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
ABL2_chr1_179094330_179234677	179130726	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02976.hp1 HG02615.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0058 a0001c0001t0001 a0001c0004t0058	a0001c0001t0001g0144 a0001c0004t0058g0028 a0001c0001t0001g0144 a0001c0004t0058g0028	2	350	0.0057	-14	c.391 others(29): Show c.391+571_391+584delCACACACACACACA	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	3/11			chr1	TogoVar
ABL2_chr1_179094330_179234677	179229711	TCCCGCCC others(7): Show TCCCGCCCCCCGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00733.hp1 others(56): Show HG00438.hp1 HG00438.hp2 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01261.hp2 HG01891.hp1 HG01943.hp1 HG01993.hp2 HG02055.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02895.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG04115.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18952.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18975.hp1 NA18980.hp2 NA18981.hp1 NA18985.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA19007.hp1 NA19056.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19082.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0004 a0002c0005 others(2): Show a0001c0001 a0001c0004 a0002c0005 a0003c0006 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0037 a0001c0001t0038 a0001c0001t0077 a0001c0001t0078 a0001c0001t0082 a0001c0001t0085 a0001c0001t0086 a0001c0001t0096 a0001c0001t0097 a0001c0004t0024 a0002c0005t0022 a0003c0006t0001 a0006c0011t0084	a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0159 others(56): Show a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0241 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0168 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0230 a0001c0001t0020g0155 a0001c0001t0020g0196 a0001c0001t0020g0197 a0001c0001t0020g0235 a0001c0001t0037g0183 a0001c0001t0038g0216 a0001c0001t0038g0221 a0001c0001t0077g0142 a0001c0001t0078g0143 a0001c0001t0082g0210 a0001c0001t0085g0234 a0001c0001t0086g0192 a0001c0001t0096g0306 a0001c0001t0097g0304 a0001c0004t0024g0023 a0001c0004t0024g0024 a0001c0004t0024g0025 a0002c0005t0022g0253 a0002c0005t0022g0275 a0002c0005t0022g0276 a0002c0005t0022g0277 a0003c0006t0001g0151 a0003c0006t0001g0187 a0003c0006t0001g0205 a0003c0006t0001g0209 a0006c0011t0084g0156	59	350	0.1686	-14	c.-32 others(23): Show c.-328_-315delGGGCGGGGGGCGGG	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding		35		chr1	TogoVar
ABLIM1_chr10_114426112_114663275	114536227	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(52): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00733.hp1 HG01074.hp1 HG01175.hp2 HG01255.hp2 HG01433.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp1 HG02148.hp2 HG02258.hp1 HG02300.hp1 HG02523.hp1 HG02698.hp1 HG02723.hp1 HG03017.hp1 HG03225.hp1 HG03491.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18944.hp1 NA18948.hp2 NA18952.hp1 NA18966.hp2 NA18969.hp1 NA18973.hp1 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA19000.hp1 NA19011.hp1 NA19060.hp1 NA19065.hp2 NA19068.hp2 NA19079.hp1 NA19082.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0015 others(1): Show a0001c0003 a0001c0010 a0001c0015 a0001c0017	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(37): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0009 a0001c0003t0013 a0001c0003t0014 a0001c0003t0015 a0001c0003t0017 a0001c0003t0029 a0001c0003t0031 a0001c0003t0032 a0001c0003t0035 a0001c0003t0040 a0001c0003t0043 a0001c0003t0046 a0001c0003t0053 a0001c0003t0055 a0001c0003t0058 a0001c0003t0068 a0001c0003t0101 a0001c0003t0102 a0001c0003t0115 a0001c0003t0117 a0001c0003t0124 a0001c0003t0128 a0001c0003t0129 a0001c0003t0131 a0001c0003t0134 a0001c0003t0136 a0001c0003t0140 a0001c0003t0143 a0001c0003t0147 a0001c0003t0150 a0001c0003t0153 a0001c0003t0161 a0001c0010t0025 a0001c0015t0054 a0001c0017t0011	a0001c0003t0001g0080 a0001c0003t0001g0103 a0001c0003t0001g0168 others(52): Show a0001c0003t0001g0080 a0001c0003t0001g0103 a0001c0003t0001g0168 a0001c0003t0001g0198 a0001c0003t0001g0207 a0001c0003t0002g0166 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0211 a0001c0003t0002g0230 a0001c0003t0003g0065 a0001c0003t0003g0076 a0001c0003t0004g0226 a0001c0003t0007g0107 a0001c0003t0009g0092 a0001c0003t0013g0178 a0001c0003t0014g0044 a0001c0003t0014g0072 a0001c0003t0014g0200 a0001c0003t0015g0199 a0001c0003t0017g0053 a0001c0003t0017g0055 a0001c0003t0029g0210 a0001c0003t0031g0066 a0001c0003t0031g0105 a0001c0003t0032g0217 a0001c0003t0035g0023 a0001c0003t0040g0213 a0001c0003t0043g0078 a0001c0003t0043g0235 a0001c0003t0046g0181 a0001c0003t0053g0042 a0001c0003t0055g0025 a0001c0003t0058g0214 a0001c0003t0068g0224 a0001c0003t0101g0194 a0001c0003t0102g0027 a0001c0003t0115g0083 a0001c0003t0117g0137 a0001c0003t0124g0032 a0001c0003t0128g0048 a0001c0003t0129g0218 a0001c0003t0131g0172 a0001c0003t0134g0098 a0001c0003t0136g0045 a0001c0003t0140g0209 a0001c0003t0143g0182 a0001c0003t0147g0022 a0001c0003t0150g0220 a0001c0003t0153g0135 a0001c0003t0161g0256 a0001c0010t0025g0037 a0001c0010t0025g0099 a0001c0015t0054g0060 a0001c0017t0011g0125	55	256	0.2148	-14	c.894 others(31): Show c.894+8764_894+8777delAAAAAAAAAAAAAA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	6/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583404	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02056.hp2 NA18612.hp1 HG02055.hp2 HG02056.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0021 a0001c0001 a0001c0003 a0001c0021	a0001c0001t0152 a0001c0003t0017 a0001c0021t0106 a0001c0001t0152 a0001c0003t0017 a0001c0021t0106	a0001c0001t0152g0050 a0001c0003t0017g0055 a0001c0021t0106g0149 a0001c0001t0152g0050 a0001c0003t0017g0055 a0001c0021t0106g0149	3	256	0.0117	-14	c.380 others(31): Show c.380-7819_380-7806delGTGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583466	CACATATA others(7): Show CACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02970.hp1 HG01978.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0051 a0001c0004t0011 a0001c0002t0051 a0001c0004t0011	a0001c0002t0051g0240 a0001c0004t0011g0011 a0001c0002t0051g0240 a0001c0004t0011g0011	2	256	0.0078	-14	c.380 others(31): Show c.380-7881_380-7868delATATATATATATGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114601049	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG00738.hp2 others(40): Show HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02074.hp2 HG02257.hp1 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03579.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18944.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18983.hp2 NA18989.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA19011.hp2 NA19079.hp2 NA19082.hp1 NA19090.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0010 a0001c0022 a0002c0005	a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 others(34): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0023 a0001c0001t0037 a0001c0001t0047 a0001c0001t0083 a0001c0001t0100 a0001c0001t0141 a0001c0001t0151 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0020 a0001c0002t0022 a0001c0002t0026 a0001c0002t0029 a0001c0002t0036 a0001c0002t0040 a0001c0002t0052 a0001c0002t0060 a0001c0002t0062 a0001c0002t0065 a0001c0002t0066 a0001c0002t0067 a0001c0002t0074 a0001c0002t0081 a0001c0002t0110 a0001c0002t0135 a0001c0002t0155 a0001c0007t0019 a0001c0010t0025 a0001c0022t0160 a0002c0005t0092	a0001c0001t0004g0100 a0001c0001t0005g0075 a0001c0001t0010g0036 others(40): Show a0001c0001t0004g0100 a0001c0001t0005g0075 a0001c0001t0010g0036 a0001c0001t0010g0097 a0001c0001t0010g0222 a0001c0001t0023g0006 a0001c0001t0037g0189 a0001c0001t0047g0162 a0001c0001t0083g0017 a0001c0001t0100g0246 a0001c0001t0141g0093 a0001c0001t0151g0095 a0001c0002t0001g0077 a0001c0002t0001g0173 a0001c0002t0002g0203 a0001c0002t0002g0239 a0001c0002t0004g0057 a0001c0002t0005g0184 a0001c0002t0006g0056 a0001c0002t0008g0117 a0001c0002t0020g0154 a0001c0002t0022g0202 a0001c0002t0026g0112 a0001c0002t0029g0043 a0001c0002t0036g0201 a0001c0002t0040g0109 a0001c0002t0052g0223 a0001c0002t0060g0049 a0001c0002t0062g0153 a0001c0002t0065g0205 a0001c0002t0066g0170 a0001c0002t0067g0084 a0001c0002t0074g0013 a0001c0002t0081g0208 a0001c0002t0110g0157 a0001c0002t0135g0236 a0001c0002t0155g0159 a0001c0007t0019g0058 a0001c0007t0019g0132 a0001c0010t0025g0037 a0001c0010t0025g0099 a0001c0022t0160g0152 a0002c0005t0092g0156	43	256	0.1680	-14	c.379 others(29): Show c.379+764_379+777delGTGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114637035	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp1 HG02647.hp1 others(8): Show HG01109.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 NA18522.hp1 NA19030.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0001c0022 others(3): Show a0001c0001 a0001c0002 a0001c0022 a0002c0005 a0002c0009 a0010c0014	a0001c0001t0027 a0001c0002t0020 a0001c0002t0033 others(8): Show a0001c0001t0027 a0001c0002t0020 a0001c0002t0033 a0001c0002t0034 a0001c0002t0037 a0001c0002t0099 a0001c0002t0110 a0001c0022t0160 a0002c0005t0092 a0002c0009t0090 a0010c0014t0084	a0001c0001t0027g0158 a0001c0002t0020g0154 a0001c0002t0033g0012 others(8): Show a0001c0001t0027g0158 a0001c0002t0020g0154 a0001c0002t0033g0012 a0001c0002t0034g0160 a0001c0002t0037g0009 a0001c0002t0099g0155 a0001c0002t0110g0157 a0001c0022t0160g0152 a0002c0005t0092g0156 a0002c0009t0090g0010 a0010c0014t0084g0148	11	256	0.0430	-14	c.244 others(33): Show c.244+20908_244+20921delTTTTTTTTTTTTTT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114638622	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02622.hp1 others(5): Show HG02109.hp1 HG02109.hp2 HG02622.hp1 HG02717.hp1 HG02818.hp2 HG03139.hp2 HG03209.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0022 others(1): Show a0001c0001 a0001c0002 a0001c0022 a0002c0005	a0001c0001t0047 a0001c0001t0122 a0001c0001t0156 others(5): Show a0001c0001t0047 a0001c0001t0122 a0001c0001t0156 a0001c0002t0021 a0001c0002t0026 a0001c0002t0096 a0001c0022t0160 a0002c0005t0091	a0001c0001t0047g0162 a0001c0001t0122g0141 a0001c0001t0156g0110 others(5): Show a0001c0001t0047g0162 a0001c0001t0122g0141 a0001c0001t0156g0110 a0001c0002t0021g0143 a0001c0002t0026g0112 a0001c0002t0096g0142 a0001c0022t0160g0152 a0002c0005t0091g0111	8	256	0.0313	-14	c.244 others(33): Show c.244+19321_244+19334delGTGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	7994080	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18522.hp2 HG02280.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0231 a0001c0001t0012g0253 a0001c0001t0002g0231 a0001c0001t0012g0253	2	322	0.0062	-14	c.161 others(33): Show c.1619-1167_1619-1154delAAAAAAAAAAAAAA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	16/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8145745	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp2 HG03209.hp2 others(2): Show HG01243.hp2 HG02723.hp2 HG03209.hp2 HG03453.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0016 a0001c0001t0018 others(1): Show a0001c0001t0007 a0001c0001t0016 a0001c0001t0018 a0001c0002t0003	a0001c0001t0007g0112 a0001c0001t0007g0132 a0001c0001t0016g0111 others(2): Show a0001c0001t0007g0112 a0001c0001t0007g0132 a0001c0001t0016g0111 a0001c0001t0018g0001 a0001c0002t0003g0026	5	322	0.0155	-14	c.10+ others(31): Show c.10+12921_10+12934delGTGTGTGTGTGTGT	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	1/20			chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149208382	CTCTCAAT others(7): Show CTCTCAATTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp1 HG02976.hp2 others(1): Show HG02258.hp1 HG02976.hp1 HG02976.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0003 a0001c0003t0004 a0001c0006t0011 a0001c0001t0003 a0001c0003t0004 a0001c0006t0011	a0001c0001t0003g0232 a0001c0003t0004g0122 a0001c0003t0004g0123 others(1): Show a0001c0001t0003g0232 a0001c0003t0004g0122 a0001c0003t0004g0123 a0001c0006t0011g0072	4	258	0.0155	-14	c.575 others(31): Show c.575+1253_575+1266delAATTTCTCTTTCTC	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149225970	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0244 a0001c0001t0006g0244	1	258	0.0039	-14	c.758 others(31): Show c.758-4677_758-4664delGTGTGTGTGTGTAT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149225982	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18986.hp1 NA19070.hp1 HG04228.hp1 NA18986.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0060 a0001c0001t0001g0143 a0001c0001t0002g0242 a0001c0001t0001g0060 a0001c0001t0001g0143 a0001c0001t0002g0242	3	258	0.0116	-14	c.758 others(31): Show c.758-4635_758-4622delATATATATATATAT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABRAXAS1_chr4_83454517_83490100	83456467	GCAAATTC others(7): Show GCAAATTCCAGATGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03098.hp2 HG03195.hp2 others(1): Show HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0009 a0001c0005t0009 a0001c0001t0009 a0001c0005t0009	a0001c0001t0009g0209 a0001c0005t0009g0049 a0001c0005t0009g0208 a0001c0001t0009g0209 a0001c0005t0009g0049 a0001c0005t0009g0208	4	356	0.0112	-14	c.59 others(25): Show c.5988_*6001delACATCTGGAATTTG	ABRAXAS1	ENSG00000163322.14	transcript	ENST00000321945.12	protein_coding		3049		chr4	TogoVar
ABRAXAS1_chr4_83454517_83490100	83471191	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	356	0.0028	-14	c.283 others(29): Show c.283-809_283-796delAAAAAAAAAAAAAA	ABRAXAS1	ENSG00000163322.14	transcript	ENST00000321945.12	protein_coding	4/8			chr4	TogoVar
ABRA_chr8_106754483_106775244	106771376	ATCTAAGG others(7): Show ATCTAAGGACAGAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0004	1	440	0.0023	-14	c.-12 others(25): Show c.-1200_-1187delATTCTGTCCTTAGA	ABRA	ENSG00000174429.4	transcript	ENST00000311955.4	protein_coding		1133		chr8	TogoVar
ABR_chr17_998519_1184981	1057305	GGTTTGTG others(7): Show GGTTTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG01258.hp2 others(13): Show HG00597.hp2 HG00673.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG02055.hp2 HG02083.hp2 HG02132.hp1 HG02886.hp2 HG02976.hp1 HG03669.hp2 NA18522.hp1 NA18522.hp2 NA18983.hp2 NA19085.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0014 others(1): Show a0001c0001 a0001c0003 a0001c0014 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0029 a0001c0001t0031 a0001c0001t0073 a0001c0001t0084 a0001c0003t0052 a0001c0014t0010 a0005c0008t0020	a0001c0001t0001g0146 a0001c0001t0001g0201 a0001c0001t0002g0190 others(13): Show a0001c0001t0001g0146 a0001c0001t0001g0201 a0001c0001t0002g0190 a0001c0001t0002g0209 a0001c0001t0003g0150 a0001c0001t0003g0192 a0001c0001t0005g0282 a0001c0001t0005g0309 a0001c0001t0008g0026 a0001c0001t0029g0177 a0001c0001t0031g0240 a0001c0001t0073g0245 a0001c0001t0084g0330 a0001c0003t0052g0220 a0001c0014t0010g0307 a0005c0008t0020g0132	16	337	0.0475	-14	c.138 others(31): Show c.1382-217_1382-204delACACACACACAAAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	12/22			chr17	TogoVar
ABR_chr17_998519_1184981	1057308	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0070 a0001c0002t0053g0070	1	337	0.0030	-14	c.138 others(31): Show c.1382-220_1382-207delCACACACACACACA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	12/22			chr17	TogoVar
ABR_chr17_998519_1184981	1076715	GGGGGGGG others(7): Show GGGGGGGGTGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0241 a0001c0001t0031g0241	1	337	0.0030	-14	c.700 others(31): Show c.700+2601_700+2614delACCCCCACCCCCCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	6/22			chr17	TogoVar
ABR_chr17_998519_1184981	1079788	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG03041.hp2 HG04228.hp2 HG01517.hp1 HG03041.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0070 a0001c0003t0016 a0001c0001t0001 a0001c0001t0070 a0001c0003t0016	a0001c0001t0001g0219 a0001c0001t0070g0213 a0001c0003t0016g0218 a0001c0001t0001g0219 a0001c0001t0070g0213 a0001c0003t0016g0218	3	337	0.0089	-14	c.640 others(29): Show c.640-412_640-399delTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	5/22			chr17	TogoVar
ABTB1_chr3_127667952_127685926	127668101	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 NA18968.hp1 HG01123.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0002t0001g0004 a0001c0001t0001g0002 a0001c0002t0001g0004	2	440	0.0046	-14	c.-49 others(25): Show c.-4924_-4911delGTGTGTGTGTGTGT	ABTB1	ENSG00000114626.18	transcript	ENST00000232744.13	protein_coding		4850		chr3	TogoVar
ABTB2_chr11_34145987_34363010	34351250	TAAACTCT others(7): Show TAAACTCTTCTGAGC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(70): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG01255.hp2 HG01358.hp1 HG01433.hp2 HG02080.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18952.hp2 NA18962.hp2 NA18966.hp2 NA18970.hp1 NA18972.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19067.hp1 NA19079.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0005 a0002c0002 others(11): Show a0001c0001 a0001c0005 a0002c0002 a0002c0013 a0002c0015 a0002c0016 a0002c0017 a0002c0019 a0003c0003 a0003c0008 a0004c0006 a0004c0014 a0005c0011 a0006c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0005t0022 a0002c0002t0002 a0002c0002t0011 a0002c0002t0013 a0002c0002t0025 a0002c0002t0026 a0002c0013t0002 a0002c0015t0024 a0002c0016t0002 a0002c0017t0028 a0002c0019t0027 a0003c0003t0010 a0003c0008t0014 a0004c0006t0002 a0004c0006t0012 a0004c0014t0002 a0005c0011t0001 a0006c0018t0002	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0057 others(70): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0003g0186 a0001c0001t0006g0020 a0001c0001t0019g0021 a0001c0001t0020g0160 a0001c0001t0021g0187 a0001c0001t0023g0188 a0001c0005t0022g0159 a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0236 a0002c0002t0002g0242 a0002c0002t0011g0192 a0002c0002t0011g0241 a0002c0002t0013g0245 a0002c0002t0013g0246 a0002c0002t0025g0218 a0002c0002t0026g0243 a0002c0013t0002g0225 a0002c0015t0024g0239 a0002c0016t0002g0197 a0002c0017t0028g0222 a0002c0019t0027g0228 a0003c0003t0010g0161 a0003c0008t0014g0022 a0004c0006t0002g0229 a0004c0006t0012g0237 a0004c0006t0012g0244 a0004c0014t0002g0240 a0005c0011t0001g0064 a0006c0018t0002g0190	73	246	0.2968	-14	c.883 others(31): Show c.883+5437_883+5450delGCTCAGAAGAGTTT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34360525	AATATATA others(7): Show AATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03209.hp1 HG03486.hp2 HG02109.hp1 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0005 a0001c0009t0005 a0001c0001t0001 a0001c0001t0005 a0001c0009t0005	a0001c0001t0001g0070 a0001c0001t0005g0071 a0001c0009t0005g0072 a0001c0001t0001g0070 a0001c0001t0005g0071 a0001c0009t0005g0072	3	246	0.0122	-14	c.-29 others(25): Show c.-2956_-2943delATATATATATATAT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding		2516		chr11	TogoVar
ABTB3_chr12_107313434_107664642	107335286	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp1 HG02922.hp2 HG01243.hp2 HG02630.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0028 a0001c0001t0001 a0001c0001t0004 a0001c0001t0028	a0001c0001t0001g0055 a0001c0001t0004g0057 a0001c0001t0028g0054 a0001c0001t0001g0055 a0001c0001t0004g0057 a0001c0001t0028g0054	3	186	0.0161	-14	c.113 others(35): Show c.1135+15238_1135+15251delAAAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107415246	ACCACTGA others(7): Show ACCACTGACTCAGAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp1 HG03453.hp1 HG02559.hp1 HG02809.hp1 HG03453.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0005 a0001c0001 a0003c0004 a0004c0005	a0001c0001t0002 a0003c0004t0011 a0004c0005t0008 a0001c0001t0002 a0003c0004t0011 a0004c0005t0008	a0001c0001t0002g0152 a0003c0004t0011g0155 a0004c0005t0008g0053 a0001c0001t0002g0152 a0003c0004t0011g0155 a0004c0005t0008g0053	3	186	0.0161	-14	c.113 others(35): Show c.1135+95186_1135+95199delCCACTGACTCAGAC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107445863	TCCCTCTC others(7): Show TCCCTCTCCCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03453.hp2 NA20300.hp1 HG02559.hp2 HG03453.hp2 NA20300.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0016 a0006c0032 a0001c0001 a0005c0016 a0006c0032	a0001c0001t0002 a0005c0016t0003 a0006c0032t0008 a0001c0001t0002 a0005c0016t0003 a0006c0032t0008	a0001c0001t0002g0157 a0005c0016t0003g0161 a0006c0032t0008g0160 a0001c0001t0002g0157 a0005c0016t0003g0161 a0006c0032t0008g0160	3	186	0.0161	-14	c.113 others(35): Show c.1136-74593_1136-74580delCTCTCCCCTCTCCC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107464206	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02809.hp2 others(6): Show HG02257.hp2 HG02559.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 NA18979.hp2 NA19030.hp1 NA19063.hp2 NA19090.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0018	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0018c0027	a0001c0001t0002 a0001c0001t0015 a0001c0001t0033 others(5): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0033 a0002c0002t0001 a0002c0002t0004 a0002c0002t0023 a0004c0005t0009 a0018c0027t0001	a0001c0001t0002g0042 a0001c0001t0002g0152 a0001c0001t0015g0156 others(6): Show a0001c0001t0002g0042 a0001c0001t0002g0152 a0001c0001t0015g0156 a0001c0001t0033g0077 a0002c0002t0001g0060 a0002c0002t0004g0061 a0002c0002t0023g0121 a0004c0005t0009g0107 a0018c0027t0001g0045	9	186	0.0484	-14	c.113 others(35): Show c.1136-56240_1136-56227delGTGTGTGTGTGTGT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107469952	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0022 a0003c0004t0001g0024 a0003c0004t0001g0022 a0003c0004t0001g0024	2	186	0.0108	-14	c.113 others(35): Show c.1136-50533_1136-50520delTTCTTTCTTTCTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107481883	GTCTCTCT others(7): Show GTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0002 a0001c0030t0002	a0001c0030t0002g0104 a0001c0030t0002g0104	1	186	0.0054	-14	c.113 others(35): Show c.1136-38572_1136-38559delCTCTCTCTCTCTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107608954	AATATAAA others(7): Show AATATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG02896.hp1 HG02717.hp1 HG02818.hp2 HG02896.hp1	a0003 a0004 a0013 a0003 a0004 a0013	a0003c0020 a0004c0005 a0013c0024 a0003c0020 a0004c0005 a0013c0024	a0003c0020t0001 a0004c0005t0009 a0013c0024t0001 a0003c0020t0001 a0004c0005t0009 a0013c0024t0001	a0003c0020t0001g0028 a0004c0005t0009g0103 a0013c0024t0001g0019 a0003c0020t0001g0028 a0004c0005t0009g0103 a0013c0024t0001g0019	3	186	0.0161	-14	c.164 others(33): Show c.1644-1232_1644-1219delTAAAATAAAATATA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107637786	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01361.hp2 HG01496.hp1 others(14): Show HG01243.hp2 HG01361.hp2 HG01496.hp1 HG02109.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG03130.hp1 HG03139.hp1 HG03492.hp2 HG03540.hp1 NA18906.hp1 NA20129.hp1 NA20752.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0006 a0008 a0016 a0017	a0001c0001 a0001c0011 a0001c0030 others(7): Show a0001c0001 a0001c0011 a0001c0030 a0003c0006 a0003c0008 a0004c0005 a0006c0014 a0008c0013 a0016c0019 a0017c0028	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(12): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0011t0004 a0001c0030t0002 a0003c0006t0002 a0003c0006t0005 a0003c0008t0011 a0004c0005t0008 a0004c0005t0013 a0004c0005t0032 a0006c0014t0037 a0008c0013t0008 a0016c0019t0008 a0017c0028t0004	a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0002g0152 others(14): Show a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0002g0152 a0001c0001t0004g0057 a0001c0001t0014g0154 a0001c0011t0004g0051 a0001c0030t0002g0104 a0003c0006t0002g0139 a0003c0006t0005g0144 a0003c0008t0011g0153 a0004c0005t0008g0053 a0004c0005t0013g0018 a0004c0005t0032g0091 a0006c0014t0037g0171 a0008c0013t0008g0073 a0016c0019t0008g0020 a0017c0028t0004g0044	17	186	0.0914	-14	c.273 others(33): Show c.2737+2431_2737+2444delTGTGTGTGTGTGTG	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107654815	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0174 a0002c0002t0007g0174	1	186	0.0054	-14	c.310 others(33): Show c.3106-2662_3106-2649delCACACACACACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAA1_chr3_38117715_38142127	38124683	TCACAAAC others(7): Show TCACAAACGCAGGTG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01361.hp2 HG01123.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	2	372	0.0054	-14	c.119 others(31): Show c.1199+868_1199+881delCACCTGCGTTTGTG	ACAA1	ENSG00000060971.19	transcript	ENST00000333167.13	protein_coding	11/11			chr3	TogoVar
ACACA_chr17_37079992_37411836	37119589	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01884.hp1 HG02683.hp2 others(4): Show HG01361.hp1 HG01884.hp1 HG02683.hp2 HG03704.hp2 HG04184.hp1 NA19064.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0003t0006	a0001c0001t0001g0180 a0001c0001t0006g0189 a0001c0001t0006g0207 others(4): Show a0001c0001t0001g0180 a0001c0001t0006g0189 a0001c0001t0006g0207 a0001c0002t0001g0245 a0001c0003t0006g0144 a0001c0003t0006g0195 a0001c0003t0006g0231	7	299	0.0234	-14	c.627 others(33): Show c.6274+1752_6274+1765delGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	50/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37173982	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA18969.hp1 HG01516.hp2 NA18969.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0014 a0001c0003t0002g0018 a0001c0003t0002g0014 a0001c0003t0002g0018	2	299	0.0067	-14	c.507 others(33): Show c.5079+5264_5079+5277delTATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174008	ATATATAT others(7): Show ATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	299	0.0033	-14	c.507 others(33): Show c.5079+5238_5079+5251delAATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37181900	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19240.hp1 HG02451.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0094 a0001c0001t0011g0105 a0001c0001t0011g0094 a0001c0001t0011g0105	2	299	0.0067	-14	c.477 others(31): Show c.4777-558_4777-545delTTTTTTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	39/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37202702	TATATATA others(7): Show TATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01358.hp2 HG01891.hp2 others(9): Show HG01109.hp1 HG01358.hp2 HG01891.hp2 HG02145.hp2 HG02280.hp2 HG02572.hp2 HG02647.hp2 HG02735.hp2 HG02886.hp2 HG03209.hp1 HG03540.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0005 a0001c0004t0021 others(1): Show a0001c0002t0002 a0001c0004t0005 a0001c0004t0021 a0001c0004t0033	a0001c0002t0002g0030 a0001c0004t0005g0044 a0001c0004t0005g0087 others(9): Show a0001c0002t0002g0030 a0001c0004t0005g0044 a0001c0004t0005g0087 a0001c0004t0005g0090 a0001c0004t0005g0118 a0001c0004t0005g0125 a0001c0004t0005g0137 a0001c0004t0005g0158 a0001c0004t0005g0190 a0001c0004t0005g0268 a0001c0004t0021g0023 a0001c0004t0033g0298	12	299	0.0401	-14	c.405 others(33): Show c.4057-2233_4057-2220delGTGTATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	33/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37202704	TATATATA others(7): Show TATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	299	0.0033	-14	c.405 others(33): Show c.4057-2235_4057-2222delGTGTGTATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	33/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260249	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0094 a0001c0001t0011g0094	1	299	0.0033	-14	c.133 others(31): Show c.1330-733_1330-720delATATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260284	ATATATAT others(7): Show ATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02809.hp2 HG03225.hp1 others(1): Show HG02145.hp1 HG02809.hp2 HG03225.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0001 a0001c0004t0005 a0001c0006t0005 a0001c0002t0001 a0001c0004t0005 a0001c0006t0005	a0001c0002t0001g0239 a0001c0004t0005g0117 a0001c0004t0005g0277 others(1): Show a0001c0002t0001g0239 a0001c0004t0005g0117 a0001c0004t0005g0277 a0001c0006t0005g0119	4	299	0.0134	-14	c.133 others(31): Show c.1330-768_1330-755delAATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260286	ATATATAT others(7): Show ATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0120 a0001c0004t0005g0120	1	299	0.0033	-14	c.133 others(31): Show c.1330-770_1330-757delAAAATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37268727	ATCTATCT others(7): Show ATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	299	0.0033	-14	c.111 others(33): Show c.1119+2010_1119+2023delGATAGATAGATAGA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	10/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37337497	AGGCTAGA others(7): Show AGGCTAGAGTGCAGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG03041.hp2 others(3): Show HG01891.hp1 HG02622.hp1 HG03041.hp2 HG03130.hp2 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0081 others(3): Show a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0081 a0001c0001t0003g0091 a0001c0001t0003g0098 a0001c0001t0018g0002	6	299	0.0201	-14	c.85+ others(29): Show c.85+2293_85+2306delACTGCACTCTAGCC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	2/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37342406	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19066.hp2 NA18946.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0083 a0001c0001t0001g0059 a0001c0001t0001g0083	2	299	0.0067	-14	c.39- others(29): Show c.39-2570_39-2557delTTTTTTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390140	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0087 a0001c0004t0005g0087	1	299	0.0033	-14	c.38+ others(31): Show c.38+16108_38+16121delTATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109164959	CACAGGAG others(7): Show CACAGGAGACAGGAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02015.hp1 HG00423.hp1 HG02015.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0086 a0001c0012 a0002c0086	a0001c0012t0002 a0002c0086t0003 a0001c0012t0002 a0002c0086t0003	a0001c0012t0002g0262 a0002c0086t0003g0260 a0001c0012t0002g0262 a0002c0086t0003g0260	2	308	0.0065	-14	c.654 others(31): Show c.654-1893_654-1880delCAGGAAACAGGAGA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109188222	CTTCCTTC others(7): Show CTTCCTTCCTTCCCT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0194 a0002c0006t0003g0194	1	308	0.0033	-14	c.214 others(29): Show c.2144+61_2144+74delTTCCTTCCTTCCCT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	13/52			chr12	TogoVar
ACAD8_chr11_134248568_134270855	134264830	GGAGCAGC others(7): Show GGAGCAGCCTGGTCA	G G	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19060.hp1 NA19005.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	2	448	0.0045	-14	c.119 others(29): Show c.1196-73_1196-60delAGCCTGGTCAGAGC	ACAD8	ENSG00000151498.12	transcript	ENST00000281182.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACADM_chr1_75719709_75768679	75760544	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02896.hp1 HG02897.hp2 others(3): Show HG01884.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 others(3): Show a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270	6	364	0.0165	-14	c.946 others(29): Show c.946-555_946-542delAAAAAAAAAAAAAA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar

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