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
ABCA8_chr17_68862289_68960392	68887911	T T	TATATATA others(3): Show TATATATATCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01258.hp1 HG02135.hp2 others(4): Show HG00438.hp2 HG01258.hp1 HG02135.hp2 HG02165.hp1 HG02523.hp2 HG02602.hp1 NA19083.hp2	a0001 a0001	a0001c0004 a0001c0035 a0001c0004 a0001c0035	a0001c0004t0001 a0001c0035t0001 a0001c0004t0001 a0001c0035t0001	a0001c0004t0001g0002 a0001c0004t0001g0187 a0001c0004t0001g0196 others(4): Show a0001c0004t0001g0002 a0001c0004t0001g0187 a0001c0004t0001g0196 a0001c0004t0001g0206 a0001c0004t0001g0214 a0001c0004t0001g0246 a0001c0035t0001g0067	7	274	0.0256	10	c.314 others(27): Show c.3145-406_3145-405insGGATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68887911	T T	TATATATG others(3): Show TATATATGTCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02615.hp1 HG02647.hp1	a0001 a0029 a0001 a0029	a0001c0001 a0029c0028 a0001c0001 a0029c0028	a0001c0001t0001 a0029c0028t0001 a0001c0001t0001 a0029c0028t0001	a0001c0001t0001g0230 a0029c0028t0001g0113 a0001c0001t0001g0230 a0029c0028t0001g0113	2	274	0.0073	10	c.314 others(27): Show c.3145-406_3145-405insGGACATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68911734	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	274	0.0037	10	c.213 others(29): Show c.2139-3865_2139-3856dupGTGTGTGTGT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	17/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68922194	C C	CTCTTTTT others(3): Show CTCTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	274	0.0037	10	c.150 others(25): Show c.1501+47_1501+48insAAAAAAAAGA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68922194	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18950.hp2 HG00544.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0254 a0001c0001t0001g0256	2	274	0.0073	10	c.150 others(25): Show c.1501+38_1501+47dupAAAAAAAAAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68935262	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02523.hp2 HG02809.hp1 others(4): Show HG02071.hp2 HG02523.hp2 HG02809.hp1 NA18953.hp1 NA18994.hp2 NA19003.hp1 NA19083.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0003 a0001c0004 a0001c0035 others(2): Show a0001c0003 a0001c0004 a0001c0035 a0002c0034 a0013c0056	a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 others(3): Show a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0035t0001 a0002c0034t0001 a0013c0056t0001	a0001c0003t0002g0100 a0001c0003t0003g0097 a0001c0003t0003g0099 others(4): Show a0001c0003t0002g0100 a0001c0003t0003g0097 a0001c0003t0003g0099 a0001c0004t0001g0214 a0001c0035t0001g0067 a0002c0034t0001g0006 a0013c0056t0001g0135	7	274	0.0256	10	c.466 others(27): Show c.466+1679_466+1688dupCACACACACA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	5/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68935540	C C	CTATATAT others(3): Show CTATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG06807.hp2 NA18946.hp2 others(7): Show HG02615.hp2 HG06807.hp2 NA18946.hp2 NA18979.hp1 NA18999.hp2 NA19004.hp1 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19083.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0032	a0001c0001 a0001c0003 a0001c0035 others(4): Show a0001c0001 a0001c0003 a0001c0035 a0003c0007 a0004c0008 a0005c0009 a0032c0016	a0001c0001t0001 a0001c0003t0001 a0001c0035t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0035t0001 a0003c0007t0001 a0004c0008t0001 a0005c0009t0001 a0032c0016t0001	a0001c0001t0001g0017 a0001c0001t0001g0155 a0001c0003t0001g0064 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0155 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0035t0001g0067 a0003c0007t0001g0266 a0004c0008t0001g0115 a0005c0009t0001g0106 a0032c0016t0001g0062	10	274	0.0365	10	c.466 others(27): Show c.466+1401_466+1410dupTATATATATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	5/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944316	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0241 a0001c0004t0001g0241	1	274	0.0037	10	c.-5- others(25): Show c.-5-2287_-5-2278dupTATATATATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944359	T T	TATATACA others(3): Show TATATACATAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03209.hp1 NA18906.hp2 HG02572.hp1 HG03209.hp1 NA18906.hp2	a0001 a0012 a0001 a0012	a0001c0005 a0001c0011 a0012c0055 a0001c0005 a0001c0011 a0012c0055	a0001c0005t0001 a0001c0011t0001 a0012c0055t0001 a0001c0005t0001 a0001c0011t0001 a0012c0055t0001	a0001c0005t0001g0141 a0001c0011t0001g0140 a0012c0055t0001g0131 a0001c0005t0001g0141 a0001c0011t0001g0140 a0012c0055t0001g0131	3	274	0.0110	10	c.-5- others(25): Show c.-5-2321_-5-2320insGTATGTATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944359	T T	TATATATA others(3): Show TATATATACAC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01884.hp1 HG02145.hp2 others(12): Show HG01517.hp2 HG01884.hp1 HG02145.hp2 HG02602.hp1 HG02622.hp2 HG02738.hp2 HG03130.hp1 HG03139.hp2 HG06807.hp2 NA18957.hp2 NA18971.hp1 NA18975.hp2 NA19002.hp2 NA19081.hp1 NA19091.hp2	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0009 a0014 a0019 a0023 a0031	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0017 a0004c0008 a0005c0009 a0009c0032 a0014c0057 a0019c0041 a0023c0047 a0031c0027	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0017t0001 a0004c0008t0001 a0005c0009t0001 a0009c0032t0005 a0014c0057t0004 a0019c0041t0001 a0023c0047t0001 a0031c0027t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0025 others(12): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0002t0001g0027 a0001c0004t0001g0002 a0001c0017t0001g0024 a0004c0008t0001g0115 a0005c0009t0001g0116 a0009c0032t0005g0095 a0014c0057t0004g0133 a0019c0041t0001g0009 a0023c0047t0001g0010 a0031c0027t0001g0107	15	274	0.0547	10	c.-5- others(25): Show c.-5-2321_-5-2320insGTGTATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944359	T T	TATATATA others(3): Show TATATATATAC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	274	0.0037	10	c.-5- others(25): Show c.-5-2321_-5-2320insGTATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68956352	T T	TACACACA others(3): Show TACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01884.hp2 others(26): Show HG00423.hp1 HG00597.hp1 HG01884.hp2 HG02559.hp1 HG02622.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03490.hp2 HG03540.hp1 HG03831.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18950.hp1 NA18965.hp2 NA18968.hp1 NA18971.hp2 NA18978.hp1 NA18994.hp2 NA19003.hp2 NA19010.hp2 NA19063.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0013 a0014 a0016 a0022	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0002c0006 a0003c0007 a0004c0008 a0007c0010 a0013c0056 a0014c0057 a0016c0018 a0022c0020	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0001c0011t0001 a0002c0006t0001 a0003c0007t0001 a0004c0008t0001 a0007c0010t0001 a0013c0056t0001 a0014c0057t0004 a0016c0018t0001 a0022c0020t0001	a0001c0001t0001g0209 a0001c0001t0001g0219 a0001c0001t0001g0224 others(26): Show a0001c0001t0001g0209 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0007g0265 a0001c0002t0001g0242 a0001c0003t0002g0100 a0001c0004t0001g0124 a0001c0005t0001g0142 a0001c0005t0001g0143 a0001c0005t0001g0144 a0001c0005t0001g0146 a0001c0005t0001g0148 a0001c0005t0001g0149 a0001c0005t0001g0150 a0001c0005t0001g0151 a0001c0011t0001g0147 a0002c0006t0001g0202 a0003c0007t0001g0163 a0004c0008t0001g0125 a0004c0008t0001g0126 a0007c0010t0001g0132 a0007c0010t0001g0134 a0013c0056t0001g0135 a0014c0057t0004g0133 a0016c0018t0001g0235 a0022c0020t0001g0145	29	274	0.1058	10	c.-13 others(21): Show c.-1301_-1300insGTGTGTGTGT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		961		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958602	T T	TATAATAT others(3): Show TATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0012 a0012	a0012c0055 a0012c0055	a0012c0055t0001 a0012c0055t0001	a0012c0055t0001g0131 a0012c0055t0001g0131	1	274	0.0037	10	c.-35 others(21): Show c.-3551_-3550insTATATATTAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3211		chr17	TogoVar
ABCA9_chr17_68969488_69065927	68989256	T T	TCTCTCAC others(3): Show TCTCTCACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00642.hp1 others(6): Show HG00140.hp1 HG00639.hp1 HG00642.hp1 HG01074.hp2 HG01255.hp2 HG01978.hp2 HG03927.hp1 HG03942.hp2 NA18982.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0004 a0006c0010 a0002c0002 a0002c0004 a0006c0010	a0002c0002t0002 a0002c0002t0007 a0002c0004t0002 others(1): Show a0002c0002t0002 a0002c0002t0007 a0002c0004t0002 a0006c0010t0002	a0002c0002t0002g0078 a0002c0002t0002g0104 a0002c0002t0002g0125 others(6): Show a0002c0002t0002g0078 a0002c0002t0002g0104 a0002c0002t0002g0125 a0002c0002t0002g0142 a0002c0002t0002g0154 a0002c0002t0007g0132 a0002c0002t0007g0133 a0002c0004t0002g0111 a0006c0010t0002g0155	9	312	0.0289	10	c.395 others(27): Show c.3956-139_3956-138insTGTGTGAGAG	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	30/38			chr17	TogoVar
ABCB10_chr1_229511582_229563707	229529295	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0025 a0002c0003t0007g0025	1	284	0.0035	10	c.164 others(27): Show c.1645+894_1645+903dupTTTTTTTTTT	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	8/12			chr1	TogoVar
ABCB10_chr1_229511582_229563707	229535038	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	284	0.0035	10	c.134 others(29): Show c.1340-3317_1340-3308dupTTTTTTTTTT	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	6/12			chr1	TogoVar
ABCB11_chr2_168915781_169036324	169003319	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0303 a0002c0008t0001g0303	1	306	0.0033	10	c.390 others(27): Show c.390-6598_390-6597insACACACACAC	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	5/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	169003323	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0004 a0002c0010t0004	a0002c0010t0004g0296 a0002c0010t0004g0296	1	306	0.0033	10	c.390 others(27): Show c.390-6611_390-6602dupACACACACAC	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	5/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	169016979	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	306	0.0033	10	c.77- others(23): Show c.77-190_77-181dupGTGTGTGTGT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	2/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	169029724	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19030.hp2 HG02717.hp2 NA19030.hp2	a0001 a0001	a0001c0015 a0001c0039 a0001c0015 a0001c0039	a0001c0015t0009 a0001c0039t0008 a0001c0015t0009 a0001c0039t0008	a0001c0015t0009g0292 a0001c0039t0008g0301 a0001c0015t0009g0292 a0001c0039t0008g0301	2	306	0.0065	10	c.-28 others(27): Show c.-28+1491_-28+1500dupAAAAAAAAAA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	1/27			chr2	TogoVar
ABCB1_chr7_87498017_87605884	87548167	A A	AAGGGAAG others(3): Show AAGGGAAGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00738.hp2 others(50): Show HG00140.hp1 HG00423.hp1 HG00738.hp2 HG01069.hp1 HG01123.hp1 HG01243.hp1 HG01346.hp2 HG01516.hp2 HG01928.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02129.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03139.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18948.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18979.hp1 NA18988.hp1 NA18998.hp1 NA19004.hp2 NA19060.hp2 NA19062.hp1 NA19077.hp1 NA19079.hp1 NA19091.hp1 NA19240.hp2 NA20905.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0011 a0015	a0001c0001 a0001c0005 a0003c0004 others(3): Show a0001c0001 a0001c0005 a0003c0004 a0005c0008 a0011c0027 a0015c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0003c0004t0002 a0005c0008t0001 a0011c0027t0001 a0015c0021t0001	a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0179 others(50): Show a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0138 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0037 a0001c0001t0006g0263 a0001c0001t0011g0249 a0001c0001t0018g0281 a0001c0001t0021g0342 a0001c0001t0022g0343 a0001c0005t0001g0209 a0001c0005t0001g0210 a0001c0005t0001g0285 a0001c0005t0001g0286 a0001c0005t0001g0293 a0001c0005t0001g0304 a0001c0005t0001g0315 a0001c0005t0002g0300 a0001c0005t0005g0021 a0003c0004t0002g0045 a0005c0008t0001g0215 a0005c0008t0001g0217 a0011c0027t0001g0280 a0015c0021t0001g0308	53	352	0.1506	10	c.172 others(29): Show c.1725+1180_1725+1181insCCCCTTCCCT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	14/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87553339	T T	TTTTGAGA others(3): Show TTTTGAGACAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0017 a0001c0018t0017	a0001c0018t0017g0039 a0001c0018t0017g0039	1	352	0.0028	10	c.999 others(25): Show c.999+421_999+422insCTGTCTCAAA	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	9/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87589805	G G	GGAGAGAG others(3): Show GGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02717.hp2 HG03209.hp2 others(3): Show HG01123.hp2 HG02717.hp2 HG03209.hp2 NA19003.hp1 NA19056.hp2 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0004 a0001c0001 a0001c0006 a0003c0004	a0001c0001t0003 a0001c0006t0001 a0001c0006t0004 others(2): Show a0001c0001t0003 a0001c0006t0001 a0001c0006t0004 a0003c0004t0002 a0003c0004t0005	a0001c0001t0003g0018 a0001c0006t0001g0104 a0001c0006t0004g0103 others(3): Show a0001c0001t0003g0018 a0001c0006t0001g0104 a0001c0006t0004g0103 a0003c0004t0002g0047 a0003c0004t0002g0069 a0003c0004t0005g0017	6	352	0.0171	10	c.118 others(27): Show c.118-4135_118-4126dupTCTCTCTCTC	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	3/27			chr7	TogoVar
ABCB4_chr7_87396696_87480680	87426944	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01255.hp1 HG01884.hp2 others(13): Show HG00639.hp1 HG01255.hp1 HG01884.hp2 HG02258.hp1 HG02486.hp2 HG02717.hp2 HG02895.hp1 HG02970.hp1 HG03017.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp1 NA19043.hp2 NA19086.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004 a0002c0005 a0002c0009 a0002c0023	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0002c0004t0001 a0002c0005t0001 a0002c0009t0001 a0002c0023t0001	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 others(12): Show a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0002t0001g0102 a0001c0002t0001g0110 a0001c0006t0001g0022 a0001c0006t0001g0243 a0001c0006t0001g0244 a0001c0006t0001g0245 a0001c0006t0001g0247 a0001c0006t0001g0249 a0002c0004t0001g0105 a0002c0005t0001g0052 a0002c0009t0001g0237 a0002c0023t0001g0250	16	290	0.0552	10	c.189 others(25): Show c.1894-34_1894-25dupACACACACAC	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	15/27			chr7	TogoVar
ABCB5_chr7_20610667_20762008	20615582	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0115 a0007c0016t0001g0115	1	360	0.0028	10	c.-27 others(19): Show c.-277_-276insGTGTGTGTGT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding		84		chr7	TogoVar
ABCB5_chr7_20610667_20762008	20629145	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00621.hp1 others(46): Show HG00408.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp2 HG01074.hp1 HG01169.hp1 HG01496.hp1 HG01981.hp2 HG02056.hp1 HG02074.hp2 HG02135.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02523.hp2 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG03471.hp1 HG03516.hp2 HG03710.hp2 HG03927.hp2 HG04199.hp1 NA18940.hp1 NA18944.hp1 NA18950.hp1 NA18965.hp1 NA18973.hp2 NA18977.hp2 NA18989.hp2 NA18994.hp1 NA18998.hp2 NA19002.hp2 NA19062.hp1 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19078.hp2 NA19085.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0015 a0020 a0033 a0034 a0035 a0052 a0054	a0001c0001 a0001c0005 a0001c0064 others(24): Show a0001c0001 a0001c0005 a0001c0064 a0001c0077 a0002c0003 a0003c0002 a0003c0010 a0004c0004 a0004c0008 a0005c0006 a0006c0007 a0006c0019 a0007c0011 a0008c0009 a0009c0018 a0009c0020 a0010c0026 a0012c0013 a0015c0040 a0015c0106 a0020c0075 a0020c0076 a0033c0103 a0034c0105 a0035c0104 a0052c0092 a0054c0091	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0064t0001 a0001c0077t0001 a0002c0003t0001 a0003c0002t0001 a0003c0010t0002 a0004c0004t0024 a0004c0008t0002 a0004c0008t0005 a0005c0006t0001 a0006c0007t0001 a0006c0019t0001 a0006c0019t0002 a0007c0011t0004 a0008c0009t0001 a0009c0018t0001 a0009c0018t0008 a0009c0020t0001 a0010c0026t0006 a0012c0013t0001 a0015c0040t0001 a0015c0040t0002 a0015c0106t0002 a0020c0075t0001 a0020c0076t0001 a0033c0103t0019 a0034c0105t0001 a0035c0104t0001 a0052c0092t0005 a0054c0091t0004	a0001c0001t0001g0114 a0001c0001t0001g0138 a0001c0001t0001g0272 others(46): Show a0001c0001t0001g0114 a0001c0001t0001g0138 a0001c0001t0001g0272 a0001c0001t0001g0295 a0001c0001t0001g0331 a0001c0001t0002g0155 a0001c0001t0002g0255 a0001c0001t0002g0301 a0001c0005t0001g0270 a0001c0005t0001g0271 a0001c0064t0001g0246 a0001c0077t0001g0245 a0002c0003t0001g0349 a0003c0002t0001g0195 a0003c0010t0002g0226 a0004c0004t0024g0320 a0004c0008t0002g0273 a0004c0008t0005g0341 a0005c0006t0001g0184 a0005c0006t0001g0336 a0006c0007t0001g0163 a0006c0007t0001g0166 a0006c0007t0001g0167 a0006c0007t0001g0170 a0006c0007t0001g0178 a0006c0007t0001g0179 a0006c0007t0001g0308 a0006c0007t0001g0340 a0006c0019t0001g0165 a0006c0019t0001g0303 a0006c0019t0002g0339 a0007c0011t0004g0067 a0008c0009t0001g0230 a0009c0018t0001g0173 a0009c0018t0001g0177 a0009c0018t0008g0171 a0009c0020t0001g0176 a0010c0026t0006g0083 a0012c0013t0001g0110 a0015c0040t0001g0169 a0015c0040t0002g0168 a0015c0106t0002g0180 a0020c0075t0001g0357 a0020c0076t0001g0269 a0033c0103t0019g0172 a0034c0105t0001g0304 a0035c0104t0001g0174 a0052c0092t0005g0082 a0054c0091t0004g0066	49	360	0.1361	10	c.259 others(25): Show c.259+338_259+347dupGTGTGTGTGT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20634238	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02976.hp1 HG03195.hp2 others(2): Show HG00597.hp2 HG02976.hp1 HG03195.hp2 HG03540.hp1 NA21309.hp2	a0002 a0007 a0023 others(1): Show a0002 a0007 a0023 a0032	a0002c0014 a0002c0048 a0007c0047 others(2): Show a0002c0014 a0002c0048 a0007c0047 a0023c0046 a0032c0108	a0002c0014t0003 a0002c0048t0012 a0007c0047t0004 others(2): Show a0002c0014t0003 a0002c0048t0012 a0007c0047t0004 a0023c0046t0001 a0032c0108t0004	a0002c0014t0003g0049 a0002c0048t0012g0060 a0007c0047t0004g0063 others(2): Show a0002c0014t0003g0049 a0002c0048t0012g0060 a0007c0047t0004g0063 a0023c0046t0001g0089 a0032c0108t0004g0061	5	360	0.0139	10	c.314 others(27): Show c.314+2149_314+2158dupGTGTGTGTGT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	5/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20679471	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp1 HG01109.hp2 others(1): Show HG00099.hp1 HG00673.hp1 HG01109.hp2 NA18939.hp2	a0002 a0005 a0007 a0002 a0005 a0007	a0002c0003 a0005c0006 a0007c0016 a0002c0003 a0005c0006 a0007c0016	a0002c0003t0003 a0005c0006t0001 a0007c0016t0001 a0002c0003t0003 a0005c0006t0001 a0007c0016t0001	a0002c0003t0003g0001 a0002c0003t0003g0045 a0005c0006t0001g0086 others(1): Show a0002c0003t0003g0001 a0002c0003t0003g0045 a0005c0006t0001g0086 a0007c0016t0001g0115	4	360	0.0111	10	c.170 others(29): Show c.1708-2028_1708-2019dupAAAAAAAAAA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20679485	A A	AAAAAAAA others(3): Show AAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0045 a0045	a0045c0051 a0045c0051	a0045c0051t0001 a0045c0051t0001	a0045c0051t0001g0214 a0045c0051t0001g0214	1	360	0.0028	10	c.170 others(29): Show c.1708-2019_1708-2018insAAAAAAAAGA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20681016	T T	TTCTCTCT others(3): Show TTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	360	0.0028	10	c.170 others(27): Show c.1708-486_1708-485insCTCTCTCTCT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20704075	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01175.hp1 HG01952.hp2 others(4): Show HG01071.hp1 HG01175.hp1 HG01952.hp2 HG02055.hp1 HG03098.hp2 HG03516.hp1 HG03516.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0034 a0048 a0049	a0001c0001 a0002c0012 a0004c0004 others(3): Show a0001c0001 a0002c0012 a0004c0004 a0034c0105 a0048c0078 a0049c0095	a0001c0001t0001 a0001c0001t0002 a0002c0012t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0012t0001 a0004c0004t0001 a0034c0105t0001 a0048c0078t0004 a0049c0095t0006	a0001c0001t0001g0329 a0001c0001t0002g0087 a0002c0012t0001g0359 others(4): Show a0001c0001t0001g0329 a0001c0001t0002g0087 a0002c0012t0001g0359 a0004c0004t0001g0133 a0034c0105t0001g0304 a0048c0078t0004g0342 a0049c0095t0006g0129	7	360	0.0194	10	c.233 others(27): Show c.2338-642_2338-633dupTTTTTTTTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	19/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20711776	T T	TTCTCTCT others(3): Show TTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02165.hp2 HG02717.hp2 others(2): Show HG00438.hp2 HG02165.hp2 HG02717.hp2 HG03516.hp1 NA19067.hp1	a0003 a0008 a0017 others(1): Show a0003 a0008 a0017 a0048	a0003c0002 a0003c0053 a0008c0009 others(2): Show a0003c0002 a0003c0053 a0008c0009 a0017c0084 a0048c0078	a0003c0002t0001 a0003c0053t0001 a0008c0009t0001 others(2): Show a0003c0002t0001 a0003c0053t0001 a0008c0009t0001 a0017c0084t0004 a0048c0078t0004	a0003c0002t0001g0321 a0003c0053t0001g0262 a0008c0009t0001g0230 others(2): Show a0003c0002t0001g0321 a0003c0053t0001g0262 a0008c0009t0001g0230 a0017c0084t0004g0122 a0048c0078t0004g0342	5	360	0.0139	10	c.242 others(29): Show c.2421+6974_2421+6975insCTCTCTCTCT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20711778	C C	CTCTCTCT others(3): Show CTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp1 others(25): Show HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG01192.hp1 HG01975.hp2 HG02083.hp1 HG02273.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp1 HG03710.hp1 HG04199.hp1 NA18939.hp2 NA18940.hp1 NA18950.hp2 NA18951.hp2 NA18993.hp1 NA19006.hp2 NA19078.hp2 NA19079.hp1 NA19082.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0007 a0018 a0020 a0022 a0053 a0059	a0001c0001 a0001c0005 a0002c0003 others(10): Show a0001c0001 a0001c0005 a0002c0003 a0002c0012 a0003c0002 a0003c0010 a0006c0007 a0007c0011 a0018c0037 a0020c0075 a0022c0069 a0053c0090 a0059c0066	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0002c0003t0003 a0002c0003t0011 a0002c0012t0001 a0003c0002t0001 a0003c0010t0001 a0006c0007t0001 a0007c0011t0001 a0018c0037t0001 a0020c0075t0001 a0022c0069t0004 a0053c0090t0004 a0059c0066t0004	a0001c0001t0001g0054 a0001c0001t0001g0258 a0001c0001t0001g0263 others(25): Show a0001c0001t0001g0054 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0002g0146 a0001c0005t0001g0267 a0001c0005t0001g0270 a0002c0003t0003g0001 a0002c0003t0003g0016 a0002c0003t0003g0021 a0002c0003t0003g0039 a0002c0003t0003g0044 a0002c0003t0011g0013 a0002c0012t0001g0090 a0002c0012t0001g0121 a0003c0002t0001g0197 a0003c0002t0001g0198 a0003c0002t0001g0208 a0003c0002t0001g0209 a0003c0010t0001g0240 a0006c0007t0001g0340 a0007c0011t0001g0077 a0018c0037t0001g0074 a0020c0075t0001g0357 a0022c0069t0004g0064 a0053c0090t0004g0125 a0059c0066t0004g0253	28	360	0.0778	10	c.242 others(29): Show c.2421+6974_2421+6975insCTCTCTTTCT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20711786	T T	TTCTCTCT others(3): Show TTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02615.hp1 HG02630.hp1 others(10): Show HG02074.hp2 HG02615.hp1 HG02630.hp1 HG02809.hp2 HG03490.hp2 HG03492.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18964.hp1 NA18994.hp1 NA18994.hp2 NA19082.hp2	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0006 a0010 a0011 a0012 a0023	a0001c0001 a0002c0012 a0002c0014 others(7): Show a0001c0001 a0002c0012 a0002c0014 a0005c0015 a0006c0007 a0006c0019 a0010c0031 a0011c0017 a0012c0013 a0023c0087	a0001c0001t0001 a0002c0012t0001 a0002c0014t0001 others(7): Show a0001c0001t0001 a0002c0012t0001 a0002c0014t0001 a0005c0015t0004 a0006c0007t0001 a0006c0019t0001 a0010c0031t0004 a0011c0017t0003 a0012c0013t0001 a0023c0087t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0182 others(10): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0182 a0001c0001t0001g0287 a0002c0012t0001g0088 a0002c0014t0001g0235 a0005c0015t0004g0281 a0006c0007t0001g0308 a0006c0019t0001g0303 a0010c0031t0004g0134 a0011c0017t0003g0004 a0012c0013t0001g0251 a0023c0087t0001g0081	13	360	0.0361	10	c.242 others(29): Show c.2421+6982_2421+6983insCTCTCTCTCT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20712158	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0058 a0058	a0058c0067 a0058c0067	a0058c0067t0006 a0058c0067t0006	a0058c0067t0006g0330 a0058c0067t0006g0330	1	360	0.0028	10	c.242 others(29): Show c.2421+7366_2421+7375dupAAAAAAAAAA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20737157	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0046 a0046	a0046c0057 a0046c0057	a0046c0057t0008 a0046c0057t0008	a0046c0057t0008g0237 a0046c0057t0008g0237	1	360	0.0028	10	c.286 others(29): Show c.2868-1822_2868-1813dupAAAAAAAAAA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20750383	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02451.hp2 NA19240.hp2 HG01981.hp1 HG02451.hp2 NA19240.hp2	a0005 a0060 a0065 a0005 a0060 a0065	a0005c0015 a0060c0065 a0065c0099 a0005c0015 a0060c0065 a0065c0099	a0005c0015t0004 a0060c0065t0006 a0065c0099t0004 a0005c0015t0004 a0060c0065t0006 a0065c0099t0004	a0005c0015t0004g0310 a0060c0065t0006g0189 a0065c0099t0004g0093 a0005c0015t0004g0310 a0060c0065t0006g0189 a0065c0099t0004g0093	3	360	0.0083	10	c.343 others(29): Show c.3430-2949_3430-2940dupCACACACACA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB7_chrX_75046048_75161283	75047062	G G	GACACACA others(3): Show GACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG04184.hp1 others(2): Show HG01884.hp1 HG02280.hp2 HG04184.hp1 NA18989.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0002c0002t0003 a0001c0001t0001 a0001c0001t0011 a0002c0002t0003	a0001c0001t0001g0158 a0001c0001t0001g0199 a0001c0001t0011g0228 others(2): Show a0001c0001t0001g0158 a0001c0001t0001g0199 a0001c0001t0011g0228 a0002c0002t0003g0012 a0002c0002t0003g0014	5	232	0.0216	10	c.63 others(21): Show c.6307_*6308insGTGTGTGTGT	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding		3985		chrX	TogoVar
ABCB7_chrX_75046048_75161283	75094019	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02135.hp1 HG03130.hp1 others(2): Show HG01981.hp2 HG02135.hp1 HG03130.hp1 HG04115.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0001c0001t0001 a0001c0001t0002 a0002c0002t0003	a0001c0001t0001g0024 a0001c0001t0001g0139 a0001c0001t0001g0169 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0139 a0001c0001t0001g0169 a0001c0001t0002g0110 a0002c0002t0003g0013	5	232	0.0216	10	c.453 others(27): Show c.453+4913_453+4922dupATATATATAT	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	4/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75104047	G G	GTTTTTTT others(3): Show GTTTTTTTGTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0003 a0003c0005t0001g0003	1	232	0.0043	10	c.334 others(27): Show c.334-4987_334-4986insAACAAAAAAA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	3/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75104047	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02559.hp1 HG03831.hp2 others(5): Show HG02129.hp1 HG02559.hp1 HG03831.hp2 NA18612.hp1 NA18985.hp1 NA19067.hp1 NA19070.hp1 NA19083.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0004c0007t0005	a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0118 others(5): Show a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0118 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0007g0204 a0001c0001t0011g0023 a0004c0007t0005g0174	8	232	0.0345	10	c.334 others(27): Show c.334-4996_334-4987dupAAAAAAAAAA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	3/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75122861	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG01952.hp1 others(13): Show HG01081.hp2 HG01109.hp1 HG01952.hp1 HG01981.hp2 HG02896.hp2 HG03209.hp1 HG03704.hp1 NA18945.hp1 NA18953.hp1 NA18994.hp1 NA19004.hp1 NA19011.hp1 NA19070.hp1 NA19076.hp1 NA19086.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0118 a0001c0001t0001g0120 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0007g0215 a0001c0001t0016g0217 a0003c0005t0001g0003	16	232	0.0690	10	c.169 others(27): Show c.169-8040_169-8031dupACACACACAC	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	1/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75153756	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(109): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01433.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02523.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03041.hp1 HG03195.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18965.hp1 NA18970.hp1 NA18977.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA19000.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19055.hp1 NA19060.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19079.hp1 NA19082.hp1 NA19086.hp1 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0006 a0004c0007 others(1): Show a0001c0001 a0001c0006 a0004c0007 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0006t0002 a0004c0007t0005 a0005c0008t0017	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 others(109): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0229 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0004g0067 a0001c0001t0004g0078 a0001c0001t0004g0082 a0001c0001t0004g0099 a0001c0001t0005g0177 a0001c0001t0005g0196 a0001c0001t0009g0027 a0001c0001t0009g0036 a0001c0001t0009g0185 a0001c0001t0010g0201 a0001c0001t0011g0197 a0001c0001t0011g0228 a0001c0001t0015g0037 a0001c0001t0015g0038 a0001c0001t0017g0086 a0001c0001t0019g0178 a0001c0001t0022g0058 a0001c0006t0002g0046 a0004c0007t0005g0174 a0005c0008t0017g0085	112	232	0.4828	10	c.168 others(27): Show c.168+2348_168+2349insTATATATATA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	1/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75153773	T T	TATATATA others(3): Show TATATATATAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	232	0.0043	10	c.168 others(27): Show c.168+2331_168+2332insTTATATATAT	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	1/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75156926	C C	CACACACA others(3): Show CACACACACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02647.hp1 others(3): Show HG01884.hp2 HG02572.hp1 HG02647.hp1 HG02723.hp2 HG02886.hp2 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0018 a0001c0003t0006 a0001c0003t0018	a0001c0003t0006g0220 a0001c0003t0006g0221 a0001c0003t0006g0222 others(3): Show a0001c0003t0006g0220 a0001c0003t0006g0221 a0001c0003t0006g0222 a0001c0003t0006g0223 a0001c0003t0006g0224 a0001c0003t0018g0219	6	232	0.0259	10	c.-65 others(19): Show c.-655_-654insCTGTGTGTGT	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding		644		chrX	TogoVar
ABCC1_chr16_15944616_16148053	15944690	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02622.hp2 HG02630.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0005 a0001c0008t0009 a0001c0005t0005 a0001c0008t0009	a0001c0005t0005g0119 a0001c0008t0009g0020 a0001c0005t0005g0119 a0001c0008t0009g0020	2	249	0.0080	10	c.-50 others(21): Show c.-5062_-5061insGTGTGTGTGT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4925		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15944715	G G	GTATATAT others(3): Show GTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0012 a0001c0037t0012	a0001c0037t0012g0041 a0001c0037t0012g0041	1	249	0.0040	10	c.-50 others(21): Show c.-5037_-5036insTATATATATA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4900		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15944717	G G	GTATATAT others(3): Show GTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0036 a0001c0003t0026g0036	1	249	0.0040	10	c.-50 others(21): Show c.-5035_-5034insTATATATATA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4898		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15944717	G G	GTGTATAT others(3): Show GTGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03098.hp2 NA18952.hp1 HG02486.hp1 HG03098.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0001t0005 a0001c0005t0001 a0001c0001t0004 a0001c0001t0005 a0001c0005t0001	a0001c0001t0004g0118 a0001c0001t0005g0107 a0001c0005t0001g0065 a0001c0001t0004g0118 a0001c0001t0005g0107 a0001c0005t0001g0065	3	249	0.0121	10	c.-50 others(21): Show c.-5035_-5034insTGTATATATA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4898		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15944717	G G	GTGTGTGT others(3): Show GTGTGTGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	249	0.0040	10	c.-50 others(21): Show c.-5035_-5034insTGTGTGTATA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4898		chr16	TogoVar

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