Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AXL_chr19_41214223_41266766	41260298	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0005 a0001c0001t0053g0005	1	314	0.0032	14	c.41 others(23): Show c.412_*425dupTTTTTTTTTTTTTT	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	20/20	426	INFO_REALIGN_3_PRIME	chr19	TogoVar
AZI2_chr3_28316047_28353824	28352126	G G	GCACACAC others(7): Show GCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	360	0.0028	14	c.-35 others(25): Show c.-3545_-3532dupTGTGTGTGTGTGTG	AZI2	ENSG00000163512.14	transcript	ENST00000479665.6	protein_coding		3303		chr3	TogoVar
AZIN1_chr8_102821308_102869163	102822170	T T	TCACACAC others(7): Show TCACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	380	0.0026	14	c.63 others(25): Show c.6396_*6397insTGTGTGTGTGTGTG	AZIN1	ENSG00000155096.15	transcript	ENST00000337198.10	protein_coding		4137		chr8	TogoVar
AZU1_chr19_822837_837018	823450	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG01069.hp2 others(13): Show HG00140.hp2 HG00408.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG02630.hp2 HG03516.hp1 HG03669.hp1 NA18941.hp2 NA19056.hp2 NA19082.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0016 others(6): Show a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0031 a0001c0003t0001g0063	16	391	0.0409	14	c.-43 others(25): Show c.-4397_-4396insAAAAAAAAAAAAAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		4386		chr19	TogoVar
AZU1_chr19_822837_837018	823450	A A	AAAAAAAA others(7): Show AAAAAAAAACAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0018 a0005c0013t0001g0018	1	391	0.0026	14	c.-43 others(25): Show c.-4397_-4396insAAAAAAAACAAAAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		4386		chr19	TogoVar
AZU1_chr19_822837_837018	823450	A A	AAAAACAA others(7): Show AAAAACAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG03492.hp1 HG03834.hp1 others(1): Show HG01074.hp2 HG03492.hp1 HG03834.hp1 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0024 a0001c0003t0001g0047 a0001c0003t0001g0054 others(1): Show a0001c0003t0001g0024 a0001c0003t0001g0047 a0001c0003t0001g0054 a0001c0003t0001g0055	4	391	0.0102	14	c.-43 others(25): Show c.-4397_-4396insAAAACAAAAAAAAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		4386		chr19	TogoVar
AZU1_chr19_822837_837018	829936	A A	ATATGTGT others(7): Show ATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0039 a0001c0003t0001g0039	1	391	0.0026	14	c.360 others(29): Show c.360+231_360+232insATGTGTGTGTGTGT	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
AZU1_chr19_822837_837018	829936	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp2 HG01169.hp2 others(2): Show HG00639.hp2 HG01167.hp2 HG01169.hp2 NA19043.hp1 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0001c0004 a0005c0013 a0001c0003 a0001c0004 a0005c0013	a0001c0003t0001 a0001c0004t0001 a0005c0013t0001 a0001c0003t0001 a0001c0004t0001 a0005c0013t0001	a0001c0003t0001g0018 a0001c0004t0001g0067 a0005c0013t0001g0018 a0001c0003t0001g0018 a0001c0004t0001g0067 a0005c0013t0001g0018	5	391	0.0128	14	c.360 others(29): Show c.360+256_360+269dupGTGTGTGTGTGTGT	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
AZU1_chr19_822837_837018	836290	G G	GAGAGAGA others(7): Show GAGAGAGACAAAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG03130.hp2 HG02897.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0072 a0001c0003t0001g0038 a0001c0001t0001g0072 a0001c0003t0001g0038	2	391	0.0051	14	c.44 others(25): Show c.4413_*4414insAGAGAGACAAAGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		4273		chr19	TogoVar
B2M_chr15_44706517_44723145	44721707	A A	ACCACCAC others(7): Show ACCACCACCAACAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	385	0.0026	14	c.41 others(25): Show c.4115_*4116insCCACCACCAACAAC	B2M	ENSG00000166710.23	transcript	ENST00000648006.3	protein_coding		3563		chr15	TogoVar
B3GALNT2_chr1_235442190_235509452	235474987	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0337 a0001c0002t0003g0337	1	344	0.0029	14	c.652 others(31): Show c.652-4028_652-4027insAATATATATATATA	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11			chr1	TogoVar
B3GALNT2_chr1_235442190_235509452	235498843	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18970.hp2 NA19080.hp1 HG01167.hp2 NA18970.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088	3	344	0.0087	14	c.113 others(31): Show c.113-4029_113-4016dupTTTTTTTTTTTTTT	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	1/11			chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167303644	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0047 a0001c0001t0022g0047	1	118	0.0085	14	c.-51 others(35): Show c.-511+10336_-511+10349dupCACACACACACACA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167303682	C C	CACACACA others(7): Show CACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19007.hp2 HG02132.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0059 a0001c0001t0019g0117 a0001c0001t0003g0059 a0001c0001t0019g0117	2	118	0.0170	14	c.-51 others(35): Show c.-511+10349_-511+10350insCACACACAGAGAGA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167400166	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01496.hp2 HG02004.hp1 others(4): Show HG01258.hp2 HG01496.hp2 HG02004.hp1 HG02132.hp2 HG02615.hp1 HG02683.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0041	a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0001g0098 others(4): Show a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0001g0098 a0001c0001t0002g0073 a0001c0001t0006g0106 a0001c0001t0007g0116 a0001c0001t0041g0109	7	118	0.0593	14	c.-51 others(35): Show c.-510-89997_-510-89984dupGTGTGTGTGTGTGT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167512606	A A	ATGTATAT others(7): Show ATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19240.hp1 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0045 a0001c0001t0018 a0001c0001t0045	a0001c0001t0018g0060 a0001c0001t0045g0045 a0001c0001t0018g0060 a0001c0001t0045g0045	2	118	0.0170	14	c.-41 others(35): Show c.-410+22342_-410+22343insGTGTATATATATAT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167521980	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	118	0.0085	14	c.-41 others(35): Show c.-410+31704_-410+31705insATATATATATATAT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167625942	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0057 a0001c0001t0031g0057	1	118	0.0085	14	c.-40 others(35): Show c.-409-20936_-409-20923dupATATATATATATAT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167625985	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0111 a0001c0001t0004g0111	1	118	0.0085	14	c.-40 others(35): Show c.-409-20923_-409-20922insATATATATATATGT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167776040	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0107 a0001c0001t0032g0107	1	118	0.0085	14	c.-35 others(35): Show c.-351-42607_-351-42594dupCACACACACACACA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167803081	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0025 a0001c0001t0038g0025	1	118	0.0085	14	c.-35 others(35): Show c.-351-15564_-351-15551dupACACACACACACAC	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167875971	A A	ATATATAT others(7): Show ATATATATATACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02109.hp1 HG01106.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0039 a0001c0001t0001 a0001c0001t0039	a0001c0001t0001g0085 a0001c0001t0039g0048 a0001c0001t0001g0085 a0001c0001t0039g0048	2	118	0.0170	14	c.59 others(25): Show c.5951_*5952insTATATATATACACG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1927		chr2	TogoVar
B3GALT5_chr21_39607940_39678137	39613082	T T	TGGGGCGC others(7): Show TGGGGCGCGGGGCGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG03831.hp1 others(1): Show HG00558.hp2 HG00673.hp1 HG03831.hp1 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0015 a0002c0002t0084 a0002c0002t0003 a0002c0002t0015 a0002c0002t0084	a0002c0002t0003g0328 a0002c0002t0015g0329 a0002c0002t0015g0330 others(1): Show a0002c0002t0003g0328 a0002c0002t0015g0329 a0002c0002t0015g0330 a0002c0002t0084g0331	4	336	0.0119	14	c.-39 others(29): Show c.-392+20_-392+33dupCGCGGGGCGCGGGG	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639394	C C	CCTTCCTT others(7): Show CCTTCCTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03139.hp2 HG01993.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0076 a0001c0001t0001 a0002c0002t0076	a0001c0001t0001g0240 a0002c0002t0076g0303 a0001c0001t0001g0240 a0002c0002t0076g0303	2	336	0.0060	14	c.-39 others(33): Show c.-391-6998_-391-6997insCTTCCTTCTTTCTT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3			chr21	TogoVar
B3GAT1_chr11_134373508_134417242	134412098	G G	GGGCGGGG others(7): Show GGGCGGGGAGGGGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01074.hp2 others(26): Show HG00735.hp2 HG00738.hp2 HG01074.hp2 HG01192.hp1 HG01261.hp1 HG01981.hp2 HG02132.hp2 HG02135.hp1 HG02258.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG02896.hp2 HG03017.hp1 HG03195.hp2 HG03516.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 NA18940.hp1 NA18942.hp1 NA18950.hp2 NA18984.hp1 NA19000.hp2 NA19010.hp2 NA19079.hp1 NA19084.hp2 NA19087.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 others(7): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0002c0002t0006 a0002c0002t0016	a0001c0001t0006g0002 a0001c0001t0006g0032 a0001c0001t0006g0034 others(25): Show a0001c0001t0006g0002 a0001c0001t0006g0032 a0001c0001t0006g0034 a0001c0001t0006g0037 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0011g0031 a0001c0001t0011g0035 a0001c0001t0011g0036 a0001c0001t0011g0038 a0001c0001t0014g0053 a0001c0001t0014g0054 a0001c0001t0014g0055 a0001c0001t0016g0017 a0001c0001t0019g0033 a0001c0001t0019g0049 a0001c0001t0036g0045 a0001c0001t0037g0048 a0001c0001t0038g0052 a0002c0002t0006g0050 a0002c0002t0006g0051 a0002c0002t0016g0018	29	352	0.0824	14	c.-57 others(23): Show c.-574_-573insTCCCCCTCCCCGCC	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/6	24440		chr11	TogoVar
B3GAT2_chr6_70851679_70962060	70855069	C C	CATATACA others(7): Show CATATACATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	316	0.0032	14	c.65 others(25): Show c.6580_*6593dupATGTATATGTATAT	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding		1609		chr6	TogoVar
B3GAT2_chr6_70851679_70962060	70902617	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0020 a0001c0001t0012g0020	1	316	0.0032	14	c.592 others(31): Show c.592-8359_592-8346dupATATATATATATAT	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding	1/3			chr6	TogoVar
B3GAT2_chr6_70851679_70962060	70944435	G G	GCTCGGAG others(7): Show GCTCGGAGGGTCCTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(224): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18975.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(80): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0002t0008 a0001c0002t0011 a0001c0002t0014 a0001c0002t0015 a0001c0002t0022 a0001c0002t0029 a0001c0002t0031 a0001c0002t0042 a0001c0002t0043 a0001c0002t0088 a0001c0002t0089 a0001c0002t0091 a0001c0002t0094 a0001c0002t0095 a0001c0002t0096 a0001c0002t0097 a0001c0002t0098 a0001c0002t0099 a0001c0002t0100 a0001c0002t0101 a0001c0002t0106 a0001c0003t0062 a0002c0004t0063	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 others(223): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0101 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0002g0001 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0144 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0158 a0001c0001t0002g0175 a0001c0001t0003g0035 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0154 a0001c0001t0003g0168 a0001c0001t0004g0052 a0001c0001t0004g0056 a0001c0001t0004g0074 a0001c0001t0004g0098 a0001c0001t0004g0108 a0001c0001t0004g0112 a0001c0001t0004g0124 a0001c0001t0004g0131 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0149 a0001c0001t0004g0161 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0009g0047 a0001c0001t0009g0083 a0001c0001t0009g0092 a0001c0001t0009g0095 a0001c0001t0009g0116 a0001c0001t0009g0155 a0001c0001t0009g0159 a0001c0001t0010g0039 a0001c0001t0010g0051 a0001c0001t0010g0071 a0001c0001t0010g0084 a0001c0001t0010g0094 a0001c0001t0010g0122 a0001c0001t0010g0157 a0001c0001t0012g0009 a0001c0001t0012g0010 a0001c0001t0012g0017 a0001c0001t0012g0020 a0001c0001t0012g0022 a0001c0001t0012g0030 a0001c0001t0013g0033 a0001c0001t0013g0049 a0001c0001t0013g0085 a0001c0001t0013g0096 a0001c0001t0013g0140 a0001c0001t0013g0141 a0001c0001t0017g0007 a0001c0001t0017g0013 a0001c0001t0017g0014 a0001c0001t0017g0023 a0001c0001t0018g0006 a0001c0001t0018g0025 a0001c0001t0018g0026 a0001c0001t0018g0027 a0001c0001t0019g0012 a0001c0001t0019g0018 a0001c0001t0019g0019 a0001c0001t0019g0024 a0001c0001t0020g0053 a0001c0001t0020g0066 a0001c0001t0020g0078 a0001c0001t0020g0097 a0001c0001t0023g0076 a0001c0001t0023g0077 a0001c0001t0023g0086 a0001c0001t0024g0040 a0001c0001t0024g0123 a0001c0001t0024g0127 a0001c0001t0025g0109 a0001c0001t0025g0110 a0001c0001t0025g0134 a0001c0001t0032g0004 a0001c0001t0032g0021 a0001c0001t0033g0075 a0001c0001t0033g0114 a0001c0001t0034g0106 a0001c0001t0034g0148 a0001c0001t0035g0045 a0001c0001t0035g0166 a0001c0001t0036g0104 a0001c0001t0036g0138 a0001c0001t0037g0061 a0001c0001t0037g0088 a0001c0001t0044g0304 a0001c0001t0044g0306 a0001c0001t0045g0003 a0001c0001t0046g0029 a0001c0001t0047g0028 a0001c0001t0048g0008 a0001c0001t0049g0011 a0001c0001t0050g0016 a0001c0001t0051g0005 a0001c0001t0052g0015 a0001c0001t0053g0032 a0001c0001t0054g0031 a0001c0001t0055g0128 a0001c0001t0056g0115 a0001c0001t0057g0073 a0001c0001t0058g0082 a0001c0001t0059g0162 a0001c0001t0060g0118 a0001c0001t0061g0093 a0001c0001t0064g0165 a0001c0001t0065g0067 a0001c0001t0066g0139 a0001c0001t0067g0113 a0001c0001t0069g0103 a0001c0001t0070g0111 a0001c0001t0071g0038 a0001c0001t0072g0036 a0001c0001t0073g0107 a0001c0001t0074g0087 a0001c0001t0075g0130 a0001c0001t0076g0177 a0001c0001t0102g0303 a0001c0001t0103g0308 a0001c0001t0104g0305 a0001c0001t0105g0307 a0001c0001t0107g0312 a0001c0001t0108g0313 a0001c0001t0109g0310 a0001c0001t0110g0311 a0001c0001t0111g0314 a0001c0002t0008g0250 a0001c0002t0011g0255 a0001c0002t0011g0256 a0001c0002t0011g0259 a0001c0002t0011g0262 a0001c0002t0011g0271 a0001c0002t0011g0272 a0001c0002t0014g0279 a0001c0002t0014g0285 a0001c0002t0014g0289 a0001c0002t0014g0290 a0001c0002t0014g0291 a0001c0002t0014g0293 a0001c0002t0015g0253 a0001c0002t0015g0278 a0001c0002t0015g0281 a0001c0002t0015g0286 a0001c0002t0015g0287 a0001c0002t0015g0288 a0001c0002t0022g0283 a0001c0002t0029g0276 a0001c0002t0029g0280 a0001c0002t0031g0277 a0001c0002t0031g0282 a0001c0002t0042g0254 a0001c0002t0042g0295 a0001c0002t0043g0273 a0001c0002t0043g0274 a0001c0002t0088g0298 a0001c0002t0089g0297 a0001c0002t0091g0260 a0001c0002t0094g0275 a0001c0002t0095g0284 a0001c0002t0096g0261 a0001c0002t0097g0296 a0001c0002t0098g0294 a0001c0002t0099g0292 a0001c0002t0100g0258 a0001c0002t0101g0257 a0001c0002t0106g0309 a0001c0003t0062g0105 a0002c0004t0063g0176	227	316	0.7184	14	c.591 others(33): Show c.591+11403_591+11404insTAGGACCCTCCGAG	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding	1/3			chr6	TogoVar
B3GAT2_chr6_70851679_70962060	70944435	G G	GCTTGGAG others(7): Show GCTTGGAGGGTCCTA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02135.hp1 HG06807.hp2 others(10): Show HG02132.hp1 HG02135.hp1 HG06807.hp2 NA18951.hp1 NA18962.hp2 NA18965.hp1 NA18974.hp2 NA18981.hp2 NA18984.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0068 a0001c0002t0011 a0001c0002t0022 others(6): Show a0001c0001t0068 a0001c0002t0011 a0001c0002t0022 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0090 a0001c0002t0092 a0001c0002t0093	a0001c0001t0068g0167 a0001c0002t0011g0270 a0001c0002t0022g0266 others(10): Show a0001c0001t0068g0167 a0001c0002t0011g0270 a0001c0002t0022g0266 a0001c0002t0022g0269 a0001c0002t0022g0299 a0001c0002t0029g0300 a0001c0002t0030g0263 a0001c0002t0030g0264 a0001c0002t0030g0302 a0001c0002t0031g0267 a0001c0002t0090g0301 a0001c0002t0092g0265 a0001c0002t0093g0268	13	316	0.0411	14	c.591 others(33): Show c.591+11403_591+11404insTAGGACCCTCCAAG	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding	1/3			chr6	TogoVar
B3GAT2_chr6_70851679_70962060	70959050	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02135.hp1 NA18951.hp1 others(9): Show HG02132.hp1 HG02135.hp1 NA18951.hp1 NA18962.hp2 NA18965.hp1 NA18974.hp2 NA18981.hp2 NA18984.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0022 a0001c0002t0029 others(5): Show a0001c0002t0011 a0001c0002t0022 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0090 a0001c0002t0092 a0001c0002t0093	a0001c0002t0011g0270 a0001c0002t0022g0266 a0001c0002t0022g0269 others(9): Show a0001c0002t0011g0270 a0001c0002t0022g0266 a0001c0002t0022g0269 a0001c0002t0022g0299 a0001c0002t0029g0300 a0001c0002t0030g0263 a0001c0002t0030g0264 a0001c0002t0030g0302 a0001c0002t0031g0267 a0001c0002t0090g0301 a0001c0002t0092g0265 a0001c0002t0093g0268	12	316	0.0380	14	c.-26 others(25): Show c.-2622_-2621insGACACACACACACA	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding		1991		chr6	TogoVar
B3GLCT_chr13_31194975_31337276	31308331	A A	ATAAAAAA others(7): Show ATAAAAAAAAAAATT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	268	0.0037	14	c.106 others(33): Show c.1065-9223_1065-9222insTTTAAAAAAAAAAA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308356	A A	AACAAAAA others(7): Show AACAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp2 HG02818.hp2 others(1): Show HG02615.hp1 HG02717.hp2 HG02818.hp2 NA19030.hp2	a0002 a0007 a0002 a0007	a0002c0003 a0002c0007 a0007c0009 a0002c0003 a0002c0007 a0007c0009	a0002c0003t0002 a0002c0007t0023 a0007c0009t0002 a0002c0003t0002 a0002c0007t0023 a0007c0009t0002	a0002c0003t0002g0162 a0002c0003t0002g0171 a0002c0007t0023g0004 others(1): Show a0002c0003t0002g0162 a0002c0003t0002g0171 a0002c0007t0023g0004 a0007c0009t0002g0264	4	268	0.0149	14	c.106 others(33): Show c.1065-9209_1065-9208insCAAAAACAAAAACA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308362	A A	AAACAAAA others(7): Show AAACAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0114 a0001c0001t0010g0114	1	268	0.0037	14	c.106 others(33): Show c.1065-9202_1065-9201insCAAAAAAAAAACAA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18990.hp1 NA19043.hp2 HG02280.hp1 NA18990.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0011 a0001c0001t0001 a0002c0002t0011	a0001c0001t0001g0150 a0001c0001t0001g0178 a0002c0002t0011g0006 a0001c0001t0001g0150 a0001c0001t0001g0178 a0002c0002t0011g0006	3	268	0.0112	14	c.106 others(33): Show c.1065-1148_1065-1135dupTATATATATATATA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTTTATAT others(7): Show TTTTATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG02300.hp1 others(21): Show HG00099.hp1 HG00609.hp1 HG02300.hp1 HG02451.hp1 HG02735.hp1 HG02922.hp2 HG03492.hp1 HG03710.hp1 NA18747.hp2 NA18942.hp2 NA18945.hp1 NA18964.hp2 NA18968.hp1 NA18970.hp1 NA18975.hp1 NA18978.hp1 NA18986.hp1 NA18990.hp2 NA18997.hp2 NA18998.hp1 NA19057.hp1 NA19072.hp2 NA19082.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 others(4): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0016 a0002c0010t0003	a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0130 others(21): Show a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0138 a0002c0002t0002g0140 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0003g0012 a0002c0002t0003g0067 a0002c0002t0003g0079 a0002c0002t0003g0094 a0002c0002t0003g0258 a0002c0002t0004g0081 a0002c0002t0006g0141 a0002c0002t0008g0060 a0002c0002t0008g0083 a0002c0002t0008g0125 a0002c0002t0008g0143 a0002c0002t0016g0142 a0002c0010t0003g0010	24	268	0.0896	14	c.106 others(33): Show c.1065-1158_1065-1157insTTATATATATATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNT3_chr19_17790138_17818576	17792577	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG02559.hp1 HG01891.hp1 HG02486.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	3	406	0.0074	14	c.-26 others(25): Show c.-2680_-2679insAAAAAAAAAAAAAA	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding		2560		chr19	TogoVar
B3GNT3_chr19_17790138_17818576	17807111	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG00733.hp2 others(64): Show HG00544.hp1 HG00673.hp2 HG00733.hp2 HG01167.hp2 HG01169.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG02071.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18960.hp1 NA18970.hp1 NA18975.hp1 NA18990.hp2 NA18993.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19043.hp2 NA19058.hp2 NA19068.hp2 NA19074.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA20129.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0011 a0001c0001 a0001c0003 a0008c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0023 a0001c0001t0036 a0001c0003t0001 a0001c0003t0004 a0001c0003t0008 a0001c0003t0022 a0001c0003t0035 a0008c0011t0004	a0001c0001t0002g0007 a0001c0001t0002g0137 a0001c0001t0002g0280 others(41): Show a0001c0001t0002g0007 a0001c0001t0002g0137 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0288 a0001c0001t0009g0189 a0001c0001t0009g0274 a0001c0001t0010g0230 a0001c0001t0012g0182 a0001c0001t0012g0186 a0001c0001t0012g0244 a0001c0001t0015g0187 a0001c0001t0015g0275 a0001c0001t0015g0276 a0001c0001t0023g0045 a0001c0001t0036g0049 a0001c0003t0001g0105 a0001c0003t0004g0002 a0001c0003t0004g0006 a0001c0003t0004g0018 a0001c0003t0004g0074 a0001c0003t0004g0076 a0001c0003t0004g0083 a0001c0003t0004g0103 a0001c0003t0004g0104 a0001c0003t0004g0106 a0001c0003t0004g0123 a0001c0003t0004g0124 a0001c0003t0004g0136 a0001c0003t0004g0195 a0001c0003t0004g0201 a0001c0003t0004g0224 a0001c0003t0008g0002 a0001c0003t0008g0027 a0001c0003t0008g0037 a0001c0003t0008g0121 a0001c0003t0008g0198 a0001c0003t0008g0268 a0001c0003t0022g0002 a0001c0003t0022g0018 a0001c0003t0035g0183 a0008c0011t0004g0002	67	406	0.1650	14	c.-50 others(29): Show c.-50-626_-50-613dupGTGTGTGTGTGTGT	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GNT3_chr19_17790138_17818576	17813508	T T	TGATAGAT others(7): Show TGATAGATCTGAGCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0030 a0004c0005t0030	a0004c0005t0030g0237 a0004c0005t0030g0237	1	406	0.0025	14	c.13 others(25): Show c.1386_*1387insGATAGATCTGAGCA	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	3/3	1387		chr19	TogoVar
B3GNT4_chr12_122198709_122213952	122211077	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0006 a0001c0001t0025g0006	1	412	0.0024	14	c.36 others(25): Show c.3689_*3690insAAAAAAAAAAAAAA	B3GNT4	ENSG00000176383.9	transcript	ENST00000324189.5	protein_coding		2126		chr12	TogoVar
B3GNT5_chr3_183248253_183278385	183269230	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01884.hp2 others(3): Show HG01069.hp1 HG01071.hp1 HG01884.hp2 HG02109.hp2 HG04199.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0022 a0001c0001t0001g0182 a0001c0001t0001g0192 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0004g0076 a0001c0001t0008g0022	6	390	0.0154	14	c.-30 others(31): Show c.-301-263_-301-250dupTTTTTTTTTTTTTT	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNTL1_chr17_82937149_83056770	82940219	G G	GCACACAC others(7): Show GCACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00621.hp2 others(21): Show HG00099.hp1 HG00558.hp1 HG00621.hp2 HG01243.hp2 HG01515.hp2 HG01891.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02886.hp2 HG03017.hp1 HG03486.hp2 HG04199.hp1 NA18947.hp1 NA18953.hp2 NA18959.hp2 NA18964.hp2 NA18965.hp2 NA18971.hp1 NA19010.hp1 NA19081.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0011 a0001c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0027 a0001c0001t0036 a0001c0002t0002 a0001c0002t0019 a0001c0002t0025 a0001c0003t0004 a0001c0006t0033 a0001c0008t0004 a0001c0011t0011 a0001c0014t0002	a0001c0001t0002g0133 a0001c0001t0002g0156 a0001c0001t0002g0163 others(21): Show a0001c0001t0002g0133 a0001c0001t0002g0156 a0001c0001t0002g0163 a0001c0001t0002g0174 a0001c0001t0002g0178 a0001c0001t0004g0247 a0001c0001t0019g0181 a0001c0001t0027g0184 a0001c0001t0036g0244 a0001c0002t0002g0065 a0001c0002t0002g0072 a0001c0002t0002g0086 a0001c0002t0002g0088 a0001c0002t0002g0094 a0001c0002t0002g0109 a0001c0002t0019g0115 a0001c0002t0025g0098 a0001c0003t0004g0190 a0001c0003t0004g0201 a0001c0006t0033g0044 a0001c0008t0004g0214 a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0014t0002g0011	24	266	0.0902	14	c.38 others(25): Show c.3854_*3855insTGTGTGTGTGTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1929		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82940221	G G	GCACACAC others(7): Show GCACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03942.hp1 HG03669.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0084 a0001c0002t0002g0074 a0001c0002t0002g0084	2	266	0.0075	14	c.38 others(25): Show c.3839_*3852dupTGTGTGTGTGTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1927		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82946569	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01167.hp2 HG01169.hp1 others(8): Show HG00597.hp1 HG01167.hp2 HG01169.hp1 HG01261.hp1 HG02055.hp1 HG02056.hp1 HG02451.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0011 a0001c0013 a0002c0022	a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 others(5): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0003t0015 a0001c0006t0002 a0001c0011t0012 a0001c0013t0012 a0002c0022t0003	a0001c0001t0004g0253 a0001c0001t0012g0148 a0001c0001t0015g0249 others(7): Show a0001c0001t0004g0253 a0001c0001t0012g0148 a0001c0001t0015g0249 a0001c0003t0015g0221 a0001c0006t0002g0007 a0001c0011t0012g0142 a0001c0013t0012g0001 a0001c0013t0012g0013 a0001c0013t0012g0014 a0002c0022t0003g0029	11	266	0.0414	14	c.24 others(29): Show c.24+296_*24+309dupACACACACACACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	12/12			chr17	TogoVar
B4GALNT2_chr17_49127769_49181840	49178897	A A	AGGATGGA others(7): Show AGGATGGACGAAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	380	0.0026	14	c.91 others(25): Show c.9169_*9170insGGATGGACGAAGGT	B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding		2058		chr17	TogoVar
B4GALNT3_chr12_454939_568509	500865	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0374 a0001c0001t0001g0374	1	394	0.0025	14	c.170 others(33): Show c.170-34294_170-34281dupTTTTTTTTTTTTTT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511455	T T	TCCACCTT others(7): Show TCCACCTTCTTCCAC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0335 a0002c0003t0001g0335	1	394	0.0025	14	c.170 others(33): Show c.170-23710_170-23709insCACCTTCTTCCACC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511482	T T	TCTTCCAC others(7): Show TCTTCCACCTTCCAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG00735.hp2 others(16): Show HG00280.hp1 HG00733.hp2 HG00735.hp2 HG01109.hp2 HG01167.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG02273.hp2 HG02615.hp1 HG02809.hp2 HG02818.hp2 HG03041.hp1 HG03195.hp2 HG03491.hp2 HG03540.hp2 HG04204.hp2 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0042 others(6): Show a0001c0001 a0001c0002 a0001c0042 a0002c0003 a0003c0004 a0005c0025 a0006c0007 a0008c0012 a0008c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(16): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0016 a0001c0001t0058 a0001c0001t0061 a0001c0001t0062 a0001c0002t0004 a0001c0002t0006 a0001c0002t0036 a0001c0042t0002 a0002c0003t0005 a0002c0003t0008 a0003c0004t0002 a0003c0004t0005 a0005c0025t0002 a0006c0007t0047 a0008c0012t0010 a0008c0014t0030	a0001c0001t0002g0054 a0001c0001t0004g0298 a0001c0001t0013g0391 others(16): Show a0001c0001t0002g0054 a0001c0001t0004g0298 a0001c0001t0013g0391 a0001c0001t0016g0282 a0001c0001t0058g0121 a0001c0001t0061g0166 a0001c0001t0062g0382 a0001c0002t0004g0139 a0001c0002t0006g0137 a0001c0002t0036g0138 a0001c0042t0002g0203 a0002c0003t0005g0341 a0002c0003t0008g0078 a0003c0004t0002g0285 a0003c0004t0005g0174 a0005c0025t0002g0193 a0006c0007t0047g0167 a0008c0012t0010g0389 a0008c0014t0030g0095	19	394	0.0482	14	c.170 others(33): Show c.170-23665_170-23652dupCACCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511802	T T	TCTTCCAC others(7): Show TCTTCCACCTTCCAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18959.hp1 NA18984.hp2 NA18612.hp2 NA18959.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 a0001c0001t0001 a0001c0001t0003 a0001c0001t0023	a0001c0001t0001g0351 a0001c0001t0003g0350 a0001c0001t0023g0102 a0001c0001t0001g0351 a0001c0001t0003g0350 a0001c0001t0023g0102	3	394	0.0076	14	c.170 others(33): Show c.170-23353_170-23352insCACCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511836	T T	TCTTCCAC others(7): Show TCTTCCACCTTCCAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18984.hp2 NA18612.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0351 a0001c0001t0003g0350 a0001c0001t0001g0351 a0001c0001t0003g0350	2	394	0.0051	14	c.170 others(33): Show c.170-23318_170-23305dupCACCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	512192	C C	CACCTTCC others(7): Show CACCTTCCGCCTTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG01109.hp2 others(11): Show HG00280.hp1 HG00733.hp2 HG01109.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG02451.hp2 HG02615.hp1 HG03491.hp2 HG03540.hp2 HG04204.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0006c0007 a0008c0014	a0001c0001t0016 a0001c0001t0058 a0001c0001t0062 others(11): Show a0001c0001t0016 a0001c0001t0058 a0001c0001t0062 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0036 a0002c0003t0005 a0002c0003t0008 a0003c0004t0002 a0003c0004t0004 a0003c0004t0005 a0006c0007t0047 a0008c0014t0030	a0001c0001t0016g0282 a0001c0001t0058g0121 a0001c0001t0062g0382 others(11): Show a0001c0001t0016g0282 a0001c0001t0058g0121 a0001c0001t0062g0382 a0001c0002t0003g0035 a0001c0002t0004g0139 a0001c0002t0006g0137 a0001c0002t0036g0138 a0002c0003t0005g0341 a0002c0003t0008g0078 a0003c0004t0002g0285 a0003c0004t0004g0390 a0003c0004t0005g0174 a0006c0007t0047g0167 a0008c0014t0030g0095	14	394	0.0355	14	c.170 others(33): Show c.170-22974_170-22973insACCTTCCGCCTTCT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19			chr12	TogoVar

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