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
B4GALNT3_chr12_454939_568509	460263	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0089 a0001c0002t0089	a0001c0002t0089g0032 a0001c0002t0089g0032	1	394	0.0025	0	c.-11 others(4): Show c.-114A>G	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/20	114		chr12	TogoVar
B4GALNT4_chr11_364499_387117	369514	C C	CTCCGCGG CTCCGCGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01074.hp2 others(21): Show HG00323.hp2 HG01070.hp1 HG01074.hp2 HG01346.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02273.hp2 HG02300.hp2 HG02559.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG03139.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA18522.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0018 a0019 a0020	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0023 a0002c0004 a0004c0012 a0018c0026 a0019c0028 a0020c0027	a0001c0001t0002 a0001c0001t0004 a0001c0003t0002 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0003t0002 a0001c0003t0004 a0001c0005t0002 a0001c0023t0002 a0002c0004t0002 a0004c0012t0002 a0018c0026t0004 a0019c0028t0004 a0020c0027t0004	a0001c0001t0002g0100 a0001c0001t0004g0013 a0001c0003t0002g0169 others(21): Show a0001c0001t0002g0100 a0001c0001t0004g0013 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0171 a0001c0003t0002g0172 a0001c0003t0002g0173 a0001c0003t0002g0174 a0001c0003t0004g0010 a0001c0003t0004g0011 a0001c0003t0004g0014 a0001c0005t0002g0081 a0001c0005t0002g0082 a0001c0005t0002g0083 a0001c0005t0002g0085 a0001c0005t0002g0101 a0001c0023t0002g0041 a0002c0004t0002g0128 a0002c0004t0002g0129 a0004c0012t0002g0022 a0004c0012t0002g0109 a0018c0026t0004g0042 a0019c0028t0004g0007 a0020c0027t0004g0008	24	184	0.1304	7	c.-29 others(16): Show c.-290_-289insTCCGCGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	1/20	289		chr11	TogoVar
B4GALNT4_chr11_364499_387117	369725	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0153 a0002c0002t0006g0153	1	184	0.0054	0	c.-79 others(3): Show c.-79G>A	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	1/20	79		chr11	TogoVar
B4GALNT4_chr11_364499_387117	369796	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00642.hp1 HG01106.hp2 HG01891.hp1 others(11): Show HG00642.hp1 HG01106.hp2 HG01891.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG03041.hp2 HG03139.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp1 NA18522.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0015 a0018 a0019 a0020	a0001c0001 a0001c0003 a0001c0021 others(7): Show a0001c0001 a0001c0003 a0001c0021 a0002c0002 a0002c0034 a0007c0011 a0015c0022 a0018c0026 a0019c0028 a0020c0027	a0001c0001t0003 a0001c0001t0004 a0001c0003t0003 others(9): Show a0001c0001t0003 a0001c0001t0004 a0001c0003t0003 a0001c0003t0004 a0001c0021t0003 a0002c0002t0003 a0002c0034t0003 a0007c0011t0003 a0015c0022t0003 a0018c0026t0004 a0019c0028t0004 a0020c0027t0004	a0001c0001t0003g0016 a0001c0001t0004g0013 a0001c0003t0003g0015 others(11): Show a0001c0001t0003g0016 a0001c0001t0004g0013 a0001c0003t0003g0015 a0001c0003t0004g0010 a0001c0003t0004g0011 a0001c0003t0004g0014 a0001c0021t0003g0019 a0002c0002t0003g0140 a0002c0034t0003g0017 a0007c0011t0003g0020 a0015c0022t0003g0018 a0018c0026t0004g0042 a0019c0028t0004g0007 a0020c0027t0004g0008	14	184	0.0761	0	c.-8C others(2): Show c.-8C>A	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	1/20	8		chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33167229	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00735.hp2 HG01993.hp1 HG02293.hp1 HG00735.hp2 HG01993.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0351 a0001c0001t0025g0352 a0001c0001t0025g0353 a0001c0001t0025g0351 a0001c0001t0025g0352 a0001c0001t0025g0353	3	366	0.0082	0	c.-60 others(3): Show c.-60C>T	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/6	60		chr9	TogoVar
B4GALT2_chr1_43974210_43996168	43979336	C C	CGCG CGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG01516.hp2 others(10): Show HG01099.hp2 HG01106.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01981.hp2 HG02145.hp2 HG02615.hp1 HG02809.hp2 HG02976.hp2 HG03195.hp2 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0001t0008 a0001c0005t0005 a0001c0001t0005 a0001c0001t0008 a0001c0005t0005	a0001c0001t0005g0007 a0001c0001t0005g0020 a0001c0001t0005g0135 others(6): Show a0001c0001t0005g0007 a0001c0001t0005g0020 a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0005g0139 a0001c0001t0008g0011 a0001c0005t0005g0005 a0001c0005t0005g0022 a0001c0005t0005g0134	13	406	0.0320	3	c.-20 others(12): Show c.-202_-200dupCGG	B4GALT2	ENSG00000117411.18	transcript	ENST00000372324.6	protein_coding	1/7	1796	INFO_REALIGN_3_PRIME	chr1	TogoVar
B4GALT2_chr1_43974210_43996168	43979336	CGCGGCGG others(2): Show CGCGGCGGCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00642.hp1 others(42): Show HG00438.hp2 HG00558.hp2 HG00642.hp1 HG01074.hp1 HG01123.hp1 HG01496.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02523.hp1 HG03540.hp2 HG03669.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18942.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18973.hp1 NA18980.hp1 NA18983.hp1 NA18992.hp1 NA18993.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19057.hp2 NA19060.hp1 NA19066.hp2 NA19074.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA20905.hp1	a0000 a0002 a0000 a0002	a0000c0007 a0002c0002 a0002c0003 a0000c0007 a0002c0002 a0002c0003	a0000c0007t0003 a0002c0002t0003 a0002c0003t0003 a0000c0007t0003 a0002c0002t0003 a0002c0003t0003	a0000c0007t0003g0008 a0002c0002t0003g0002 a0002c0002t0003g0008 others(20): Show a0000c0007t0003g0008 a0002c0002t0003g0002 a0002c0002t0003g0008 a0002c0002t0003g0026 a0002c0002t0003g0031 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0081 a0002c0003t0003g0002 a0002c0003t0003g0032 a0002c0003t0003g0033 a0002c0003t0003g0065 a0002c0003t0003g0066 a0002c0003t0003g0070 a0002c0003t0003g0076	45	406	0.1108	-9	c.-20 others(18): Show c.-208_-200delCGGCGGCGG	B4GALT2	ENSG00000117411.18	transcript	ENST00000372324.6	protein_coding	1/7	1797	INFO_REALIGN_3_PRIME	chr1	TogoVar
B4GALT2_chr1_43974210_43996168	43981139	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0049 a0001c0001t0012g0049	1	406	0.0025	0	c.-22 others(3): Show c.-22C>G	B4GALT2	ENSG00000117411.18	transcript	ENST00000372324.6	protein_coding	2/7	22		chr1	TogoVar
B4GALT3_chr1_161166310_161182507	161177463	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	374	0.0027	0	c.-20 others(4): Show c.-201G>A	B4GALT3	ENSG00000158850.15	transcript	ENST00000319769.10	protein_coding	1/8	1403		chr1	TogoVar
B4GALT3_chr1_161166310_161182507	161177467	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0021 a0001c0003t0003g0021	1	374	0.0027	0	c.-20 others(4): Show c.-205G>C	B4GALT3	ENSG00000158850.15	transcript	ENST00000319769.10	protein_coding	1/8	1407		chr1	TogoVar
B4GALT3_chr1_161166310_161182507	161177471	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0048 a0001c0001t0007g0048	1	374	0.0027	0	c.-20 others(4): Show c.-209G>T	B4GALT3	ENSG00000158850.15	transcript	ENST00000319769.10	protein_coding	1/8	1411		chr1	TogoVar
B4GALT4_chr3_119206742_119245878	119230131	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03041.hp2 HG03209.hp2 NA18522.hp1 HG03041.hp2 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0035 a0001c0005t0010g0055 a0001c0005t0010g0035 a0001c0005t0010g0055	3	436	0.0069	0	c.-32 others(3): Show c.-32G>T	B4GALT4	ENSG00000121578.13	transcript	ENST00000393765.7	protein_coding	3/8	32		chr3	TogoVar
B4GALT4_chr3_119206742_119245878	119236988	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0119 a0002c0002t0015g0119	1	436	0.0023	0	c.-28 others(4): Show c.-281G>A	B4GALT4	ENSG00000121578.13	transcript	ENST00000393765.7	protein_coding	2/8	6889		chr3	TogoVar
B4GALT4_chr3_119206742_119245878	119237006	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03041.hp2 HG03209.hp2 NA18522.hp1 HG03041.hp2 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0035 a0001c0005t0010g0055 a0001c0005t0010g0035 a0001c0005t0010g0055	3	436	0.0069	0	c.-29 others(4): Show c.-299A>G	B4GALT4	ENSG00000121578.13	transcript	ENST00000393765.7	protein_coding	2/8	6907		chr3	TogoVar
B4GALT4_chr3_119206742_119245878	119240874	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0223 a0001c0003t0020g0223	1	436	0.0023	0	c.-38 others(4): Show c.-388C>G	B4GALT4	ENSG00000121578.13	transcript	ENST00000393765.7	protein_coding	1/8	10775		chr3	TogoVar
B4GALT5_chr20_49627945_49718878	49713810	CG CG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01952.hp2 NA18944.hp1 NA18962.hp2 others(3): Show HG01952.hp2 NA18944.hp1 NA18962.hp2 NA18971.hp2 NA19003.hp2 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0059 a0001c0003t0011 a0001c0003t0059	a0001c0003t0011g0358 a0001c0003t0011g0359 a0001c0003t0011g0361 others(3): Show a0001c0003t0011g0358 a0001c0003t0011g0359 a0001c0003t0011g0361 a0001c0003t0011g0362 a0001c0003t0011g0363 a0001c0003t0059g0360	6	364	0.0165	-1	c.-12 others(5): Show c.-121delC	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/9	121		chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49713855	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0001 a0001c0001t0029g0001	1	364	0.0028	0	c.-16 others(4): Show c.-165G>C	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/9	165		chr20	TogoVar
B4GALT6_chr18_31617246_31689581	31684445	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04204.hp2 NA19085.hp2 HG04204.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0020 a0001c0001t0019 a0001c0001t0020	a0001c0001t0019g0021 a0001c0001t0020g0020 a0001c0001t0019g0021 a0001c0001t0020g0020	2	306	0.0065	0	c.-19 others(3): Show c.-19G>T	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding	1/9	19		chr18	TogoVar
B4GALT6_chr18_31617246_31689581	31684535	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04204.hp2 NA19085.hp2 HG04204.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0020 a0001c0001t0019 a0001c0001t0020	a0001c0001t0019g0021 a0001c0001t0020g0020 a0001c0001t0019g0021 a0001c0001t0020g0020	2	306	0.0065	0	c.-10 others(4): Show c.-109C>A	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding	1/9	109		chr18	TogoVar
B4GALT6_chr18_31617246_31689581	31684563	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02015.hp1 NA18986.hp2 NA19005.hp2 HG02015.hp1 NA18986.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0038 a0001c0001t0016 a0001c0001t0038	a0001c0001t0016g0286 a0001c0001t0016g0287 a0001c0001t0038g0285 a0001c0001t0016g0286 a0001c0001t0016g0287 a0001c0001t0038g0285	3	306	0.0098	0	c.-13 others(4): Show c.-137C>G	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding	1/9	137		chr18	TogoVar
B4GALT6_chr18_31617246_31689581	31684572	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02723.hp1 HG03098.hp2 NA18522.hp2 others(2): Show HG02723.hp1 HG03098.hp2 NA18522.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018	a0001c0001t0011g0015 a0001c0001t0011g0017 a0001c0001t0011g0018 others(2): Show a0001c0001t0011g0015 a0001c0001t0011g0017 a0001c0001t0011g0018 a0001c0001t0017g0016 a0001c0001t0018g0019	5	306	0.0163	0	c.-14 others(4): Show c.-146G>C	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding	1/9	146		chr18	TogoVar
B4GALT7_chr5_177595132_177615330	177600183	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0118 a0001c0001t0009g0118	1	458	0.0022	0	c.-28 others(3): Show c.-28G>T	B4GALT7	ENSG00000027847.14	transcript	ENST00000029410.10	protein_coding	1/6	28		chr5	TogoVar
B4GALT7_chr5_177595132_177615330	177600185	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0089 a0001c0001t0008g0089	1	458	0.0022	0	c.-26 others(3): Show c.-26C>T	B4GALT7	ENSG00000027847.14	transcript	ENST00000029410.10	protein_coding	1/6	26		chr5	TogoVar
B9D1_chr17_19338175_19367723	19362604	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0133 a0001c0001t0006g0133	1	354	0.0028	0	c.-35 others(3): Show c.-35C>T	B9D1	ENSG00000108641.20	transcript	ENST00000261499.11	protein_coding	1/7	35		chr17	TogoVar
B9D1_chr17_19338175_19367723	19362639	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02027.hp2 HG02055.hp2 HG03017.hp2 others(12): Show HG02027.hp2 HG02055.hp2 HG03017.hp2 HG03669.hp1 HG04184.hp1 NA18949.hp2 NA18969.hp1 NA18970.hp2 NA18979.hp2 NA18984.hp1 NA19001.hp2 NA19005.hp1 NA19065.hp2 NA19078.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0019 a0001c0001t0003g0042 others(6): Show a0001c0001t0003g0013 a0001c0001t0003g0019 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048	15	354	0.0424	0	c.-70 others(3): Show c.-70G>A	B9D1	ENSG00000108641.20	transcript	ENST00000261499.11	protein_coding	1/7	70		chr17	TogoVar
B9D1_chr17_19338175_19367723	19362648	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0134 a0001c0001t0007g0134	1	354	0.0028	0	c.-79 others(3): Show c.-79C>G	B9D1	ENSG00000108641.20	transcript	ENST00000261499.11	protein_coding	1/7	79		chr17	TogoVar
B9D1_chr17_19338175_19367723	19362679	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp2 NA18949.hp1 NA18951.hp2 others(20): Show HG00438.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18971.hp2 NA18977.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18993.hp1 NA19009.hp1 NA19066.hp1 NA19072.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0002g0025 others(3): Show a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041	23	354	0.0650	0	c.-11 others(4): Show c.-110G>A	B9D1	ENSG00000108641.20	transcript	ENST00000261499.11	protein_coding	1/7	110		chr17	TogoVar
B9D2_chr19_41349417_41369149	41364033	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02723.hp2 NA21309.hp1 HG01884.hp1 HG02723.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036	3	360	0.0083	0	c.-80 others(3): Show c.-80G>A	B9D2	ENSG00000123810.9	transcript	ENST00000243578.8	protein_coding	1/4	514		chr19	TogoVar
B9D2_chr19_41349417_41369149	41364077	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0033 a0001c0001t0007g0033	1	360	0.0028	0	c.-12 others(4): Show c.-124G>A	B9D2	ENSG00000123810.9	transcript	ENST00000243578.8	protein_coding	1/4	558		chr19	TogoVar
B9D2_chr19_41349417_41369149	41364080	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0032 a0002c0002t0006g0032	1	360	0.0028	0	c.-12 others(4): Show c.-127G>A	B9D2	ENSG00000123810.9	transcript	ENST00000243578.8	protein_coding	1/4	561		chr19	TogoVar
B9D2_chr19_41349417_41369149	41364104	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG03041.hp1 others(2): Show HG01884.hp2 HG02280.hp2 HG03041.hp1 HG03486.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0013 a0001c0001t0003g0030 a0001c0001t0003g0031	5	360	0.0139	0	c.-15 others(4): Show c.-151G>A	B9D2	ENSG00000123810.9	transcript	ENST00000243578.8	protein_coding	1/4	585		chr19	TogoVar
B9D2_chr19_41349417_41369149	41364125	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0029 a0002c0002t0005g0029	1	360	0.0028	0	c.-17 others(4): Show c.-172G>A	B9D2	ENSG00000123810.9	transcript	ENST00000243578.8	protein_coding	1/4	606		chr19	TogoVar
B9D2_chr19_41349417_41369149	41364126	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0109 a0002c0002t0008g0109	1	360	0.0028	0	c.-17 others(4): Show c.-173C>G	B9D2	ENSG00000123810.9	transcript	ENST00000243578.8	protein_coding	1/4	607		chr19	TogoVar
BAALC_chr8_103135725_103235305	103140800	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp2 HG02572.hp1 NA18983.hp1 others(2): Show HG00099.hp2 HG02572.hp1 NA18983.hp1 NA19060.hp1 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0257 a0001c0003t0009g0258 a0001c0003t0009g0259 others(2): Show a0001c0003t0009g0257 a0001c0003t0009g0258 a0001c0003t0009g0259 a0001c0003t0009g0260 a0001c0003t0009g0262	5	332	0.0151	0	c.-98 others(3): Show c.-98C>A	BAALC	ENSG00000164929.17	transcript	ENST00000309982.10	protein_coding	1/3	98		chr8	TogoVar
BAALC_chr8_103135725_103235305	103140845	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18965.hp2 NA18989.hp2 NA19066.hp2 others(1): Show NA18965.hp2 NA18989.hp2 NA19066.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	4	332	0.0121	0	c.-53 others(3): Show c.-53G>A	BAALC	ENSG00000164929.17	transcript	ENST00000309982.10	protein_coding	1/3	53		chr8	TogoVar
BAAT_chr9_101355417_101390006	101384911	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG00735.hp2 others(19): Show HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01106.hp2 HG01175.hp1 HG01433.hp1 HG01993.hp1 HG02083.hp1 HG02132.hp2 HG02559.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG03239.hp2 HG03654.hp2 HG03942.hp1 HG04199.hp2 NA18939.hp1 NA19011.hp1 NA19077.hp1 NA20752.hp2	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0003c0003 a0008c0012 a0002c0002 a0003c0003 a0008c0012	a0002c0002t0015 a0002c0002t0016 a0003c0003t0005 others(2): Show a0002c0002t0015 a0002c0002t0016 a0003c0003t0005 a0003c0003t0014 a0008c0012t0017	a0002c0002t0015g0046 a0002c0002t0016g0047 a0003c0003t0005g0010 others(9): Show a0002c0002t0015g0046 a0002c0002t0016g0047 a0003c0003t0005g0010 a0003c0003t0005g0026 a0003c0003t0005g0042 a0003c0003t0005g0043 a0003c0003t0005g0044 a0003c0003t0005g0045 a0003c0003t0005g0048 a0003c0003t0005g0049 a0003c0003t0014g0027 a0008c0012t0017g0050	22	418	0.0526	0	c.-11 others(4): Show c.-116G>A	BAAT	ENSG00000136881.12	transcript	ENST00000259407.7	protein_coding	1/4	13507		chr9	TogoVar
BACE1_chr11_117280698_117321256	117315897	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01123.hp1 HG01255.hp2 others(9): Show HG01109.hp1 HG01123.hp1 HG01255.hp2 HG01346.hp1 HG02145.hp2 HG02647.hp2 HG02965.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0016 a0001c0002t0006 a0001c0008t0006 a0001c0001t0016 a0001c0002t0006 a0001c0008t0006	a0001c0001t0016g0065 a0001c0002t0006g0021 a0001c0002t0006g0034 others(3): Show a0001c0001t0016g0065 a0001c0002t0006g0021 a0001c0002t0006g0034 a0001c0002t0006g0239 a0001c0002t0006g0240 a0001c0008t0006g0241	12	400	0.0300	0	c.-10 others(4): Show c.-102C>T	BACE1	ENSG00000186318.18	transcript	ENST00000313005.11	protein_coding	1/9	102		chr11	TogoVar
BACE1_chr11_117280698_117321256	117315949	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03669.hp2 HG03927.hp2 HG03669.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0035 a0001c0001t0012g0035	2	400	0.0050	0	c.-15 others(4): Show c.-154G>A	BACE1	ENSG00000186318.18	transcript	ENST00000313005.11	protein_coding	1/9	154		chr11	TogoVar
BACE1_chr11_117280698_117321256	117315963	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0242 a0001c0001t0032g0242	1	400	0.0025	0	c.-16 others(4): Show c.-168C>T	BACE1	ENSG00000186318.18	transcript	ENST00000313005.11	protein_coding	1/9	168		chr11	TogoVar
BACE1_chr11_117280698_117321256	117316036	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03041.hp2 NA20805.hp2 HG03041.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0018 a0001c0002t0017 a0001c0002t0018	a0001c0002t0017g0067 a0001c0002t0018g0066 a0001c0002t0017g0067 a0001c0002t0018g0066	2	400	0.0050	0	c.-24 others(4): Show c.-241G>A	BACE1	ENSG00000186318.18	transcript	ENST00000313005.11	protein_coding	1/9	241		chr11	TogoVar
BACE1_chr11_117280698_117321256	117316088	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0243 a0001c0001t0033g0243	1	400	0.0025	0	c.-29 others(4): Show c.-293C>T	BACE1	ENSG00000186318.18	transcript	ENST00000313005.11	protein_coding	1/9	293		chr11	TogoVar
BACE2_chr21_41163160_41287530	41168207	T T	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0052 a0001c0002t0026g0052	1	272	0.0037	0	c.-57 others(3): Show c.-57T>A	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/9	57		chr21	TogoVar
BACE2_chr21_41163160_41287530	41168246	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0174 a0001c0001t0063g0174	1	272	0.0037	0	c.-18 others(3): Show c.-18C>G	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/9	18		chr21	TogoVar
BACH1_chr21_29293922_29351148	29298931	G G	GGCCGC GGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18959.hp1 NA18998.hp1 NA19083.hp2 NA18959.hp1 NA18998.hp1 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0003 a0001c0002t0016g0015 a0001c0002t0016g0133 a0001c0002t0016g0003 a0001c0002t0016g0015 a0001c0002t0016g0133	3	368	0.0082	5	c.-74 others(12): Show c.-74_-70dupGCGCC	BACH1	ENSG00000156273.16	transcript	ENST00000286800.8	protein_coding	1/5	22336	INFO_REALIGN_3_PRIME	chr21	TogoVar
BACH1_chr21_29293922_29351148	29298940	G G	GCGCCT GCGCCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00544.hp2 HG01975.hp1 HG02145.hp1 others(29): Show HG00544.hp2 HG01975.hp1 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG06807.hp2 NA18906.hp1 NA18970.hp1 NA18972.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA19012.hp1 NA19083.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 others(8): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0002c0003t0010 a0002c0003t0033 a0002c0003t0034	a0001c0001t0007g0237 a0001c0001t0007g0238 a0001c0001t0007g0239 others(27): Show a0001c0001t0007g0237 a0001c0001t0007g0238 a0001c0001t0007g0239 a0001c0001t0007g0240 a0001c0001t0007g0241 a0001c0001t0007g0242 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0007g0246 a0001c0001t0011g0043 a0001c0001t0011g0185 a0001c0001t0011g0187 a0001c0001t0011g0271 a0001c0001t0012g0020 a0001c0001t0012g0247 a0001c0001t0012g0249 a0001c0001t0012g0258 a0001c0001t0035g0251 a0001c0001t0036g0250 a0001c0001t0037g0259 a0001c0001t0038g0186 a0001c0001t0039g0248 a0002c0003t0010g0254 a0002c0003t0010g0255 a0002c0003t0010g0257 a0002c0003t0010g0260 a0002c0003t0010g0261 a0002c0003t0033g0232 a0002c0003t0034g0233	32	368	0.0870	5	c.-72 others(12): Show c.-72_-68dupGCCTC	BACH1	ENSG00000156273.16	transcript	ENST00000286800.8	protein_coding	1/5	22334	INFO_REALIGN_3_PRIME	chr21	TogoVar
BACH2_chr6_89921528_90301843	90089006	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03130.hp1 HG03579.hp2 HG03130.hp1 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0047 a0001c0006t0046 a0001c0004t0047 a0001c0006t0046	a0001c0004t0047g0151 a0001c0006t0046g0160 a0001c0004t0047g0151 a0001c0006t0046g0160	2	194	0.0103	0	c.-58 others(3): Show c.-58T>C	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/9	80162		chr6	TogoVar
BACH2_chr6_89921528_90301843	90206626	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(56): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01358.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02572.hp2 HG02602.hp1 HG02738.hp2 HG02922.hp1 HG03017.hp1 HG03098.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03669.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18906.hp2 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19085.hp2 NA19090.hp1 NA20129.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0011 a0001c0013 a0002c0007 a0004c0010 a0005c0015	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(47): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0102 a0001c0001t0123 a0001c0001t0126 a0001c0001t0128 a0001c0001t0130 a0001c0001t0131 a0001c0001t0133 a0001c0002t0025 a0001c0002t0027 a0001c0002t0097 a0001c0002t0098 a0001c0002t0103 a0001c0002t0104 a0001c0002t0121 a0001c0002t0125 a0001c0002t0129 a0001c0003t0008 a0001c0003t0014 a0001c0003t0094 a0001c0003t0132 a0001c0004t0029 a0001c0004t0034 a0001c0004t0043 a0001c0004t0134 a0001c0005t0001 a0001c0005t0099 a0001c0005t0100 a0001c0005t0101 a0001c0005t0107 a0001c0005t0127 a0001c0009t0021 a0001c0011t0122 a0001c0013t0124 a0002c0007t0028 a0002c0007t0030 a0004c0010t0106 a0005c0015t0105	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0100 others(56): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0100 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0008g0061 a0001c0001t0008g0097 a0001c0001t0008g0103 a0001c0001t0014g0179 a0001c0001t0014g0180 a0001c0001t0021g0101 a0001c0001t0026g0170 a0001c0001t0026g0173 a0001c0001t0027g0187 a0001c0001t0041g0015 a0001c0001t0042g0094 a0001c0001t0044g0164 a0001c0001t0045g0058 a0001c0001t0093g0104 a0001c0001t0095g0062 a0001c0001t0096g0108 a0001c0001t0102g0011 a0001c0001t0123g0185 a0001c0001t0126g0182 a0001c0001t0128g0178 a0001c0001t0130g0183 a0001c0001t0131g0189 a0001c0001t0133g0172 a0001c0002t0025g0181 a0001c0002t0025g0186 a0001c0002t0027g0176 a0001c0002t0097g0109 a0001c0002t0098g0098 a0001c0002t0103g0105 a0001c0002t0104g0140 a0001c0002t0121g0121 a0001c0002t0125g0177 a0001c0002t0129g0191 a0001c0003t0008g0106 a0001c0003t0014g0174 a0001c0003t0094g0059 a0001c0003t0132g0175 a0001c0004t0029g0003 a0001c0004t0034g0009 a0001c0004t0043g0169 a0001c0004t0134g0184 a0001c0005t0001g0102 a0001c0005t0099g0014 a0001c0005t0100g0012 a0001c0005t0101g0039 a0001c0005t0107g0099 a0001c0005t0127g0171 a0001c0009t0021g0107 a0001c0011t0122g0188 a0001c0013t0124g0190 a0002c0007t0028g0002 a0002c0007t0030g0001 a0004c0010t0106g0060 a0005c0015t0105g0156	59	194	0.3041	0	c.-21 others(4): Show c.-219A>G	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/9	197782		chr6	TogoVar
BACH2_chr6_89921528_90301843	90271934	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(159): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp1 NA18951.hp1 NA18966.hp1 NA18979.hp1 NA18979.hp2 NA19003.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0002c0007 a0003c0008 a0004c0010 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(130): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0056 a0001c0001t0058 a0001c0001t0067 a0001c0001t0070 a0001c0001t0071 a0001c0001t0076 a0001c0001t0078 a0001c0001t0079 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0086 a0001c0001t0087 a0001c0001t0089 a0001c0001t0090 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0102 a0001c0001t0123 a0001c0001t0126 a0001c0001t0128 a0001c0001t0130 a0001c0001t0131 a0001c0001t0133 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0020 a0001c0002t0025 a0001c0002t0027 a0001c0002t0032 a0001c0002t0035 a0001c0002t0039 a0001c0002t0053 a0001c0002t0057 a0001c0002t0061 a0001c0002t0063 a0001c0002t0069 a0001c0002t0074 a0001c0002t0077 a0001c0002t0080 a0001c0002t0083 a0001c0002t0091 a0001c0002t0097 a0001c0002t0098 a0001c0002t0103 a0001c0002t0104 a0001c0002t0125 a0001c0002t0129 a0001c0003t0008 a0001c0003t0012 a0001c0003t0013 a0001c0003t0014 a0001c0003t0015 a0001c0003t0019 a0001c0003t0036 a0001c0003t0054 a0001c0003t0055 a0001c0003t0059 a0001c0003t0062 a0001c0003t0072 a0001c0003t0085 a0001c0003t0092 a0001c0003t0094 a0001c0003t0132 a0001c0004t0004 a0001c0004t0016 a0001c0004t0018 a0001c0004t0029 a0001c0004t0033 a0001c0004t0034 a0001c0004t0037 a0001c0004t0043 a0001c0004t0047 a0001c0004t0060 a0001c0004t0066 a0001c0004t0075 a0001c0004t0088 a0001c0004t0134 a0001c0005t0001 a0001c0005t0005 a0001c0005t0006 a0001c0005t0018 a0001c0005t0073 a0001c0005t0099 a0001c0005t0100 a0001c0005t0101 a0001c0005t0107 a0001c0005t0127 a0001c0006t0002 a0001c0006t0031 a0001c0006t0046 a0001c0009t0021 a0001c0011t0122 a0001c0012t0064 a0001c0013t0124 a0001c0014t0005 a0002c0007t0028 a0002c0007t0030 a0002c0007t0065 a0003c0008t0068 a0004c0010t0106 a0005c0015t0105	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0100 others(159): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0100 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0002g0033 a0001c0001t0002g0045 a0001c0001t0002g0076 a0001c0001t0003g0029 a0001c0001t0003g0047 a0001c0001t0003g0053 a0001c0001t0004g0016 a0001c0001t0004g0036 a0001c0001t0004g0043 a0001c0001t0007g0088 a0001c0001t0007g0165 a0001c0001t0008g0061 a0001c0001t0008g0097 a0001c0001t0008g0103 a0001c0001t0012g0044 a0001c0001t0012g0050 a0001c0001t0013g0049 a0001c0001t0013g0163 a0001c0001t0014g0179 a0001c0001t0014g0180 a0001c0001t0017g0035 a0001c0001t0017g0085 a0001c0001t0020g0089 a0001c0001t0021g0101 a0001c0001t0026g0170 a0001c0001t0026g0173 a0001c0001t0027g0187 a0001c0001t0038g0148 a0001c0001t0040g0111 a0001c0001t0041g0015 a0001c0001t0042g0094 a0001c0001t0044g0164 a0001c0001t0045g0058 a0001c0001t0048g0018 a0001c0001t0049g0031 a0001c0001t0050g0025 a0001c0001t0051g0150 a0001c0001t0052g0071 a0001c0001t0056g0162 a0001c0001t0058g0080 a0001c0001t0067g0042 a0001c0001t0070g0147 a0001c0001t0071g0070 a0001c0001t0076g0054 a0001c0001t0078g0032 a0001c0001t0079g0153 a0001c0001t0081g0013 a0001c0001t0082g0074 a0001c0001t0084g0021 a0001c0001t0086g0024 a0001c0001t0087g0093 a0001c0001t0089g0084 a0001c0001t0090g0041 a0001c0001t0093g0104 a0001c0001t0095g0062 a0001c0001t0096g0108 a0001c0001t0102g0011 a0001c0001t0123g0185 a0001c0001t0126g0182 a0001c0001t0128g0178 a0001c0001t0130g0183 a0001c0001t0131g0189 a0001c0001t0133g0172 a0001c0001t0135g0193 a0001c0001t0136g0192 a0001c0001t0137g0194 a0001c0002t0003g0020 a0001c0002t0003g0155 a0001c0002t0004g0082 a0001c0002t0006g0051 a0001c0002t0006g0073 a0001c0002t0007g0030 a0001c0002t0007g0159 a0001c0002t0020g0157 a0001c0002t0025g0181 a0001c0002t0025g0186 a0001c0002t0027g0176 a0001c0002t0032g0008 a0001c0002t0035g0146 a0001c0002t0039g0112 a0001c0002t0053g0040 a0001c0002t0057g0023 a0001c0002t0061g0026 a0001c0002t0063g0168 a0001c0002t0069g0087 a0001c0002t0074g0057 a0001c0002t0077g0152 a0001c0002t0080g0075 a0001c0002t0083g0154 a0001c0002t0091g0028 a0001c0002t0097g0109 a0001c0002t0098g0098 a0001c0002t0103g0105 a0001c0002t0104g0140 a0001c0002t0125g0177 a0001c0002t0129g0191 a0001c0003t0008g0106 a0001c0003t0012g0096 a0001c0003t0013g0046 a0001c0003t0014g0174 a0001c0003t0015g0005 a0001c0003t0015g0006 a0001c0003t0019g0072 a0001c0003t0019g0142 a0001c0003t0036g0068 a0001c0003t0054g0083 a0001c0003t0055g0143 a0001c0003t0059g0078 a0001c0003t0062g0048 a0001c0003t0072g0167 a0001c0003t0085g0090 a0001c0003t0092g0017 a0001c0003t0094g0059 a0001c0003t0132g0175 a0001c0004t0004g0092 a0001c0004t0016g0079 a0001c0004t0016g0086 a0001c0004t0018g0069 a0001c0004t0029g0003 a0001c0004t0033g0007 a0001c0004t0034g0009 a0001c0004t0037g0067 a0001c0004t0043g0169 a0001c0004t0047g0151 a0001c0004t0060g0149 a0001c0004t0066g0027 a0001c0004t0075g0144 a0001c0004t0088g0010 a0001c0004t0134g0184 a0001c0005t0001g0102 a0001c0005t0005g0034 a0001c0005t0005g0038 a0001c0005t0005g0095 a0001c0005t0006g0037 a0001c0005t0006g0055 a0001c0005t0018g0052 a0001c0005t0073g0077 a0001c0005t0099g0014 a0001c0005t0100g0012 a0001c0005t0101g0039 a0001c0005t0107g0099 a0001c0005t0127g0171 a0001c0006t0002g0022 a0001c0006t0002g0161 a0001c0006t0031g0004 a0001c0006t0046g0160 a0001c0009t0021g0107 a0001c0011t0122g0188 a0001c0012t0064g0019 a0001c0013t0124g0190 a0001c0014t0005g0158 a0002c0007t0028g0002 a0002c0007t0030g0001 a0002c0007t0065g0145 a0003c0008t0068g0081 a0004c0010t0106g0060 a0005c0015t0105g0156	162	194	0.8351	0	c.-43 others(4): Show c.-438G>A	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	2/9	263090		chr6	TogoVar
BACH2_chr6_89921528_90301843	90271938	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00621.hp2 others(38): Show HG00423.hp1 HG00423.hp2 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01358.hp1 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02895.hp2 HG02970.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03669.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA19043.hp1 NA20129.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0013	a0001c0001t0014 a0001c0001t0026 a0001c0001t0027 others(34): Show a0001c0001t0014 a0001c0001t0026 a0001c0001t0027 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0123 a0001c0001t0126 a0001c0001t0128 a0001c0001t0130 a0001c0001t0131 a0001c0001t0133 a0001c0001t0135 a0001c0001t0136 a0001c0002t0025 a0001c0002t0027 a0001c0002t0032 a0001c0002t0035 a0001c0002t0039 a0001c0002t0125 a0001c0002t0129 a0001c0003t0014 a0001c0003t0015 a0001c0003t0036 a0001c0003t0132 a0001c0004t0033 a0001c0004t0034 a0001c0004t0037 a0001c0004t0043 a0001c0004t0134 a0001c0005t0127 a0001c0006t0031 a0001c0011t0122 a0001c0013t0124	a0001c0001t0014g0179 a0001c0001t0014g0180 a0001c0001t0026g0170 others(38): Show a0001c0001t0014g0179 a0001c0001t0014g0180 a0001c0001t0026g0170 a0001c0001t0026g0173 a0001c0001t0027g0187 a0001c0001t0038g0148 a0001c0001t0040g0111 a0001c0001t0041g0015 a0001c0001t0042g0094 a0001c0001t0044g0164 a0001c0001t0045g0058 a0001c0001t0123g0185 a0001c0001t0126g0182 a0001c0001t0128g0178 a0001c0001t0130g0183 a0001c0001t0131g0189 a0001c0001t0133g0172 a0001c0001t0135g0193 a0001c0001t0136g0192 a0001c0002t0025g0181 a0001c0002t0025g0186 a0001c0002t0027g0176 a0001c0002t0032g0008 a0001c0002t0035g0146 a0001c0002t0039g0112 a0001c0002t0125g0177 a0001c0002t0129g0191 a0001c0003t0014g0174 a0001c0003t0015g0005 a0001c0003t0015g0006 a0001c0003t0036g0068 a0001c0003t0132g0175 a0001c0004t0033g0007 a0001c0004t0034g0009 a0001c0004t0037g0067 a0001c0004t0043g0169 a0001c0004t0134g0184 a0001c0005t0127g0171 a0001c0006t0031g0004 a0001c0011t0122g0188 a0001c0013t0124g0190	41	194	0.2113	0	c.-44 others(4): Show c.-442G>A	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	2/9	263094		chr6	TogoVar
BACH2_chr6_89921528_90301843	90296508	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01069.hp1 others(23): Show HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01358.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02145.hp1 HG02572.hp2 HG02602.hp1 HG03098.hp1 HG03669.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18906.hp2 NA20129.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0013 a0002c0007	a0001c0001t0014 a0001c0001t0026 a0001c0001t0027 others(20): Show a0001c0001t0014 a0001c0001t0026 a0001c0001t0027 a0001c0001t0123 a0001c0001t0126 a0001c0001t0128 a0001c0001t0130 a0001c0001t0131 a0001c0001t0133 a0001c0002t0025 a0001c0002t0027 a0001c0002t0125 a0001c0002t0129 a0001c0003t0014 a0001c0003t0132 a0001c0004t0029 a0001c0004t0034 a0001c0004t0134 a0001c0005t0127 a0001c0011t0122 a0001c0013t0124 a0002c0007t0028 a0002c0007t0030	a0001c0001t0014g0179 a0001c0001t0014g0180 a0001c0001t0026g0170 others(23): Show a0001c0001t0014g0179 a0001c0001t0014g0180 a0001c0001t0026g0170 a0001c0001t0026g0173 a0001c0001t0027g0187 a0001c0001t0123g0185 a0001c0001t0126g0182 a0001c0001t0128g0178 a0001c0001t0130g0183 a0001c0001t0131g0189 a0001c0001t0133g0172 a0001c0002t0025g0181 a0001c0002t0025g0186 a0001c0002t0027g0176 a0001c0002t0125g0177 a0001c0002t0129g0191 a0001c0003t0014g0174 a0001c0003t0132g0175 a0001c0004t0029g0003 a0001c0004t0034g0009 a0001c0004t0134g0184 a0001c0005t0127g0171 a0001c0011t0122g0188 a0001c0013t0124g0190 a0002c0007t0028g0002 a0002c0007t0030g0001	26	194	0.1340	0	c.-47 others(4): Show c.-474C>T	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	1/9	287664		chr6	TogoVar

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