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
ACOXL_chr2_110727573_111123548	111120979	T T	TGCCGCCG others(5): Show TGCCGCCGCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	150	0.0067	12	c.31 others(23): Show c.3163_*3164insGCCGCCGCCGCC	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding		2432		chr2	TogoVar
ACOXL_chr2_110727573_111123548	111120979	T T	TGCCGCTG others(5): Show TGCCGCTGCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 NA20129.hp1 HG02723.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0123 a0001c0001t0002g0006 a0001c0001t0002g0123	2	150	0.0133	12	c.31 others(23): Show c.3163_*3164insGCCGCTGCCGCC	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding		2432		chr2	TogoVar
ACP2_chr11_47234302_47253814	47245857	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19058.hp1 NA19063.hp2 others(1): Show NA18971.hp2 NA19058.hp1 NA19063.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0053 a0001c0001t0001g0022 a0001c0001t0001g0053	4	358	0.0112	12	c.298 others(25): Show c.298-35_298-24dupACACACACACAC	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding	3/10			chr11	TogoVar
ACP3_chr3_132312407_132363841	132325595	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02897.hp1 HG03098.hp1 others(4): Show HG02486.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp2 HG03540.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0026 a0001c0001t0030 others(3): Show a0001c0001t0001 a0001c0001t0026 a0001c0001t0030 a0001c0002t0003 a0001c0002t0004 a0002c0004t0014	a0001c0001t0001g0154 a0001c0001t0026g0132 a0001c0001t0030g0115 others(4): Show a0001c0001t0001g0154 a0001c0001t0026g0132 a0001c0001t0030g0115 a0001c0002t0003g0131 a0001c0002t0004g0085 a0001c0002t0004g0130 a0002c0004t0014g0137	7	368	0.0190	12	c.121 others(29): Show c.121-2659_121-2648dupACACACACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP3_chr3_132312407_132363841	132325618	A A	ACACACAC others(5): Show ACACACACACACC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0086 a0001c0002t0004g0086	1	368	0.0027	12	c.121 others(29): Show c.121-2648_121-2647insACACACACACCC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP3_chr3_132312407_132363841	132347844	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01169.hp1 others(8): Show HG00735.hp1 HG01081.hp1 HG01169.hp1 HG01175.hp2 HG01346.hp2 HG02300.hp1 HG02602.hp2 HG02886.hp2 HG03710.hp2 HG04199.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0003 a0001c0002t0004 a0001c0002t0011	a0001c0002t0003g0051 a0001c0002t0003g0053 a0001c0002t0003g0056 others(8): Show a0001c0002t0003g0051 a0001c0002t0003g0053 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0061 a0001c0002t0004g0119 a0001c0002t0004g0120 a0001c0002t0004g0127 a0001c0002t0004g0128 a0001c0002t0004g0178 a0001c0002t0011g0052	11	368	0.0299	12	c.782 others(29): Show c.782-2059_782-2048dupACACACACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP3_chr3_132312407_132363841	132358033	C C	CAATAAAT others(5): Show CAATAAATAAATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0096 a0001c0002t0034g0096	1	368	0.0027	12	c.11 others(23): Show c.1190_*1201dupTAAATAAATAAA	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	10/10	1202	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP3_chr3_132312407_132363841	132358076	T T	TAAATAAA others(5): Show TAAATAAATAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0005 a0001c0001t0038g0005	1	368	0.0027	12	c.12 others(23): Show c.1201_*1202insTAAATAAAAAAA	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	10/10	1202	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP4_chr19_50785415_50800219	50786914	G G	GCAGTTTG others(5): Show GCAGTTTGGGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	12	c.-35 others(23): Show c.-3501_-3500insCAGTTTGGGTGT	ACP4	ENSG00000142513.6	transcript	ENST00000270593.2	protein_coding		3500		chr19	TogoVar
ACP6_chr1_147637230_147675524	147673342	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02074.hp2 HG02258.hp2 others(3): Show HG00544.hp1 HG02074.hp2 HG02258.hp2 HG02895.hp2 NA19084.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0043	6	404	0.0149	12	c.-32 others(23): Show c.-3295_-3294insTTTTTTTTTTTT	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding		2819		chr1	TogoVar
ACP7_chr19_39079368_39116493	39102118	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0307 a0001c0004t0009g0307	1	402	0.0025	12	c.111 others(29): Show c.1113+582_1113+583insACACACACACAC	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACP7_chr19_39079368_39116493	39102715	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG01168.hp2 others(17): Show HG00408.hp1 HG00639.hp2 HG01168.hp2 HG01169.hp2 HG01257.hp2 HG01928.hp1 HG02055.hp1 HG02273.hp2 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02897.hp1 HG04204.hp1 NA18942.hp2 NA18999.hp2 NA19064.hp2 NA19079.hp1 NA19084.hp2 NA19087.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0001c0012 a0003c0013	a0001c0001t0006 a0001c0001t0014 a0001c0003t0003 others(6): Show a0001c0001t0006 a0001c0001t0014 a0001c0003t0003 a0001c0003t0006 a0001c0003t0019 a0001c0003t0020 a0001c0007t0006 a0001c0012t0006 a0003c0013t0006	a0001c0001t0006g0091 a0001c0001t0014g0137 a0001c0003t0003g0014 others(17): Show a0001c0001t0006g0091 a0001c0001t0014g0137 a0001c0003t0003g0014 a0001c0003t0003g0263 a0001c0003t0003g0269 a0001c0003t0003g0277 a0001c0003t0003g0283 a0001c0003t0003g0287 a0001c0003t0003g0295 a0001c0003t0003g0301 a0001c0003t0006g0038 a0001c0003t0006g0272 a0001c0003t0006g0305 a0001c0003t0019g0007 a0001c0003t0020g0264 a0001c0007t0006g0104 a0001c0007t0006g0110 a0001c0012t0006g0216 a0001c0012t0006g0217 a0003c0013t0006g0108	20	402	0.0498	12	c.111 others(31): Show c.1113+1220_1113+1231dupTTCTTTCTTTCT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACRV1_chr11_125666522_125685847	125679216	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18950.hp2 NA18951.hp2 HG00544.hp2 NA18950.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068	3	426	0.0070	12	c.53- others(25): Show c.53-931_53-920dupAAAAAAAAAAAA	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	1/3			chr11	TogoVar
ACSBG1_chr15_78162468_78239565	78165681	C C	CTTTATTT others(5): Show CTTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01243.hp1 HG02027.hp2 others(4): Show HG01071.hp1 HG01243.hp1 HG02027.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 NA18986.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0005 a0003c0004 a0002c0002 a0002c0005 a0003c0004	a0002c0002t0001 a0002c0002t0002 a0002c0005t0006 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0005t0006 a0003c0004t0003	a0002c0002t0001g0062 a0002c0002t0002g0024 a0002c0002t0002g0117 others(4): Show a0002c0002t0001g0062 a0002c0002t0002g0024 a0002c0002t0002g0117 a0002c0005t0006g0233 a0003c0004t0003g0051 a0003c0004t0003g0052 a0003c0004t0003g0093	7	350	0.0200	12	c.57 others(23): Show c.5751_*5762dupTAAATAAATAAA	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding		1786		chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78215724	G G	GAGAAAGA others(5): Show GAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02027.hp2 HG02040.hp1 others(16): Show HG01261.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02129.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG03139.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG04115.hp2 NA18954.hp1 NA18973.hp1 NA18990.hp2 NA19010.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0021 a0002c0002 others(2): Show a0001c0001 a0001c0021 a0002c0002 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0028 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0028 a0001c0021t0023 a0002c0002t0002 a0002c0005t0005 a0002c0005t0033 a0003c0004t0003 a0003c0004t0021	a0001c0001t0001g0009 a0001c0001t0001g0087 a0001c0001t0001g0107 others(16): Show a0001c0001t0001g0009 a0001c0001t0001g0087 a0001c0001t0001g0107 a0001c0001t0001g0136 a0001c0001t0001g0221 a0001c0001t0001g0257 a0001c0001t0001g0292 a0001c0001t0001g0308 a0001c0001t0001g0317 a0001c0001t0007g0173 a0001c0001t0028g0007 a0001c0021t0023g0092 a0002c0002t0002g0103 a0002c0005t0005g0043 a0002c0005t0005g0210 a0002c0005t0033g0042 a0003c0004t0003g0093 a0003c0004t0003g0323 a0003c0004t0021g0184	19	350	0.0543	12	c.132 others(29): Show c.132-7634_132-7623dupTTCTTTCTTTCT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13			chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78215731	A A	AAAGAAAG others(5): Show AAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02572.hp1 HG02738.hp2 others(7): Show HG00558.hp1 HG02572.hp1 HG02738.hp2 HG03195.hp1 HG03453.hp1 HG03486.hp2 NA18948.hp2 NA19003.hp2 NA19083.hp1 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0002c0003 a0002c0010 a0003c0004 a0005c0018	a0001c0001t0001 a0001c0006t0010 a0002c0002t0002 others(4): Show a0001c0001t0001 a0001c0006t0010 a0002c0002t0002 a0002c0003t0001 a0002c0010t0019 a0003c0004t0003 a0005c0018t0001	a0001c0001t0001g0331 a0001c0006t0010g0274 a0002c0002t0002g0206 others(7): Show a0001c0001t0001g0331 a0001c0006t0010g0274 a0002c0002t0002g0206 a0002c0003t0001g0020 a0002c0003t0001g0123 a0002c0003t0001g0241 a0002c0003t0001g0302 a0002c0010t0019g0189 a0003c0004t0003g0051 a0005c0018t0001g0253	10	350	0.0286	12	c.132 others(29): Show c.132-7630_132-7629insCCTTTCTTTCTT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13			chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78225401	C C	CAATAAAT others(5): Show CAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG00642.hp2 others(48): Show HG00597.hp1 HG00639.hp1 HG00642.hp2 HG01070.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01952.hp2 HG01978.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03516.hp2 HG03540.hp2 HG06807.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18970.hp2 NA18971.hp2 NA19003.hp2 NA19043.hp1 NA19072.hp1 NA19074.hp1 NA19082.hp1 NA19084.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0002 others(3): Show a0001c0001 a0001c0006 a0002c0002 a0002c0003 a0002c0007 a0003c0004	a0001c0001t0001 a0001c0001t0008 a0001c0006t0010 others(7): Show a0001c0001t0001 a0001c0001t0008 a0001c0006t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0024 a0002c0003t0001 a0002c0007t0011 a0003c0004t0003	a0001c0001t0001g0104 a0001c0001t0001g0282 a0001c0001t0001g0283 others(48): Show a0001c0001t0001g0104 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0331 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0345 a0001c0001t0008g0307 a0001c0001t0008g0334 a0001c0006t0010g0295 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0303 a0002c0002t0004g0154 a0002c0002t0004g0155 a0002c0002t0024g0313 a0002c0003t0001g0298 a0002c0003t0001g0299 a0002c0003t0001g0302 a0002c0003t0001g0318 a0002c0003t0001g0342 a0002c0007t0011g0324 a0002c0007t0011g0330 a0003c0004t0003g0309 a0003c0004t0003g0323 a0003c0004t0003g0343	51	350	0.1457	12	c.131 others(29): Show c.131+8958_131+8969dupTATTTATTTATT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13			chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78235958	A A	AACACACA others(5): Show AACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02145.hp2 HG02886.hp1 others(8): Show HG00735.hp1 HG02145.hp2 HG02886.hp1 HG03209.hp1 NA18945.hp2 NA18959.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19064.hp1 NA19066.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0019 a0003c0004	a0001c0001t0001 a0002c0002t0004 a0002c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0004 a0002c0003t0001 a0002c0019t0005 a0003c0004t0021	a0001c0001t0001g0069 a0001c0001t0001g0113 a0001c0001t0001g0125 others(8): Show a0001c0001t0001g0069 a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0151 a0002c0002t0004g0191 a0002c0003t0001g0143 a0002c0003t0001g0169 a0002c0019t0005g0175 a0003c0004t0021g0184	11	350	0.0314	12	c.-14 others(23): Show c.-1469_-1458dupGTGTGTGTGTGT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding		1394		chr15	TogoVar
ACSBG2_chr19_6130667_6198091	6154402	A A	AAGAGAGA others(5): Show AAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	262	0.0038	12	c.387 others(29): Show c.387-2009_387-1998dupGAGAGAGAGAGA	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6166280	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02055.hp1 HG02572.hp2 others(4): Show HG00099.hp2 HG02055.hp1 HG02572.hp2 HG02738.hp1 HG03486.hp2 HG03669.hp2 NA18981.hp1	a0002 a0006 a0014 a0002 a0006 a0014	a0002c0002 a0006c0007 a0014c0023 a0002c0002 a0006c0007 a0014c0023	a0002c0002t0001 a0002c0002t0005 a0006c0007t0001 others(1): Show a0002c0002t0001 a0002c0002t0005 a0006c0007t0001 a0014c0023t0001	a0002c0002t0001g0021 a0002c0002t0001g0091 a0002c0002t0001g0103 others(4): Show a0002c0002t0001g0021 a0002c0002t0001g0091 a0002c0002t0001g0103 a0002c0002t0001g0124 a0002c0002t0005g0116 a0006c0007t0001g0060 a0014c0023t0001g0201	7	262	0.0267	12	c.738 others(27): Show c.738+305_738+316dupGTGTGTGTGTGT	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6166280	T T	TTGTGTGT others(5): Show TTGTGTGTGTTTG	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18612.hp2 HG02129.hp1 NA18612.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0134 a0004c0003t0002g0135 a0004c0003t0002g0134 a0004c0003t0002g0135	2	262	0.0076	12	c.738 others(27): Show c.738+274_738+275insTTGTGTGTGTGT	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6166280	T T	TTTTGTGT others(5): Show TTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0244 a0003c0005t0001g0244	1	262	0.0038	12	c.738 others(27): Show c.738+266_738+267insTTGTGTGTGTGT	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6190798	C C	CACACACA others(5): Show CACACACATACAT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0045 a0004c0003t0001g0045	1	262	0.0038	12	c.35 others(27): Show c.35+107_*35+108insCACACATACATA	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSF2_chr17_50421218_50479837	50461927	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03486.hp1 HG02451.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0133 a0001c0002t0002g0188 a0001c0002t0001g0133 a0001c0002t0002g0188	2	320	0.0063	12	c.508 others(27): Show c.508-243_508-232dupTGTGTGTGTGTG	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
ACSF3_chr16_89088852_89161233	89112641	C C	CGTCTGTC others(5): Show CGTCTGTCTCTCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0052 a0002c0003t0052	a0002c0003t0052g0240 a0002c0003t0052g0240	1	368	0.0027	12	c.977 others(27): Show c.977+399_977+400insGTCTCTCTGTCT	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89147524	C C	CGGGGGGG others(5): Show CGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp2 HG02622.hp1 others(2): Show HG02602.hp1 HG02602.hp2 HG02622.hp1 HG03654.hp1 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0004 a0002c0002t0006 others(1): Show a0001c0001t0001 a0002c0002t0004 a0002c0002t0006 a0002c0003t0006	a0001c0001t0001g0254 a0002c0002t0004g0214 a0002c0002t0004g0225 others(2): Show a0001c0001t0001g0254 a0002c0002t0004g0214 a0002c0002t0004g0225 a0002c0002t0006g0135 a0002c0003t0006g0019	5	368	0.0136	12	c.161 others(31): Show c.1613+1476_1613+1487dupGGGGGGGGGGGG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSL3_chr2_222856036_222949639	222865794	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0246 a0001c0001t0004g0246	1	252	0.0040	12	c.-20 others(31): Show c.-207+4556_-207+4567dupGTGTGTGTGTGT	ACSL3	ENSG00000123983.15	transcript	ENST00000357430.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACSL3_chr2_222856036_222949639	222897919	A A	AGAGGGGG others(5): Show AGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0012 a0002c0003t0020g0012	1	252	0.0040	12	c.-14 others(31): Show c.-147-2733_-147-2722dupGGGGAGGGGGAG	ACSL3	ENSG00000123983.15	transcript	ENST00000357430.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACSL3_chr2_222856036_222949639	222901964	A A	AAAAAAAA others(5): Show AAAAAAAAAAATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00544.hp1 others(36): Show HG00099.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG01169.hp1 HG01243.hp1 HG01361.hp2 HG01952.hp1 HG01978.hp2 HG02040.hp1 HG02080.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp1 HG02486.hp1 HG02559.hp1 HG02735.hp1 HG02818.hp1 HG02970.hp1 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 NA18940.hp1 NA18941.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18966.hp1 NA18977.hp2 NA18982.hp2 NA19004.hp2 NA19011.hp1 NA19063.hp1 NA19065.hp1 NA19080.hp2 NA19084.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0026	a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 others(36): Show a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0225 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0003g0163 a0001c0001t0003g0203 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0010g0214 a0001c0001t0011g0151 a0001c0001t0011g0231 a0001c0001t0012g0202 a0001c0001t0026g0232	39	252	0.1548	12	c.-41 others(29): Show c.-41+1184_-41+1185insAAAAAAAAAATG	ACSL3	ENSG00000123983.15	transcript	ENST00000357430.8	protein_coding	3/16			chr2	TogoVar
ACSL3_chr2_222856036_222949639	222947284	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00544.hp2 others(72): Show HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00639.hp2 HG00642.hp1 HG01069.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02486.hp2 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03209.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03688.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp2 NA18960.hp2 NA18964.hp2 NA18966.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp1 NA19004.hp1 NA19011.hp2 NA19043.hp1 NA19065.hp2 NA19068.hp1 NA19080.hp1 NA19084.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0025 a0001c0002t0005 a0001c0006t0001 a0004c0005t0022	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(70): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0188 a0001c0001t0001g0228 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0002g0148 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0163 a0001c0001t0010g0141 a0001c0001t0010g0200 a0001c0001t0012g0202 a0001c0001t0012g0216 a0001c0001t0017g0066 a0001c0001t0025g0086 a0001c0002t0005g0128 a0001c0006t0001g0095 a0004c0005t0022g0205	75	252	0.2976	12	c.56 others(23): Show c.5630_*5631insTTTTTTTTTTTT	ACSL3	ENSG00000123983.15	transcript	ENST00000357430.8	protein_coding		2646		chr2	TogoVar
ACSL5_chr10_112369116_112433376	112401786	C C	CTCTTTCT others(5): Show CTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	364	0.0028	12	c.266 others(29): Show c.266-2680_266-2669dupTCTTTCTTTCTT	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112401839	T T	TCTTTCTT others(5): Show TCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG04199.hp2 HG03491.hp2 HG04199.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0006c0011t0001 a0001c0001t0001 a0006c0011t0001	a0001c0001t0001g0089 a0006c0011t0001g0077 a0001c0001t0001g0089 a0006c0011t0001g0077	2	364	0.0055	12	c.266 others(29): Show c.266-2669_266-2668insTCTTTCTTCCTT	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112419102	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01258.hp1 others(2): Show HG01069.hp2 HG01071.hp2 HG01258.hp1 HG02683.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0235 a0001c0001t0001g0240 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0302	5	364	0.0137	12	c.131 others(31): Show c.1314+1179_1314+1190dupGTGTGTGTGTGT	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL6_chr5_131944973_132016658	131967668	T T	TTAATAAT others(5): Show TTAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0127 a0001c0001t0018g0127	1	326	0.0031	12	c.159 others(29): Show c.1596+260_1596+271dupTTATTATTATTA	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	16/20			chr5	TogoVar
ACSM1_chr16_20618235_20702680	20627864	G G	GTATACAT others(5): Show GTATACATACATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03486.hp1 NA18956.hp2 HG02809.hp2 HG03486.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0102 a0001c0001t0002g0207 a0001c0001t0002g0089 a0001c0001t0002g0102 a0001c0001t0002g0207	3	318	0.0094	12	c.130 others(29): Show c.1300-549_1300-548insTATGTATGTATA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	10/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20635580	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	318	0.0031	12	c.129 others(31): Show c.1299+1147_1299+1158dupGAAAGAAAGAAA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	10/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20664147	G G	GTATTTAT others(5): Show GTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00609.hp2 others(28): Show HG00099.hp1 HG00438.hp1 HG00609.hp2 HG00733.hp2 HG01081.hp1 HG01123.hp2 HG02015.hp1 HG02083.hp1 HG02132.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG04228.hp2 NA18945.hp1 NA18972.hp1 NA18977.hp1 NA18982.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19064.hp1 NA19081.hp1 NA19083.hp1 NA20300.hp1 NA20905.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0016 others(1): Show a0001c0001 a0001c0002 a0001c0016 a0010c0017	a0001c0001t0002 a0001c0002t0001 a0001c0016t0001 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0016t0001 a0010c0017t0001	a0001c0001t0002g0153 a0001c0001t0002g0199 a0001c0001t0002g0237 others(28): Show a0001c0001t0002g0153 a0001c0001t0002g0199 a0001c0001t0002g0237 a0001c0001t0002g0262 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0042 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0091 a0001c0002t0001g0113 a0001c0002t0001g0156 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0173 a0001c0002t0001g0214 a0001c0002t0001g0217 a0001c0002t0001g0222 a0001c0002t0001g0233 a0001c0002t0001g0251 a0001c0002t0001g0308 a0001c0016t0001g0070 a0010c0017t0001g0071	31	318	0.0975	12	c.913 others(29): Show c.913-2286_913-2275dupAATAAATAAATA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	6/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20669441	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG02886.hp2 others(2): Show HG02486.hp1 HG02572.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 others(2): Show a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0076	5	318	0.0157	12	c.912 others(27): Show c.912+374_912+385dupGTGTGTGTGTGT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	6/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20670372	A A	ATGGATCA others(5): Show ATGGATCAGGTAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	318	0.0031	12	c.753 others(27): Show c.753-387_753-386insGTACCTGATCCA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	5/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20672471	A A	AAAAAAAA others(5): Show AAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0141 a0001c0003t0001g0141	1	318	0.0031	12	c.612 others(27): Show c.612-801_612-800insATATTTTTTTTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20672471	A A	AAAAAAAA others(5): Show AAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0108 a0001c0003t0004g0108	1	318	0.0031	12	c.612 others(27): Show c.612-801_612-800insATATATTTTTTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20672471	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	318	0.0031	12	c.612 others(27): Show c.612-812_612-801dupATATATATATAT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20678011	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(103): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02896.hp1 HG02922.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03654.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp2 NA18961.hp1 NA18967.hp2 NA18968.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18981.hp2 NA18982.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18992.hp1 NA18994.hp1 NA19001.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19054.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0003c0006 a0005c0010 a0006c0009	a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 others(8): Show a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0007t0001 a0001c0008t0003 a0003c0006t0001 a0005c0010t0002 a0006c0009t0001	a0001c0001t0002g0004 a0001c0001t0002g0027 a0001c0001t0002g0044 others(101): Show a0001c0001t0002g0004 a0001c0001t0002g0027 a0001c0001t0002g0044 a0001c0001t0002g0094 a0001c0001t0002g0147 a0001c0001t0002g0155 a0001c0001t0002g0164 a0001c0001t0002g0175 a0001c0001t0002g0197 a0001c0001t0002g0215 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0235 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0254 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0007g0236 a0001c0002t0001g0003 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0133 a0001c0002t0001g0177 a0001c0003t0001g0017 a0001c0003t0001g0034 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0086 a0001c0003t0001g0088 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0109 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0134 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0151 a0001c0003t0001g0174 a0001c0003t0001g0176 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0183 a0001c0003t0001g0190 a0001c0003t0001g0196 a0001c0003t0001g0198 a0001c0003t0001g0205 a0001c0003t0001g0219 a0001c0003t0001g0221 a0001c0003t0001g0245 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0304 a0001c0003t0001g0305 a0001c0003t0001g0307 a0001c0003t0001g0314 a0001c0003t0004g0108 a0001c0003t0005g0033 a0001c0007t0001g0005 a0001c0008t0003g0097 a0003c0006t0001g0116 a0003c0006t0001g0117 a0005c0010t0002g0277 a0006c0009t0001g0082 a0006c0009t0001g0101	106	318	0.3333	12	c.611 others(29): Show c.611+4233_611+4244dupATTTATTTATTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20683715	C C	CTCTTTCT others(5): Show CTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA20905.hp2 HG00733.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0050 a0001c0002t0001g0043 a0001c0002t0001g0050	2	318	0.0063	12	c.404 others(29): Show c.404-1264_404-1253dupAAGAAAGAAAGA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	3/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20691751	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	318	0.0031	12	c.-51 others(27): Show c.-51-524_-51-513dupCACACACACACA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	1/13			chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20458905	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02602.hp2 NA19060.hp2 others(1): Show HG01993.hp1 HG02602.hp2 NA19060.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(1): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100	4	436	0.0092	12	c.-8- others(27): Show c.-8-1186_-8-1175dupTATATATATATA	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20488494	C C	CAGAGAGA others(5): Show CAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0337 a0004c0004t0002g0337	1	436	0.0023	12	c.18 others(23): Show c.1816_*1817insAGAGAGAGAGAG	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding		826		chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20535485	C C	CTCTGTGT others(5): Show CTCTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0237 a0001c0002t0002g0237	1	388	0.0026	12	c.17 others(23): Show c.1772_*1773insCACACACACAGA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding		740		chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20535485	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG02132.hp1 HG02647.hp2 others(1): Show HG01175.hp2 HG02132.hp1 HG02647.hp2 NA18945.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0010 a0001c0002 a0006c0010	a0001c0002t0004 a0006c0010t0003 a0001c0002t0004 a0006c0010t0003	a0001c0002t0004g0030 a0001c0002t0004g0278 a0001c0002t0004g0283 others(1): Show a0001c0002t0004g0030 a0001c0002t0004g0278 a0001c0002t0004g0283 a0006c0010t0003g0117	4	388	0.0103	12	c.17 others(23): Show c.1772_*1773insCACACACACACA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding		740		chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20566247	T T	TTTTATAT others(5): Show TTTTATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02559.hp1 HG03486.hp2 others(4): Show HG01256.hp1 HG02559.hp1 HG03486.hp2 NA18974.hp1 NA19062.hp2 NA19070.hp1 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0019 a0002c0029 a0002c0003 a0002c0019 a0002c0029	a0002c0003t0005 a0002c0003t0010 a0002c0019t0006 others(1): Show a0002c0003t0005 a0002c0003t0010 a0002c0019t0006 a0002c0029t0010	a0002c0003t0005g0050 a0002c0003t0005g0068 a0002c0003t0005g0069 others(4): Show a0002c0003t0005g0050 a0002c0003t0005g0068 a0002c0003t0005g0069 a0002c0003t0010g0083 a0002c0019t0006g0070 a0002c0019t0006g0090 a0002c0029t0010g0080	7	388	0.0180	12	c.-8- others(27): Show c.-8-1395_-8-1394insTATATATATAAA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar

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