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
ABCA12_chr2_214926542_215143626	215134620	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGACAAAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02895.hp1 others(8): Show HG01884.hp2 HG02257.hp2 HG02895.hp1 HG02897.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG06807.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0010 a0001c0012 a0001c0015 others(6): Show a0001c0010 a0001c0012 a0001c0015 a0001c0068 a0002c0008 a0002c0013 a0002c0017 a0002c0054 a0010c0055	a0001c0010t0009 a0001c0012t0014 a0001c0015t0007 others(7): Show a0001c0010t0009 a0001c0012t0014 a0001c0015t0007 a0001c0015t0009 a0001c0068t0003 a0002c0008t0007 a0002c0013t0018 a0002c0017t0016 a0002c0054t0009 a0010c0055t0010	a0001c0010t0009g0001 a0001c0012t0014g0015 a0001c0015t0007g0013 others(8): Show a0001c0010t0009g0001 a0001c0012t0014g0015 a0001c0015t0007g0013 a0001c0015t0009g0006 a0001c0068t0003g0016 a0002c0008t0007g0005 a0002c0013t0018g0002 a0002c0017t0016g0179 a0002c0017t0016g0180 a0002c0054t0009g0004 a0010c0055t0010g0184	11	198	0.0556	20	c.69+ others(35): Show c.69+3519_69+3520insGTTTGTCTCTCTCTCTCTCT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48225109	G G	GTGCCTGC others(13): Show GTGCCTGCCTGCCTGCCTGCC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0132 a0005c0005t0003g0132	1	178	0.0056	20	c.469 others(37): Show c.469-2143_469-2124dupGCCTGCCTGCCTGCCTGCCT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	5/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48225135	G G	GCCTTCCT others(13): Show GCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA19043.hp2 NA18992.hp1 NA19043.hp2	a0006 a0015 a0006 a0015	a0006c0007 a0015c0076 a0006c0007 a0015c0076	a0006c0007t0002 a0015c0076t0001 a0006c0007t0002 a0015c0076t0001	a0006c0007t0002g0129 a0015c0076t0001g0021 a0006c0007t0002g0129 a0015c0076t0001g0021	2	178	0.0112	20	c.469 others(37): Show c.469-2089_469-2070dupCTTCCTTCCTTCCTTCCTTC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	5/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48225140	C C	CCTTCCTT others(13): Show CCTTCCTTCCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0104 a0001c0104	a0001c0104t0005 a0001c0104t0005	a0001c0104t0005g0044 a0001c0104t0005g0044	1	178	0.0056	20	c.469 others(37): Show c.469-2103_469-2102insTCTTCCTTCCTTCCTTCCTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	5/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48232139	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	178	0.0056	20	c.764 others(37): Show c.764-1873_764-1854dupTTTTTTTTTTTTTTTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	7/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48330737	A A	ACATCCAT others(13): Show ACATCCATCCATCCATCCATC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0007 a0007	a0007c0102 a0007c0102	a0007c0102t0001 a0007c0102t0001	a0007c0102t0001g0020 a0007c0102t0001g0020	1	178	0.0056	20	c.100 others(41): Show c.10000-4660_10000-4641dupCATCCATCCATCCATCCATC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	27/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48358166	A A	AAGGACAG others(13): Show AAGGACAGGACAGGACAGGAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0026 a0026	a0026c0026 a0026c0026	a0026c0026t0001 a0026c0026t0001	a0026c0026t0001g0053 a0026c0026t0001g0053	1	178	0.0056	20	c.106 others(41): Show c.10688+5694_10688+5713dupCAGGACAGGACAGGACAGGA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	31/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48401744	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp2 NA18987.hp1 others(1): Show HG02717.hp2 HG02809.hp2 NA18987.hp1 NA19007.hp1	a0015 a0017 a0023 others(1): Show a0015 a0017 a0023 a0071	a0015c0025 a0017c0096 a0023c0018 others(1): Show a0015c0025 a0017c0096 a0023c0018 a0071c0038	a0015c0025t0003 a0017c0096t0001 a0023c0018t0004 others(1): Show a0015c0025t0003 a0017c0096t0001 a0023c0018t0004 a0071c0038t0005	a0015c0025t0003g0025 a0017c0096t0001g0049 a0023c0018t0004g0091 others(1): Show a0015c0025t0003g0025 a0017c0096t0001g0049 a0023c0018t0004g0091 a0071c0038t0005g0135	4	178	0.0225	20	c.118 others(41): Show c.11874-1926_11874-1907dupACACACACACACACACACAC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	38/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411291	C C	CTTCTTTT others(13): Show CTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0167 a0004c0008t0004g0167	1	178	0.0056	20	c.122 others(39): Show c.12228+631_12228+650dupTCTTTTCTTTTCTTTTCTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48633931	C C	CATAGATA others(13): Show CATAGATAGATAGATACATAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0007 a0007c0011t0007	a0007c0011t0007g0165 a0007c0011t0007g0165	1	178	0.0056	20	c.148 others(41): Show c.14838-9342_14838-9341insCATAGATAGATAGATAGATA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	59/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48633943	G G	GATACATA others(13): Show GATACATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03486.hp1 HG02280.hp1 HG03486.hp1	a0068 a0081 a0068 a0081	a0068c0067 a0081c0086 a0068c0067 a0081c0086	a0068c0067t0009 a0081c0086t0009 a0068c0067t0009 a0081c0086t0009	a0068c0067t0009g0142 a0081c0086t0009g0160 a0068c0067t0009g0142 a0081c0086t0009g0160	2	178	0.0112	20	c.148 others(41): Show c.14838-9342_14838-9341insCATAGATAGATAGATACATA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	59/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104862674	C C	CGGGCAGG others(13): Show CGGGCAGGGCAGGGCAGGGCA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0008 a0002c0024t0008	a0002c0024t0008g0003 a0002c0024t0008g0008 a0002c0024t0008g0003 a0002c0024t0008g0008	2	318	0.0063	20	c.422 others(35): Show c.422-875_422-874insTGCCCTGCCCTGCCCTGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104882028	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01517.hp1 HG01517.hp2 others(14): Show HG00408.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG02004.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp2 HG02300.hp2 HG02922.hp2 HG03927.hp1 NA19084.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0007 a0009 a0010 a0011 a0014 a0026	a0001c0001 a0002c0031 a0002c0078 others(10): Show a0001c0001 a0002c0031 a0002c0078 a0003c0002 a0003c0009 a0003c0076 a0006c0004 a0007c0003 a0009c0021 a0010c0007 a0011c0010 a0014c0023 a0026c0111	a0001c0001t0001 a0002c0031t0001 a0002c0078t0001 others(11): Show a0001c0001t0001 a0002c0031t0001 a0002c0078t0001 a0003c0002t0002 a0003c0009t0003 a0003c0076t0002 a0006c0004t0045 a0007c0003t0004 a0009c0021t0004 a0010c0007t0003 a0011c0010t0005 a0011c0010t0037 a0014c0023t0017 a0026c0111t0002	a0001c0001t0001g0026 a0001c0001t0001g0176 a0002c0031t0001g0152 others(14): Show a0001c0001t0001g0026 a0001c0001t0001g0176 a0002c0031t0001g0152 a0002c0078t0001g0216 a0003c0002t0002g0069 a0003c0002t0002g0070 a0003c0009t0003g0138 a0003c0076t0002g0130 a0006c0004t0045g0155 a0007c0003t0004g0027 a0009c0021t0004g0204 a0010c0007t0003g0149 a0011c0010t0005g0255 a0011c0010t0005g0258 a0011c0010t0037g0181 a0014c0023t0017g0105 a0026c0111t0002g0065	17	318	0.0535	20	c.421 others(36): Show c.421+991_421+1010dupTTTTTTTTTTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA2_chr9_137002234_137033237	137022120	A A	AGTGGGGG others(13): Show AGTGGGGGCGTGGCTCAGATG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	320	0.0031	20	c.568 others(35): Show c.568-139_568-120dupCATCTGAGCCACGCCCCCAC	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	6/48			chr9	TogoVar
ABCA4_chr1_93987834_94126148	93998713	A A	ATTTATTT others(13): Show ATTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03516.hp2 HG02886.hp1 HG03516.hp2	a0003 a0031 a0003 a0031	a0003c0068 a0031c0059 a0003c0068 a0031c0059	a0003c0068t0001 a0031c0059t0001 a0003c0068t0001 a0031c0059t0001	a0003c0068t0001g0108 a0031c0059t0001g0066 a0003c0068t0001g0108 a0031c0059t0001g0066	2	306	0.0065	20	c.648 others(37): Show c.6480-623_6480-604dupATAAAATAAAATAAAATAAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	47/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	93998744	T T	TTTATTTT others(13): Show TTTATTTTATTTTATTTTATG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp1 HG02965.hp2 others(5): Show HG02615.hp2 HG02818.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 NA18974.hp1 NA19240.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0025	a0001c0004 a0001c0006 a0003c0075 others(2): Show a0001c0004 a0001c0006 a0003c0075 a0005c0042 a0025c0101	a0001c0004t0002 a0001c0006t0001 a0003c0075t0001 others(2): Show a0001c0004t0002 a0001c0006t0001 a0003c0075t0001 a0005c0042t0001 a0025c0101t0001	a0001c0004t0002g0235 a0001c0006t0001g0142 a0001c0006t0001g0143 others(5): Show a0001c0004t0002g0235 a0001c0006t0001g0142 a0001c0006t0001g0143 a0001c0006t0001g0144 a0001c0006t0001g0147 a0003c0075t0001g0090 a0005c0042t0001g0114 a0025c0101t0001g0014	8	306	0.0261	20	c.648 others(37): Show c.6480-635_6480-634insCATAAAATAAAATAAAATAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	47/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94027438	C C	CAGAGCAT others(13): Show CAGAGCATATGACAGAACGAA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	306	0.0033	20	c.453 others(39): Show c.4539+2006_4539+2007insTTCGTTCTGTCATATGCTCT	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	30/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94116968	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp2 NA19011.hp1 NA19011.hp2	a0001 a0035 a0001 a0035	a0001c0003 a0035c0063 a0001c0003 a0035c0063	a0001c0003t0001 a0035c0063t0001 a0001c0003t0001 a0035c0063t0001	a0001c0003t0001g0034 a0035c0063t0001g0033 a0001c0003t0001g0034 a0035c0063t0001g0033	2	306	0.0065	20	c.67- others(35): Show c.67-3922_67-3903dupAAGAAAGAAAGAAAGAAAGA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0328 a0001c0004t0005g0328	1	350	0.0029	20	c.331 others(39): Show c.3315+1037_3315+1038insAAAAAAAAAAAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69273447	C C	CTATTTAT others(13): Show CTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01884.hp2 HG02148.hp2 others(11): Show HG00140.hp1 HG01884.hp2 HG02148.hp2 HG02165.hp2 HG02615.hp1 HG02723.hp1 HG02896.hp1 HG03041.hp2 HG03654.hp2 HG03710.hp2 HG04184.hp1 NA18995.hp1 NA19007.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0008 a0001c0010 others(1): Show a0001c0004 a0001c0008 a0001c0010 a0002c0001	a0001c0004t0005 a0001c0004t0008 a0001c0008t0001 others(4): Show a0001c0004t0005 a0001c0004t0008 a0001c0008t0001 a0001c0008t0019 a0001c0010t0010 a0002c0001t0002 a0002c0001t0024	a0001c0004t0005g0327 a0001c0004t0008g0167 a0001c0008t0001g0080 others(11): Show a0001c0004t0005g0327 a0001c0004t0008g0167 a0001c0008t0001g0080 a0001c0008t0019g0082 a0001c0010t0010g0332 a0001c0010t0010g0333 a0001c0010t0010g0334 a0001c0010t0010g0335 a0002c0001t0002g0235 a0002c0001t0002g0273 a0002c0001t0002g0304 a0002c0001t0002g0307 a0002c0001t0002g0314 a0002c0001t0024g0277	14	350	0.0400	20	c.276 others(37): Show c.2764+492_2764+511dupAATAAATAAATAAATAAATA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	20/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298229	T T	TAGGAAGG others(13): Show TAGGAAGGTAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp1 HG01192.hp1 others(6): Show HG01099.hp1 HG01109.hp1 HG01192.hp1 HG03491.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0022 a0002c0001t0004 a0002c0001t0022	a0002c0001t0004g0170 a0002c0001t0004g0179 a0002c0001t0004g0182 others(6): Show a0002c0001t0004g0170 a0002c0001t0004g0179 a0002c0001t0004g0182 a0002c0001t0004g0183 a0002c0001t0004g0185 a0002c0001t0004g0186 a0002c0001t0004g0187 a0002c0001t0004g0189 a0002c0001t0022g0188	9	350	0.0257	20	c.126 others(37): Show c.1268-871_1268-870insTCCTTCCTTCCTACCTTCCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298229	T T	TAGGTAGG others(13): Show TAGGTAGGTAGGTAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG01257.hp1 others(16): Show HG00558.hp2 HG00609.hp2 HG01257.hp1 HG01516.hp1 HG02622.hp1 HG03195.hp1 HG03669.hp2 HG03704.hp1 HG04204.hp1 HG04228.hp1 NA18967.hp2 NA18973.hp2 NA19007.hp2 NA19009.hp2 NA19063.hp1 NA19066.hp1 NA19070.hp2 NA19078.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0001 a0001c0013t0002 a0001c0002t0001 a0001c0013t0002	a0001c0002t0001g0048 a0001c0002t0001g0055 a0001c0002t0001g0057 others(16): Show a0001c0002t0001g0048 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0070 a0001c0002t0001g0073 a0001c0002t0001g0083 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0115 a0001c0002t0001g0125 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0150 a0001c0013t0002g0056	19	350	0.0543	20	c.126 others(37): Show c.1268-871_1268-870insTCCTTCCTACCTACCTACCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298229	T T	TAGGTAGG others(13): Show TAGGTAGGTAGGTAGGTAGGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 NA18979.hp1 HG01168.hp2 HG01169.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0129 a0001c0006t0001g0110 a0001c0006t0001g0111 a0001c0002t0001g0129 a0001c0006t0001g0110 a0001c0006t0001g0111	3	350	0.0086	20	c.126 others(37): Show c.1268-871_1268-870insTCCTACCTACCTACCTACCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298316	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG01106.hp2 others(16): Show HG00323.hp2 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01243.hp1 HG02486.hp1 HG02572.hp1 HG02698.hp2 HG03471.hp2 HG03491.hp2 HG03704.hp2 HG04204.hp1 NA18947.hp1 NA18972.hp1 NA18983.hp1 NA18989.hp2 NA19003.hp1 NA19066.hp1 NA20752.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0002 a0001c0004 a0001c0008 others(3): Show a0001c0002 a0001c0004 a0001c0008 a0001c0017 a0002c0001 a0012c0020	a0001c0002t0001 a0001c0004t0014 a0001c0008t0001 others(3): Show a0001c0002t0001 a0001c0004t0014 a0001c0008t0001 a0001c0017t0001 a0002c0001t0004 a0012c0020t0004	a0001c0002t0001g0060 a0001c0002t0001g0073 a0001c0002t0001g0075 others(16): Show a0001c0002t0001g0060 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0093 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0118 a0001c0002t0001g0155 a0001c0004t0014g0321 a0001c0008t0001g0049 a0001c0017t0001g0159 a0002c0001t0004g0170 a0002c0001t0004g0184 a0002c0001t0004g0185 a0002c0001t0004g0187 a0002c0001t0004g0190 a0012c0020t0004g0181	19	350	0.0543	20	c.126 others(37): Show c.1268-977_1268-958dupTCCTTCCTTCCTTCCTTCCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69086486	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02135.hp2 NA18942.hp2 others(5): Show HG01884.hp2 HG02135.hp2 NA18942.hp2 NA18948.hp2 NA18993.hp1 NA19007.hp2 NA19068.hp2 NA20905.hp2	a0002 a0022 a0002 a0022	a0002c0002 a0022c0026 a0002c0002 a0022c0026	a0002c0002t0002 a0022c0026t0002 a0002c0002t0002 a0022c0026t0002	a0002c0002t0002g0180 a0002c0002t0002g0192 a0002c0002t0002g0195 others(5): Show a0002c0002t0002g0180 a0002c0002t0002g0192 a0002c0002t0002g0195 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0224 a0002c0002t0002g0244 a0022c0026t0002g0106	8	326	0.0245	20	c.393 others(37): Show c.3937+112_3937+131dupATATATATATATATATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	30/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69109203	A A	ATGTTTAA others(13): Show ATGTTTAAACCAAAGGGAAGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00733.hp1 others(82): Show HG00609.hp1 HG00639.hp2 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01361.hp1 HG01433.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02148.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18940.hp2 NA18945.hp1 NA18959.hp1 NA18965.hp2 NA18974.hp1 NA18985.hp2 NA18989.hp2 NA18993.hp2 NA19000.hp1 NA19002.hp2 NA19030.hp2 NA19060.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19086.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0003 a0004 a0005 others(9): Show a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0012 a0013 a0016 a0017 a0018	a0003c0003 a0004c0004 a0005c0005 others(9): Show a0003c0003 a0004c0004 a0005c0005 a0006c0031 a0008c0008 a0009c0011 a0010c0012 a0012c0030 a0013c0016 a0016c0020 a0017c0022 a0018c0021	a0003c0003t0001 a0004c0004t0002 a0005c0005t0001 others(10): Show a0003c0003t0001 a0004c0004t0002 a0005c0005t0001 a0005c0005t0002 a0006c0031t0001 a0008c0008t0002 a0009c0011t0001 a0010c0012t0002 a0012c0030t0002 a0013c0016t0001 a0016c0020t0001 a0017c0022t0001 a0018c0021t0001	a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0029 others(69): Show a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0281 a0004c0004t0002g0006 a0004c0004t0002g0019 a0004c0004t0002g0020 a0004c0004t0002g0032 a0004c0004t0002g0132 a0004c0004t0002g0137 a0004c0004t0002g0138 a0004c0004t0002g0140 a0004c0004t0002g0142 a0004c0004t0002g0143 a0004c0004t0002g0144 a0004c0004t0002g0145 a0004c0004t0002g0146 a0004c0004t0002g0147 a0004c0004t0002g0148 a0004c0004t0002g0149 a0004c0004t0002g0150 a0004c0004t0002g0151 a0004c0004t0002g0152 a0004c0004t0002g0155 a0005c0005t0001g0159 a0005c0005t0001g0160 a0005c0005t0002g0007 a0005c0005t0002g0125 a0005c0005t0002g0126 a0005c0005t0002g0127 a0005c0005t0002g0128 a0005c0005t0002g0129 a0005c0005t0002g0130 a0005c0005t0002g0133 a0005c0005t0002g0134 a0005c0005t0002g0153 a0005c0005t0002g0154 a0005c0005t0002g0156 a0005c0005t0002g0157 a0005c0005t0002g0158 a0005c0005t0002g0162 a0006c0031t0001g0255 a0008c0008t0002g0018 a0008c0008t0002g0135 a0008c0008t0002g0136 a0009c0011t0001g0042 a0009c0011t0001g0043 a0010c0012t0002g0139 a0010c0012t0002g0141 a0012c0030t0002g0131 a0013c0016t0001g0161 a0016c0020t0001g0266 a0017c0022t0001g0275 a0018c0021t0001g0274	85	326	0.2607	20	c.227 others(39): Show c.2273-1411_2273-1392dupGCTTCCCTTTGGTTTAAACA	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	17/38			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68862565	C C	CCACACAC others(13): Show CCACACACACACAAACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp2 others(103): Show HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01978.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02135.hp2 HG02165.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03579.hp2 HG03831.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18987.hp2 NA18991.hp1 NA18994.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19010.hp2 NA19030.hp1 NA19060.hp2 NA19070.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0026 a0029 a0032	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0023 a0001c0035 a0001c0048 a0001c0050 a0002c0006 a0002c0022 a0002c0034 a0002c0046 a0002c0053 a0003c0007 a0004c0008 a0005c0009 a0006c0014 a0006c0038 a0007c0010 a0009c0032 a0011c0013 a0012c0055 a0014c0057 a0015c0015 a0016c0018 a0017c0024 a0018c0051 a0026c0043 a0029c0028 a0032c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0001c0023t0001 a0001c0035t0001 a0001c0048t0001 a0001c0050t0001 a0002c0006t0001 a0002c0022t0001 a0002c0034t0001 a0002c0046t0001 a0002c0053t0001 a0003c0007t0001 a0004c0008t0005 a0005c0009t0001 a0006c0014t0001 a0006c0038t0001 a0007c0010t0001 a0009c0032t0005 a0011c0013t0001 a0012c0055t0001 a0014c0057t0004 a0015c0015t0001 a0016c0018t0001 a0017c0024t0001 a0018c0051t0004 a0026c0043t0001 a0029c0028t0001 a0032c0016t0001	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0038 others(102): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0160 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0271 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0221 a0001c0001t0002g0264 a0001c0002t0001g0183 a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0064 a0001c0003t0001g0085 a0001c0003t0002g0086 a0001c0003t0002g0100 a0001c0004t0001g0002 a0001c0004t0001g0033 a0001c0004t0001g0037 a0001c0004t0001g0048 a0001c0004t0001g0124 a0001c0004t0001g0128 a0001c0004t0001g0181 a0001c0004t0001g0187 a0001c0004t0001g0188 a0001c0004t0001g0190 a0001c0004t0001g0195 a0001c0004t0001g0196 a0001c0004t0001g0206 a0001c0004t0001g0210 a0001c0004t0001g0214 a0001c0004t0001g0241 a0001c0004t0001g0246 a0001c0005t0001g0146 a0001c0005t0001g0148 a0001c0005t0001g0149 a0001c0023t0001g0269 a0001c0035t0001g0067 a0001c0048t0001g0167 a0001c0050t0001g0194 a0002c0006t0001g0001 a0002c0006t0001g0094 a0002c0006t0001g0161 a0002c0006t0001g0165 a0002c0006t0001g0166 a0002c0006t0001g0201 a0002c0006t0001g0202 a0002c0006t0001g0240 a0002c0022t0001g0136 a0002c0034t0001g0006 a0002c0046t0001g0051 a0002c0053t0001g0049 a0003c0007t0001g0267 a0004c0008t0005g0152 a0005c0009t0001g0106 a0005c0009t0001g0108 a0005c0009t0001g0109 a0005c0009t0001g0111 a0005c0009t0001g0112 a0005c0009t0001g0116 a0006c0014t0001g0054 a0006c0014t0001g0084 a0006c0038t0001g0098 a0007c0010t0001g0134 a0009c0032t0005g0095 a0011c0013t0001g0032 a0011c0013t0001g0092 a0012c0055t0001g0131 a0014c0057t0004g0133 a0015c0015t0001g0012 a0016c0018t0001g0235 a0017c0024t0001g0022 a0018c0051t0004g0122 a0026c0043t0001g0261 a0029c0028t0001g0113 a0032c0016t0001g0062	106	274	0.3869	20	c.55 others(31): Show c.5519_*5520insTGTGTGTTTGTGTGTGTGTG	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		4723		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68893612	C C	CTTCCTTC others(13): Show CTTCCTTCCTTCCTTCATTCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0054 a0006c0014t0001g0054	1	274	0.0037	20	c.303 others(37): Show c.3036+541_3036+560dupAGAATGAAGGAAGGAAGGAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	23/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68935540	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19000.hp2 NA18951.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0039 a0001c0003t0001g0055 a0001c0001t0002g0039 a0001c0003t0001g0055	2	274	0.0073	20	c.466 others(37): Show c.466+1391_466+1410dupTATATATATATATATATATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	5/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944359	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19010.hp1 HG03471.hp1 NA19010.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0029 a0001c0001 a0004c0029	a0001c0001t0001 a0004c0029t0001 a0001c0001t0001 a0004c0029t0001	a0001c0001t0001g0015 a0004c0029t0001g0105 a0001c0001t0001g0015 a0004c0029t0001g0105	2	274	0.0073	20	c.-5- others(35): Show c.-5-2321_-5-2320insGTGTATATATATATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar
ABCA9_chr17_68969488_69065927	69041729	T T	TTATCTAT others(13): Show TTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03490.hp2 HG02080.hp1 HG03490.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0028 a0001c0001 a0002c0028	a0001c0001t0001 a0002c0028t0002 a0001c0001t0001 a0002c0028t0002	a0001c0001t0001g0238 a0002c0028t0002g0081 a0001c0001t0001g0238 a0002c0028t0002g0081	2	312	0.0064	20	c.800 others(37): Show c.800+1740_800+1759dupGATAGATAGATAGATAGATA	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	6/38			chr17	TogoVar
ABCA9_chr17_68969488_69065927	69046901	A A	ATATATAT others(13): Show ATATATATATATATAAAATTT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	312	0.0032	20	c.305 others(37): Show c.305-1566_305-1565insAAATTTTATATATATATATA	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	3/38			chr17	TogoVar
ABCB10_chr1_229511582_229563707	229551988	C C	CCATATGA others(13): Show CCATATGACATGATTCGTATT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp1 HG03471.hp1 others(2): Show HG02965.hp1 HG03041.hp1 HG03471.hp1 HG03579.hp2 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0010 a0002c0003 a0002c0010	a0002c0003t0003 a0002c0003t0007 a0002c0010t0009 a0002c0003t0003 a0002c0003t0007 a0002c0010t0009	a0002c0003t0003g0023 a0002c0003t0003g0028 a0002c0003t0007g0024 others(2): Show a0002c0003t0003g0023 a0002c0003t0003g0028 a0002c0003t0007g0024 a0002c0003t0007g0025 a0002c0010t0009g0034	5	284	0.0176	20	c.518 others(37): Show c.518-2555_518-2554insAATACGAATCATGTCATATG	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	1/12			chr1	TogoVar
ABCB1_chr7_87498017_87605884	87516731	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02257.hp1 HG02615.hp2 others(6): Show HG00639.hp1 HG02257.hp1 HG02615.hp2 NA18906.hp1 NA18952.hp2 NA18970.hp2 NA18977.hp1 NA18988.hp2 NA18990.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0022 a0003c0004 others(1): Show a0001c0001 a0001c0022 a0003c0004 a0004c0007	a0001c0001t0001 a0001c0022t0001 a0003c0004t0002 others(2): Show a0001c0001t0001 a0001c0022t0001 a0003c0004t0002 a0003c0004t0005 a0004c0007t0001	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0022t0001g0268 others(6): Show a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0022t0001g0268 a0003c0004t0002g0048 a0003c0004t0005g0012 a0003c0004t0005g0013 a0003c0004t0005g0016 a0003c0004t0005g0022 a0004c0007t0001g0258	9	352	0.0256	20	c.292 others(35): Show c.2928-86_2928-67dupAAAAAAAAAAAAAAAAAAAA	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	23/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87530838	C C	CAAGAAAG others(13): Show CAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03098.hp1 NA18960.hp1 others(1): Show HG01261.hp2 HG03098.hp1 NA18960.hp1 NA19065.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0108 a0001c0001t0001g0205 a0001c0001t0001g0250 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0205 a0001c0001t0001g0250 a0005c0008t0001g0187	4	352	0.0114	20	c.268 others(37): Show c.2685+436_2685+455dupTCTTTCTTTCTTTCTTTCTT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	21/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87530838	C C	CAAGAAAG others(13): Show CAAGAAAGCAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03490.hp2 NA18973.hp2 others(1): Show HG01433.hp2 HG03490.hp2 NA18973.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0111 a0001c0001t0001g0206 a0002c0002t0001g0105 others(1): Show a0001c0001t0001g0111 a0001c0001t0001g0206 a0002c0002t0001g0105 a0002c0002t0001g0149	4	352	0.0114	20	c.268 others(37): Show c.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	21/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87530838	C C	CAAGAAAG others(13): Show CAAGAAAGCAAGAAAGCAAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	352	0.0028	20	c.268 others(37): Show c.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	21/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87548117	G G	GAGGGGAG others(13): Show GAGGGGAGGGAAGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp1 HG01169.hp1 others(10): Show HG00280.hp1 HG01167.hp1 HG01169.hp1 HG01346.hp1 HG01433.hp1 HG03017.hp2 HG03491.hp2 HG03579.hp2 HG03704.hp1 HG04184.hp1 HG04228.hp1 NA18522.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0010 a0001c0001 a0001c0005 a0002c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0001c0005t0005 a0002c0010t0003	a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0003g0001 others(9): Show a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0003g0001 a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0010g0026 a0001c0001t0015g0028 a0001c0005t0005g0025 a0002c0010t0003g0030	13	352	0.0369	20	c.172 others(39): Show c.1725+1211_1725+1230dupTCCCTCCCCTTCCCTCCCCT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	14/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87548137	A A	AAGGGGAG others(13): Show AAGGGGAGGGGAGGGAAGGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02451.hp1 others(4): Show HG02145.hp1 HG02257.hp1 HG02451.hp1 HG03195.hp1 NA18906.hp1 NA19043.hp2 NA20129.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0001 a0001c0001t0010 a0010c0013t0001 a0001c0001t0001 a0001c0001t0010 a0010c0013t0001	a0001c0001t0001g0051 a0001c0001t0001g0256 a0001c0001t0001g0257 others(4): Show a0001c0001t0001g0051 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0310 a0001c0001t0010g0035 a0010c0013t0001g0189 a0010c0013t0001g0262	7	352	0.0199	20	c.172 others(39): Show c.1725+1210_1725+1211insCCCCTTCCCTCCCCTCCCCT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	14/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87568266	T T	TAATAATA others(13): Show TAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02486.hp2 HG02717.hp1 others(2): Show HG00639.hp2 HG02486.hp2 HG02717.hp1 HG03139.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0087 a0001c0001t0003g0037 a0001c0001t0004g0085 others(2): Show a0001c0001t0001g0087 a0001c0001t0003g0037 a0001c0001t0004g0085 a0001c0001t0004g0088 a0001c0001t0004g0089	5	352	0.0142	20	c.339 others(37): Show c.339-1291_339-1290insTTATTATTATTATTATTATT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	5/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87589805	G G	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0085 a0001c0001t0004g0085	1	352	0.0028	20	c.118 others(37): Show c.118-4145_118-4126dupTCTCTCTCTCTCTCTCTCTC	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	3/27			chr7	TogoVar
ABCB4_chr7_87396696_87480680	87468941	T T	TAAATAAA others(13): Show TAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0023 a0001c0019t0001g0023	1	290	0.0035	20	c.135 others(37): Show c.135+3660_135+3679dupTATTTTATTTTATTTTATTT	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	3/27			chr7	TogoVar
ABCB5_chr7_20610667_20762008	20629145	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0001 a0002c0035t0001	a0002c0035t0001g0070 a0002c0035t0001g0070	1	360	0.0028	20	c.259 others(35): Show c.259+328_259+347dupGTGTGTGTGTGTGTGTGTGT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20665724	A A	AAGATAGA others(13): Show AAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0014 a0016c0021t0014	a0016c0021t0014g0105 a0016c0021t0014g0105	1	360	0.0028	20	c.170 others(39): Show c.1707+7072_1707+7091dupTAGATAGATAGATAGATAGA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20665766	G G	GATAGATA others(13): Show GATAGATAGATAGATAGAGAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0038 a0038	a0038c0049 a0038c0049	a0038c0049t0004 a0038c0049t0004	a0038c0049t0004g0348 a0038c0049t0004g0348	1	360	0.0028	20	c.170 others(39): Show c.1707+7091_1707+7092insTAGATAGATAGATAGAGATA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20711778	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01496.hp2 NA18988.hp1 HG01099.hp2 HG01496.hp2 NA18988.hp1	a0001 a0005 a0013 a0001 a0005 a0013	a0001c0005 a0005c0006 a0013c0023 a0001c0005 a0005c0006 a0013c0023	a0001c0005t0002 a0005c0006t0001 a0013c0023t0001 a0001c0005t0002 a0005c0006t0001 a0013c0023t0001	a0001c0005t0002g0293 a0005c0006t0001g0188 a0013c0023t0001g0213 a0001c0005t0002g0293 a0005c0006t0001g0188 a0013c0023t0001g0213	3	360	0.0083	20	c.242 others(39): Show c.2421+7021_2421+7040dupCTTTCTTTCTTTCTTTCTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20711781	T T	TCTCTCTC others(13): Show TCTCTCTCTCTTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0008 a0009c0018t0008	a0009c0018t0008g0171 a0009c0018t0008g0171	1	360	0.0028	20	c.242 others(39): Show c.2421+6974_2421+6975insCTCTCTCTCTTCTCTCTCTC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27			chr7	TogoVar
ABCB5_chr7_20610667_20762008	20731369	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0004 a0009c0018t0004	a0009c0018t0004g0164 a0009c0018t0004g0164	1	360	0.0028	20	c.286 others(39): Show c.2867+2915_2867+2916insAAAAAAAAAAAAAATATATA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB7_chrX_75046048_75161283	75104047	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00735.hp1 others(4): Show HG00140.hp1 HG00408.hp2 HG00735.hp1 HG02080.hp1 HG03195.hp2 NA18952.hp1 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0005c0008t0017 a0001c0001t0001 a0001c0001t0002 a0005c0008t0017	a0001c0001t0001g0186 a0001c0001t0002g0060 a0001c0001t0002g0074 others(4): Show a0001c0001t0001g0186 a0001c0001t0002g0060 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0083 a0001c0001t0002g0089 a0005c0008t0017g0085	7	232	0.0302	20	c.334 others(37): Show c.334-5006_334-4987dupAAAAAAAAAAAAAAAAAAAA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	3/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75122861	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02135.hp1 HG02165.hp2 others(9): Show HG02074.hp1 HG02135.hp1 HG02165.hp2 HG02258.hp1 HG02615.hp2 HG02922.hp2 NA18612.hp1 NA18970.hp1 NA18990.hp1 NA19000.hp1 NA19006.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0001 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0121 others(9): Show a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0121 a0001c0001t0001g0152 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0192 a0001c0001t0009g0036 a0001c0001t0010g0157	12	232	0.0517	20	c.169 others(37): Show c.169-8050_169-8031dupACACACACACACACACACAC	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	1/15			chrX	TogoVar

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