03490.hp1 HG03654.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 NA18943.hp2 NA18959.hp2 NA18968.hp2 NA19001.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0034 others(3): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0034 a0001c0001t0043 a0001c0001t0044 a0001c0001t0059	a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0170 others(14): Show a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0170 a0001c0001t0004g0176 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0009g0165 a0001c0001t0009g0166 a0001c0001t0009g0173 a0001c0001t0009g0174 a0001c0001t0009g0177 a0001c0001t0034g0169 a0001c0001t0043g0164 a0001c0001t0044g0158 a0001c0001t0059g0186	17	196	0.0867	22	c.114 others(41): Show c.1140+2755_1140+2776dupCTCAAAGAGCATATGTAAATTG		BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	8/17						chr7	TogoVar
BRAP_chr12_111637146_111690956	111667698	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG03516.hp2 others(2): Show HG02280.hp1 HG02559.hp1 HG03516.hp2 HG04199.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0211 a0001c0001t0001g0213 others(2): Show a0001c0001t0001g0093 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0224 a0001c0001t0001g0240	5	364	0.0137	22	c.748 others(39): Show c.748-1933_748-1912dupTTTTTTTTTTTTTTTTTTTTTT		BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	5/11						chr12	TogoVar
BRAT1_chr7_2532810_2560524	2552078	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	424	0.0024	22	c.127 others(39): Show c.127+2226_127+2227insTATATATATATATATATATATA		BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13						chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552081	A A	AACATATA others(15): Show AACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG00423.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0212 a0001c0003t0001g0242 a0001c0003t0001g0212 a0001c0003t0001g0242	2	424	0.0047	22	c.127 others(39): Show c.127+2223_127+2224insATATATATATATATATATATGT		BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13						chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552081	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01109.hp2 HG01433.hp1 others(7): Show HG00544.hp2 HG01109.hp2 HG01433.hp1 HG02080.hp1 NA18944.hp1 NA18968.hp1 NA18971.hp2 NA18982.hp2 NA19087.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0269 others(5): Show a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0269 a0001c0001t0001g0302 a0001c0003t0001g0014 a0001c0003t0001g0021 a0001c0003t0001g0241 a0001c0003t0001g0268	10	424	0.0236	22	c.127 others(39): Show c.127+2202_127+2223dupATATATATATATATATATATAT		BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13						chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03017.hp2 HG01081.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0177 a0001c0001t0001g0178	2	424	0.0047	22	c.127 others(39): Show c.127+2198_127+2199insAATATATATATATATATATATA		BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13						chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0382 a0001c0001t0007g0382	1	424	0.0024	22	c.127 others(39): Show c.127+2198_127+2199insAAAATATATATATATATATATA		BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13						chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	424	0.0024	22	c.127 others(39): Show c.127+2198_127+2199insAAAAAATATATATATATATATA		BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13						chr7	TogoVar
BRD1_chr22_49768283_49832873	49827290	G G	GGCCCGAC others(15): Show GGCCCGACCTCCCCGGTCTCCCC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0241 a0001c0006t0012g0241	1	258	0.0039	22	c.-15 others(37): Show c.-15+185_-15+206dupGGGGAGACCGGGGAGGTCGGGC		BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	1/12						chr22	TogoVar
BRD3_chr9_134025305_134073026	134026753	T T	TCCAGGAC others(15): Show TCCAGGACCCCGGGAGGAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0119 a0001c0003t0001g0119	1	334	0.0030	22	c.68 others(33): Show c.6836_*6837insTCCTCTCCTCCCGGGGTCCTGG		BRD3	ENSG00000169925.17	transcript	ENST00000303407.12	protein_coding					3551		chr9	TogoVar
BRD4_chr19_15230519_15337539	15264415	T T	TCATGTCC others(15): Show TCATGTCCATGGGGTGCTTGATG	frameshift_variant frameshift_variant	HIGH	HG02056.hp1 HG02056.hp1	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0073 a0008c0033t0073	a0008c0033t0073g0152 a0008c0033t0073g0152	1	208	0.0048	22	c.117 others(31): Show c.1179_1200dupCATCAAGCACCCCATGGACATG	p.Ser others(5): Show p.Ser401fs	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	6/20	1484/7231	1200/4089	400/1362			chr19	TogoVar
BRDT_chr1_91944401_92019421	91945279	A A	AATATATA others(15): Show AATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 NA19087.hp2 HG03688.hp2 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0275 a0003c0003t0001g0268 a0001c0001t0001g0275 a0003c0003t0001g0268	2	318	0.0063	22	c.-44 others(33): Show c.-4441_-4440insATATATATATATATATATATAT		BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding					4121		chr1	TogoVar
BRI3BP_chr12_124988645_125036231	124997214	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02683.hp1 HG02717.hp2 others(2): Show HG02622.hp1 HG02683.hp1 HG02717.hp2 NA18948.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0063 a0001c0007t0024 a0001c0001t0001 a0001c0001t0063 a0001c0007t0024	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0152 others(2): Show a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0152 a0001c0001t0063g0080 a0001c0007t0024g0079	5	410	0.0122	22	c.213 others(39): Show c.213+3230_213+3231insTTTTTTTTTTTTTTTTTTTTTT		BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3_chr7_98276686_98296545	98280243	A A	AAGATATA others(15): Show AAGATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 NA18984.hp1 HG02559.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0072 a0001c0001t0001g0021 a0001c0001t0001g0072	2	414	0.0048	22	c.-15 others(33): Show c.-1553_-1552insAGATATATATATATATATATAT		BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding					1442		chr7	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	414	0.0024	22	c.-15 others(33): Show c.-1551_-1550insAAATATATATATATATATATAT		BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding					1440		chr7	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AATATATA others(15): Show AATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	414	0.0024	22	c.-15 others(33): Show c.-1551_-1550insATATATATATATATATATATAT		BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding					1440		chr7	TogoVar

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