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
B3GALNT2_chr1_235442190_235509452	235471377	T T	TAAAATAA others(8): Show TAAAATAATGTAGGCA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0093 a0001c0001t0035g0093	1	344	0.0029	15	c.652 others(30): Show c.652-432_652-418dupTGCCTACATTATTTT		B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11						chr1	TogoVar
B3GALNT2_chr1_235442190_235509452	235474987	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	344	0.0029	15	c.652 others(32): Show c.652-4028_652-4027insAAATATATATATATA		B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11						chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167385493	A A	ACCCATTA others(8): Show ACCCATTACTTGGTAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0083 a0001c0001t0012g0083	1	118	0.0085	15	c.-51 others(36): Show c.-511+92159_-511+92160insCCCATTACTTGGTAC		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4						chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167612367	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02109.hp2 HG02132.hp2 others(7): Show HG00673.hp1 HG02109.hp2 HG02132.hp2 HG02258.hp2 HG02615.hp1 HG03098.hp1 HG03453.hp2 HG06807.hp2 NA19060.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0016 a0001c0001t0019 a0001c0001t0030 a0001c0003t0044	a0001c0001t0001g0015 a0001c0001t0001g0068 a0001c0001t0002g0010 others(7): Show a0001c0001t0001g0015 a0001c0001t0001g0068 a0001c0001t0002g0010 a0001c0001t0002g0073 a0001c0001t0005g0024 a0001c0001t0011g0050 a0001c0001t0016g0077 a0001c0001t0019g0020 a0001c0001t0030g0072 a0001c0003t0044g0115	10	118	0.0848	15	c.-40 others(36): Show c.-409-34527_-409-34513dupATTATTATTATTATT		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT5_chr21_39607940_39678137	39639346	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0229 a0002c0002t0003g0229	1	336	0.0030	15	c.-39 others(34): Show c.-391-7042_-391-7041insTTTCTTTCTTTTTTC		B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639350	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0053 a0002c0002t0004g0053	1	336	0.0030	15	c.-39 others(34): Show c.-391-7042_-391-7041insTTTCTTTCTTTCTTT		B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3						chr21	TogoVar
B3GALT6_chr1_1227237_1240041	1232289	T T	TGCGGCGG others(8): Show TGCGGCGGGCGTGGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02622.hp2 HG02895.hp2 HG02897.hp1 HG02622.hp2 HG02895.hp2 HG02897.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0000 a0003c0005t0001g0000	3	366	0.0082	15	c.22_ others(20): Show c.22_36dupTGGCGGCGGCGGGCG	p.Trp others(10): Show p.Trp8_Ala12dup	B3GALT6	ENSG00000176022.7	transcript	ENST00000379198.5	protein_coding	1/1	79/2805	37/990	13/329		INFO_REALIGN_3_PRIME	chr1	TogoVar
B3GAT1_chr11_134373508_134417242	134411984	C C	CGCCCGCC others(8): Show CGCCCGCCCGCCCGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01256.hp1 HG01257.hp1 HG01258.hp2 others(31): Show HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01934.hp1 HG02109.hp1 HG02451.hp2 HG02572.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18962.hp2 NA19000.hp2 NA19011.hp2 NA19043.hp2 NA19063.hp2 NA19065.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 others(5): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0001t0047 a0001c0003t0004 a0001c0003t0048	a0001c0001t0004g0001 a0001c0001t0004g0011 a0001c0001t0004g0248 others(28): Show a0001c0001t0004g0001 a0001c0001t0004g0011 a0001c0001t0004g0248 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0264 a0001c0001t0004g0269 a0001c0001t0012g0263 a0001c0001t0012g0265 a0001c0001t0012g0266 a0001c0001t0012g0270 a0001c0001t0014g0053 a0001c0001t0014g0054 a0001c0001t0014g0055 a0001c0001t0018g0023 a0001c0001t0018g0024 a0001c0001t0022g0257 a0001c0001t0022g0258 a0001c0001t0047g0247 a0001c0003t0004g0249 a0001c0003t0004g0250 a0001c0003t0004g0251 a0001c0003t0004g0267 a0001c0003t0048g0268	34	352	0.0966	15	c.-46 others(24): Show c.-460_-459insTGCGGGCGGGCGGGC		B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/6				24326		chr11	TogoVar
B3GLCT_chr13_31194975_31337276	31213610	C C	CCCCCCCA others(8): Show CCCCCCCACCCCCCCA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	268	0.0037	15	c.71- others(30): Show c.71-1436_71-1435insCACCCCCCCACCCCC		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31213616	A A	ACCCCCCC others(8): Show ACCCCCCCACCCCCCC	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0083 a0002c0002t0008g0083	1	268	0.0037	15	c.71- others(30): Show c.71-1431_71-1430insCCCACCCCCCCCCCC		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31253595	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0177 a0002c0002t0004g0177	1	268	0.0037	15	c.459 others(32): Show c.459+5641_459+5655dupAAAAAAAAAAAAAAA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308332	T T	TAAAAAAA others(8): Show TAAAAAAAAAAATTTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0249 a0001c0001t0015g0249	1	268	0.0037	15	c.106 others(34): Show c.1065-9223_1065-9222insTTTAAAAAAAAAAAA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	268	0.0037	15	c.106 others(34): Show c.1065-1159_1065-1158insATATATATATATATA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14						chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316431	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18906.hp2 HG02280.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0185 a0001c0001t0004g0218 a0001c0001t0004g0185 a0001c0001t0004g0218	2	268	0.0075	15	c.106 others(34): Show c.1065-1135_1065-1134insTATATATATATATAT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14						chr13	TogoVar
B3GNT5_chr3_183248253_183278385	183269230	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02080.hp2 HG01175.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0019 a0001c0001t0008 a0001c0001t0019	a0001c0001t0008g0181 a0001c0001t0019g0176 a0001c0001t0008g0181 a0001c0001t0019g0176	2	390	0.0051	15	c.-30 others(32): Show c.-301-264_-301-250dupTTTTTTTTTTTTTTT		B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNTL1_chr17_82937149_83056770	83003187	C C	CTCCCACT others(8): Show CTCCCACTCTCCGCAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01361.hp1 others(8): Show HG00408.hp1 HG00438.hp1 HG01361.hp1 HG02015.hp2 HG02027.hp2 HG02132.hp2 HG02165.hp2 HG02896.hp1 HG03516.hp1 NA18965.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0002c0005 a0002c0009	a0001c0001t0002 a0001c0001t0032 a0001c0002t0002 others(5): Show a0001c0001t0002 a0001c0001t0032 a0001c0002t0002 a0001c0003t0020 a0001c0014t0001 a0002c0005t0003 a0002c0009t0003 a0002c0009t0013	a0001c0001t0002g0058 a0001c0001t0032g0162 a0001c0002t0002g0086 others(8): Show a0001c0001t0002g0058 a0001c0001t0032g0162 a0001c0002t0002g0086 a0001c0002t0002g0095 a0001c0003t0020g0188 a0001c0003t0020g0200 a0001c0014t0001g0012 a0002c0005t0003g0056 a0002c0005t0003g0057 a0002c0009t0003g0090 a0002c0009t0013g0087	11	266	0.0414	15	c.459 others(32): Show c.459+1927_459+1928insCTGCGGAGAGTGGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003187	C C	CTCCCACT others(8): Show CTCCCACTCTCTGCAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18966.hp2 NA19070.hp1 HG02896.hp2 NA18966.hp2 NA19070.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0001 a0001c0006t0011 a0001c0004t0001 a0001c0006t0011	a0001c0004t0001g0032 a0001c0004t0001g0039 a0001c0006t0011g0027 a0001c0004t0001g0032 a0001c0004t0001g0039 a0001c0006t0011g0027	3	266	0.0113	15	c.459 others(32): Show c.459+1927_459+1928insCTGCAGAGAGTGGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B4GALNT3_chr12_454939_568509	500865	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18747.hp2 NA19056.hp2 HG02258.hp2 NA18747.hp2 NA19056.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0008 a0001c0001 a0001c0002 a0007c0008	a0001c0001t0001 a0001c0002t0005 a0007c0008t0017 a0001c0001t0001 a0001c0002t0005 a0007c0008t0017	a0001c0001t0001g0243 a0001c0002t0005g0075 a0007c0008t0017g0178 a0001c0001t0001g0243 a0001c0002t0005g0075 a0007c0008t0017g0178	3	394	0.0076	15	c.170 others(34): Show c.170-34295_170-34281dupTTTTTTTTTTTTTTT		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511754	T T	TCTGTCTT others(8): Show TCTGTCTTCCACCTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02145.hp1 others(10): Show HG01884.hp1 HG01884.hp2 HG02145.hp1 HG02258.hp2 HG02559.hp1 HG02622.hp2 HG02723.hp2 HG02886.hp2 HG03130.hp2 NA18906.hp1 NA19030.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0019	a0001c0001 a0001c0002 a0001c0013 others(6): Show a0001c0001 a0001c0002 a0001c0013 a0002c0003 a0002c0034 a0004c0027 a0004c0028 a0007c0008 a0019c0037	a0001c0001t0017 a0001c0002t0013 a0001c0013t0002 others(8): Show a0001c0001t0017 a0001c0002t0013 a0001c0013t0002 a0002c0003t0090 a0002c0034t0072 a0004c0027t0078 a0004c0028t0004 a0007c0008t0007 a0007c0008t0017 a0007c0008t0027 a0019c0037t0002	a0001c0001t0017g0199 a0001c0002t0013g0175 a0001c0013t0002g0177 others(10): Show a0001c0001t0017g0199 a0001c0002t0013g0175 a0001c0013t0002g0177 a0002c0003t0090g0143 a0002c0034t0072g0210 a0004c0027t0078g0276 a0004c0028t0004g0207 a0007c0008t0007g0187 a0007c0008t0017g0178 a0007c0008t0027g0142 a0007c0008t0027g0144 a0007c0008t0027g0145 a0019c0037t0002g0227	13	394	0.0330	15	c.170 others(34): Show c.170-23410_170-23409insGTCTTCCACCTTCCT		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511802	T T	TCCTTCCA others(8): Show TCCTTCCACCTTCCAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18994.hp2 HG00423.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0106 a0001c0001t0021g0349 a0001c0001t0004g0106 a0001c0001t0021g0349	2	394	0.0051	15	c.170 others(34): Show c.170-23363_170-23362insCTTCCACCTTCCACC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	545802	A A	AGAGAGGA others(8): Show AGAGAGGAGTGGGGAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	394	0.0025	15	c.639 others(30): Show c.639+334_639+335insAGAGGAGTGGGGAGG		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	366315	T T	TCACCCCA others(8): Show TCACCCCACCAGACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0034 a0010c0017t0001g0034	1	184	0.0054	15	c.-34 others(26): Show c.-3489_-3488insCACCCCACCAGACAG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding					3183		chr11	TogoVar
B4GALNT4_chr11_364499_387117	369395	G G	GCCCCGCC others(8): Show GCCCCGCCCCGCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01106.hp1 HG01358.hp2 others(4): Show HG00642.hp1 HG01106.hp1 HG01358.hp2 HG02630.hp2 HG03834.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0014 others(3): Show a0001c0001 a0001c0003 a0001c0014 a0001c0021 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0003t0004 a0001c0014t0001 others(3): Show a0001c0001t0001 a0001c0003t0004 a0001c0014t0001 a0001c0021t0003 a0002c0002t0001 a0002c0007t0001	a0001c0001t0001g0090 a0001c0003t0004g0010 a0001c0014t0001g0072 others(4): Show a0001c0001t0001g0090 a0001c0003t0004g0010 a0001c0014t0001g0072 a0001c0021t0003g0019 a0002c0002t0001g0117 a0002c0002t0001g0150 a0002c0007t0001g0125	7	184	0.0380	15	c.-40 others(24): Show c.-409_-408insCCCCGCCCCGCCTCC		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding					103		chr11	TogoVar
B4GALNT4_chr11_364499_387117	373287	G G	GCAAGGTA others(8): Show GCAAGGTACCCCCACC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0003 a0015c0022t0003	a0015c0022t0003g0018 a0015c0022t0003g0018	1	184	0.0054	15	c.634 others(25): Show c.634_636+12dupAAGGTACCCCCACCC		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	6/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374409	T T	TGGGGGGC others(8): Show TGGGGGGCAGCACGTG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0147 a0002c0002t0001g0147	1	184	0.0054	15	c.783 others(30): Show c.783+594_783+595insTGGGGGGGCAGCACG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374733	A A	AAGGGAGG others(8): Show AAGGGAGGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0157 a0003c0006t0001g0157	1	184	0.0054	15	c.784 others(30): Show c.784-714_784-713insGAGGGAGGGAGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374745	A A	AGGAAGGG others(8): Show AGGAAGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0033 a0008c0013t0001g0033	1	184	0.0054	15	c.784 others(30): Show c.784-702_784-701insTGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374790	A A	AGGAAGGG others(8): Show AGGAAGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0125 a0002c0007t0001g0125	1	184	0.0054	15	c.784 others(30): Show c.784-657_784-656insTGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374820	A A	AGGAAGGG others(8): Show AGGAAGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	184	0.0054	15	c.784 others(30): Show c.784-627_784-626insTGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374838	A A	AAGGGAGG others(8): Show AAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0037 a0004c0037	a0004c0037t0001 a0004c0037t0001	a0004c0037t0001g0024 a0004c0037t0001g0024	1	184	0.0054	15	c.784 others(30): Show c.784-619_784-605dupGAGGGAGGGAGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374861	G G	GAGGGAGG others(8): Show GAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03831.hp2 HG02015.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0070 a0001c0003t0001g0099 a0001c0001t0001g0070 a0001c0003t0001g0099	2	184	0.0109	15	c.784 others(30): Show c.784-588_784-574dupAGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(8): Show GAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0118 a0005c0009t0001g0118	1	184	0.0054	15	c.784 others(30): Show c.784-569_784-555dupAGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374882	G G	GGGAGGGA others(8): Show GGGAGGGAGGAGGAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0004 a0018c0026t0004	a0018c0026t0004g0042 a0018c0026t0004g0042	1	184	0.0054	15	c.784 others(30): Show c.784-565_784-564insAGGAGGGAGGAGGAA		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374899	G G	GAGGGAGG others(8): Show GAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02258.hp1 HG02258.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0047 a0002c0004t0001g0048	2	184	0.0109	15	c.784 others(30): Show c.784-535_784-521dupAGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374933	G G	GAGGGAGG others(8): Show GAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	184	0.0054	15	c.784 others(30): Show c.784-516_784-502dupAGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374948	A A	AAGGGAGG others(8): Show AAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0156	1	184	0.0054	15	c.784 others(30): Show c.784-509_784-495dupGAGGGAGGGAGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375032	T T	TGGAAGGG others(8): Show TGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19064.hp1 NA19002.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0031 a0001c0001t0001g0032	2	184	0.0109	15	c.784 others(30): Show c.784-414_784-400dupAGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375062	T T	TGGAAGGG others(8): Show TGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0033 a0008c0013t0001g0033	1	184	0.0054	15	c.784 others(30): Show c.784-384_784-370dupAGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375092	T T	TGGAAGGG others(8): Show TGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02273.hp1 HG01952.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0086 a0001c0005t0002g0082 a0001c0001t0001g0086 a0001c0005t0002g0082	2	184	0.0109	15	c.784 others(30): Show c.784-309_784-295dupAGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375107	A A	AGGAAGGG others(8): Show AGGAAGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0099 a0001c0003t0001g0099	1	184	0.0054	15	c.784 others(30): Show c.784-340_784-339insTGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375167	T T	TGGAAGGG others(8): Show TGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0004 a0018c0026t0004	a0018c0026t0004g0042 a0018c0026t0004g0042	1	184	0.0054	15	c.784 others(30): Show c.784-259_784-245dupGGGAGGGAGGAGGAA		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375170	A A	AAGGGAGG others(8): Show AAGGGAGGGAGGAGGC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0001 a0017c0025t0001	a0017c0025t0001g0110 a0017c0025t0001g0110	1	184	0.0054	15	c.784 others(30): Show c.784-277_784-276insCAGGGAGGGAGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375209	A A	AGGAGGAA others(8): Show AGGAGGAAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0001 a0014c0020t0001	a0014c0020t0001g0096 a0014c0020t0001g0096	1	184	0.0054	15	c.784 others(30): Show c.784-245_784-244insGGGAGGGTGGAGGAA		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33152309	A A	AATAACAT others(8): Show AATAACATAACATAAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02071.hp1 NA20300.hp1 HG01993.hp2 HG02071.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0080 a0001c0001t0003g0126 a0001c0001t0007g0062 a0001c0001t0001g0080 a0001c0001t0003g0126 a0001c0001t0007g0062	3	366	0.0082	15	c.412 others(34): Show c.412+14434_412+14448dupGTTATGTTATGTTAT		B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5						chr9	TogoVar
B4GALT5_chr20_49627945_49718878	49643922	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0177 a0001c0001t0006g0177	1	364	0.0028	15	c.365 others(30): Show c.365-287_365-273dupAAAAAAAAAAAAAAA		B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	3/8						chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49703729	A A	AAAAAAAA others(8): Show AAAAAAAAATAATAAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG03471.hp2 others(1): Show HG02451.hp1 HG02486.hp2 HG03471.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0038 a0001c0001t0039 a0001c0001t0021 a0001c0001t0038 a0001c0001t0039	a0001c0001t0021g0185 a0001c0001t0021g0213 a0001c0001t0038g0214 others(1): Show a0001c0001t0021g0185 a0001c0001t0021g0213 a0001c0001t0038g0214 a0001c0001t0039g0184	4	364	0.0110	15	c.115 others(32): Show c.115+9846_115+9847insATTATTATTTTTTTT		B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8						chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49703730	A A	AAAAAAAA others(8): Show AAAAAAAAAAAATAAT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0194 a0001c0001t0004g0194	1	364	0.0028	15	c.115 others(32): Show c.115+9845_115+9846insATTATTTTTTTTTTT		B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8						chr20	TogoVar
BABAM2_chr2_27885729_28343901	27983942	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG00741.hp2 others(18): Show HG00639.hp2 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01243.hp1 HG01891.hp1 HG02027.hp1 HG02040.hp2 HG02155.hp1 HG02258.hp1 HG02451.hp2 HG02602.hp2 HG02735.hp2 HG03209.hp1 HG03453.hp1 HG03688.hp2 NA18968.hp1 NA18969.hp2 NA18974.hp2 NA18982.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0001g0052 others(18): Show a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0125 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0002g0003 a0001c0001t0002g0028 a0001c0001t0002g0064 a0001c0001t0002g0077 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0151 a0001c0001t0002g0158 a0001c0001t0003g0067	21	158	0.1329	15	c.206 others(32): Show c.206-4046_206-4032dupTTTTTTTTTTTTTTT		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28040294	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp1 HG02258.hp2 others(2): Show HG00741.hp1 HG01099.hp1 HG02258.hp2 HG03453.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0070 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0083	5	158	0.0317	15	c.496 others(32): Show c.496-5421_496-5407dupTTTTTTTTTTTTTTT		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28103301	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG02280.hp2 others(3): Show HG00735.hp1 HG01099.hp1 HG02280.hp2 HG02723.hp2 HG02976.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0088 others(3): Show a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132	6	158	0.0380	15	c.571 others(34): Show c.571-25955_571-25941dupGTTTTGTTTTGTTTT		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr2	TogoVar

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