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
ACSM3_chr16_20759014_20802581	20793470	A A	AAAAAATA others(5): Show AAAAAATAAAAAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03471.hp2 HG02486.hp2 HG03471.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0050 a0007c0009t0001g0050	2	356	0.0056	12	c.155 others(31): Show c.1554+1147_1554+1158dupTAAAAATAAAAA	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20409274	A A	AAAACAAA others(5): Show AAAACAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG03130.hp1 NA19043.hp2 others(1): Show HG02145.hp2 HG03130.hp1 NA19043.hp2 NA20300.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0006 a0008c0008t0006	a0008c0008t0006g0341 a0008c0008t0006g0342 a0008c0008t0006g0343 others(1): Show a0008c0008t0006g0341 a0008c0008t0006g0342 a0008c0008t0006g0343 a0008c0008t0006g0344	4	434	0.0092	12	c.-40 others(21): Show c.-407_-406insAAACAAACAAAC	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding		259		chr16	TogoVar
ACSM5_chr16_20404534_20446336	20421615	C C	CTATATAT others(5): Show CTATATATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	434	0.0023	12	c.767 others(27): Show c.767+245_767+256dupTATATATATATA	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20430779	A A	AAAGGAAA others(5): Show AAAGGAAAGAAGG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0103 a0003c0003t0003g0103	1	434	0.0023	12	c.112 others(29): Show c.1126-208_1126-207insAGAAGGAAGGAA	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20431945	A A	AAATAATA others(5): Show AAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0108 a0003c0003t0003g0108	1	434	0.0023	12	c.130 others(29): Show c.1308+626_1308+627insTAATAATAATAA	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20432847	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19070.hp1 NA19066.hp2 NA19070.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0005 a0001c0001t0001 a0004c0004t0005	a0001c0001t0001g0181 a0004c0004t0005g0318 a0001c0001t0001g0181 a0004c0004t0005g0318	2	434	0.0046	12	c.130 others(31): Show c.1308+1541_1308+1552dupTTTTTTTTTTTT	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20443452	T T	TTGAATGA others(5): Show TTGAATGAATGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00621.hp1 others(41): Show HG00408.hp2 HG00558.hp1 HG00621.hp1 HG00741.hp2 HG01074.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG02015.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02698.hp2 HG02738.hp1 HG03669.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18988.hp1 NA18995.hp2 NA18998.hp1 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19082.hp2 NA19090.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0021	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0021c0042	a0001c0001t0001 a0001c0001t0003 a0002c0002t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0004 a0003c0003t0003 a0004c0004t0005 a0005c0005t0003 a0005c0005t0009 a0021c0042t0003	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0003g0130 others(39): Show a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0003g0130 a0002c0002t0004g0060 a0003c0003t0003g0008 a0003c0003t0003g0016 a0003c0003t0003g0017 a0003c0003t0003g0080 a0003c0003t0003g0090 a0003c0003t0003g0096 a0003c0003t0003g0103 a0003c0003t0003g0108 a0003c0003t0003g0109 a0003c0003t0003g0110 a0003c0003t0003g0112 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0115 a0003c0003t0003g0117 a0003c0003t0003g0137 a0003c0003t0003g0140 a0003c0003t0003g0144 a0003c0003t0003g0145 a0003c0003t0003g0165 a0003c0003t0003g0166 a0003c0003t0003g0167 a0003c0003t0003g0168 a0003c0003t0003g0170 a0003c0003t0003g0171 a0003c0003t0003g0195 a0003c0003t0003g0214 a0003c0003t0003g0226 a0003c0003t0003g0228 a0003c0003t0003g0247 a0003c0003t0003g0293 a0004c0004t0005g0325 a0005c0005t0003g0254 a0005c0005t0009g0040 a0005c0005t0009g0335 a0005c0005t0009g0337 a0005c0005t0009g0338 a0021c0042t0003g0118	44	434	0.1014	12	c.30 others(23): Show c.3025_*3026insTGAATGAATGAA	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding		2117		chr16	TogoVar
ACSS1_chr20_25001237_25063139	25037001	A A	AAAGGAAG others(5): Show AAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0079 a0002c0028t0001g0079	1	244	0.0041	12	c.432 others(29): Show c.432-6044_432-6043insCCTTCCTTCCTT	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	2/13			chr20	TogoVar
ACSS2_chr20_34871612_34932959	34877909	C C	CAGATAGA others(5): Show CAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(79): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00738.hp1 HG01074.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01934.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02145.hp2 HG02273.hp2 HG02280.hp2 HG02523.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG03834.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA19007.hp1 NA19011.hp2 NA19072.hp2 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0010t0001 a0002c0004t0001 a0003c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0151 others(75): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0151 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0220 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0003g0186 a0001c0002t0001g0044 a0001c0010t0001g0018 a0002c0004t0001g0014 a0002c0004t0001g0147 a0002c0004t0001g0148 a0002c0004t0001g0149 a0002c0004t0001g0150 a0003c0005t0001g0001 a0003c0005t0001g0016 a0003c0005t0001g0017 a0003c0005t0001g0103 a0003c0005t0001g0122	82	312	0.2628	12	c.178 others(29): Show c.178+1109_178+1120dupATAGATAGATAG	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34899423	T T	TTTCCTTC others(5): Show TTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00544.hp1 others(18): Show HG00408.hp1 HG00423.hp2 HG00544.hp1 HG01109.hp2 HG01192.hp1 HG01993.hp2 HG02523.hp1 HG02559.hp1 HG02738.hp1 HG04115.hp2 NA18940.hp1 NA18951.hp1 NA18982.hp2 NA19003.hp1 NA19054.hp1 NA19068.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0001 a0001c0013t0001 a0001c0002t0001 a0001c0013t0001	a0001c0002t0001g0003 a0001c0002t0001g0029 a0001c0002t0001g0032 others(17): Show a0001c0002t0001g0003 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0077 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0105 a0001c0002t0001g0113 a0001c0013t0001g0072	21	312	0.0673	12	c.375 others(31): Show c.375-13638_375-13627dupCCTTCCTTCCTT	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34899423	T T	TTTCTTTC others(5): Show TTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	312	0.0032	12	c.375 others(31): Show c.375-13670_375-13669insTTTCCTTCCTTC	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS3_chr12_81073079_81266210	81073209	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02630.hp1 HG04115.hp1 HG02145.hp2 HG02630.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0045 a0001c0001t0003g0255 a0001c0002t0002g0244 a0001c0001t0001g0045 a0001c0001t0003g0255 a0001c0002t0002g0244	3	290	0.0103	12	c.-49 others(23): Show c.-4912_-4911insTTTTTTTTTTTT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding		4869		chr12	TogoVar
ACSS3_chr12_81073079_81266210	81094180	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0044 a0002c0004t0008g0044	1	290	0.0035	12	c.312 others(31): Show c.312-15379_312-15378insGTGTGTGTGTGT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81098151	A A	AGAGAGAG others(5): Show AGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0232 a0001c0001t0004g0232	1	290	0.0035	12	c.312 others(31): Show c.312-11408_312-11407insAGAGAGTGTGTG	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81098151	A A	AGAGTGTG others(5): Show AGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	290	0.0035	12	c.312 others(31): Show c.312-11408_312-11407insAGTGTGTGTGTG	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81107503	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	290	0.0035	12	c.312 others(29): Show c.312-2050_312-2049insTATATATATATA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81107511	C C	CACACATA others(5): Show CACACATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19089.hp2 NA18969.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0217 a0001c0001t0003g0208 a0001c0001t0003g0217	2	290	0.0069	12	c.312 others(29): Show c.312-2048_312-2047insCACATATATATA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81107552	A A	ATATATAT others(5): Show ATATATATATATG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	290	0.0035	12	c.312 others(29): Show c.312-2000_312-1999insTATGTATATATA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81121915	A A	ATATTATT others(5): Show ATATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02040.hp2 HG02132.hp2 others(15): Show HG00597.hp1 HG02040.hp2 HG02132.hp2 HG02486.hp2 HG03130.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 NA18960.hp1 NA18963.hp2 NA18969.hp1 NA18970.hp2 NA18995.hp2 NA19002.hp1 NA19054.hp1 NA19078.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 a0001c0002t0002 a0001c0010t0001	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 others(15): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0004g0021 a0001c0001t0004g0030 a0001c0001t0006g0017 a0001c0001t0010g0018 a0001c0001t0019g0029 a0001c0002t0002g0024 a0001c0010t0001g0005	18	290	0.0621	12	c.456 others(31): Show c.456+12234_456+12245dupATTATTATTATT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81172259	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0044 a0002c0004t0008g0044	1	290	0.0035	12	c.109 others(31): Show c.1099-2522_1099-2511dupAAAAAAAAAAAA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213779	T T	TTCTCTTC others(5): Show TTCTCTTCTCTTC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0103 a0001c0001t0006g0103	1	290	0.0035	12	c.135 others(31): Show c.1355-3122_1355-3121insTCTCTTCTCTTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15			chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213844	T T	TTCTCTTC others(5): Show TTCTCTTCTCTCC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	290	0.0035	12	c.135 others(31): Show c.1355-3057_1355-3056insTCTCTTCTCTCC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15			chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213896	T T	TTTTCCTT others(5): Show TTTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01167.hp1 HG02155.hp1 others(9): Show HG00423.hp2 HG01167.hp1 HG02155.hp1 HG04184.hp2 NA18955.hp2 NA18963.hp1 NA18975.hp2 NA19043.hp1 NA19064.hp2 NA19080.hp2 NA19084.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0009 a0001c0002t0002 a0001c0002t0009	a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0071 others(9): Show a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0071 a0001c0002t0002g0176 a0001c0002t0002g0182 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0193 a0001c0002t0002g0199 a0001c0002t0002g0213 a0001c0002t0009g0166 a0001c0002t0009g0194	12	290	0.0414	12	c.135 others(31): Show c.1355-3005_1355-3004insTTTCCTTCCTTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15			chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213957	C C	CTCTTTCT others(5): Show CTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01081.hp2 others(26): Show HG00609.hp1 HG00609.hp2 HG01081.hp2 HG01255.hp2 HG01257.hp2 HG01952.hp2 HG02040.hp2 HG02074.hp1 HG02109.hp1 HG02280.hp1 HG02572.hp1 HG02630.hp2 HG02723.hp1 HG02970.hp2 HG03486.hp1 HG03704.hp2 NA18954.hp1 NA18963.hp2 NA18973.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA19010.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0002c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 others(26): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0177 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0006g0113 a0001c0001t0006g0231 a0001c0001t0008g0081 a0001c0001t0010g0018 a0001c0001t0017g0114 a0002c0004t0001g0283	29	290	0.1000	12	c.135 others(31): Show c.1355-2905_1355-2894dupTTTCTTTCTTTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81251668	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG03209.hp2 HG02647.hp1 HG02717.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0022g0242 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0022g0242	3	290	0.0103	12	c.172 others(31): Show c.1720-1634_1720-1623dupAAAAAAAAAAAA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTA2_chr10_88930074_88957773	88932032	G G	GATTATTA others(5): Show GATTATTATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00738.hp1 others(55): Show HG00558.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG01943.hp2 HG01952.hp1 HG02055.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02273.hp2 HG02293.hp2 HG02683.hp2 HG03098.hp1 HG03225.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp2 HG04228.hp2 NA18522.hp1 NA18939.hp2 NA18947.hp2 NA18948.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18986.hp2 NA18988.hp1 NA18995.hp1 NA19002.hp1 NA19004.hp2 NA19030.hp1 NA19057.hp2 NA19058.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0014 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075	58	402	0.1443	12	c.31 others(23): Show c.3179_*3190dupAATAATAATAAT	ACTA2	ENSG00000107796.13	transcript	ENST00000224784.10	protein_coding		3041		chr10	TogoVar
ACTA2_chr10_88930074_88957773	88934612	T T	TACACACA others(5): Show TACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG02027.hp1 HG02572.hp2 others(4): Show HG01069.hp1 HG02027.hp1 HG02572.hp2 HG02698.hp1 NA18963.hp1 NA18990.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0034 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0099	7	402	0.0174	12	c.59 others(21): Show c.599_*610dupGTGTGTGTGTGT	ACTA2	ENSG00000107796.13	transcript	ENST00000224784.10	protein_coding		461		chr10	TogoVar
ACTG2_chr2_73888008_73924865	73901532	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0312 a0001c0002t0004g0312	1	416	0.0024	12	c.126 others(27): Show c.126+133_126+144dupGTGTGTGTGTGT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73902037	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02074.hp1 HG02132.hp1 others(1): Show HG01515.hp2 HG02074.hp1 HG02132.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0149 a0001c0001t0003g0080 a0001c0001t0003g0121 others(1): Show a0001c0001t0001g0149 a0001c0001t0003g0080 a0001c0001t0003g0121 a0001c0001t0003g0199	4	416	0.0096	12	c.127 others(27): Show c.127-320_127-319insGTGTGTGTCTGT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73902039	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00621.hp1 others(19): Show HG00140.hp1 HG00408.hp2 HG00621.hp1 HG01099.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG02015.hp2 HG02559.hp1 HG03209.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18982.hp1 NA19082.hp2 NA19083.hp2 NA19089.hp1 NA19240.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0015 a0001c0001t0001g0122 a0001c0001t0001g0141 others(16): Show a0001c0001t0001g0015 a0001c0001t0001g0122 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0319 a0001c0001t0001g0324 a0001c0001t0001g0342 a0001c0001t0001g0349 a0001c0001t0001g0352 a0001c0001t0003g0002 a0001c0001t0003g0076 a0001c0001t0003g0103 a0001c0001t0003g0196 a0001c0001t0003g0323	22	416	0.0529	12	c.127 others(27): Show c.127-320_127-319insGTGTGTGTGTCT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904777	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18963.hp2 HG02735.hp1 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0107 a0001c0002t0002g0164 a0001c0002t0002g0107 a0001c0002t0002g0164	2	416	0.0048	12	c.255 others(29): Show c.255+2316_255+2327dupTATATATATATA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904777	G G	GTGTATAT others(5): Show GTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	416	0.0024	12	c.255 others(29): Show c.255+2290_255+2291insGTATATATATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73906462	T T	TAATAAAT others(5): Show TAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG01169.hp1 others(10): Show HG01109.hp2 HG01167.hp2 HG01169.hp1 HG02258.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG03130.hp1 HG03195.hp2 HG03486.hp2 HG06807.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0027 a0001c0001t0003g0229 a0001c0001t0004g0003 others(9): Show a0001c0001t0001g0027 a0001c0001t0003g0229 a0001c0001t0004g0003 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0028 a0001c0001t0005g0373 a0001c0001t0005g0374 a0001c0001t0005g0381 a0001c0001t0005g0382 a0001c0001t0005g0383 a0001c0001t0005g0388	13	416	0.0313	12	c.256 others(29): Show c.256-2209_256-2208insTAAATAAATAAA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73906483	A A	AATAAATA others(5): Show AATAAATAAATAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02129.hp1 homoSapiens_chm13v2.hp1 HG00738.hp2 HG02129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0081 a0001c0001t0001g0148 a0001c0001t0001g0040 a0001c0001t0001g0081 a0001c0001t0001g0148	3	416	0.0072	12	c.256 others(29): Show c.256-2187_256-2186insAATAAATACATA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTL6A_chr3_179557926_179593407	179579453	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19043.hp2 HG03139.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0049 a0001c0001t0001g0052	2	380	0.0053	12	c.769 others(29): Show c.769-1186_769-1185insCACACACACACA	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACTL6A_chr3_179557926_179593407	179579455	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01361.hp1 HG02486.hp2 others(16): Show HG01261.hp1 HG01361.hp1 HG02486.hp2 HG02630.hp2 HG02965.hp2 HG03704.hp2 NA18522.hp1 NA18942.hp2 NA18945.hp1 NA18949.hp1 NA18966.hp1 NA18975.hp1 NA18984.hp2 NA18987.hp1 NA18992.hp1 NA18993.hp2 NA19082.hp1 NA19083.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0063 others(7): Show a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0063 a0001c0001t0001g0093 a0001c0001t0001g0138 a0001c0002t0001g0021 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0082 a0001c0002t0001g0089	19	380	0.0500	12	c.769 others(29): Show c.769-1161_769-1150dupCACACACACACA	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACTL6B_chr7_100638097_100661448	100654421	C C	CCAAAGTT others(5): Show CCAAAGTTGACCA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	360	0.0028	12	c.369 others(27): Show c.369+586_369+597dupTGGTCAACTTTG	ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding	4/13			chr7	TogoVar
ACTL8_chr1_17750333_17832063	17802424	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03195.hp1 NA19240.hp2 HG02630.hp2 HG03195.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0005t0001 a0001c0001t0006 a0001c0005t0001	a0001c0001t0006g0019 a0001c0005t0001g0304 a0001c0005t0001g0361 a0001c0001t0006g0019 a0001c0005t0001g0304 a0001c0005t0001g0361	3	366	0.0082	12	c.-24 others(31): Show c.-24-20544_-24-20533dupGTGTGTGTGTGT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL9_chr19_8692400_8703795	8694853	A A	AAGAGAGA others(5): Show AAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG01109.hp2 others(20): Show HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01515.hp2 HG01975.hp1 HG02083.hp2 HG02132.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG03017.hp2 HG03139.hp1 HG03490.hp1 HG03710.hp2 NA18959.hp1 NA18990.hp1 NA18999.hp2 NA19002.hp1 NA19012.hp1 NA19043.hp1 NA19078.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001 a0004c0005t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0002t0003g0000 others(2): Show a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0002t0003g0000 a0003c0003t0001g0000 a0004c0005t0001g0000	23	356	0.0646	12	c.25 others(23): Show c.2597_*2598insCTCTCTCTCTCT	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		2546		chr19	TogoVar
ACTL9_chr19_8692400_8703795	8694868	A A	AGAGAGAG others(5): Show AGAGAGAGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	356	0.0028	12	c.25 others(23): Show c.2582_*2583insCCTCTCTCTCTC	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		2531		chr19	TogoVar
ACTL9_chr19_8692400_8703795	8703755	G G	GACCAGCC others(5): Show GACCAGCCTGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	356	0.0028	12	c.-50 others(23): Show c.-5055_-5054insGGTCAGGCTGGT	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		4961		chr19	TogoVar
ACTN1_chr14_68869128_68984302	68881955	T T	TTTTTTTT others(5): Show TTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(46): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01981.hp2 HG02004.hp1 HG02056.hp2 HG02109.hp1 HG02129.hp1 HG02165.hp2 HG02280.hp2 HG02451.hp2 HG02602.hp2 HG02622.hp1 HG02735.hp1 HG02818.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03942.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18946.hp1 NA18956.hp2 NA18966.hp2 NA18975.hp1 NA19005.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0017 a0002c0006 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0004t0001 a0001c0017t0004 a0002c0006t0004 a0004c0008t0003	a0001c0001t0001g0185 a0001c0001t0001g0230 a0001c0001t0001g0241 others(46): Show a0001c0001t0001g0185 a0001c0001t0001g0230 a0001c0001t0001g0241 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0002g0011 a0001c0001t0002g0066 a0001c0002t0003g0129 a0001c0002t0003g0142 a0001c0002t0003g0150 a0001c0002t0003g0157 a0001c0002t0003g0158 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0168 a0001c0002t0003g0175 a0001c0002t0003g0180 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0191 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0203 a0001c0002t0003g0208 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0234 a0001c0002t0003g0236 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0267 a0001c0002t0003g0270 a0001c0002t0004g0014 a0001c0002t0004g0042 a0001c0002t0004g0063 a0001c0002t0004g0069 a0001c0002t0004g0089 a0001c0002t0004g0103 a0001c0002t0004g0108 a0001c0002t0004g0124 a0001c0002t0004g0127 a0001c0002t0008g0149 a0001c0004t0001g0145 a0001c0004t0001g0252 a0001c0017t0004g0044 a0002c0006t0004g0038 a0002c0006t0004g0111 a0004c0008t0003g0212	49	284	0.1725	12	c.195 others(29): Show c.1953+502_1953+503insTCAAAAAAAAAA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236709220	G G	GTGTGTGT others(5): Show GTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0051 a0001c0003t0002g0051	1	344	0.0029	12	c.127 others(29): Show c.127-8637_127-8636insGTGTGTATATAT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236709220	G G	GTGTGTGT others(5): Show GTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0126 a0001c0003t0006g0126	1	344	0.0029	12	c.127 others(29): Show c.127-8637_127-8636insGTGTGTGTATAT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236709249	T T	TATATATA others(5): Show TATATATATATAC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19089.hp2 NA18944.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0212 a0001c0002t0002g0229 a0001c0002t0002g0212 a0001c0002t0002g0229	2	344	0.0058	12	c.127 others(29): Show c.127-8602_127-8601insTATACATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236709255	T T	TATATACA others(5): Show TATATACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0302 a0001c0002t0002g0302	1	344	0.0029	12	c.127 others(29): Show c.127-8602_127-8601insTATACACACACA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236709255	T T	TATATATA others(5): Show TATATATACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA20805.hp2 HG03195.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0288 a0001c0001t0004g0102 a0001c0001t0001g0288 a0001c0001t0004g0102	2	344	0.0058	12	c.127 others(29): Show c.127-8602_127-8601insTATATACACACA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236721015	G G	GGTTTTTT others(5): Show GGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01168.hp2 HG01169.hp2 others(10): Show HG01071.hp2 HG01168.hp2 HG01169.hp2 HG02083.hp1 HG02083.hp2 HG02148.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG04115.hp2 NA18940.hp2 NA19000.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0015 others(3): Show a0001c0001 a0001c0007 a0001c0015 a0001c0028 a0002c0005 a0002c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0007t0004 a0001c0015t0016 a0001c0028t0026 a0002c0005t0004 a0002c0020t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0003g0029 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0003g0029 a0001c0001t0003g0166 a0001c0001t0004g0028 a0001c0001t0004g0119 a0001c0007t0004g0085 a0001c0015t0016g0113 a0001c0015t0016g0115 a0001c0028t0026g0106 a0002c0005t0004g0008 a0002c0005t0004g0009 a0002c0020t0002g0007	13	344	0.0378	12	c.448 others(27): Show c.448+824_448+825insGTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18522.hp1 NA19240.hp2 HG03225.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0004 a0001c0002t0002 a0001c0004t0005 a0001c0001t0004 a0001c0002t0002 a0001c0004t0005	a0001c0001t0004g0178 a0001c0002t0002g0179 a0001c0004t0005g0199 a0001c0001t0004g0178 a0001c0002t0002g0179 a0001c0004t0005g0199	3	344	0.0087	12	c.876 others(25): Show c.876+83_876+84insTATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737298	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	344	0.0029	12	c.876 others(26): Show c.876+93_876+104dupATATATATATAT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar

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