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
ABR_chr17_998519_1184981	1022120	A A	AAACAAAA others(5): Show AAACAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0113 a0001c0001t0017g0113	1	337	0.0030	12	c.179 others(31): Show c.1792-8957_1792-8956insGTTTTTTTTGTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1024024	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0021 a0001c0001t0044g0021	1	337	0.0030	12	c.179 others(33): Show c.1792-10872_1792-10861dupTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1025119	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(44): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01169.hp2 HG01243.hp1 HG01346.hp1 HG01928.hp2 HG01943.hp1 HG02040.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02523.hp1 HG02698.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03831.hp1 HG03834.hp2 NA18906.hp2 NA18944.hp1 NA18947.hp1 NA18954.hp2 NA18955.hp1 NA19012.hp2 NA19074.hp1 NA19085.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0039 a0001c0001t0061 a0001c0001t0063 a0001c0001t0066 a0001c0001t0076 a0001c0001t0090 a0001c0001t0091 a0001c0002t0001 a0001c0002t0042 a0001c0002t0092 a0001c0003t0016 a0001c0003t0080 a0002c0005t0001 a0005c0008t0020	a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0074 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0074 a0001c0001t0001g0146 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0230 a0001c0001t0002g0151 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0072 a0001c0001t0003g0150 a0001c0001t0003g0207 a0001c0001t0004g0258 a0001c0001t0005g0282 a0001c0001t0005g0315 a0001c0001t0005g0318 a0001c0001t0008g0042 a0001c0001t0009g0018 a0001c0001t0009g0034 a0001c0001t0009g0046 a0001c0001t0017g0113 a0001c0001t0017g0225 a0001c0001t0026g0027 a0001c0001t0027g0038 a0001c0001t0028g0123 a0001c0001t0033g0327 a0001c0001t0039g0010 a0001c0001t0061g0149 a0001c0001t0063g0189 a0001c0001t0066g0236 a0001c0001t0076g0171 a0001c0001t0090g0301 a0001c0001t0091g0286 a0001c0002t0001g0051 a0001c0002t0042g0016 a0001c0002t0092g0336 a0001c0003t0016g0218 a0001c0003t0016g0229 a0001c0003t0080g0287 a0002c0005t0001g0186 a0005c0008t0020g0132	47	337	0.1395	12	c.179 others(33): Show c.1792-11967_1792-11956dupTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1076714	C C	CGGGGGGG others(5): Show CGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0232 a0001c0001t0011g0232	1	337	0.0030	12	c.700 others(29): Show c.700+2615_700+2616insCCCCCCCCCCCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	6/22			chr17	TogoVar
ABR_chr17_998519_1184981	1076722	G G	GGGGGGGG others(5): Show GGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0238 a0001c0001t0011g0238	1	337	0.0030	12	c.700 others(29): Show c.700+2607_700+2608insGCCCCCCCCCCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	6/22			chr17	TogoVar
ABR_chr17_998519_1184981	1111489	G G	GCCTCCGT others(5): Show GCCTCCGTCTGGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0119 a0001c0003t0012g0119	1	337	0.0030	12	c.247 others(31): Show c.247-10755_247-10754insTCCAGACGGAGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1112621	A A	AAGGAAGG others(5): Show AAGGAAGGAAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00621.hp2 others(80): Show HG00140.hp1 HG00408.hp1 HG00621.hp2 HG00642.hp1 HG00741.hp2 HG01123.hp2 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02132.hp2 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18962.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18983.hp2 NA18995.hp1 NA19000.hp2 NA19005.hp2 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045 a0001c0001t0049 a0001c0001t0050 a0001c0001t0057 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0070 a0001c0001t0074 a0001c0001t0076 a0001c0001t0086 a0001c0001t0091 a0001c0002t0001 a0001c0002t0011 a0001c0002t0012 a0001c0002t0038 a0001c0002t0092 a0001c0003t0012 a0001c0003t0017 a0001c0003t0021 a0001c0003t0052 a0001c0004t0024 a0001c0004t0037 a0001c0007t0003 a0004c0011t0009	a0001c0001t0001g0058 a0001c0001t0001g0089 a0001c0001t0001g0098 others(80): Show a0001c0001t0001g0058 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0133 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0224 a0001c0001t0001g0230 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0152 a0001c0001t0003g0059 a0001c0001t0003g0080 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0200 a0001c0001t0003g0237 a0001c0001t0004g0248 a0001c0001t0004g0250 a0001c0001t0004g0312 a0001c0001t0005g0309 a0001c0001t0006g0118 a0001c0001t0006g0204 a0001c0001t0006g0216 a0001c0001t0007g0280 a0001c0001t0007g0281 a0001c0001t0008g0020 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0009g0022 a0001c0001t0009g0032 a0001c0001t0009g0034 a0001c0001t0009g0036 a0001c0001t0010g0260 a0001c0001t0010g0261 a0001c0001t0010g0274 a0001c0001t0010g0314 a0001c0001t0011g0125 a0001c0001t0011g0238 a0001c0001t0011g0246 a0001c0001t0014g0097 a0001c0001t0015g0265 a0001c0001t0017g0113 a0001c0001t0017g0225 a0001c0001t0019g0211 a0001c0001t0021g0284 a0001c0001t0027g0038 a0001c0001t0027g0039 a0001c0001t0028g0122 a0001c0001t0029g0116 a0001c0001t0032g0259 a0001c0001t0034g0003 a0001c0001t0039g0010 a0001c0001t0040g0002 a0001c0001t0043g0008 a0001c0001t0045g0247 a0001c0001t0049g0193 a0001c0001t0050g0134 a0001c0001t0057g0174 a0001c0001t0063g0189 a0001c0001t0064g0239 a0001c0001t0066g0236 a0001c0001t0070g0213 a0001c0001t0074g0115 a0001c0001t0076g0171 a0001c0001t0086g0294 a0001c0001t0091g0286 a0001c0002t0001g0110 a0001c0002t0011g0109 a0001c0002t0012g0244 a0001c0002t0038g0013 a0001c0002t0092g0336 a0001c0003t0012g0119 a0001c0003t0017g0120 a0001c0003t0021g0276 a0001c0003t0052g0220 a0001c0004t0024g0041 a0001c0004t0037g0017 a0001c0007t0003g0140 a0004c0011t0009g0029	83	337	0.2463	12	c.247 others(31): Show c.247-11898_247-11887dupCTCTTCCTTCCT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1146260	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG00733.hp2 others(6): Show HG00544.hp1 HG00639.hp2 HG00733.hp2 HG01243.hp1 HG02300.hp1 HG02698.hp1 HG02809.hp1 HG03688.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0090 a0001c0003t0021	a0001c0001t0001g0082 a0001c0001t0001g0230 a0001c0001t0002g0179 others(6): Show a0001c0001t0001g0082 a0001c0001t0001g0230 a0001c0001t0002g0179 a0001c0001t0003g0117 a0001c0001t0004g0313 a0001c0001t0008g0042 a0001c0001t0009g0018 a0001c0001t0090g0301 a0001c0003t0021g0276	9	337	0.0267	12	c.62- others(29): Show c.62-20905_62-20894dupGTGTGTGTGTGT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABTB2_chr11_34145987_34363010	34172418	A A	ATATATAT others(5): Show ATATATATATATG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	246	0.0041	12	c.139 others(29): Show c.1397+736_1397+737insCATATATATATA	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	4/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34172437	T T	TATAGATA others(5): Show TATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02970.hp1 NA18747.hp1 others(1): Show HG02015.hp1 HG02970.hp1 NA18747.hp1 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0030 a0001c0001t0001g0131 a0002c0002t0002g0205 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0131 a0002c0002t0002g0205 a0002c0002t0002g0242	4	246	0.0163	12	c.139 others(29): Show c.1397+706_1397+717dupCTATCTATCTAT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	4/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34182497	T T	TGGGGGGG others(5): Show TGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02109.hp1 HG02273.hp2 others(8): Show HG01258.hp1 HG02109.hp1 HG02273.hp2 HG02572.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG03139.hp1 HG03669.hp1 HG03831.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0008	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0003c0003t0001 a0003c0008t0014	a0001c0001t0001g0035 a0001c0001t0001g0070 a0001c0001t0001g0093 others(8): Show a0001c0001t0001g0035 a0001c0001t0001g0070 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0003g0173 a0001c0001t0003g0182 a0002c0002t0002g0189 a0003c0003t0001g0096 a0003c0008t0014g0022	11	246	0.0447	12	c.124 others(31): Show c.1245-9202_1245-9191dupCCCCCCCCCCCC	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	3/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34214139	A A	AAAACACA others(5): Show AAAACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0187 a0001c0001t0021g0187	1	246	0.0041	12	c.884 others(29): Show c.884-9450_884-9449insGTGTGTGTGTTT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34214139	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01070.hp1 HG01192.hp1 others(15): Show HG00621.hp2 HG01070.hp1 HG01192.hp1 HG01257.hp2 HG01358.hp2 HG02055.hp2 HG02602.hp1 HG02886.hp2 HG02897.hp1 HG03130.hp1 HG03209.hp2 NA18906.hp2 NA18962.hp1 NA18962.hp2 NA18971.hp2 NA18983.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0007 others(4): Show a0001c0001 a0001c0005 a0001c0007 a0001c0012 a0002c0002 a0002c0013 a0002c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0005t0022 a0001c0007t0001 a0001c0012t0001 a0002c0002t0002 a0002c0013t0002 a0002c0019t0027	a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0049 others(15): Show a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0003g0162 a0001c0001t0015g0157 a0001c0005t0022g0159 a0001c0007t0001g0066 a0001c0007t0001g0154 a0001c0012t0001g0044 a0002c0002t0002g0202 a0002c0002t0002g0235 a0002c0013t0002g0225 a0002c0019t0027g0228	18	246	0.0732	12	c.884 others(29): Show c.884-9461_884-9450dupGTGTGTGTGTGT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34274158	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03471.hp1 HG02630.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0059 a0001c0001t0019g0021 a0001c0001t0001g0059 a0001c0001t0019g0021	2	246	0.0081	12	c.884 others(31): Show c.884-69480_884-69469dupTTTTTTTTTTTT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34340043	C C	CCAAACAA others(5): Show CCAAACAAACAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03225.hp2 HG03516.hp2 others(4): Show HG02155.hp2 HG03225.hp2 HG03516.hp2 HG03540.hp2 NA18747.hp1 NA18962.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0001g0083 a0001c0001t0001g0084 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0003g0186	7	246	0.0285	12	c.883 others(31): Show c.883+16646_883+16657dupTTTGTTTGTTTG	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB3_chr12_107313434_107664642	107335286	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0158 a0001c0003t0005g0158	1	186	0.0054	12	c.113 others(33): Show c.1135+15240_1135+15251dupAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107386890	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03453.hp2 NA20300.hp1 HG01256.hp2 HG03453.hp2 NA20300.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0016 a0006c0032 a0001c0001 a0005c0016 a0006c0032	a0001c0001t0003 a0005c0016t0003 a0006c0032t0008 a0001c0001t0003 a0005c0016t0003 a0006c0032t0008	a0001c0001t0003g0032 a0005c0016t0003g0161 a0006c0032t0008g0160 a0001c0001t0003g0032 a0005c0016t0003g0161 a0006c0032t0008g0160	3	186	0.0161	12	c.113 others(33): Show c.1135+66838_1135+66849dupGTGTGTGTGTGT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107441774	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01433.hp2 HG01496.hp1 others(8): Show HG00280.hp2 HG01433.hp2 HG01496.hp1 HG01943.hp1 HG01993.hp1 HG02257.hp1 HG02486.hp2 HG02896.hp1 NA18983.hp1 NA19030.hp1 NA19065.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0003 a0002c0002 a0003c0004 others(5): Show a0001c0003 a0002c0002 a0003c0004 a0003c0006 a0003c0008 a0004c0005 a0005c0007 a0005c0016	a0001c0003t0002 a0002c0002t0004 a0003c0004t0004 others(6): Show a0001c0003t0002 a0002c0002t0004 a0003c0004t0004 a0003c0006t0002 a0003c0006t0005 a0003c0008t0001 a0004c0005t0009 a0005c0007t0003 a0005c0016t0003	a0001c0003t0002g0095 a0002c0002t0004g0110 a0002c0002t0004g0112 others(8): Show a0001c0003t0002g0095 a0002c0002t0004g0110 a0002c0002t0004g0112 a0003c0004t0004g0002 a0003c0006t0002g0139 a0003c0006t0005g0130 a0003c0008t0001g0049 a0004c0005t0009g0103 a0004c0005t0009g0107 a0005c0007t0003g0119 a0005c0016t0003g0063	11	186	0.0591	12	c.113 others(33): Show c.1136-78707_1136-78696dupAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107469866	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp2 HG02155.hp1 others(8): Show HG01978.hp1 HG01978.hp2 HG02155.hp1 HG02698.hp2 HG02976.hp1 HG03834.hp1 HG04204.hp1 NA19030.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0003c0006 a0003c0029 a0004c0005 a0005c0016	a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0010 a0003c0006t0005 a0003c0029t0002 a0004c0005t0009 a0005c0016t0003	a0001c0001t0001g0001 a0001c0001t0001g0050 a0001c0001t0004g0033 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0050 a0001c0001t0004g0033 a0001c0003t0002g0146 a0002c0002t0001g0117 a0002c0002t0004g0114 a0002c0002t0010g0181 a0003c0006t0005g0137 a0003c0029t0002g0131 a0004c0005t0009g0107 a0005c0016t0003g0161	11	186	0.0591	12	c.113 others(33): Show c.1136-50575_1136-50564dupTTCTTTCTTTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107481883	G G	GTCTCTCT others(5): Show GTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02647.hp1 HG02698.hp1 others(1): Show HG00280.hp2 HG02647.hp1 HG02698.hp1 NA18983.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0007 a0001c0001 a0002c0002 a0005c0007	a0001c0001t0001 a0002c0002t0004 a0002c0002t0025 others(1): Show a0001c0001t0001 a0002c0002t0004 a0002c0002t0025 a0005c0007t0003	a0001c0001t0001g0008 a0002c0002t0004g0110 a0002c0002t0025g0164 others(1): Show a0001c0001t0001g0008 a0002c0002t0004g0110 a0002c0002t0025g0164 a0005c0007t0003g0119	4	186	0.0215	12	c.113 others(33): Show c.1136-38570_1136-38559dupCTCTCTCTCTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107503756	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01884.hp1 HG02615.hp1 others(1): Show HG00621.hp2 HG01884.hp1 HG02615.hp1 HG03139.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0011 a0002c0002 others(1): Show a0001c0001 a0001c0011 a0002c0002 a0003c0008	a0001c0001t0006 a0001c0011t0006 a0002c0002t0012 others(1): Show a0001c0001t0006 a0001c0011t0006 a0002c0002t0012 a0003c0008t0001	a0001c0001t0006g0100 a0001c0011t0006g0101 a0002c0002t0012g0180 others(1): Show a0001c0001t0006g0100 a0001c0011t0006g0101 a0002c0002t0012g0180 a0003c0008t0001g0052	4	186	0.0215	12	c.113 others(33): Show c.1136-16724_1136-16713dupAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107508438	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	186	0.0054	12	c.113 others(33): Show c.1136-12030_1136-12019dupTTTTTTTTTTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107508443	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02074.hp2 NA19086.hp1 HG02056.hp1 HG02074.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 a0001c0001t0001 a0001c0001t0003 a0001c0003t0002	a0001c0001t0001g0004 a0001c0001t0003g0015 a0001c0003t0002g0159 a0001c0001t0001g0004 a0001c0001t0003g0015 a0001c0003t0002g0159	3	186	0.0161	12	c.113 others(33): Show c.1136-12033_1136-12032insGTTTTTTTTTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107525324	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0133 a0001c0003t0005g0133	1	186	0.0054	12	c.128 others(31): Show c.1285+4703_1285+4714dupAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107542311	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01074.hp2 HG01109.hp1 others(31): Show HG00621.hp2 HG01074.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01496.hp2 HG01884.hp1 HG01943.hp2 HG02056.hp2 HG02074.hp1 HG02155.hp2 HG02257.hp1 HG02451.hp1 HG02615.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03834.hp2 NA18522.hp1 NA18522.hp2 NA18964.hp1 NA19086.hp2 NA20129.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0007 a0009 a0013 a0014 a0018	a0001c0001 a0001c0003 a0001c0011 others(12): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002 a0002c0009 a0002c0018 a0002c0031 a0003c0004 a0003c0008 a0003c0021 a0007c0010 a0009c0034 a0013c0024 a0014c0023 a0018c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0005 a0001c0011t0006 a0002c0002t0004 a0002c0002t0007 a0002c0002t0012 a0002c0009t0003 a0002c0009t0029 a0002c0018t0020 a0002c0031t0003 a0003c0004t0001 a0003c0004t0002 a0003c0004t0011 a0003c0004t0016 a0003c0008t0001 a0003c0008t0002 a0003c0008t0011 a0003c0021t0006 a0007c0010t0005 a0009c0034t0003 a0013c0024t0001 a0014c0023t0006 a0018c0027t0001	a0001c0001t0001g0008 a0001c0001t0001g0058 a0001c0001t0002g0042 others(31): Show a0001c0001t0001g0008 a0001c0001t0001g0058 a0001c0001t0002g0042 a0001c0001t0002g0082 a0001c0001t0006g0100 a0001c0003t0005g0133 a0001c0003t0005g0143 a0001c0011t0006g0101 a0002c0002t0004g0116 a0002c0002t0004g0127 a0002c0002t0007g0178 a0002c0002t0012g0180 a0002c0009t0003g0064 a0002c0009t0003g0065 a0002c0009t0029g0069 a0002c0018t0020g0168 a0002c0031t0003g0066 a0003c0004t0001g0022 a0003c0004t0001g0024 a0003c0004t0001g0040 a0003c0004t0002g0076 a0003c0004t0011g0155 a0003c0004t0016g0005 a0003c0008t0001g0021 a0003c0008t0001g0049 a0003c0008t0001g0052 a0003c0008t0002g0092 a0003c0008t0011g0153 a0003c0021t0006g0151 a0007c0010t0005g0090 a0009c0034t0003g0070 a0013c0024t0001g0019 a0014c0023t0006g0099 a0018c0027t0001g0045	34	186	0.1828	12	c.128 others(31): Show c.1286-1621_1286-1610dupAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107566648	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01943.hp1 HG01978.hp1 others(10): Show HG00621.hp2 HG01943.hp1 HG01978.hp1 HG01993.hp1 HG02602.hp1 HG02738.hp1 HG03139.hp2 HG04204.hp2 NA18747.hp2 NA18999.hp1 NA19030.hp2 NA19087.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0003c0006 a0005c0007 a0005c0016 a0008c0013	a0001c0001t0002 a0001c0001t0006 a0001c0003t0005 others(6): Show a0001c0001t0002 a0001c0001t0006 a0001c0003t0005 a0002c0002t0012 a0003c0004t0004 a0003c0006t0005 a0005c0007t0026 a0005c0016t0003 a0008c0013t0019	a0001c0001t0002g0106 a0001c0001t0006g0100 a0001c0003t0005g0133 others(10): Show a0001c0001t0002g0106 a0001c0001t0006g0100 a0001c0003t0005g0133 a0002c0002t0012g0177 a0002c0002t0012g0180 a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0006t0005g0130 a0003c0006t0005g0137 a0003c0006t0005g0149 a0005c0007t0026g0123 a0005c0016t0003g0161 a0008c0013t0019g0185	13	186	0.0699	12	c.149 others(33): Show c.1491-14478_1491-14467dupCACACACACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107566680	C C	CACACACA others(5): Show CACACACACACAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02922.hp1 HG02965.hp2 HG01109.hp1 HG02922.hp1 HG02965.hp2	a0003 a0007 a0003 a0007	a0003c0008 a0003c0021 a0007c0010 a0003c0008 a0003c0021 a0007c0010	a0003c0008t0002 a0003c0021t0006 a0007c0010t0005 a0003c0008t0002 a0003c0021t0006 a0007c0010t0005	a0003c0008t0002g0092 a0003c0021t0006g0151 a0007c0010t0005g0150 a0003c0008t0002g0092 a0003c0021t0006g0151 a0007c0010t0005g0150	3	186	0.0161	12	c.149 others(33): Show c.1491-14467_1491-14466insCACACAAACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107573464	C C	CGATGGAT others(5): Show CGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02698.hp2 HG02965.hp1 others(4): Show HG01884.hp1 HG02698.hp2 HG02965.hp1 NA18522.hp2 NA18989.hp1 NA19002.hp2 NA19030.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0014	a0001c0001 a0001c0011 a0002c0002 others(2): Show a0001c0001 a0001c0011 a0002c0002 a0004c0005 a0014c0023	a0001c0001t0001 a0001c0001t0002 a0001c0011t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0011t0006 a0002c0002t0034 a0004c0005t0009 a0014c0023t0006	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0002g0042 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0002g0042 a0001c0011t0006g0101 a0002c0002t0034g0115 a0004c0005t0009g0107 a0014c0023t0006g0099	7	186	0.0376	12	c.149 others(31): Show c.1491-7652_1491-7641dupGGATGGATGGAT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107648380	C C	CCACACAC others(5): Show CCACACACACACA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01361.hp2 NA18747.hp1 HG00621.hp1 HG01361.hp2 NA18747.hp1	a0002 a0003 a0016 a0002 a0003 a0016	a0002c0002 a0003c0004 a0016c0019 a0002c0002 a0003c0004 a0016c0019	a0002c0002t0018 a0003c0004t0022 a0016c0019t0008 a0002c0002t0018 a0003c0004t0022 a0016c0019t0008	a0002c0002t0018g0183 a0003c0004t0022g0041 a0016c0019t0008g0020 a0002c0002t0018g0183 a0003c0004t0022g0041 a0016c0019t0008g0020	3	186	0.0161	12	c.292 others(29): Show c.2923-803_2923-792dupCACACACACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107654815	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA20129.hp2 HG02647.hp2 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0008 a0002c0002 a0003c0008	a0002c0002t0036 a0003c0008t0002 a0002c0002t0036 a0003c0008t0002	a0002c0002t0036g0170 a0003c0008t0002g0087 a0002c0002t0036g0170 a0003c0008t0002g0087	2	186	0.0108	12	c.310 others(31): Show c.3106-2660_3106-2649dupCACACACACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107654834	A A	ACACACAC others(5): Show ACACACACACACG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03492.hp2 HG01361.hp2 HG03492.hp2	a0008 a0016 a0008 a0016	a0008c0013 a0016c0019 a0008c0013 a0016c0019	a0008c0013t0008 a0016c0019t0008 a0008c0013t0008 a0016c0019t0008	a0008c0013t0008g0073 a0016c0019t0008g0020 a0008c0013t0008g0073 a0016c0019t0008g0020	2	186	0.0108	12	c.310 others(31): Show c.3106-2664_3106-2663insGCACACACACAC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAA2_chr18_49777164_49818533	49801785	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02683.hp2 HG02895.hp1 others(16): Show HG02040.hp1 HG02683.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03239.hp2 HG03491.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18969.hp2 NA18974.hp1 NA18980.hp2 NA18998.hp2 NA19066.hp1 NA19066.hp2 NA19080.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0012 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0003t0001 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0029 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0012g0020 a0001c0003t0001g0158 a0002c0002t0001g0139 a0002c0002t0004g0103	19	434	0.0438	12	c.183 others(27): Show c.183+890_183+901dupATATATATATAT	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9			chr18	TogoVar
ACAA2_chr18_49777164_49818533	49801812	A A	ATATATAT others(5): Show ATATATATATATC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG06807.hp1 HG02622.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0142 a0001c0001t0019g0143 a0001c0001t0019g0142 a0001c0001t0019g0143	2	434	0.0046	12	c.183 others(27): Show c.183+874_183+875insGATATATATATA	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9			chr18	TogoVar
ACAA2_chr18_49777164_49818533	49803239	A A	AAATAATA others(5): Show AAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG01070.hp1 others(33): Show HG00438.hp2 HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01346.hp1 HG01358.hp2 HG01981.hp1 HG02027.hp1 HG02293.hp2 HG02300.hp2 HG03490.hp1 HG03516.hp2 HG03834.hp2 NA18522.hp2 NA18939.hp2 NA18940.hp2 NA18949.hp2 NA18955.hp2 NA18960.hp1 NA18967.hp1 NA18973.hp2 NA18977.hp1 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19043.hp1 NA19065.hp1 NA19082.hp2 NA19083.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0002c0002t0001 a0004c0005t0008	a0001c0001t0001g0018 a0001c0001t0001g0100 a0001c0001t0001g0101 others(29): Show a0001c0001t0001g0018 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0002g0012 a0001c0001t0002g0046 a0001c0001t0002g0083 a0001c0001t0003g0306 a0001c0001t0003g0316 a0001c0001t0005g0260 a0001c0001t0005g0280 a0001c0001t0005g0293 a0001c0001t0005g0307 a0001c0001t0006g0214 a0001c0001t0006g0247 a0001c0001t0007g0267 a0001c0001t0007g0268 a0001c0001t0009g0052 a0001c0001t0009g0053 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0099 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0131 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0004c0005t0008g0232	36	434	0.0830	12	c.17- others(25): Show c.17-398_17-387dupATTATTATTATT	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	1/9			chr18	TogoVar
ACACA_chr17_37079992_37411836	37081323	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02723.hp1 HG02818.hp2 others(11): Show HG02257.hp1 HG02723.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp1 HG03195.hp2 HG03579.hp1 NA18970.hp1 NA18980.hp2 NA18991.hp1 NA18999.hp1 NA19068.hp1 NA19078.hp1 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0028 a0003c0008t0003	a0001c0001t0001g0138 a0001c0001t0001g0259 a0001c0001t0001g0263 others(11): Show a0001c0001t0001g0138 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0002g0034 a0001c0001t0003g0041 a0001c0001t0003g0112 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0181 a0001c0001t0028g0264 a0003c0008t0003g0248	14	299	0.0468	12	c.59 others(23): Show c.5992_*5993insACACACACACAC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding		3668		chr17	TogoVar
ACACA_chr17_37079992_37411836	37112049	A A	ACTATCTA others(5): Show ACTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG03098.hp2 others(6): Show HG02622.hp1 HG02886.hp2 HG03098.hp2 HG03130.hp2 HG03579.hp1 NA18970.hp2 NA19043.hp2 NA19064.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0008	a0001c0001t0003 a0001c0001t0035 a0001c0002t0001 others(2): Show a0001c0001t0003 a0001c0001t0035 a0001c0002t0001 a0001c0004t0005 a0003c0008t0003	a0001c0001t0003g0081 a0001c0001t0003g0098 a0001c0001t0035g0299 others(6): Show a0001c0001t0003g0081 a0001c0001t0003g0098 a0001c0001t0035g0299 a0001c0002t0001g0255 a0001c0002t0001g0265 a0001c0002t0001g0269 a0001c0004t0005g0090 a0001c0004t0005g0125 a0003c0008t0003g0248	9	299	0.0301	12	c.645 others(29): Show c.6453-418_6453-407dupATAGATAGATAG	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	51/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37163196	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(55): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00609.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG02004.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02895.hp1 HG02895.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03209.hp2 HG03239.hp2 HG03491.hp1 HG03579.hp2 HG03669.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp2 NA18946.hp2 NA18970.hp1 NA18972.hp1 NA18980.hp2 NA18999.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19064.hp1 NA19066.hp2 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0002c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0002t0023 a0001c0003t0001 a0001c0003t0002 a0001c0003t0013 a0001c0004t0005 a0001c0009t0001 a0002c0013t0001	a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0059 others(55): Show a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0001g0141 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0003g0045 a0001c0001t0003g0116 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0004g0085 a0001c0001t0004g0115 a0001c0001t0004g0159 a0001c0001t0004g0165 a0001c0001t0004g0170 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0188 a0001c0001t0006g0189 a0001c0001t0006g0207 a0001c0001t0007g0073 a0001c0001t0007g0093 a0001c0001t0007g0275 a0001c0001t0009g0024 a0001c0001t0009g0031 a0001c0001t0012g0095 a0001c0001t0015g0271 a0001c0002t0023g0236 a0001c0003t0001g0163 a0001c0003t0002g0019 a0001c0003t0013g0172 a0001c0004t0005g0117 a0001c0009t0001g0261 a0002c0013t0001g0071	58	299	0.1940	12	c.508 others(31): Show c.5080-1158_5080-1147dupTTTTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37173982	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01993.hp2 HG02257.hp2 HG01070.hp2 HG01993.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0156 a0001c0002t0001g0256 a0001c0002t0002g0012 a0001c0002t0001g0156 a0001c0002t0001g0256 a0001c0002t0002g0012	3	299	0.0100	12	c.507 others(31): Show c.5079+5266_5079+5277dupTATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(5): Show ATATATATATATT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0285 a0001c0002t0001g0285	1	299	0.0033	12	c.507 others(31): Show c.5079+5239_5079+5240insAATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATTT others(5): Show ATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01515.hp2 NA18969.hp2 HG01168.hp2 HG01515.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0234 a0001c0001t0001g0289 a0001c0001t0001g0184 a0001c0001t0001g0234 a0001c0001t0001g0289	3	299	0.0100	12	c.507 others(31): Show c.5079+5239_5079+5240insAAAAAAAATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATTTTT others(5): Show ATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp1 HG01261.hp2 others(4): Show HG00099.hp2 HG01099.hp1 HG01261.hp2 HG01346.hp2 HG02004.hp1 HG02698.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0003 a0001c0001t0001 a0001c0001t0004 a0001c0003t0003	a0001c0001t0001g0177 a0001c0001t0004g0159 a0001c0001t0004g0166 others(4): Show a0001c0001t0001g0177 a0001c0001t0004g0159 a0001c0001t0004g0166 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0176 a0001c0003t0003g0279	7	299	0.0234	12	c.507 others(31): Show c.5079+5239_5079+5240insAAAAAAAAAATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01255.hp2 HG01952.hp2 others(1): Show HG00738.hp1 HG01255.hp2 HG01952.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0053 a0001c0001t0004g0160 a0001c0001t0004g0161 others(1): Show a0001c0001t0001g0053 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0169	4	299	0.0134	12	c.507 others(31): Show c.5079+5228_5079+5239dupAAAAAAAAAAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37185402	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02280.hp2 others(3): Show HG01891.hp2 HG02109.hp2 HG02280.hp2 HG02572.hp2 HG02896.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0005 a0001c0001t0003 a0001c0004t0005	a0001c0001t0003g0041 a0001c0004t0005g0040 a0001c0004t0005g0087 others(3): Show a0001c0001t0003g0041 a0001c0004t0005g0040 a0001c0004t0005g0087 a0001c0004t0005g0118 a0001c0004t0005g0153 a0001c0004t0005g0268	6	299	0.0201	12	c.477 others(31): Show c.4776+2863_4776+2874dupAAAAAAAAAAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	39/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260249	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03195.hp2 HG02818.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0259 a0001c0001t0028g0264 a0001c0001t0001g0259 a0001c0001t0028g0264	2	299	0.0067	12	c.133 others(29): Show c.1330-731_1330-720dupATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37268741	C C	CTATATAT others(5): Show CTATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19240.hp1 HG03098.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0035 a0001c0001t0011 a0001c0001t0035	a0001c0001t0011g0105 a0001c0001t0035g0299 a0001c0001t0011g0105 a0001c0001t0035g0299	2	299	0.0067	12	c.111 others(31): Show c.1119+1998_1119+2009dupTATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	10/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37268741	C C	CTATCTAT others(5): Show CTATCTATCTATA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0281 a0001c0002t0001g0281	1	299	0.0033	12	c.111 others(31): Show c.1119+2009_1119+2010insTATAGATAGATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	10/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37280730	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03130.hp2 NA18969.hp1 others(3): Show HG02622.hp1 HG03130.hp2 NA18969.hp1 NA19030.hp1 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 a0001c0001t0001 a0001c0001t0003 a0001c0003t0002	a0001c0001t0001g0047 a0001c0001t0003g0081 a0001c0001t0003g0091 others(3): Show a0001c0001t0001g0047 a0001c0001t0003g0081 a0001c0001t0003g0091 a0001c0001t0003g0098 a0001c0001t0003g0116 a0001c0003t0002g0014	6	299	0.0201	12	c.610 others(29): Show c.610+2525_610+2536dupGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	5/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37291137	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	299	0.0033	12	c.339 others(29): Show c.339-6168_339-6167insGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37291143	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02145.hp1 others(5): Show HG01167.hp2 HG01169.hp2 HG02145.hp1 HG02622.hp1 HG02809.hp2 HG03041.hp2 HG03139.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0004t0005 a0001c0006t0005	a0001c0001t0001g0210 a0001c0001t0001g0233 a0001c0001t0003g0081 others(5): Show a0001c0001t0001g0210 a0001c0001t0001g0233 a0001c0001t0003g0081 a0001c0001t0018g0002 a0001c0004t0005g0117 a0001c0004t0005g0120 a0001c0004t0005g0277 a0001c0006t0005g0119	8	299	0.0268	12	c.339 others(29): Show c.339-6185_339-6174dupGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37316302	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00673.hp1 others(20): Show HG00438.hp2 HG00609.hp2 HG00673.hp1 HG00735.hp1 HG01070.hp1 HG01167.hp2 HG01169.hp2 HG01884.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02071.hp2 HG02293.hp1 HG04228.hp1 NA18747.hp2 NA18950.hp1 NA18954.hp1 NA18969.hp2 NA18977.hp2 NA19011.hp1 NA19057.hp1 NA19062.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0009t0001	a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0180 others(20): Show a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0292 a0001c0001t0004g0173 a0001c0001t0016g0204 a0001c0001t0017g0001 a0001c0001t0024g0214 a0001c0001t0026g0230 a0001c0009t0001g0261	23	299	0.0769	12	c.338 others(31): Show c.338+13859_338+13870dupGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar

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