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
ACSL5_chr10_112369116_112433376	112401835	TCTTTCTT others(5): Show TCTTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01358.hp2 others(14): Show HG00741.hp1 HG01081.hp1 HG01358.hp2 HG01433.hp2 HG01928.hp1 HG02004.hp1 HG02004.hp2 HG02080.hp1 HG02293.hp1 HG02683.hp1 HG03486.hp2 HG03688.hp2 NA18948.hp1 NA18966.hp1 NA18981.hp2 NA19054.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0003	a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0001g0206 others(14): Show a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0354 a0001c0001t0001g0358 a0001c0001t0002g0121 a0001c0001t0002g0161 a0001c0001t0004g0020 a0002c0002t0003g0043 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060	17	364	0.0467	-12	c.266 others(29): Show c.266-2672_266-2661delTCTTCCTTCCTT	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL6_chr5_131944973_132016658	131977874	AAGAGAGA others(5): Show AAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0120 a0001c0001t0026g0120	1	326	0.0031	-12	c.917 others(29): Show c.917-1165_917-1154delCTCTCTCTCTCT	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	9/20			chr5	TogoVar
ACSL6_chr5_131944973_132016658	131986973	CCACACAC others(5): Show CCACACACTCACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02965.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18970.hp2 NA18979.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0011 a0001c0001 a0001c0002 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0030 a0001c0001t0031 a0001c0002t0001 a0002c0011t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(110): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0230 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0060 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0096 a0001c0001t0002g0102 a0001c0001t0002g0121 a0001c0001t0002g0250 a0001c0001t0004g0041 a0001c0001t0006g0016 a0001c0001t0006g0066 a0001c0001t0006g0095 a0001c0001t0006g0269 a0001c0001t0009g0130 a0001c0001t0009g0267 a0001c0001t0009g0268 a0001c0001t0016g0059 a0001c0001t0017g0108 a0001c0001t0020g0071 a0001c0001t0022g0114 a0001c0001t0030g0134 a0001c0001t0031g0241 a0001c0002t0001g0093 a0001c0002t0001g0094 a0002c0011t0002g0107	138	326	0.4233	-12	c.832 others(27): Show c.832-131_832-120delTGTGAGTGTGTG	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	7/20			chr5	TogoVar
ACSM1_chr16_20618235_20702680	20622192	GGTGGGTG others(5): Show GGTGGGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02572.hp2 HG02886.hp2 others(3): Show HG02257.hp1 HG02572.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 others(3): Show a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031	6	318	0.0189	-12	c.12 others(23): Show c.1282_*1293delACACACACCCAC	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding		1042		chr16	TogoVar
ACSM1_chr16_20618235_20702680	20627824	ATCTCTCT others(5): Show ATCTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp1 HG01099.hp1 others(53): Show HG00099.hp2 HG00673.hp1 HG01099.hp1 HG01109.hp2 HG01943.hp2 HG01975.hp2 HG02040.hp2 HG02074.hp2 HG02145.hp1 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03710.hp2 HG03831.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18948.hp2 NA18954.hp1 NA18956.hp2 NA18967.hp1 NA18968.hp1 NA18978.hp2 NA18981.hp1 NA18988.hp1 NA18994.hp2 NA19005.hp2 NA19010.hp2 NA19054.hp1 NA19062.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19088.hp2 NA19091.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0007c0011 a0009c0015 a0001c0001 a0007c0011 a0009c0015	a0001c0001t0002 a0007c0011t0002 a0009c0015t0002 a0001c0001t0002 a0007c0011t0002 a0009c0015t0002	a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 others(53): Show a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0234 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0294 a0007c0011t0002g0229 a0009c0015t0002g0258	56	318	0.1761	-12	c.130 others(29): Show c.1300-520_1300-509delGAGAGAGAGAGA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	10/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20627869	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02602.hp1 others(2): Show HG02280.hp1 HG02451.hp1 HG02602.hp1 NA18973.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0053 a0001c0001t0002g0298 a0001c0002t0001g0024 others(2): Show a0001c0001t0002g0053 a0001c0001t0002g0298 a0001c0002t0001g0024 a0001c0002t0001g0066 a0001c0002t0001g0251	5	318	0.0157	-12	c.130 others(29): Show c.1300-565_1300-554delATATATATATAT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	10/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20635580	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00673.hp1 others(29): Show HG00280.hp1 HG00558.hp2 HG00673.hp1 HG01069.hp2 HG01123.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02148.hp1 HG02280.hp1 HG02300.hp1 HG02602.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02965.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG04199.hp1 NA18948.hp2 NA19062.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0005c0010	a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 a0001c0005t0001 a0005c0010t0002	a0001c0001t0002g0062 a0001c0001t0002g0100 a0001c0001t0002g0159 others(29): Show a0001c0001t0002g0062 a0001c0001t0002g0100 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0187 a0001c0001t0002g0210 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0037 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0066 a0001c0002t0001g0106 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0133 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0251 a0001c0002t0001g0255 a0001c0002t0006g0006 a0001c0005t0001g0095 a0005c0010t0002g0277	32	318	0.1006	-12	c.129 others(31): Show c.1299+1147_1299+1158delGAAAGAAAGAAA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	10/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20644538	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0293 a0001c0002t0001g0293	1	318	0.0031	-12	c.993 others(29): Show c.993-3966_993-3955delGTGTGTGTGTGT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	7/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20672485	TATATATA others(5): Show TATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	318	0.0031	-12	c.612 others(27): Show c.612-826_612-815delTTATATATATAT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20691751	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03471.hp2 HG03579.hp1 others(1): Show HG02486.hp1 HG03471.hp2 HG03579.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0203 others(1): Show a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0203 a0001c0005t0001g0226	4	318	0.0126	-12	c.-51 others(27): Show c.-51-524_-51-513delCACACACACACA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	1/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20697556	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG01167.hp1 others(5): Show HG00280.hp1 HG00408.hp1 HG01167.hp1 HG02451.hp1 HG02683.hp2 HG06807.hp2 NA18948.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0002g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 others(5): Show a0001c0001t0002g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0003t0001g0017	8	318	0.0252	-12	c.-52 others(25): Show c.-52+68_-52+79delGTGTGTGTGTGT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	1/13			chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20483569	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp2 HG03195.hp2 others(2): Show HG01891.hp2 HG02717.hp2 HG03195.hp2 NA18522.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0017 a0003c0003 others(1): Show a0001c0001 a0001c0017 a0003c0003 a0003c0010	a0001c0001t0001 a0001c0017t0001 a0003c0003t0002 others(1): Show a0001c0001t0001 a0001c0017t0001 a0003c0003t0002 a0003c0010t0001	a0001c0001t0001g0060 a0001c0017t0001g0064 a0001c0017t0001g0065 others(2): Show a0001c0001t0001g0060 a0001c0017t0001g0064 a0001c0017t0001g0065 a0003c0003t0002g0250 a0003c0010t0001g0161	5	436	0.0115	-12	c.162 others(29): Show c.1629+414_1629+425delAAAAAAAAAAAA	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20535485	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03927.hp1 HG03704.hp1 HG03927.hp1	a0003 a0003	a0003c0008 a0003c0025 a0003c0008 a0003c0025	a0003c0008t0003 a0003c0025t0003 a0003c0008t0003 a0003c0025t0003	a0003c0008t0003g0122 a0003c0025t0003g0121 a0003c0008t0003g0122 a0003c0025t0003g0121	2	388	0.0052	-12	c.17 others(23): Show c.1761_*1772delCACACACACACA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding		740		chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20536768	CCTTTCTC others(5): Show CCTTTCTCCCTCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0029 a0005c0016t0029	a0005c0016t0029g0324 a0005c0016t0029g0324	1	388	0.0026	-12	c.47 others(21): Show c.478_*489delAGAGGGAGAAAG	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	14/14	478		chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20566247	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03209.hp1 NA18939.hp2 others(3): Show HG02055.hp1 HG03209.hp1 NA18939.hp2 NA18947.hp2 NA18966.hp2 NA19088.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0004 a0003c0033 others(1): Show a0001c0001 a0001c0004 a0003c0033 a0006c0020	a0001c0001t0001 a0001c0001t0003 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0002 a0003c0033t0003 a0006c0020t0003	a0001c0001t0001g0211 a0001c0001t0003g0018 a0001c0004t0002g0128 others(2): Show a0001c0001t0001g0211 a0001c0001t0003g0018 a0001c0004t0002g0128 a0003c0033t0003g0174 a0006c0020t0003g0105	6	388	0.0155	-12	c.-8- others(27): Show c.-8-1406_-8-1395delTATATATATATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACSM3_chr16_20759014_20802581	20769478	CTAATTGT others(5): Show CTAATTGTTATTG	C C	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	356	0.0028	-12	c.-51 others(27): Show c.-51-505_-51-494delTAATTGTTATTG	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	1/13			chr16	TogoVar
ACSM4_chr12_7299072_7333719	7302720	AATGACCT others(5): Show AATGACCTTGGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	430	0.0023	-12	c.-16 others(23): Show c.-1611_-1600delATGACCTTGGAT	ACSM4	ENSG00000215009.6	transcript	ENST00000399422.5	protein_coding		1351		chr12	TogoVar
ACSM5_chr16_20404534_20446336	20421615	CTATATAT others(5): Show CTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02040.hp1 NA18955.hp1 others(5): Show HG02027.hp2 HG02040.hp1 NA18955.hp1 NA18963.hp1 NA18978.hp2 NA19003.hp1 NA19082.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0014	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0014c0019	a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 a0014c0019t0021	a0001c0001t0001g0015 a0001c0001t0001g0104 a0001c0001t0001g0105 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0002c0002t0001g0284 a0003c0003t0003g0103 a0014c0019t0021g0106	8	434	0.0184	-12	c.767 others(27): Show c.767+245_767+256delTATATATATATA	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20421648	TATATATA others(5): Show TATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02615.hp1 others(1): Show HG01884.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp1	a0007 a0008 a0007 a0008	a0007c0009 a0007c0024 a0008c0008 a0007c0009 a0007c0024 a0008c0008	a0007c0009t0006 a0007c0024t0006 a0008c0008t0006 a0007c0009t0006 a0007c0024t0006 a0008c0008t0006	a0007c0009t0006g0041 a0007c0024t0006g0041 a0008c0008t0006g0349 others(1): Show a0007c0009t0006g0041 a0007c0024t0006g0041 a0008c0008t0006g0349 a0008c0008t0006g0350	4	434	0.0092	-12	c.767 others(27): Show c.767+249_767+260delTATATATACACA	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20430200	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0295 a0001c0001t0013g0295	1	434	0.0023	-12	c.112 others(29): Show c.1125+424_1125+435delACACACACACAC	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20432847	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_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.130 others(31): Show c.1308+1541_1308+1552delTTTTTTTTTTTT	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20443452	TTGAATGA others(5): Show TTGAATGAATGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02717.hp1 HG03942.hp2 others(1): Show HG02486.hp1 HG02717.hp1 HG03942.hp2 NA18522.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0004 a0006c0006t0008 a0002c0002t0004 a0006c0006t0008	a0002c0002t0004g0075 a0002c0002t0004g0089 a0002c0002t0004g0172 others(1): Show a0002c0002t0004g0075 a0002c0002t0004g0089 a0002c0002t0004g0172 a0006c0006t0008g0323	4	434	0.0092	-12	c.30 others(23): Show c.3026_*3037delTGAATGAATGAA	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding		2117		chr16	TogoVar
ACSM6_chr10_95189238_95233929	95203857	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0041 a0007c0009t0001g0041	1	314	0.0032	-12	c.403 others(29): Show c.403+1676_403+1687delAAAAAAAAAAAA	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSM6_chr10_95189238_95233929	95208933	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	314	0.0032	-12	c.611 others(29): Show c.611+1534_611+1545delAAAAAAAAAAAA	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSS1_chr20_25001237_25063139	25059305	AGGGCTTG others(5): Show AGGGCTTGCAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01074.hp2 HG01168.hp1 others(13): Show HG00639.hp2 HG01074.hp2 HG01168.hp1 HG01192.hp2 HG02083.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03927.hp1 HG03927.hp2 HG06807.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0003t0003 a0002c0004t0002 a0002c0004t0008	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0099 others(13): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0145 a0001c0001t0004g0098 a0001c0001t0004g0144 a0001c0001t0005g0111 a0001c0003t0003g0086 a0001c0003t0003g0106 a0002c0004t0002g0101 a0002c0004t0002g0105 a0002c0004t0002g0108 a0002c0004t0002g0109 a0002c0004t0002g0112 a0002c0004t0008g0107	16	244	0.0656	-12	c.-12 others(23): Show c.-1215_-1204delCTCTGCAAGCCC	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding		1167		chr20	TogoVar
ACSS2_chr20_34871612_34932959	34902711	TTTAATTA others(5): Show TTTAATTAATTAA	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	312	0.0032	-12	c.375 others(31): Show c.375-10366_375-10355delAATTAATTAATT	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34919576	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	312	0.0032	-12	c.972 others(25): Show c.972+37_972+48delGTGTGTGTGTGT	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS3_chr12_81073079_81266210	81107503	AATATATA others(5): Show AATATATACATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02155.hp1 HG01496.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0250 a0001c0002t0002g0001 a0001c0001t0003g0250 a0001c0002t0002g0001	2	290	0.0069	-12	c.312 others(29): Show c.312-2049_312-2038delCATATATATATA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81107511	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01361.hp1 others(1): Show HG00099.hp1 HG00323.hp2 HG01361.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0015 a0001c0001 a0001c0005 a0002c0015	a0001c0001t0001 a0001c0005t0005 a0002c0015t0003 a0001c0001t0001 a0001c0005t0005 a0002c0015t0003	a0001c0001t0001g0226 a0001c0005t0005g0222 a0001c0005t0005g0223 others(1): Show a0001c0001t0001g0226 a0001c0005t0005g0222 a0001c0005t0005g0223 a0002c0015t0003g0041	4	290	0.0138	-12	c.312 others(29): Show c.312-2011_312-2000delTATATATATATA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81137321	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01168.hp1 others(4): Show HG00099.hp1 HG00323.hp2 HG01168.hp1 HG01361.hp1 HG02683.hp1 HG03492.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0005t0005 a0001c0001t0001 a0001c0002t0002 a0001c0005t0005	a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 others(4): Show a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0002t0002g0036 a0001c0002t0002g0227 a0001c0005t0005g0222 a0001c0005t0005g0223	7	290	0.0241	-12	c.646 others(29): Show c.646-1778_646-1767delACACACACACAC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213957	CTCTTTCT others(5): Show CTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03209.hp1 HG03516.hp1 HG02976.hp1 HG03209.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0003 a0001c0005t0007g0011 a0001c0005t0007g0012 a0001c0005t0007g0003 a0001c0005t0007g0011 a0001c0005t0007g0012	3	290	0.0103	-12	c.135 others(31): Show c.1355-2905_1355-2894delTTTCTTTCTTTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTA1_chr1_229426245_229439094	229432496	CGGCGGGG others(5): Show CGGCGGGGGCGGG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	450	0.0022	-12	c.454 others(25): Show c.454+48_454+59delCCCGCCCCCGCC	ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding	3/6			chr1	TogoVar
ACTA1_chr1_229426245_229439094	229435458	GTCCCTCT others(5): Show GTCCCTCTCTCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG02040.hp2 HG02055.hp2 others(2): Show HG01516.hp2 HG02040.hp2 HG02055.hp2 HG02622.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0002 a0001c0001t0001g0006	5	450	0.0111	-12	c.-14 others(23): Show c.-1479_-1468delGAGAGAGAGGGA	ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding		1365		chr1	TogoVar
ACTA1_chr1_229426245_229439094	229435461	CCTCTCTC others(5): Show CCTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01515.hp2 HG01884.hp1 others(10): Show HG01496.hp1 HG01515.hp2 HG01884.hp1 HG02056.hp1 HG02056.hp2 HG02145.hp1 HG02647.hp1 HG02809.hp1 HG03130.hp1 HG03130.hp2 NA18957.hp1 NA18968.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0020 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0002g0001	13	450	0.0289	-12	c.-14 others(23): Show c.-1482_-1471delAGAGAGAGAGAG	ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding		1368		chr1	TogoVar
ACTC1_chr15_34785230_34800549	34791307	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	2	496	0.0040	-12	c.809 others(25): Show c.809-24_809-13delTGTGTGTGTGTG	ACTC1	ENSG00000159251.9	transcript	ENST00000290378.6	protein_coding	5/6			chr15	TogoVar
ACTC1_chr15_34785230_34800549	34799223	GAATCTGC others(5): Show GAATCTGCATTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	496	0.0020	-12	c.-37 others(23): Show c.-3752_-3741delAAAATGCAGATT	ACTC1	ENSG00000159251.9	transcript	ENST00000290378.6	protein_coding		3675		chr15	TogoVar
ACTG2_chr2_73888008_73924865	73901532	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0269 a0001c0002t0002g0269	1	416	0.0024	-12	c.126 others(27): Show c.126+133_126+144delGTGTGTGTGTGT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904769	GTGTGTGT others(5): Show GTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	416	0.0024	-12	c.255 others(29): Show c.255+2283_255+2294delGTGTGTGTATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTL6A_chr3_179557926_179593407	179559701	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	380	0.0026	-12	c.-33 others(23): Show c.-3391_-3380delAAAAAAAAAAAA	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding		3224		chr3	TogoVar
ACTL6A_chr3_179557926_179593407	179571419	TCAAAAAA others(5): Show TCAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	380	0.0026	-12	c.277 others(29): Show c.277+1191_277+1202delCAAAAAAAAAAA	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACTL6A_chr3_179557926_179593407	179579455	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01891.hp1 HG03225.hp1 others(1): Show HG01255.hp1 HG01891.hp1 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0073 a0001c0001t0001g0020 a0001c0001t0001g0073	4	380	0.0105	-12	c.769 others(29): Show c.769-1161_769-1150delCACACACACACA	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACTL6B_chr7_100638097_100661448	100652999	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	360	0.0028	-12	c.369 others(29): Show c.369+2008_369+2019delTTTTTTTTTTTT	ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding	4/13			chr7	TogoVar
ACTL6B_chr7_100638097_100661448	100654432	CATAATAA others(5): Show CATAATAATAATA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01099.hp2 HG01192.hp2 others(43): Show HG00323.hp2 HG01099.hp2 HG01192.hp2 HG01361.hp2 HG01884.hp1 HG01928.hp1 HG01952.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02451.hp2 HG02523.hp1 HG02683.hp2 HG02735.hp2 HG02886.hp1 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp2 HG04204.hp2 NA18941.hp1 NA18944.hp1 NA18955.hp1 NA18962.hp2 NA18974.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA19005.hp1 NA19054.hp1 NA19059.hp2 NA19066.hp2 NA19074.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0024 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0003g0045 a0001c0002t0001g0020 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0252 a0002c0007t0001g0251	46	360	0.1278	-12	c.369 others(27): Show c.369+575_369+586delTATTATTATTAT	ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding	4/13			chr7	TogoVar
ACTL7A_chr9_108857266_108868756	108858823	GACACACA others(5): Show GACACACACACAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG01934.hp2 others(6): Show HG01884.hp1 HG01891.hp1 HG01934.hp2 HG02723.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG03710.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0000 a0002c0004t0001g0000 a0001c0001t0001g0000 a0002c0004t0001g0000	9	482	0.0187	-12	c.-34 others(23): Show c.-3499_-3488delACACACACACAT	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding		3442		chr9	TogoVar
ACTL7B_chr9_108849588_108860986	108858823	GACACACA others(5): Show GACACACACACAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02723.hp1 others(5): Show HG01884.hp1 HG01891.hp1 HG02723.hp1 HG02738.hp1 HG02896.hp1 HG02897.hp2 HG03710.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	8	470	0.0170	-12	c.-29 others(23): Show c.-2905_-2894delATGTGTGTGTGT	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding		2838		chr9	TogoVar
ACTL8_chr1_17750333_17832063	17776969	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0362	1	366	0.0027	-12	c.-25 others(31): Show c.-25+21490_-25+21501delTTTTTTTTTTTT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17783340	TTTTTTTG others(5): Show TTTTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02280.hp1 HG02486.hp2 others(5): Show HG00642.hp2 HG02280.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0008t0001	a0001c0001t0001g0335 a0001c0003t0001g0346 a0001c0003t0001g0347 others(5): Show a0001c0001t0001g0335 a0001c0003t0001g0346 a0001c0003t0001g0347 a0001c0003t0001g0353 a0001c0003t0003g0354 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0008t0001g0352	8	366	0.0219	-12	c.-25 others(31): Show c.-25+27843_-25+27854delGTTTTGTTTTTT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17805371	CTTTTTCT others(5): Show CTTTTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01169.hp2 HG01496.hp2 others(11): Show HG00642.hp2 HG01169.hp2 HG01496.hp2 HG02280.hp1 HG02572.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03516.hp1 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0003t0003 a0001c0008t0001 a0002c0004t0001 a0002c0004t0004	a0001c0001t0001g0085 a0001c0001t0001g0189 a0001c0001t0005g0327 others(11): Show a0001c0001t0001g0085 a0001c0001t0001g0189 a0001c0001t0005g0327 a0001c0003t0001g0110 a0001c0003t0001g0188 a0001c0003t0001g0346 a0001c0003t0001g0347 a0001c0003t0001g0353 a0001c0003t0003g0354 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0008t0001g0352 a0002c0004t0001g0052 a0002c0004t0004g0239	14	366	0.0383	-12	c.-24 others(31): Show c.-24-17608_-24-17597delCTTTTTTTTTTT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17805377	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19066.hp1 NA19066.hp2 NA18979.hp2 NA19066.hp1 NA19066.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0001 a0004c0013t0001 a0001c0001t0001 a0004c0013t0001	a0001c0001t0001g0146 a0001c0001t0001g0233 a0004c0013t0001g0163 a0001c0001t0001g0146 a0001c0001t0001g0233 a0004c0013t0001g0163	3	366	0.0082	-12	c.-24 others(31): Show c.-24-17593_-24-17582delTTTTTTTTTTTT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL9_chr19_8692400_8703795	8694853	AAGAGAGA others(5): Show AAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	356	0.0028	-12	c.25 others(23): Show c.2586_*2597delCTCTCTCTCTCT	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		2546		chr19	TogoVar

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