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
B4GALT3_chr1_161166310_161182507	161179281	TTTCCTTC others(5): Show TTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG03239.hp1 HG03239.hp2 others(2): Show HG02559.hp2 HG03239.hp1 HG03239.hp2 NA18522.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0003t0001g0025 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0003t0001g0025	5	374	0.0134	-12	c.-20 others(23): Show c.-2031_-2020delGGAAGGAAGGAA		B4GALT3	ENSG00000158850.15	transcript	ENST00000319769.10	protein_coding					1775		chr1	TogoVar
B4GALT4_chr3_119206742_119245878	119209923	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(103): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG01069.hp1 HG01071.hp2 HG01243.hp1 HG01255.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02300.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03704.hp2 HG03831.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19075.hp1 NA19081.hp2 NA19082.hp2 NA19091.hp2 NA19240.hp2 NA20905.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 others(3): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 a0002c0002t0017 a0002c0002t0019 a0002c0008t0001	a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0021 others(44): Show a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0004g0004 a0002c0002t0004g0016 a0002c0002t0004g0020 a0002c0002t0004g0048 a0002c0002t0004g0049 a0002c0002t0004g0072 a0002c0002t0004g0079 a0002c0002t0004g0116 a0002c0002t0004g0184 a0002c0002t0004g0187 a0002c0002t0004g0188 a0002c0002t0004g0192 a0002c0002t0004g0193 a0002c0002t0004g0196 a0002c0002t0004g0198 a0002c0002t0004g0199 a0002c0002t0009g0151 a0002c0002t0017g0195 a0002c0002t0019g0181 a0002c0008t0001g0087	106	436	0.2431	-12	c.26 others(23): Show c.2614_*2625delTTTTTTTTTTTT		B4GALT4	ENSG00000121578.13	transcript	ENST00000393765.7	protein_coding					1818		chr3	TogoVar
B4GALT4_chr3_119206742_119245878	119211164	CAAAAAGA others(5): Show CAAAAAGAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	436	0.0023	-12	c.13 others(23): Show c.1373_*1384delTTTTTTCTTTTT		B4GALT4	ENSG00000121578.13	transcript	ENST00000393765.7	protein_coding					577		chr3	TogoVar
B4GALT4_chr3_119206742_119245878	119216433	CACACACG others(5): Show CACACACGCACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00544.hp2 others(75): Show HG00099.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG01069.hp1 HG01071.hp2 HG01243.hp1 HG01255.hp2 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02735.hp2 HG02886.hp1 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03579.hp1 HG04199.hp2 NA18612.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18964.hp1 NA18968.hp1 NA18969.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18997.hp1 NA19003.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19070.hp1 NA19075.hp1 NA19081.hp2 NA19082.hp2 NA19091.hp2 NA20905.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0008 a0004c0007 a0002c0002 a0002c0008 a0004c0007	a0002c0002t0001 a0002c0002t0006 a0002c0002t0009 others(4): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0009 a0002c0002t0011 a0002c0002t0015 a0002c0008t0001 a0004c0007t0006	a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0021 others(33): Show a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0117 a0002c0002t0006g0034 a0002c0002t0006g0065 a0002c0002t0006g0066 a0002c0002t0009g0150 a0002c0002t0009g0151 a0002c0002t0011g0045 a0002c0002t0011g0169 a0002c0002t0015g0119 a0002c0008t0001g0087 a0004c0007t0006g0129	78	436	0.1789	-12	c.798 others(26): Show c.798-101_798-90delATGTGCGTGTGT		B4GALT4	ENSG00000121578.13	transcript	ENST00000393765.7	protein_coding	6/7						chr3	TogoVar
B4GALT5_chr20_49627945_49718878	49663688	AAAATATA others(5): Show AAAATATATACAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03486.hp1 HG02622.hp2 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0083 a0001c0003t0003g0084 a0001c0003t0003g0083 a0001c0003t0003g0084	2	364	0.0055	-12	c.116 others(29): Show c.116-6998_116-6987delATGTATATATTT		B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8						chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49663690	AATATATA others(5): Show AATATATACATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 NA18906.hp1 others(1): Show HG02559.hp2 HG02630.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0022 a0001c0008t0009g0023 a0001c0008t0009g0077 others(1): Show a0001c0008t0009g0022 a0001c0008t0009g0023 a0001c0008t0009g0077 a0001c0008t0009g0097	4	364	0.0110	-12	c.116 others(29): Show c.116-7000_116-6989delATATGTATATAT		B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8						chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49664421	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03834.hp2 HG04115.hp2 others(2): Show HG03710.hp2 HG03834.hp2 HG04115.hp2 HG06807.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0044 a0001c0003t0003 a0001c0001t0044 a0001c0003t0003	a0001c0001t0044g0096 a0001c0003t0003g0137 a0001c0003t0003g0138 others(2): Show a0001c0001t0044g0096 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0140	5	364	0.0137	-12	c.116 others(29): Show c.116-7731_116-7720delGTGTGTGTGTGT		B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8						chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49665440	GTAATAAT others(5): Show GTAATAATAATAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01358.hp1 NA18906.hp2 others(3): Show HG01243.hp2 HG01358.hp1 NA18906.hp2 NA18981.hp1 NA19084.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0027 a0001c0002t0001 a0001c0001t0012 a0001c0001t0027 a0001c0002t0001	a0001c0001t0012g0094 a0001c0001t0012g0095 a0001c0001t0027g0100 others(3): Show a0001c0001t0012g0094 a0001c0001t0012g0095 a0001c0001t0027g0100 a0001c0001t0027g0101 a0001c0002t0001g0255 a0001c0002t0001g0256	6	364	0.0165	-12	c.116 others(29): Show c.116-8750_116-8739delTTATTATTATTA		B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8						chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49694790	TCCACGAG others(5): Show TCCACGAGGAAAA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG01358.hp1 others(10): Show HG00741.hp2 HG01243.hp2 HG01358.hp1 HG02486.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0027 others(3): Show a0001c0001t0006 a0001c0001t0022 a0001c0001t0027 a0001c0001t0035 a0001c0001t0043 a0001c0001t0044	a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 others(10): Show a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0178 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0022g0098 a0001c0001t0022g0099 a0001c0001t0027g0100 a0001c0001t0027g0101 a0001c0001t0035g0128 a0001c0001t0043g0127 a0001c0001t0044g0096	13	364	0.0357	-12	c.115 others(31): Show c.115+18774_115+18785delTTTTCCTCGTGG		B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8						chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49699801	GCTGAATT others(5): Show GCTGAATTTCACC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00621.hp2 others(23): Show HG00558.hp2 HG00597.hp2 HG00621.hp2 HG01261.hp1 HG01346.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp2 HG02165.hp1 HG02738.hp2 HG03834.hp1 NA18942.hp2 NA18960.hp2 NA18961.hp1 NA18969.hp2 NA18973.hp2 NA18978.hp2 NA18982.hp1 NA18988.hp2 NA18994.hp1 NA19055.hp2 NA19060.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19082.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0014 a0002c0004t0031 others(1): Show a0002c0004t0005 a0002c0004t0014 a0002c0004t0031 a0002c0004t0032	a0002c0004t0005g0220 a0002c0004t0005g0221 a0002c0004t0005g0222 others(23): Show a0002c0004t0005g0220 a0002c0004t0005g0221 a0002c0004t0005g0222 a0002c0004t0005g0223 a0002c0004t0005g0224 a0002c0004t0005g0225 a0002c0004t0005g0226 a0002c0004t0005g0227 a0002c0004t0005g0229 a0002c0004t0005g0230 a0002c0004t0005g0231 a0002c0004t0005g0232 a0002c0004t0005g0234 a0002c0004t0005g0235 a0002c0004t0005g0236 a0002c0004t0005g0237 a0002c0004t0005g0238 a0002c0004t0005g0241 a0002c0004t0005g0242 a0002c0004t0005g0244 a0002c0004t0005g0245 a0002c0004t0014g0228 a0002c0004t0014g0233 a0002c0004t0014g0239 a0002c0004t0031g0240 a0002c0004t0032g0243	26	364	0.0714	-12	c.115 others(31): Show c.115+13763_115+13774delGGTGAAATTCAG		B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8						chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49714245	CTCATTCA others(5): Show CTCATTCATTCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 NA18906.hp2 NA21309.hp1 HG03195.hp2 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0093 a0001c0001t0012g0094 a0001c0001t0012g0095 a0001c0001t0012g0093 a0001c0001t0012g0094 a0001c0001t0012g0095	3	364	0.0082	-12	c.-56 others(21): Show c.-567_-556delATGAATGAATGA		B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding					368		chr20	TogoVar
B4GALT6_chr18_31617246_31689581	31629447	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	306	0.0033	-12	c.776 others(29): Show c.776+1500_776+1511delAAAAAAAAAAAA		B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding	6/8						chr18	TogoVar
BABAM1_chr19_17262443_17284337	17273552	TTTGTTTG others(5): Show TTTGTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01346.hp1 HG01884.hp1 others(6): Show HG01175.hp2 HG01346.hp1 HG01884.hp1 HG02896.hp1 HG03017.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0114 a0001c0001t0001g0191 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0114 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0212	9	424	0.0212	-12	c.345 others(27): Show c.345-349_345-338delGTTTGTTTTGTT		BABAM1	ENSG00000105393.16	transcript	ENST00000598188.6	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
BABAM2_chr2_27885729_28343901	28112143	TTCTTTAC others(5): Show TTCTTTACCTCCC	T T	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	158	0.0063	-12	c.571 others(31): Show c.571-17125_571-17114delTTTACCTCCCTC		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28115182	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02074.hp1 HG02165.hp2 others(6): Show HG01168.hp2 HG02074.hp1 HG02165.hp2 HG02602.hp2 HG02735.hp2 NA18964.hp2 NA18968.hp1 NA18969.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0001g0111 a0001c0001t0001g0125 others(6): Show a0001c0001t0001g0052 a0001c0001t0001g0111 a0001c0001t0001g0125 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0151	9	158	0.0570	-12	c.571 others(31): Show c.571-14057_571-14046delCACACACACACA		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28154439	GTAAGGTG others(5): Show GTAAGGTGGTTGC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	158	0.0063	-12	c.680 others(31): Show c.680+25062_680+25073delAGGTGGTTGCTA		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28176569	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	158	0.0063	-12	c.680 others(31): Show c.680+47205_680+47216delAAAAAAAAAAAA		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28267438	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG02723.hp1 others(1): Show HG01891.hp2 HG02630.hp1 HG02723.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0003g0137	4	158	0.0253	-12	c.934 others(31): Show c.934+22593_934+22604delACACACACACAC		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
BACE2_chr21_41163160_41287530	41224221	TTTTTTTT others(5): Show TTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0237	1	272	0.0037	-12	c.313 others(29): Show c.313-2044_313-2033delTTTTTTTTTTTG		BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8						chr21	TogoVar
BACE2_chr21_41163160_41287530	41286119	TATAGATA others(5): Show TATAGATAGATAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03041.hp2 HG03139.hp1 others(2): Show HG02723.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0009 a0001c0001t0017 a0001c0001t0020 others(2): Show a0001c0001t0009 a0001c0001t0017 a0001c0001t0020 a0001c0001t0040 a0002c0005t0041	a0001c0001t0009g0229 a0001c0001t0017g0270 a0001c0001t0020g0150 others(2): Show a0001c0001t0009g0229 a0001c0001t0017g0270 a0001c0001t0020g0150 a0001c0001t0040g0084 a0002c0005t0041g0138	5	272	0.0184	-12	c.10 others(25): Show c.10496_*10507delATAGATAGATAG		BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding					3590		chr21	TogoVar
BACH1_chr21_29293922_29351148	29306169	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0062 a0001c0002t0004g0062	1	368	0.0027	-12	c.-61 others(29): Show c.-61+7247_-61+7258delGTGTGTGTGTGT		BACH1	ENSG00000156273.16	transcript	ENST00000286800.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
BACH2_chr6_89921528_90301843	89930114	GACACACA others(5): Show GACACACACACAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp1 HG03669.hp1 HG02698.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0083 a0001c0002t0053 a0001c0002t0083	a0001c0002t0053g0040 a0001c0002t0083g0154 a0001c0002t0053g0040 a0001c0002t0083g0154	2	194	0.0103	-12	c.22 others(23): Show c.2282_*2293delGTGTGTGTGTGT		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	9/9				2282		chr6	TogoVar
BACH2_chr6_89921528_90301843	89939656	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp2 HG02970.hp1 HG01109.hp1 HG02965.hp2 HG02970.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0010 a0001c0002 a0004c0010	a0001c0002t0061 a0001c0002t0069 a0004c0010t0106 a0001c0002t0061 a0001c0002t0069 a0004c0010t0106	a0001c0002t0061g0026 a0001c0002t0069g0087 a0004c0010t0106g0060 a0001c0002t0061g0026 a0001c0002t0069g0087 a0004c0010t0106g0060	3	194	0.0155	-12	c.183 others(31): Show c.1837-1318_1837-1307delAAAAAAAAAAAA		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	7/8						chr6	TogoVar
BACH2_chr6_89921528_90301843	89949440	TCCTCTGC others(5): Show TCCTCTGCAGGGG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG00735.hp2 others(31): Show HG00408.hp2 HG00621.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01358.hp1 HG01496.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02559.hp1 HG02896.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03579.hp2 NA18966.hp1 NA19043.hp2 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0009 others(1): Show a0001c0001 a0001c0006 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0040 a0001c0001t0041 a0001c0001t0045 a0001c0001t0051 a0001c0001t0070 a0001c0001t0089 a0001c0001t0093 a0001c0001t0096 a0001c0001t0102 a0001c0001t0112 a0001c0001t0117 a0001c0001t0126 a0001c0001t0136 a0001c0001t0137 a0001c0006t0002 a0001c0006t0031 a0001c0006t0046 a0001c0009t0021 a0001c0011t0122	a0001c0001t0001g0100 a0001c0001t0001g0141 a0001c0001t0003g0029 others(31): Show a0001c0001t0001g0100 a0001c0001t0001g0141 a0001c0001t0003g0029 a0001c0001t0003g0047 a0001c0001t0004g0016 a0001c0001t0007g0088 a0001c0001t0008g0097 a0001c0001t0011g0091 a0001c0001t0011g0116 a0001c0001t0012g0044 a0001c0001t0012g0050 a0001c0001t0014g0179 a0001c0001t0014g0180 a0001c0001t0020g0089 a0001c0001t0040g0111 a0001c0001t0041g0015 a0001c0001t0045g0058 a0001c0001t0051g0150 a0001c0001t0070g0147 a0001c0001t0089g0084 a0001c0001t0093g0104 a0001c0001t0096g0108 a0001c0001t0102g0011 a0001c0001t0112g0117 a0001c0001t0117g0066 a0001c0001t0126g0182 a0001c0001t0136g0192 a0001c0001t0137g0194 a0001c0006t0002g0022 a0001c0006t0002g0161 a0001c0006t0031g0004 a0001c0006t0046g0160 a0001c0009t0021g0107 a0001c0011t0122g0188	34	194	0.1753	-12	c.183 others(29): Show c.1836+818_1836+829delCCCCTGCAGAGG		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	7/8						chr6	TogoVar
BACH2_chr6_89921528_90301843	89959097	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01261.hp2 HG02602.hp2 others(4): Show HG00408.hp2 HG01261.hp2 HG02602.hp2 HG03139.hp1 HG03834.hp1 NA18966.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0012 a0001c0001t0096 a0001c0001t0137 others(4): Show a0001c0001t0012 a0001c0001t0096 a0001c0001t0137 a0001c0002t0077 a0001c0003t0013 a0001c0004t0043 a0001c0009t0021	a0001c0001t0012g0050 a0001c0001t0096g0108 a0001c0001t0137g0194 others(4): Show a0001c0001t0012g0050 a0001c0001t0096g0108 a0001c0001t0137g0194 a0001c0002t0077g0152 a0001c0003t0013g0046 a0001c0004t0043g0169 a0001c0009t0021g0107	7	194	0.0361	-12	c.244 others(29): Show c.244-7247_244-7236delTGTGTGTGTGTG		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	6/8						chr6	TogoVar
BACH2_chr6_89921528_90301843	89997005	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19088.hp1 NA19090.hp1 NA18966.hp2 NA19088.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0011 a0001c0002t0104 a0001c0003t0111 a0001c0001t0011 a0001c0002t0104 a0001c0003t0111	a0001c0001t0011g0091 a0001c0002t0104g0140 a0001c0003t0111g0118 a0001c0001t0011g0091 a0001c0002t0104g0140 a0001c0003t0111g0118	3	194	0.0155	-12	c.243 others(31): Show c.243+11585_243+11596delTGTGTGTGTGTG		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	6/8						chr6	TogoVar
BACH2_chr6_89921528_90301843	90011930	ATATGTGT others(5): Show ATATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02602.hp2 HG02622.hp1 others(6): Show HG00738.hp2 HG02602.hp2 HG02622.hp1 HG02895.hp2 HG02965.hp2 HG03139.hp1 HG03453.hp2 HG03579.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0058 a0001c0001t0084 a0001c0001t0137 others(6): Show a0001c0001t0058 a0001c0001t0084 a0001c0001t0137 a0001c0002t0007 a0001c0002t0069 a0001c0002t0077 a0001c0003t0015 a0001c0003t0109 a0001c0004t0037	a0001c0001t0058g0080 a0001c0001t0084g0021 a0001c0001t0137g0194 others(6): Show a0001c0001t0058g0080 a0001c0001t0084g0021 a0001c0001t0137g0194 a0001c0002t0007g0030 a0001c0002t0069g0087 a0001c0002t0077g0152 a0001c0003t0015g0006 a0001c0003t0109g0056 a0001c0004t0037g0067	9	194	0.0464	-12	c.-12 others(29): Show c.-12-3086_-12-3075delCACACACACATA		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/8						chr6	TogoVar
BACH2_chr6_89921528_90301843	90011932	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0132 a0001c0001t0114g0132	1	194	0.0052	-12	c.-12 others(29): Show c.-12-3088_-12-3077delCACACACACACA		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/8						chr6	TogoVar
BACH2_chr6_89921528_90301843	90014436	GTGTGTAT others(5): Show GTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0092 a0001c0004t0004g0092	1	194	0.0052	-12	c.-12 others(29): Show c.-12-5592_-12-5581delTATATATACACA		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/8						chr6	TogoVar
BACH2_chr6_89921528_90301843	90043494	CCCTCCCT others(5): Show CCCTCCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01167.hp1 others(11): Show HG00408.hp2 HG00438.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG02165.hp2 HG02738.hp2 HG03834.hp2 HG04204.hp2 NA19068.hp1 NA19068.hp2 NA19085.hp2 NA19090.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(10): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0082 a0001c0001t0093 a0001c0001t0096 a0001c0001t0118 a0001c0001t0120 a0001c0001t0128 a0001c0002t0104 a0001c0003t0132 a0001c0005t0010 a0001c0009t0021	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0008g0103 others(11): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0008g0103 a0001c0001t0013g0163 a0001c0001t0082g0074 a0001c0001t0093g0104 a0001c0001t0096g0108 a0001c0001t0118g0115 a0001c0001t0120g0131 a0001c0001t0128g0178 a0001c0002t0104g0140 a0001c0003t0132g0175 a0001c0005t0010g0133 a0001c0009t0021g0107	14	194	0.0722	-12	c.-12 others(31): Show c.-12-34650_-12-34639delAAGGGAGGGAGG		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/8						chr6	TogoVar
BACH2_chr6_89921528_90301843	90102791	AAATAATA others(5): Show AAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02717.hp1 HG04204.hp1 HG01261.hp2 HG02717.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0085 a0001c0003t0109 a0001c0003t0013 a0001c0003t0085 a0001c0003t0109	a0001c0003t0013g0046 a0001c0003t0085g0090 a0001c0003t0109g0056 a0001c0003t0013g0046 a0001c0003t0085g0090 a0001c0003t0109g0056	3	194	0.0155	-12	c.-16 others(33): Show c.-161-13694_-161-13683delATTATTATTATT		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8						chr6	TogoVar
BACH2_chr6_89921528_90301843	90146210	AAGTGATG others(5): Show AAGTGATGTTACC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03834.hp1 HG00423.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0044 a0001c0004t0043 a0001c0001t0044 a0001c0004t0043	a0001c0001t0044g0164 a0001c0004t0043g0169 a0001c0001t0044g0164 a0001c0004t0043g0169	2	194	0.0103	-12	c.-16 others(33): Show c.-161-57113_-161-57102delGGTAACATCACT		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8						chr6	TogoVar
BACH2_chr6_89921528_90301843	90210312	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0124 a0001c0013t0124	a0001c0013t0124g0190 a0001c0013t0124g0190	1	194	0.0052	-12	c.-27 others(31): Show c.-274-3643_-274-3632delGTGTGTGTGTGT		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	3/8						chr6	TogoVar
BACH2_chr6_89921528_90301843	90211588	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01109.hp1 HG01167.hp1 others(13): Show HG00408.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01256.hp1 HG01934.hp1 HG01975.hp1 HG02027.hp1 HG02109.hp2 HG02922.hp1 HG03017.hp1 HG03239.hp2 HG03471.hp2 HG04199.hp2 NA19068.hp1 NA19085.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0004c0010	a0001c0001t0001 a0001c0001t0008 a0001c0001t0041 others(11): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0041 a0001c0001t0093 a0001c0001t0096 a0001c0001t0102 a0001c0002t0097 a0001c0002t0098 a0001c0002t0103 a0001c0003t0008 a0001c0003t0094 a0001c0005t0099 a0001c0009t0021 a0004c0010t0106	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0008g0061 others(13): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0008g0061 a0001c0001t0008g0097 a0001c0001t0041g0015 a0001c0001t0093g0104 a0001c0001t0096g0108 a0001c0001t0102g0011 a0001c0002t0097g0109 a0001c0002t0098g0098 a0001c0002t0103g0105 a0001c0003t0008g0106 a0001c0003t0094g0059 a0001c0005t0099g0014 a0001c0009t0021g0107 a0004c0010t0106g0060	16	194	0.0825	-12	c.-27 others(31): Show c.-274-4919_-274-4908delCACACACACACA		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	3/8						chr6	TogoVar
BACH2_chr6_89921528_90301843	90239798	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00639.hp2 others(24): Show HG00408.hp1 HG00438.hp1 HG00639.hp2 HG01081.hp1 HG01167.hp2 HG01175.hp1 HG01261.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02155.hp1 HG02300.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG03486.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp1 NA18946.hp1 NA18951.hp1 NA18966.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0067 a0001c0001t0076 a0001c0001t0078 a0001c0001t0081 a0001c0001t0090 a0001c0002t0003 a0001c0002t0006 a0001c0002t0035 a0001c0002t0053 a0001c0002t0074 a0001c0002t0104 a0001c0003t0012 a0001c0003t0013 a0001c0003t0062 a0001c0003t0085 a0001c0005t0005 a0001c0005t0006 a0001c0005t0018	a0001c0001t0002g0045 a0001c0001t0003g0047 a0001c0001t0003g0053 others(24): Show a0001c0001t0002g0045 a0001c0001t0003g0047 a0001c0001t0003g0053 a0001c0001t0004g0043 a0001c0001t0012g0044 a0001c0001t0012g0050 a0001c0001t0013g0049 a0001c0001t0067g0042 a0001c0001t0076g0054 a0001c0001t0078g0032 a0001c0001t0081g0013 a0001c0001t0090g0041 a0001c0002t0003g0155 a0001c0002t0006g0051 a0001c0002t0035g0146 a0001c0002t0053g0040 a0001c0002t0074g0057 a0001c0002t0104g0140 a0001c0003t0012g0096 a0001c0003t0013g0046 a0001c0003t0062g0048 a0001c0003t0085g0090 a0001c0005t0005g0038 a0001c0005t0005g0095 a0001c0005t0006g0037 a0001c0005t0006g0055 a0001c0005t0018g0052	27	194	0.1392	-12	c.-27 others(33): Show c.-275+12703_-275+12714delGTGTGTGTGTGT		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	3/8						chr6	TogoVar
BAD_chr11_64264830_64289665	64270975	GACACACA others(5): Show GACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03139.hp2 HG01109.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0074 a0001c0001t0002g0311 a0001c0001t0001g0074 a0001c0001t0002g0311	2	388	0.0052	-12	c.378 others(27): Show c.378+626_378+637delGTGTGTGTGTGT		BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3						chr11	TogoVar
BAD_chr11_64264830_64289665	64271207	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18990.hp1 HG02523.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0057 a0001c0001t0003g0049 a0001c0001t0003g0057	2	388	0.0052	-12	c.378 others(27): Show c.378+394_378+405delTGTGTGTGTGTG		BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3						chr11	TogoVar
BAD_chr11_64264830_64289665	64271294	TCTCACAC others(5): Show TCTCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01071.hp1 HG01433.hp1 others(16): Show HG00558.hp2 HG01071.hp1 HG01433.hp1 HG01928.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02602.hp1 HG02886.hp1 HG03688.hp2 HG03927.hp2 HG04199.hp1 NA18956.hp1 NA18972.hp1 NA18998.hp1 NA19054.hp1 NA19060.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0110 a0001c0001t0001g0114 others(15): Show a0001c0001t0001g0011 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0152 a0001c0001t0001g0325 a0001c0001t0001g0332	19	388	0.0490	-12	c.378 others(27): Show c.378+307_378+318delTGTGTGTGTGAG		BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3						chr11	TogoVar
BAG3_chr10_119646380_119682819	119665118	GTGTGTGT others(5): Show GTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	420	0.0024	-12	c.181 others(29): Show c.181-4731_181-4720delGTGTGTGTATAT		BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG4_chr8_38171855_38218301	38201834	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02683.hp1 HG02965.hp2 others(1): Show HG02615.hp1 HG02683.hp1 HG02965.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 a0001c0001t0001 a0001c0001t0004 a0001c0001t0024	a0001c0001t0001g0157 a0001c0001t0001g0191 a0001c0001t0004g0130 others(1): Show a0001c0001t0001g0157 a0001c0001t0001g0191 a0001c0001t0004g0130 a0001c0001t0024g0283	4	306	0.0131	-12	c.379 others(29): Show c.379-5642_379-5631delATATATATATAT		BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG6_chr6_31634028_31657661	31652320	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	427	0.0023	-12	c.-14 others(26): Show c.-14+92_-14+103delGTGTGTGTGTGT		BAG6	ENSG00000204463.14	transcript	ENST00000676615.2	protein_coding	1/25						chr6	TogoVar
BAHCC1_chr17_81390457_81471331	81411474	CCCTGCCT others(5): Show CCCTGCCTGCCTG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0047 a0047	a0047c0046 a0047c0046	a0047c0046t0004 a0047c0046t0004	a0047c0046t0004g0273 a0047c0046t0004g0273	1	332	0.0030	-12	c.178 others(31): Show c.178+11589_178+11600delGCCTGCCTGCCT		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81411506	GCCTGCCT others(5): Show GCCTGCCTGCCTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0052 a0052	a0052c0038 a0052c0038	a0052c0038t0002 a0052c0038t0002	a0052c0038t0002g0144 a0052c0038t0002g0144	1	332	0.0030	-12	c.178 others(31): Show c.178+11593_178+11604delGCCTGCCTTCCT		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81411510	GCCTGCCT others(5): Show GCCTGCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG06807.hp2 HG02965.hp2 HG06807.hp2	a0001 a0007 a0001 a0007	a0001c0009 a0007c0008 a0001c0009 a0007c0008	a0001c0009t0024 a0007c0008t0001 a0001c0009t0024 a0007c0008t0001	a0001c0009t0024g0248 a0007c0008t0001g0257 a0001c0009t0024g0248 a0007c0008t0001g0257	2	332	0.0060	-12	c.178 others(31): Show c.178+11597_178+11608delGCCTTCCTTCCT		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81411514	GCCTTCCT others(5): Show GCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG01891.hp2 others(17): Show HG00609.hp2 HG00639.hp1 HG01891.hp2 HG02055.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG04115.hp1 NA18612.hp2 NA18942.hp2 NA18947.hp1 NA18952.hp1 NA20905.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0011 a0014 a0015 a0031	a0001c0003 a0001c0007 a0001c0009 others(11): Show a0001c0003 a0001c0007 a0001c0009 a0001c0012 a0001c0021 a0001c0086 a0002c0001 a0002c0044 a0004c0004 a0005c0005 a0011c0015 a0014c0022 a0015c0014 a0031c0091	a0001c0003t0003 a0001c0007t0033 a0001c0009t0030 others(11): Show a0001c0003t0003 a0001c0007t0033 a0001c0009t0030 a0001c0012t0002 a0001c0021t0002 a0001c0086t0003 a0002c0001t0001 a0002c0044t0001 a0004c0004t0002 a0005c0005t0012 a0011c0015t0001 a0014c0022t0011 a0015c0014t0001 a0031c0091t0001	a0001c0003t0003g0110 a0001c0007t0033g0135 a0001c0009t0030g0263 others(17): Show a0001c0003t0003g0110 a0001c0007t0033g0135 a0001c0009t0030g0263 a0001c0012t0002g0112 a0001c0021t0002g0262 a0001c0086t0003g0031 a0002c0001t0001g0108 a0002c0001t0001g0276 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0044t0001g0164 a0004c0004t0002g0271 a0005c0005t0012g0204 a0005c0005t0012g0206 a0005c0005t0012g0207 a0011c0015t0001g0166 a0014c0022t0011g0322 a0014c0022t0011g0323 a0015c0014t0001g0243 a0031c0091t0001g0042	20	332	0.0602	-12	c.178 others(31): Show c.178+11646_178+11657delCCTTCCTTCCTT		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81425236	TTGGGGGT others(5): Show TTGGGGGTGATAG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02257.hp2 others(4): Show HG01167.hp2 HG01169.hp2 HG02257.hp2 HG02886.hp2 HG02895.hp1 HG03139.hp1 NA18906.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0002 a0002c0001 a0003c0002	a0002c0001t0001 a0003c0002t0004 a0003c0002t0013 a0002c0001t0001 a0003c0002t0004 a0003c0002t0013	a0002c0001t0001g0169 a0002c0001t0001g0174 a0003c0002t0004g0170 others(4): Show a0002c0001t0001g0169 a0002c0001t0001g0174 a0003c0002t0004g0170 a0003c0002t0004g0171 a0003c0002t0004g0172 a0003c0002t0013g0168 a0003c0002t0013g0173	7	332	0.0211	-12	c.179 others(29): Show c.179-1560_179-1549delGGGTGATAGTGG		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81456347	CGTGGCCC others(5): Show CGTGGCCCACAGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp1 HG02258.hp1	a0053 a0053	a0053c0040 a0053c0040	a0053c0040t0002 a0053c0040t0002	a0053c0040t0002g0268 a0053c0040t0002g0268	1	332	0.0030	-12	c.462 others(21): Show c.4629_4640delCAGGGTGGCCCA	p.His others(15): Show p.His1543_Ala1546del	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	16/28	5014/10726	4629/7827	1543/2608		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHD1_chr15_40435953_40473236	40436213	AGCTCCCG others(5): Show AGCTCCCGCTCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(185): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03225.hp2 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0003c0012 a0005c0013 a0006c0009 a0007c0005 a0008c0006 a0009c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 a0002c0002t0017 a0003c0003t0001 a0003c0012t0001 a0005c0013t0001 a0006c0009t0001 a0007c0005t0001 a0008c0006t0001 a0009c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(122): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0002g0005 a0001c0001t0002g0025 a0001c0001t0002g0061 a0001c0001t0002g0078 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0003g0013 a0001c0001t0003g0022 a0001c0001t0003g0179 a0001c0001t0003g0194 a0001c0001t0003g0205 a0001c0001t0004g0173 a0001c0001t0005g0009 a0001c0001t0005g0026 a0001c0001t0005g0227 a0001c0001t0005g0230 a0001c0001t0010g0197 a0001c0001t0010g0198 a0001c0001t0012g0014 a0001c0001t0019g0002 a0001c0001t0020g0113 a0002c0002t0001g0003 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0024 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0082 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0138 a0002c0002t0001g0145 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0003g0003 a0002c0002t0003g0011 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0003g0057 a0002c0002t0003g0089 a0002c0002t0003g0142 a0002c0002t0003g0143 a0002c0002t0003g0149 a0002c0002t0008g0135 a0002c0002t0008g0144 a0002c0002t0008g0162 a0002c0002t0017g0207 a0003c0003t0001g0006 a0003c0003t0001g0020 a0003c0003t0001g0036 a0003c0003t0001g0137 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0012t0001g0035 a0005c0013t0001g0174 a0006c0009t0001g0182 a0007c0005t0001g0225 a0008c0006t0001g0126 a0009c0007t0001g0002	188	372	0.5054	-12	c.-50 others(23): Show c.-5069_-5058delGCTCCCGCTCCC		BAHD1	ENSG00000140320.12	transcript	ENST00000416165.6	protein_coding					4739		chr15	TogoVar
BAHD1_chr15_40435953_40473236	40447560	GAATAAAT others(5): Show GAATAAATAAATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00738.hp2 HG01070.hp1 others(29): Show HG00597.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01496.hp2 HG01891.hp1 HG02015.hp1 HG02055.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03540.hp1 HG03669.hp1 HG06807.hp2 NA18522.hp2 NA18943.hp1 NA18978.hp2 NA19043.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0002c0002t0003 a0002c0002t0006 a0003c0003t0015	a0001c0001t0002g0007 a0001c0001t0002g0043 a0001c0001t0002g0065 others(21): Show a0001c0001t0002g0007 a0001c0001t0002g0043 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0213 a0001c0001t0002g0221 a0001c0001t0004g0007 a0001c0001t0004g0030 a0001c0001t0004g0033 a0001c0001t0004g0066 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0005g0227 a0001c0001t0009g0032 a0001c0001t0009g0098 a0002c0002t0003g0027 a0002c0002t0003g0084 a0002c0002t0006g0060 a0003c0003t0015g0141	32	372	0.0860	-12	c.-15 others(29): Show c.-15+6335_-15+6346delTAAATAAATAAA		BAHD1	ENSG00000140320.12	transcript	ENST00000416165.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr15	TogoVar
BAHD1_chr15_40435953_40473236	40448322	GTACATCT others(5): Show GTACATCTTCAGT	G G	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	372	0.0027	-12	c.-15 others(29): Show c.-15+7056_-15+7067delACATCTTCAGTT		BAHD1	ENSG00000140320.12	transcript	ENST00000416165.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr15	TogoVar

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