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
BCAT1_chr12_24805024_24954101	24836891	A A	AAGAAAAG others(4): Show AAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0097 a0001c0001t0060g0097	1	322	0.0031	11	c.818 others(26): Show c.818-296_818-295insCTTTCTTTTCT		BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10						chr12	TogoVar
BCAT1_chr12_24805024_24954101	24836955	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	322	0.0031	11	c.818 others(26): Show c.818-360_818-359insCTTTCTTTCTT		BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10						chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887061	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp2 HG00738.hp2 others(13): Show HG00099.hp1 HG00609.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01261.hp2 HG01934.hp1 HG01975.hp2 HG02257.hp2 HG02559.hp2 HG02895.hp1 HG03139.hp2 HG03239.hp2 HG03516.hp2 NA18969.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0016 a0001c0001t0041 a0001c0001t0046 a0001c0001t0053 a0001c0001t0055 a0001c0001t0099 a0001c0001t0101 a0001c0001t0108	a0001c0001t0002g0284 a0001c0001t0003g0191 a0001c0001t0006g0183 others(13): Show a0001c0001t0002g0284 a0001c0001t0003g0191 a0001c0001t0006g0183 a0001c0001t0006g0187 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0001t0012g0108 a0001c0001t0016g0054 a0001c0001t0016g0296 a0001c0001t0041g0195 a0001c0001t0046g0147 a0001c0001t0053g0256 a0001c0001t0055g0042 a0001c0001t0099g0201 a0001c0001t0101g0184 a0001c0001t0108g0158	16	322	0.0497	11	c.280 others(28): Show c.280-5661_280-5651dupTTTTTTTTTTT		BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10						chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01109.hp1 HG01109.hp2 others(6): Show HG00558.hp1 HG01109.hp1 HG01109.hp2 HG01978.hp1 HG02647.hp2 HG03492.hp2 HG03669.hp1 NA18939.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0016 a0001c0001t0027 a0001c0001t0050 a0001c0001t0051	a0001c0001t0001g0009 a0001c0001t0001g0121 a0001c0001t0002g0006 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0121 a0001c0001t0002g0006 a0001c0001t0006g0202 a0001c0001t0012g0063 a0001c0001t0016g0072 a0001c0001t0027g0227 a0001c0001t0050g0299 a0001c0001t0051g0310	9	322	0.0280	11	c.280 others(28): Show c.280-5670_280-5669insATTTTTTTTTT		BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10						chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 NA18967.hp1 others(1): Show HG00735.hp2 HG01496.hp1 NA18967.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0045 a0001c0001t0110 others(1): Show a0001c0001t0001 a0001c0001t0045 a0001c0001t0110 a0001c0001t0130	a0001c0001t0001g0236 a0001c0001t0045g0136 a0001c0001t0110g0041 others(1): Show a0001c0001t0001g0236 a0001c0001t0045g0136 a0001c0001t0110g0041 a0001c0001t0130g0317	4	322	0.0124	11	c.280 others(28): Show c.280-5670_280-5669insATATTTTTTTT		BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10						chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAT others(4): Show AAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	322	0.0031	11	c.280 others(28): Show c.280-5670_280-5669insATATATTTTTT		BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10						chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0104 a0001c0001t0035g0104	1	322	0.0031	11	c.280 others(28): Show c.280-5670_280-5669insATATATATATT		BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10						chr12	TogoVar
BCAT1_chr12_24805024_24954101	24898520	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00738.hp2 HG01070.hp1 others(29): Show HG00558.hp1 HG00738.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01361.hp1 HG01934.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp1 HG02895.hp2 HG03516.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18966.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA19060.hp2 NA19063.hp1 NA19083.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0027 a0001c0001t0034 a0001c0001t0039 a0001c0001t0041 a0001c0001t0045 a0001c0001t0051 a0001c0001t0074 a0001c0001t0100 a0001c0001t0102	a0001c0001t0001g0007 a0001c0001t0001g0068 a0001c0001t0001g0115 others(29): Show a0001c0001t0001g0007 a0001c0001t0001g0068 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0167 a0001c0001t0001g0205 a0001c0001t0001g0218 a0001c0001t0005g0228 a0001c0001t0006g0183 a0001c0001t0006g0202 a0001c0001t0006g0208 a0001c0001t0006g0281 a0001c0001t0008g0044 a0001c0001t0011g0280 a0001c0001t0015g0026 a0001c0001t0017g0133 a0001c0001t0018g0166 a0001c0001t0025g0211 a0001c0001t0025g0231 a0001c0001t0027g0196 a0001c0001t0034g0186 a0001c0001t0039g0066 a0001c0001t0041g0195 a0001c0001t0045g0136 a0001c0001t0045g0247 a0001c0001t0051g0310 a0001c0001t0074g0095 a0001c0001t0100g0216 a0001c0001t0102g0059	32	322	0.0994	11	c.78+ others(26): Show c.78+3283_78+3293dupAAAAAAAAAAA		BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	2/10						chr12	TogoVar
BCCIP_chr10_125818546_125841551	125826996	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp1 HG01069.hp1 others(29): Show HG00438.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01168.hp2 HG01169.hp1 HG02040.hp2 HG02080.hp1 HG02109.hp1 HG02155.hp1 HG02717.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03490.hp2 HG03540.hp1 HG03654.hp2 HG04204.hp1 NA18906.hp2 NA18948.hp2 NA18953.hp1 NA18972.hp2 NA18992.hp2 NA18998.hp1 NA19057.hp1 NA19070.hp1 NA19081.hp2 NA19085.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0041 others(15): Show a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0002g0052 a0001c0001t0002g0125 a0001c0001t0002g0164 a0001c0001t0003g0124 a0001c0001t0003g0174	32	446	0.0718	11	c.240 others(26): Show c.240+340_240+341insAAAAAAAAAAA		BCCIP	ENSG00000107949.17	transcript	ENST00000278100.11	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
BCHE_chr3_165767904_165842423	165797307	C C	CCTCCCTT others(4): Show CCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03540.hp1 HG01255.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	2	304	0.0066	11	c.151 others(32): Show c.1518-10997_1518-10996insAAGGAAGGGAG		BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3						chr3	TogoVar
BCKDHA_chr19_41392818_41430002	41429824	G G	GATTTTTT others(4): Show GATTTTTTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	374	0.0027	11	c.52 others(22): Show c.5216_*5217insATTTTTTGTTT		BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding					4823		chr19	TogoVar
BCKDK_chr16_31103386_31117791	31103565	C C	CTCTCGTC others(4): Show CTCTCGTCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	300	0.0033	11	c.-50 others(22): Show c.-5092_-5091insTCTCGTCTCCG		BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding					4820		chr16	TogoVar
BCL11A_chr2_60452194_60558654	60471115	C C	CTTTCGAA others(4): Show CTTTCGAAAAGT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0257 a0001c0001t0016g0257	1	262	0.0038	11	c.386 others(28): Show c.386-2283_386-2282insACTTTTCGAAA		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3						chr2	TogoVar
BCL11A_chr2_60452194_60558654	60507241	A A	AGGGGAGG others(4): Show AGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	262	0.0038	11	c.386 others(30): Show c.386-38409_386-38408insCTCCCCTCCCC		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3						chr2	TogoVar
BCL11A_chr2_60452194_60558654	60540946	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	262	0.0038	11	c.385 others(28): Show c.385+5024_385+5025insCACACACACAC		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3						chr2	TogoVar
BCL11A_chr2_60452194_60558654	60553511	A A	AAAAAAAA others(4): Show AAAAAAAAGAGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01167.hp1 HG02818.hp1 HG03139.hp2 others(4): Show HG01167.hp1 HG02818.hp1 HG03139.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0064 a0001c0001t0065 a0001c0001t0013 a0001c0001t0064 a0001c0001t0065	a0001c0001t0013g0248 a0001c0001t0013g0249 a0001c0001t0013g0250 others(4): Show a0001c0001t0013g0248 a0001c0001t0013g0249 a0001c0001t0013g0250 a0001c0001t0013g0252 a0001c0001t0013g0253 a0001c0001t0064g0247 a0001c0001t0065g0251	7	262	0.0267	11	c.-24 others(20): Show c.-242_-241insCCTCTTTTTTT		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	1/4				242		chr2	TogoVar
BCL11B_chr14_99164287_99277197	99199681	T T	TGCGCGCG others(4): Show TGCGCGCGCAGC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0070 a0001c0002t0004g0070	1	350	0.0029	11	c.641 others(30): Show c.641-23487_641-23486insGCTGCGCGCGC		BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3						chr14	TogoVar
BCL2A1_chr15_79955892_79976196	79959784	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01346.hp2 others(22): Show HG01167.hp1 HG01169.hp1 HG01346.hp2 HG02027.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG04115.hp1 HG06807.hp1 NA19240.hp2 NA20129.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001	a0001c0001t0001g0099 a0003c0003t0001g0005 a0003c0003t0001g0041 others(6): Show a0001c0001t0001g0099 a0003c0003t0001g0005 a0003c0003t0001g0041 a0003c0003t0001g0077 a0004c0004t0001g0008 a0004c0004t0001g0012 a0004c0004t0001g0046 a0004c0004t0001g0088 a0005c0005t0001g0014	25	436	0.0573	11	c.12 others(22): Show c.1282_*1283insTTTTTTTTTTT		BCL2A1	ENSG00000140379.9	transcript	ENST00000267953.4	protein_coding					1107		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52111173	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	458	0.0022	11	c.489 others(28): Show c.489+1064_489+1065insGTGTGTGTGTG		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding	1/1						chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111170699	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02717.hp1 others(7): Show HG02280.hp2 HG02559.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG03041.hp1 HG03195.hp2 NA18949.hp1 NA18952.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 a0001c0002t0003	a0001c0001t0003g0004 a0001c0001t0003g0207 a0001c0001t0005g0169 others(6): Show a0001c0001t0003g0004 a0001c0001t0003g0207 a0001c0001t0005g0169 a0001c0001t0005g0184 a0001c0001t0005g0188 a0001c0001t0008g0030 a0001c0001t0019g0204 a0001c0002t0003g0211 a0001c0002t0003g0212	10	398	0.0251	11	c.64 others(22): Show c.6468_*6469insAAAAAAAAAAA		BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding					2256		chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17646955	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03710.hp1 HG03540.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0142 a0001c0001t0005g0143	2	306	0.0065	11	c.-51 others(28): Show c.-51+8070_-51+8071insATATATATATT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17646955	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0218 a0001c0001t0005g0218	1	306	0.0033	11	c.-51 others(28): Show c.-51+8070_-51+8071insATATATATTTT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17646955	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02451.hp1 HG02738.hp1 others(1): Show HG00735.hp1 HG02451.hp1 HG02738.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0033	a0001c0001t0002g0150 a0001c0001t0004g0201 a0001c0001t0005g0149 others(1): Show a0001c0001t0002g0150 a0001c0001t0004g0201 a0001c0001t0005g0149 a0001c0001t0033g0137	4	306	0.0131	11	c.-51 others(28): Show c.-51+8070_-51+8071insATATATTTTTT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17680215	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01074.hp2 HG01081.hp1 others(10): Show HG00423.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01175.hp2 HG01884.hp2 HG01934.hp2 HG02280.hp2 HG02300.hp2 HG02886.hp1 HG03225.hp1 HG03492.hp2 HG03654.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0003c0005 a0004c0006 a0003c0004 a0003c0005 a0004c0006	a0003c0004t0015 a0003c0004t0016 a0003c0004t0030 others(5): Show a0003c0004t0015 a0003c0004t0016 a0003c0004t0030 a0003c0004t0031 a0003c0005t0006 a0004c0006t0001 a0004c0006t0049 a0004c0006t0063	a0003c0004t0015g0081 a0003c0004t0015g0253 a0003c0004t0016g0087 others(10): Show a0003c0004t0015g0081 a0003c0004t0015g0253 a0003c0004t0016g0087 a0003c0004t0016g0088 a0003c0004t0030g0101 a0003c0004t0031g0254 a0003c0005t0006g0083 a0003c0005t0006g0084 a0003c0005t0006g0085 a0003c0005t0006g0086 a0004c0006t0001g0090 a0004c0006t0049g0091 a0004c0006t0063g0093	13	306	0.0425	11	c.122 others(28): Show c.122-2995_122-2985dupAAAAAAAAAAA		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17685760	C C	CTTTTTCT others(4): Show CTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02647.hp1 HG02723.hp1 HG01978.hp2 HG02647.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0028 a0001c0001t0041 a0001c0001t0010 a0001c0001t0028 a0001c0001t0041	a0001c0001t0010g0238 a0001c0001t0028g0302 a0001c0001t0041g0240 a0001c0001t0010g0238 a0001c0001t0028g0302 a0001c0001t0041g0240	3	306	0.0098	11	c.229 others(28): Show c.229+2444_229+2445insCTTTTTTTTTT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17685760	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0103 a0001c0001t0065g0103	1	306	0.0033	11	c.229 others(28): Show c.229+2458_229+2468dupTTTTTTTTTTT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17711304	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	306	0.0033	11	c.600 others(28): Show c.600+8919_600+8929dupTTTTTTTTTTT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715170	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0001g0266 a0002c0003t0001g0267	2	306	0.0065	11	c.601 others(30): Show c.601-11506_601-11505insATATATATTTT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715171	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0277 a0002c0003t0001g0277	1	306	0.0033	11	c.601 others(30): Show c.601-11506_601-11505insATATATATATA		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6						chr22	TogoVar
BCL2_chr18_63118346_63324769	63133319	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0120 a0001c0001t0020g0120	1	264	0.0038	11	c.586 others(28): Show c.586-4571_586-4561dupAAAAAAAAAAA		BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2						chr18	TogoVar
BCL2_chr18_63118346_63324769	63169248	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0074 a0001c0002t0009g0074	1	264	0.0038	11	c.586 others(30): Show c.586-40490_586-40489insGAAAGAAAGAA		BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2						chr18	TogoVar
BCL2_chr18_63118346_63324769	63169329	T T	TTCCTTTC others(4): Show TTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01192.hp2 HG01069.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0027 a0001c0001t0007 a0001c0002t0027	a0001c0001t0007g0131 a0001c0002t0027g0056 a0001c0001t0007g0131 a0001c0002t0027g0056	2	264	0.0076	11	c.586 others(30): Show c.586-40571_586-40570insGAAAGAAAGGA		BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2						chr18	TogoVar
BCL2_chr18_63118346_63324769	63169332	C C	CTTTCTTT others(4): Show CTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA18962.hp2 NA18994.hp2 others(1): Show HG00733.hp1 NA18962.hp2 NA18994.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0010	a0001c0001t0002g0019 a0001c0001t0003g0105 a0001c0001t0007g0226 others(1): Show a0001c0001t0002g0019 a0001c0001t0003g0105 a0001c0001t0007g0226 a0001c0002t0010g0250	4	264	0.0152	11	c.586 others(30): Show c.586-40574_586-40573insAAAGAAAGAAA		BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2						chr18	TogoVar
BCL2_chr18_63118346_63324769	63274277	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0045 a0001c0002t0011g0045	1	264	0.0038	11	c.585 others(30): Show c.585+43794_585+43804dupAAAAAAAAAAA		BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2						chr18	TogoVar
BCL3_chr19_44743708_44765044	44757112	C C	CACGGCCA others(4): Show CACGGCCAGAGG	frameshift_variant frameshift_variant	HIGH	NA18948.hp1 NA18948.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0138 a0005c0006t0006g0138	1	344	0.0029	11	c.615 others(18): Show c.615_616insACGGCCAGAGG	p.Gln others(5): Show p.Gln206fs	BCL3	ENSG00000069399.15	transcript	ENST00000164227.10	protein_coding	4/9	699/1877	616/1365	206/454			chr19	TogoVar
BCL7A_chr12_122016884_122067044	122038431	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp1 others(49): Show HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp1 HG01981.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02300.hp2 HG02735.hp1 HG03017.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG04184.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18945.hp1 NA18951.hp2 NA18961.hp2 NA18972.hp1 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18993.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19068.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0011 a0001c0001 a0001c0002 a0004c0011	a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 others(19): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0097 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011 a0001c0002t0013 a0001c0002t0027 a0001c0002t0033 a0001c0002t0034 a0001c0002t0044 a0001c0002t0092 a0001c0002t0093 a0001c0002t0094 a0001c0002t0099 a0004c0011t0011	a0001c0001t0004g0173 a0001c0001t0004g0188 a0001c0001t0004g0208 others(49): Show a0001c0001t0004g0173 a0001c0001t0004g0188 a0001c0001t0004g0208 a0001c0001t0004g0220 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0228 a0001c0001t0004g0233 a0001c0001t0005g0161 a0001c0001t0005g0184 a0001c0001t0005g0200 a0001c0001t0005g0235 a0001c0001t0005g0238 a0001c0001t0005g0240 a0001c0001t0010g0207 a0001c0001t0010g0250 a0001c0001t0014g0335 a0001c0001t0020g0185 a0001c0001t0029g0164 a0001c0001t0030g0195 a0001c0001t0097g0258 a0001c0002t0004g0154 a0001c0002t0004g0156 a0001c0002t0004g0219 a0001c0002t0004g0246 a0001c0002t0005g0201 a0001c0002t0005g0243 a0001c0002t0005g0256 a0001c0002t0006g0170 a0001c0002t0006g0194 a0001c0002t0006g0197 a0001c0002t0006g0214 a0001c0002t0006g0218 a0001c0002t0006g0231 a0001c0002t0006g0254 a0001c0002t0006g0257 a0001c0002t0011g0193 a0001c0002t0013g0190 a0001c0002t0013g0212 a0001c0002t0013g0213 a0001c0002t0013g0227 a0001c0002t0013g0230 a0001c0002t0027g0151 a0001c0002t0033g0203 a0001c0002t0034g0182 a0001c0002t0044g0168 a0001c0002t0044g0229 a0001c0002t0092g0171 a0001c0002t0093g0169 a0001c0002t0094g0237 a0001c0002t0099g0196 a0004c0011t0011g0215	52	362	0.1437	11	c.271 others(28): Show c.271+3022_271+3032dupAAAAAAAAAAA		BCL7A	ENSG00000110987.9	transcript	ENST00000261822.5	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
BCL9_chr1_147536501_147631216	147540231	T T	TCTCTCTC others(4): Show TCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0089 a0001c0001t0005g0089	1	316	0.0032	11	c.-19 others(22): Show c.-1921_-1920insCTCTCTCTCTC		BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding					1269		chr1	TogoVar
BCL9_chr1_147536501_147631216	147540265	C C	CTCTCTCT others(4): Show CTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0195 a0001c0001t0014g0195	1	316	0.0032	11	c.-18 others(22): Show c.-1887_-1886insTCTCTCTCTCT		BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding					1235		chr1	TogoVar
BCL9_chr1_147536501_147631216	147551031	C C	CCTTATAA others(4): Show CCTTATAACAAT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	316	0.0032	11	c.-47 others(30): Show c.-478+9359_-478+9369dupTTATAACAATC		BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
BCLAF3_chrX_19907860_19996061	19951595	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG01981.hp1 others(12): Show HG01109.hp1 HG01891.hp1 HG01981.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02965.hp1 HG03195.hp2 HG03579.hp1 NA19006.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0018 a0001c0001t0027 a0001c0001t0037 a0001c0001t0039 a0001c0001t0044 a0001c0001t0046	a0001c0001t0001g0125 a0001c0001t0002g0036 a0001c0001t0003g0077 others(11): Show a0001c0001t0001g0125 a0001c0001t0002g0036 a0001c0001t0003g0077 a0001c0001t0003g0082 a0001c0001t0004g0002 a0001c0001t0014g0042 a0001c0001t0014g0043 a0001c0001t0014g0051 a0001c0001t0018g0006 a0001c0001t0027g0007 a0001c0001t0037g0037 a0001c0001t0039g0056 a0001c0001t0044g0087 a0001c0001t0046g0086	15	207	0.0725	11	c.163 others(28): Show c.1630-738_1630-728dupTTTTTTTTTTT		BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding	7/11						chrX	TogoVar
BCLAF3_chrX_19907860_19996061	19995664	A A	AGAAAGGA others(4): Show AGAAAGGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0093 a0001c0001t0023g0093	1	207	0.0048	11	c.-47 others(22): Show c.-4792_-4791insCTCCTCCTTTC		BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding					4604		chrX	TogoVar
BCLAF3_chrX_19907860_19996061	19995664	A A	AGAAGGAA others(4): Show AGAAGGAAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0083 a0001c0001t0021g0083	1	207	0.0048	11	c.-47 others(22): Show c.-4792_-4791insCTCCTTCCTTC		BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding					4604		chrX	TogoVar
BCLAF3_chrX_19907860_19996061	19995668	G G	GAAAGAAA others(4): Show GAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0107 a0001c0001t0058g0107	1	207	0.0048	11	c.-47 others(22): Show c.-4796_-4795insTTTCTTTCTTT		BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding					4608		chrX	TogoVar
BCO1_chr16_81233689_81296142	81246850	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0010 a0006c0016t0001g0010	1	402	0.0025	11	c.193 others(28): Show c.193+1255_193+1265dupAAAAAAAAAAA		BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
BCO1_chr16_81233689_81296142	81250578	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG01074.hp2 others(5): Show HG00280.hp2 HG00733.hp1 HG01074.hp2 HG01168.hp1 HG01256.hp2 HG01258.hp2 HG02280.hp1 HG02486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0020 a0001c0005t0001g0021 a0001c0005t0001g0022 others(5): Show a0001c0005t0001g0020 a0001c0005t0001g0021 a0001c0005t0001g0022 a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0005t0001g0026 a0001c0005t0001g0027 a0001c0005t0001g0151	8	402	0.0199	11	c.193 others(28): Show c.193+4985_193+4995dupTTTTTTTTTTT		BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
BCO2_chr11_112170512_112223946	112192925	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01069.hp1 others(33): Show HG00639.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01433.hp2 HG01891.hp1 HG02273.hp1 HG02523.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02922.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03927.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18956.hp1 NA18959.hp2 NA18961.hp1 NA18970.hp1 NA18977.hp2 NA18982.hp2 NA18997.hp2 NA18999.hp1 NA19009.hp2 NA19030.hp1 NA19057.hp2 NA19086.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0012c0016	a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 a0012c0016t0001	a0001c0001t0001g0015 a0001c0001t0001g0061 a0001c0001t0001g0190 others(33): Show a0001c0001t0001g0015 a0001c0001t0001g0061 a0001c0001t0001g0190 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0335 a0001c0001t0001g0361 a0001c0007t0001g0286 a0001c0007t0001g0358 a0002c0002t0001g0293 a0012c0016t0001g0241	36	380	0.0947	11	c.294 others(26): Show c.294-541_294-531dupTTTTTTTTTTT		BCO2	ENSG00000197580.13	transcript	ENST00000357685.11	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
BCORL1_chrX_129977635_130063071	130043785	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01515.hp1 NA19067.hp1 HG00597.hp2 HG01515.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0009 a0001c0001t0001g0104 a0001c0001t0001g0115	3	203	0.0148	11	c.484 others(30): Show c.4840+4503_4840+4504insATATATATATA		BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13						chrX	TogoVar
BDH1_chr3_197504783_197560968	197510681	T T	TGTGTGTG others(4): Show TGTGTGTGTGTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0191 a0001c0001t0191	a0001c0001t0191g0149 a0001c0001t0191g0149	1	319	0.0031	11	c.12 others(22): Show c.1213_*1214insTACACACACAC		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8				1213		chr3	TogoVar
BDH1_chr3_197504783_197560968	197510684	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0225 a0001c0001t0054g0225	1	319	0.0031	11	c.12 others(22): Show c.1210_*1211insACACACACACA		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8				1210		chr3	TogoVar
BDH1_chr3_197504783_197560968	197542521	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG03579.hp2 others(2): Show HG02257.hp2 HG02622.hp1 HG03579.hp2 NA18522.hp1 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 others(2): Show a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0094 a0005c0007t0061	a0001c0001t0088g0250 a0001c0001t0089g0242 a0001c0001t0090g0241 others(2): Show a0001c0001t0088g0250 a0001c0001t0089g0242 a0001c0001t0090g0241 a0001c0001t0094g0240 a0005c0007t0061g0052	5	319	0.0157	11	c.83+ others(26): Show c.83+3829_83+3839dupAAAAAAAAAAA		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	3/7						chr3	TogoVar

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