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
ABCA5_chr17_69239311_69332133	69282983	T T	TGTGGAAG others(8): Show TGTGGAAGGATGGGTG	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	350	0.0029	15	c.239 others(32): Show c.2392+969_2392+970insCACCCATCCTTCCAC	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	18/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303783	A A	ATATATAT others(8): Show ATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0334 a0001c0010t0010g0334	1	350	0.0029	15	c.931 others(30): Show c.931-878_931-877insGTATATATATATATA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69146164	A A	AATATATA others(8): Show AATATATATACGGACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01106.hp1 others(5): Show HG01069.hp1 HG01071.hp2 HG01106.hp1 HG02647.hp1 HG02922.hp1 HG03471.hp2 NA19043.hp2 NA20129.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0008 a0006c0007t0001g0021 a0006c0007t0001g0022 others(2): Show a0006c0007t0001g0008 a0006c0007t0001g0021 a0006c0007t0001g0022 a0006c0007t0001g0166 a0006c0007t0001g0167	8	326	0.0245	15	c.-44 others(26): Show c.-4466_-4465insAGTCCGTATATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		4270		chr17	TogoVar
ABCA6_chr17_69073702_69146895	69146239	T T	TATATATA others(8): Show TATATATATATACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02055.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0171 a0002c0002t0001g0023 a0002c0002t0001g0171	2	326	0.0061	15	c.-45 others(26): Show c.-4541_-4540insTCCGTATATATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		4345		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68918930	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0123 a0007c0010t0001g0123	1	274	0.0037	15	c.178 others(32): Show c.1788+356_1788+370dupTTTTTTTTTTTTTTT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	14/39			chr17	TogoVar
ABCB10_chr1_229511582_229563707	229529295	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp1 HG02280.hp1 HG03098.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0026 a0007c0008t0003g0027 a0007c0008t0003g0026 a0007c0008t0003g0027	2	284	0.0070	15	c.164 others(32): Show c.1645+889_1645+903dupTTTTTTTTTTTTTTT	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	8/12			chr1	TogoVar
ABCB10_chr1_229511582_229563707	229550525	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02896.hp1 others(3): Show HG02630.hp1 HG02647.hp1 HG02896.hp1 HG03041.hp1 HG03195.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0012 a0002c0003 a0001c0002 a0001c0012 a0002c0003	a0001c0002t0001 a0001c0012t0001 a0002c0003t0003 a0001c0002t0001 a0001c0012t0001 a0002c0003t0003	a0001c0002t0001g0038 a0001c0002t0001g0054 a0001c0012t0001g0039 others(3): Show a0001c0002t0001g0038 a0001c0002t0001g0054 a0001c0012t0001g0039 a0002c0003t0003g0023 a0002c0003t0003g0031 a0002c0003t0003g0032	6	284	0.0211	15	c.518 others(32): Show c.518-1106_518-1092dupTTTTTTTTTTTTTTT	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	1/12			chr1	TogoVar
ABCB11_chr2_168915781_169036324	168986798	A A	ATGAGACA others(8): Show ATGAGACATGGATAAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG02486.hp1 others(11): Show HG00323.hp2 HG00733.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02683.hp2 HG02922.hp1 HG03098.hp1 HG03486.hp2 HG06807.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0006 a0007 a0016	a0002c0052 a0002c0055 a0002c0061 others(7): Show a0002c0052 a0002c0055 a0002c0061 a0003c0050 a0004c0009 a0004c0023 a0004c0058 a0006c0047 a0007c0053 a0016c0057	a0002c0052t0026 a0002c0055t0018 a0002c0061t0005 others(10): Show a0002c0052t0026 a0002c0055t0018 a0002c0061t0005 a0003c0050t0009 a0004c0009t0004 a0004c0009t0005 a0004c0009t0007 a0004c0009t0022 a0004c0023t0001 a0004c0058t0001 a0006c0047t0007 a0007c0053t0016 a0016c0057t0016	a0002c0052t0026g0219 a0002c0055t0018g0099 a0002c0061t0005g0220 others(11): Show a0002c0052t0026g0219 a0002c0055t0018g0099 a0002c0061t0005g0220 a0003c0050t0009g0100 a0004c0009t0004g0101 a0004c0009t0005g0095 a0004c0009t0007g0094 a0004c0009t0022g0092 a0004c0023t0001g0096 a0004c0023t0001g0097 a0004c0058t0001g0098 a0006c0047t0007g0139 a0007c0053t0016g0059 a0016c0057t0016g0093	14	306	0.0458	15	c.909 others(30): Show c.909-529_909-515dupGTTATCCATGTCTCA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	9/27			chr2	TogoVar
ABCB1_chr7_87498017_87605884	87589836	G G	GAGAGAGA others(8): Show GAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01358.hp2 HG02647.hp1 others(2): Show HG01081.hp1 HG01358.hp2 HG02647.hp1 HG02717.hp1 HG02895.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0007 a0001c0001 a0003c0004 a0004c0007	a0001c0001t0001 a0001c0001t0006 a0003c0004t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0003c0004t0002 a0004c0007t0001	a0001c0001t0001g0065 a0001c0001t0001g0087 a0001c0001t0006g0066 others(2): Show a0001c0001t0001g0065 a0001c0001t0001g0087 a0001c0001t0006g0066 a0003c0004t0002g0046 a0004c0007t0001g0102	5	352	0.0142	15	c.118 others(32): Show c.118-4157_118-4156insTCTCTCTCTCTCTCT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	3/27			chr7	TogoVar
ABCB5_chr7_20610667_20762008	20665749	A A	AGATAGAT others(8): Show AGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0001 a0013c0023t0001	a0013c0023t0001g0219 a0013c0023t0001g0219	1	360	0.0028	15	c.170 others(34): Show c.1707+7074_1707+7088dupGATAGATAGATAGAT	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(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00609.hp2 others(84): Show HG00408.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01106.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02683.hp2 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03579.hp2 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18940.hp2 NA18950.hp2 NA18961.hp2 NA18965.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19030.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19078.hp1 NA19078.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0017 a0020 a0027 a0044 a0053 a0057 a0060	a0001c0001 a0001c0005 a0002c0003 others(30): Show a0001c0001 a0001c0005 a0002c0003 a0002c0012 a0002c0014 a0002c0035 a0003c0002 a0003c0010 a0004c0004 a0004c0008 a0005c0006 a0006c0007 a0006c0019 a0007c0011 a0007c0016 a0008c0009 a0009c0018 a0009c0020 a0010c0094 a0011c0017 a0012c0013 a0012c0080 a0013c0022 a0013c0023 a0015c0040 a0017c0085 a0017c0086 a0020c0075 a0027c0028 a0044c0056 a0053c0090 a0057c0068 a0060c0065	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0002c0003t0003 a0002c0003t0007 a0002c0012t0001 a0002c0014t0003 a0002c0014t0011 a0002c0035t0005 a0003c0002t0001 a0003c0002t0002 a0003c0002t0015 a0003c0010t0001 a0003c0010t0002 a0004c0004t0001 a0004c0004t0002 a0004c0008t0001 a0004c0008t0002 a0005c0006t0001 a0006c0007t0001 a0006c0019t0001 a0006c0019t0002 a0007c0011t0001 a0007c0011t0004 a0007c0016t0006 a0008c0009t0001 a0008c0009t0002 a0009c0018t0001 a0009c0020t0001 a0010c0094t0004 a0011c0017t0003 a0011c0017t0007 a0012c0013t0001 a0012c0013t0002 a0012c0080t0001 a0013c0022t0001 a0013c0022t0021 a0013c0023t0001 a0015c0040t0001 a0017c0085t0004 a0017c0086t0004 a0020c0075t0001 a0027c0028t0001 a0044c0056t0001 a0053c0090t0004 a0057c0068t0001 a0060c0065t0006	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 others(84): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0272 a0001c0001t0001g0284 a0001c0001t0001g0302 a0001c0001t0001g0331 a0001c0001t0002g0255 a0001c0001t0002g0296 a0001c0005t0001g0270 a0001c0005t0001g0271 a0001c0005t0001g0285 a0002c0003t0003g0021 a0002c0003t0003g0023 a0002c0003t0003g0028 a0002c0003t0003g0032 a0002c0003t0003g0035 a0002c0003t0003g0040 a0002c0003t0003g0045 a0002c0003t0003g0047 a0002c0003t0003g0048 a0002c0003t0007g0033 a0002c0012t0001g0088 a0002c0012t0001g0121 a0002c0014t0003g0002 a0002c0014t0011g0007 a0002c0035t0005g0091 a0003c0002t0001g0197 a0003c0002t0001g0201 a0003c0002t0001g0204 a0003c0002t0001g0207 a0003c0002t0001g0210 a0003c0002t0001g0236 a0003c0002t0001g0321 a0003c0002t0001g0322 a0003c0002t0001g0326 a0003c0002t0001g0338 a0003c0002t0002g0191 a0003c0002t0002g0323 a0003c0002t0015g0318 a0003c0010t0001g0240 a0003c0010t0002g0226 a0003c0010t0002g0328 a0004c0004t0001g0190 a0004c0004t0001g0319 a0004c0004t0002g0085 a0004c0004t0002g0290 a0004c0008t0001g0274 a0004c0008t0002g0286 a0005c0006t0001g0154 a0005c0006t0001g0249 a0006c0007t0001g0167 a0006c0007t0001g0170 a0006c0007t0001g0178 a0006c0007t0001g0179 a0006c0007t0001g0307 a0006c0007t0001g0308 a0006c0019t0001g0165 a0006c0019t0001g0303 a0006c0019t0002g0339 a0007c0011t0001g0078 a0007c0011t0004g0124 a0007c0016t0006g0057 a0008c0009t0001g0206 a0008c0009t0001g0216 a0008c0009t0001g0221 a0008c0009t0002g0222 a0009c0018t0001g0177 a0009c0020t0001g0176 a0010c0094t0004g0068 a0011c0017t0003g0050 a0011c0017t0007g0042 a0012c0013t0001g0110 a0012c0013t0002g0109 a0012c0080t0001g0104 a0013c0022t0001g0259 a0013c0022t0021g0202 a0013c0023t0001g0219 a0015c0040t0001g0169 a0017c0085t0004g0123 a0017c0086t0004g0128 a0020c0075t0001g0357 a0027c0028t0001g0343 a0044c0056t0001g0200 a0053c0090t0004g0125 a0057c0068t0001g0256 a0060c0065t0006g0189	87	360	0.2417	15	c.233 others(32): Show c.2338-647_2338-633dupTTTTTTTTTTTTTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	19/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20731355	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18612.hp2 NA18950.hp1 others(1): Show HG02135.hp2 NA18612.hp2 NA18950.hp1 NA18959.hp2	a0009 a0013 a0033 others(1): Show a0009 a0013 a0033 a0046	a0009c0018 a0013c0022 a0033c0103 others(1): Show a0009c0018 a0013c0022 a0033c0103 a0046c0057	a0009c0018t0008 a0013c0022t0021 a0033c0103t0019 others(1): Show a0009c0018t0008 a0013c0022t0021 a0033c0103t0019 a0046c0057t0008	a0009c0018t0008g0171 a0013c0022t0021g0202 a0033c0103t0019g0172 others(1): Show a0009c0018t0008g0171 a0013c0022t0021g0202 a0033c0103t0019g0172 a0046c0057t0008g0237	4	360	0.0111	15	c.286 others(34): Show c.2867+2901_2867+2915dupAAAAAAAAAAAAAAA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20733182	C C	CATTATTA others(8): Show CATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18612.hp2 NA18949.hp2 others(1): Show HG02135.hp2 NA18612.hp2 NA18949.hp2 NA18959.hp2	a0009 a0013 a0046 others(1): Show a0009 a0013 a0046 a0061	a0009c0018 a0013c0022 a0046c0057 others(1): Show a0009c0018 a0013c0022 a0046c0057 a0061c0081	a0009c0018t0008 a0013c0022t0021 a0046c0057t0008 others(1): Show a0009c0018t0008 a0013c0022t0021 a0046c0057t0008 a0061c0081t0008	a0009c0018t0008g0171 a0013c0022t0021g0202 a0046c0057t0008g0237 others(1): Show a0009c0018t0008g0171 a0013c0022t0021g0202 a0046c0057t0008g0237 a0061c0081t0008g0111	4	360	0.0111	15	c.286 others(34): Show c.2867+4738_2867+4752dupTTATTATTATTATTA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20758545	A A	ATGACCTC others(8): Show ATGACCTCAGGTGATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0018 a0018	a0018c0072 a0018c0072	a0018c0072t0013 a0018c0072t0013	a0018c0072t0013g0056 a0018c0072t0013g0056	1	360	0.0028	15	c.29 others(26): Show c.2921_*2922insTGACCTCAGGTGATC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding		1538		chr7	TogoVar
ABCB7_chrX_75046048_75161283	75104047	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03239.hp2 NA18967.hp1 others(1): Show HG01071.hp1 HG03239.hp2 NA18967.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0188 others(1): Show a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0005g0135	4	232	0.0172	15	c.334 others(32): Show c.334-5001_334-4987dupAAAAAAAAAAAAAAA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	3/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75122861	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	232	0.0043	15	c.169 others(32): Show c.169-8031_169-8030insACACACACACACACA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	1/15			chrX	TogoVar
ABCC11_chr16_48160773_48252539	48226072	C C	CATTATTA others(8): Show CATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02145.hp2 others(9): Show HG01109.hp2 HG01884.hp1 HG02145.hp2 HG02486.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 NA19043.hp1	a0004 a0009 a0011 a0004 a0009 a0011	a0004c0009 a0009c0010 a0011c0011 a0004c0009 a0009c0010 a0011c0011	a0004c0009t0001 a0004c0009t0010 a0009c0010t0008 others(1): Show a0004c0009t0001 a0004c0009t0010 a0009c0010t0008 a0011c0011t0002	a0004c0009t0001g0126 a0004c0009t0001g0128 a0004c0009t0001g0129 others(8): Show a0004c0009t0001g0126 a0004c0009t0001g0128 a0004c0009t0001g0129 a0004c0009t0010g0127 a0004c0009t0010g0130 a0009c0010t0008g0025 a0009c0010t0008g0035 a0009c0010t0008g0036 a0011c0011t0002g0005 a0011c0011t0002g0124 a0011c0011t0002g0125	12	158	0.0760	15	c.396 others(32): Show c.396-1658_396-1644dupAATAATAATAATAAT	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	4/29			chr16	TogoVar
ABCC12_chr16_48075882_48160993	48140243	T T	TAAGGATT others(8): Show TAAGGATTTTATTGCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02109.hp2 HG02622.hp2 others(15): Show HG01496.hp2 HG02109.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 NA20300.hp1 NA20300.hp2	a0006 a0008 a0009 others(1): Show a0006 a0008 a0009 a0024	a0006c0010 a0006c0021 a0006c0029 others(4): Show a0006c0010 a0006c0021 a0006c0029 a0006c0030 a0008c0008 a0009c0009 a0024c0028	a0006c0010t0002 a0006c0021t0002 a0006c0029t0018 others(6): Show a0006c0010t0002 a0006c0021t0002 a0006c0029t0018 a0006c0030t0001 a0008c0008t0009 a0008c0008t0010 a0008c0008t0015 a0009c0009t0001 a0024c0028t0002	a0006c0010t0002g0023 a0006c0010t0002g0024 a0006c0010t0002g0027 others(13): Show a0006c0010t0002g0023 a0006c0010t0002g0024 a0006c0010t0002g0027 a0006c0021t0002g0025 a0006c0021t0002g0026 a0006c0029t0018g0029 a0006c0030t0001g0119 a0008c0008t0009g0005 a0008c0008t0010g0014 a0008c0008t0010g0015 a0008c0008t0015g0016 a0009c0009t0001g0003 a0009c0009t0001g0017 a0009c0009t0001g0019 a0009c0009t0001g0020 a0024c0028t0002g0018	18	134	0.1343	15	c.657 others(30): Show c.657+443_657+444insGGCAATAAAATCCTT	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	6/30			chr16	TogoVar
ABCC12_chr16_48075882_48160993	48149649	A A	ACAGATGT others(8): Show ACAGATGTCCATTAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG01891.hp2 others(18): Show HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03579.hp1 NA18906.hp2 NA20129.hp1	a0004 a0013 a0014 others(6): Show a0004 a0013 a0014 a0015 a0016 a0017 a0020 a0022 a0023	a0004c0007 a0004c0013 a0013c0014 others(7): Show a0004c0007 a0004c0013 a0013c0014 a0014c0016 a0015c0015 a0016c0017 a0017c0011 a0020c0023 a0022c0025 a0023c0022	a0004c0007t0003 a0004c0013t0003 a0013c0014t0001 others(7): Show a0004c0007t0003 a0004c0013t0003 a0013c0014t0001 a0014c0016t0005 a0015c0015t0008 a0016c0017t0002 a0017c0011t0006 a0020c0023t0006 a0022c0025t0001 a0023c0022t0012	a0004c0007t0003g0101 a0004c0007t0003g0102 a0004c0007t0003g0103 others(17): Show a0004c0007t0003g0101 a0004c0007t0003g0102 a0004c0007t0003g0103 a0004c0007t0003g0104 a0004c0007t0003g0105 a0004c0007t0003g0116 a0004c0013t0003g0108 a0004c0013t0003g0114 a0013c0014t0001g0106 a0013c0014t0001g0107 a0014c0016t0005g0004 a0015c0015t0008g0041 a0015c0015t0008g0112 a0016c0017t0002g0109 a0016c0017t0002g0111 a0017c0011t0006g0115 a0017c0011t0006g0117 a0020c0023t0006g0037 a0022c0025t0001g0110 a0023c0022t0012g0028	21	134	0.1567	15	c.-50 others(32): Show c.-50-3176_-50-3175insATTAATGGACATCTG	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	2/30			chr16	TogoVar
ABCC1_chr16_15944616_16148053	15949611	G G	GCGCCGCC others(8): Show GCGCCGCCGCCGCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(6): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG02015.hp1 HG02129.hp1 HG02148.hp1 NA18944.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0028 a0002c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0003 a0001c0006t0002 a0001c0009t0003 a0001c0028t0002 a0002c0010t0002	a0001c0001t0001g0070 a0001c0001t0003g0071 a0001c0001t0008g0054 others(6): Show a0001c0001t0001g0070 a0001c0001t0003g0071 a0001c0001t0008g0054 a0001c0001t0008g0057 a0001c0002t0003g0014 a0001c0006t0002g0073 a0001c0009t0003g0063 a0001c0028t0002g0066 a0002c0010t0002g0076	9	249	0.0361	15	c.-14 others(24): Show c.-141_-140insCGCCGCCGCCGCCGC	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15982803	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00621.hp1 others(22): Show HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00738.hp1 HG01071.hp2 HG01517.hp1 HG01928.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02129.hp2 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp2 NA18944.hp2 NA19009.hp1 NA19068.hp2 NA19074.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0014 a0001c0029	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(17): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0008 a0001c0003t0025 a0001c0004t0002 a0001c0004t0028 a0001c0005t0003 a0001c0005t0004 a0001c0005t0022 a0001c0006t0002 a0001c0009t0023 a0001c0013t0002 a0001c0014t0003 a0001c0014t0007 a0001c0029t0002	a0001c0001t0001g0213 a0001c0002t0001g0050 a0001c0002t0003g0014 others(22): Show a0001c0001t0001g0213 a0001c0002t0001g0050 a0001c0002t0003g0014 a0001c0002t0003g0059 a0001c0002t0003g0190 a0001c0002t0007g0037 a0001c0003t0001g0164 a0001c0003t0001g0189 a0001c0003t0004g0188 a0001c0003t0004g0230 a0001c0003t0007g0135 a0001c0003t0008g0227 a0001c0003t0025g0141 a0001c0004t0002g0200 a0001c0004t0002g0205 a0001c0004t0028g0170 a0001c0005t0003g0153 a0001c0005t0004g0169 a0001c0005t0022g0243 a0001c0006t0002g0244 a0001c0009t0023g0145 a0001c0013t0002g0156 a0001c0014t0003g0149 a0001c0014t0007g0154 a0001c0029t0002g0173	25	249	0.1004	15	c.49- others(32): Show c.49-25006_49-24992dupAAAAAAAAAAAAAAA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16006853	C C	CGGTGGGC others(8): Show CGGTGGGCGGGTGGCG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0048 a0001c0004t0013g0048	1	249	0.0040	15	c.49- others(28): Show c.49-958_49-957insGCGGGTGGCGGGTGG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16031901	T T	TGGGGCTC others(8): Show TGGGGCTCACATCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(52): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG01071.hp1 HG01081.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01978.hp1 HG01981.hp2 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02523.hp1 HG02622.hp1 HG02717.hp1 HG02735.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03139.hp2 HG03239.hp2 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG04199.hp1 HG04199.hp2 NA18944.hp2 NA18978.hp2 NA18998.hp2 NA19009.hp1 NA19011.hp2 NA19056.hp1 NA19074.hp1 NA19082.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0015 a0001c0030 a0003c0024	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0008 a0001c0003t0014 a0001c0003t0025 a0001c0004t0002 a0001c0004t0013 a0001c0004t0028 a0001c0015t0013 a0001c0030t0001 a0003c0024t0021	a0001c0001t0001g0084 a0001c0001t0004g0166 a0001c0001t0004g0240 others(52): Show a0001c0001t0001g0084 a0001c0001t0004g0166 a0001c0001t0004g0240 a0001c0001t0006g0167 a0001c0001t0006g0220 a0001c0001t0010g0042 a0001c0001t0010g0043 a0001c0001t0017g0023 a0001c0002t0001g0133 a0001c0002t0001g0139 a0001c0002t0001g0163 a0001c0002t0001g0180 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0003g0014 a0001c0002t0003g0059 a0001c0002t0003g0142 a0001c0002t0003g0190 a0001c0002t0003g0195 a0001c0002t0003g0233 a0001c0002t0004g0010 a0001c0002t0004g0178 a0001c0002t0004g0192 a0001c0002t0004g0204 a0001c0002t0004g0225 a0001c0002t0007g0157 a0001c0003t0001g0152 a0001c0003t0001g0177 a0001c0003t0001g0212 a0001c0003t0001g0218 a0001c0003t0001g0242 a0001c0003t0003g0203 a0001c0003t0004g0188 a0001c0003t0004g0230 a0001c0003t0007g0135 a0001c0003t0008g0227 a0001c0003t0014g0219 a0001c0003t0025g0141 a0001c0004t0002g0136 a0001c0004t0002g0168 a0001c0004t0002g0172 a0001c0004t0002g0198 a0001c0004t0002g0200 a0001c0004t0002g0205 a0001c0004t0002g0206 a0001c0004t0013g0047 a0001c0004t0013g0048 a0001c0004t0028g0170 a0001c0015t0013g0038 a0001c0015t0013g0062 a0001c0030t0001g0181 a0003c0024t0021g0003	55	249	0.2209	15	c.616 others(32): Show c.616-1207_616-1193dupGGGGCTCACATCCTC	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	5/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16143530	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG03098.hp1 HG03195.hp1 others(1): Show HG00609.hp1 HG03098.hp1 HG03195.hp1 NA19043.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0007 a0002c0010 others(1): Show a0001c0001 a0001c0007 a0002c0010 a0006c0019	a0001c0001t0001 a0001c0007t0001 a0002c0010t0002 others(1): Show a0001c0001t0001 a0001c0007t0001 a0002c0010t0002 a0006c0019t0010	a0001c0001t0001g0030 a0001c0007t0001g0026 a0002c0010t0002g0076 others(1): Show a0001c0001t0001g0030 a0001c0007t0001g0026 a0002c0010t0002g0076 a0006c0019t0010g0009	4	249	0.0161	15	c.22 others(26): Show c.2249_*2250insTTTTTTTTTTTTTTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		478		chr16	TogoVar
ABCC3_chr17_50629881_50697253	50673992	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTCTCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	342	0.0029	15	c.259 others(32): Show c.2599+335_2599+336insTTCTTTCTTTCTCTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673993	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0119 a0004c0007t0001g0119	1	342	0.0029	15	c.259 others(32): Show c.2599+335_2599+336insTTCTTTCTTTCTTTC	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30			chr17	TogoVar
ABCC3_chr17_50629881_50697253	50694129	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02145.hp2 HG03486.hp1 others(3): Show HG00423.hp2 HG02145.hp2 HG03486.hp1 HG04184.hp1 NA18988.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0131 a0001c0001t0001g0188 others(3): Show a0001c0001t0001g0087 a0001c0001t0001g0131 a0001c0001t0001g0188 a0001c0001t0001g0206 a0001c0001t0001g0308 a0001c0001t0001g0320	6	342	0.0175	15	c.29 others(26): Show c.2929_*2930insAAAAAAAAAAAAAAA	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding		1877		chr17	TogoVar
ABCC4_chr13_95014835_95306451	95054021	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02818.hp1 HG02055.hp2 HG02818.hp1	a0001 a0001	a0001c0013 a0001c0050 a0001c0013 a0001c0050	a0001c0013t0001 a0001c0050t0005 a0001c0013t0001 a0001c0050t0005	a0001c0013t0001g0037 a0001c0050t0005g0038 a0001c0013t0001g0037 a0001c0050t0005g0038	2	248	0.0081	15	c.336 others(32): Show c.3367-852_3367-838dupAAAAAAAAAAAAAAA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	26/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95218846	G G	GAAAGAAA others(8): Show GAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02970.hp1 NA21309.hp1 HG01243.hp1 HG02970.hp1 NA21309.hp1	a0001 a0001	a0001c0007 a0001c0010 a0001c0023 a0001c0007 a0001c0010 a0001c0023	a0001c0007t0019 a0001c0010t0024 a0001c0023t0003 a0001c0007t0019 a0001c0010t0024 a0001c0023t0003	a0001c0007t0019g0026 a0001c0010t0024g0024 a0001c0023t0003g0073 a0001c0007t0019g0026 a0001c0010t0024g0024 a0001c0023t0003g0073	3	248	0.0121	15	c.532 others(32): Show c.532-8066_532-8065insTCTTTTCTTTTCTTT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	4/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95286123	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(32): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00673.hp1 HG00738.hp1 HG01192.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01981.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02559.hp2 HG02622.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG04184.hp1 HG04199.hp2 NA18959.hp1 NA18966.hp1 NA18968.hp1 NA18985.hp1 NA18988.hp1 NA19002.hp1 NA19030.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0016	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0017 a0001c0023 a0001c0066 a0001c0067 a0002c0004 a0002c0005 a0002c0015 a0003c0008 a0004c0006 a0004c0030 a0008c0031 a0016c0073	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(24): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0003t0005 a0001c0007t0001 a0001c0007t0019 a0001c0010t0007 a0001c0011t0002 a0001c0012t0006 a0001c0014t0007 a0001c0017t0006 a0001c0023t0003 a0001c0023t0006 a0001c0066t0003 a0001c0067t0004 a0002c0004t0002 a0002c0005t0002 a0002c0005t0013 a0002c0015t0001 a0002c0015t0007 a0003c0008t0001 a0004c0006t0001 a0004c0030t0002 a0008c0031t0002 a0016c0073t0001	a0001c0001t0002g0201 a0001c0002t0001g0139 a0001c0002t0001g0174 others(32): Show a0001c0001t0002g0201 a0001c0002t0001g0139 a0001c0002t0001g0174 a0001c0002t0001g0177 a0001c0002t0002g0178 a0001c0002t0005g0027 a0001c0003t0001g0036 a0001c0003t0001g0149 a0001c0003t0001g0225 a0001c0003t0001g0233 a0001c0003t0005g0019 a0001c0007t0001g0237 a0001c0007t0019g0026 a0001c0010t0007g0143 a0001c0011t0002g0101 a0001c0012t0006g0224 a0001c0014t0007g0191 a0001c0017t0006g0138 a0001c0023t0003g0073 a0001c0023t0006g0008 a0001c0066t0003g0035 a0001c0067t0004g0074 a0002c0004t0002g0100 a0002c0005t0002g0092 a0002c0005t0002g0235 a0002c0005t0013g0060 a0002c0015t0001g0025 a0002c0015t0007g0071 a0003c0008t0001g0141 a0003c0008t0001g0205 a0004c0006t0001g0104 a0004c0006t0001g0176 a0004c0030t0002g0069 a0008c0031t0002g0002 a0016c0073t0001g0186	35	248	0.1411	15	c.74+ others(32): Show c.74+15117_74+15118insAAAAAAAAAAAAAAA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95291009	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01109.hp1 HG03209.hp2 HG00673.hp1 HG01109.hp1 HG03209.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0036 a0007c0069 a0001c0002 a0001c0036 a0007c0069	a0001c0002t0002 a0001c0036t0001 a0007c0069t0009 a0001c0002t0002 a0001c0036t0001 a0007c0069t0009	a0001c0002t0002g0178 a0001c0036t0001g0164 a0007c0069t0009g0043 a0001c0002t0002g0178 a0001c0036t0001g0164 a0007c0069t0009g0043	3	248	0.0121	15	c.74+ others(32): Show c.74+10231_74+10232insCTTTTTTTTTTTTTT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC5_chr3_183914934_184022884	184012047	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	378	0.0027	15	c.129 others(32): Show c.129+2216_129+2217insGTGTGTGTGTGTGTG	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	2/29			chr3	TogoVar
ABCC6_chr16_16144565_16228494	16149370	A A	AAATACAC others(8): Show AAATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0007 a0012c0025t0001g0007	1	357	0.0028	15	c.76 others(24): Show c.762_*763insGTGTGTGTGTGTATT	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding		194		chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGTGGG others(8): Show TGGGTGGGATGGATAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02040.hp1 HG02257.hp2 others(9): Show HG01175.hp2 HG02040.hp1 HG02257.hp2 HG02717.hp1 HG03225.hp1 HG03579.hp1 HG03579.hp2 NA18951.hp1 NA18963.hp2 NA18980.hp1 NA18995.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0072 others(1): Show a0001c0001 a0001c0004 a0001c0072 a0004c0010	a0001c0001t0001 a0001c0004t0001 a0001c0072t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0072t0001 a0004c0010t0001	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0064 others(9): Show a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0064 a0001c0001t0001g0108 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0247 a0001c0001t0001g0341 a0001c0004t0001g0006 a0001c0004t0001g0263 a0001c0072t0001g0356 a0004c0010t0001g0075	12	357	0.0336	15	c.278 others(32): Show c.2787+965_2787+966insTTATCCATCCCACCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGTGGG others(8): Show TGGGTGGGATGGCTAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(38): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00733.hp2 HG00735.hp1 HG01516.hp1 HG01517.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02451.hp2 HG02738.hp1 HG02809.hp2 HG02922.hp1 HG02970.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 NA18612.hp2 NA18952.hp2 NA18969.hp1 NA18970.hp2 NA18987.hp1 NA19002.hp1 NA19030.hp2 NA19056.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0008 a0011 a0018 a0026 a0027 a0041	a0001c0001 a0001c0004 a0001c0006 others(10): Show a0001c0001 a0001c0004 a0001c0006 a0001c0033 a0002c0003 a0004c0010 a0005c0048 a0008c0011 a0011c0016 a0018c0035 a0026c0056 a0027c0073 a0041c0080	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0009 a0001c0033t0002 a0002c0003t0001 a0004c0010t0001 a0005c0048t0001 a0008c0011t0003 a0011c0016t0001 a0011c0016t0006 a0011c0016t0011 a0018c0035t0001 a0026c0056t0001 a0027c0073t0001 a0041c0080t0001	a0001c0001t0001g0003 a0001c0001t0001g0191 a0001c0001t0001g0229 others(38): Show a0001c0001t0001g0003 a0001c0001t0001g0191 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0002g0030 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0322 a0001c0004t0001g0220 a0001c0004t0002g0133 a0001c0006t0001g0189 a0001c0006t0001g0276 a0001c0006t0001g0278 a0001c0006t0001g0292 a0001c0006t0001g0296 a0001c0006t0001g0297 a0001c0006t0001g0298 a0001c0006t0001g0330 a0001c0006t0002g0246 a0001c0006t0009g0285 a0001c0033t0002g0195 a0002c0003t0001g0306 a0004c0010t0001g0042 a0004c0010t0001g0043 a0004c0010t0001g0046 a0005c0048t0001g0063 a0008c0011t0003g0058 a0008c0011t0003g0059 a0008c0011t0003g0060 a0011c0016t0001g0275 a0011c0016t0006g0280 a0011c0016t0011g0301 a0018c0035t0001g0078 a0026c0056t0001g0041 a0027c0073t0001g0016 a0041c0080t0001g0090	41	357	0.1149	15	c.278 others(32): Show c.2787+965_2787+966insTTAGCCATCCCACCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16174759	A A	ACCCCCCC others(8): Show ACCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	357	0.0028	15	c.266 others(34): Show c.2666+1151_2666+1152insGGGGGGGGGGGGGGG	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	20/30			chr16	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0188 a0001c0001t0008g0189 a0001c0001t0008g0188 a0001c0001t0008g0189	2	212	0.0094	15	c.816 others(30): Show c.816+153_816+154insAAAAATATATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCD3_chr1_94413389_94523663	94418421	A A	AGCCGCCG others(8): Show AGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0017 a0001c0004t0016g0017	1	362	0.0028	15	c.-49 others(22): Show c.-49_-35dupCGCCGCCGCCGCCGC	ABCD3	ENSG00000117528.14	transcript	ENST00000370214.9	protein_coding	1/23	34	INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCF3_chr3_184181199_184199005	184187217	A A	AGTTTTGT others(8): Show AGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	416	0.0024	15	c.302 others(30): Show c.302-164_302-150dupGTTTTGTTTTGTTTT	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184191749	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	416	0.0024	15	c.156 others(32): Show c.1569+508_1569+509insTTTTTTTTTTTTTTT	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABCG1_chr21_42214140_42302244	42279278	G G	GGAATTCT others(8): Show GGAATTCTGTCTCTCT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0052 a0001c0003t0005g0052	1	354	0.0028	15	c.588 others(32): Show c.588+2336_588+2350dupATTCTGTCTCTCTGA	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG2_chr4_88085269_88163639	88137012	C C	CAATAAAA others(8): Show CAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01169.hp1 others(16): Show HG00738.hp2 HG01081.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp2 HG01516.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG02148.hp2 HG02273.hp2 HG02300.hp2 HG02698.hp1 HG02723.hp2 HG03654.hp2 HG04204.hp2 NA18965.hp1 NA19054.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0004t0015 a0003c0003t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0071 others(15): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0071 a0001c0001t0001g0168 a0002c0002t0001g0002 a0002c0002t0001g0043 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0066 a0002c0002t0001g0073 a0002c0002t0001g0266 a0002c0002t0002g0086 a0002c0004t0001g0206 a0002c0004t0001g0207 a0002c0004t0001g0323 a0002c0004t0015g0330 a0003c0003t0001g0212 a0003c0003t0001g0213	19	350	0.0543	15	c.203 others(32): Show c.203+2766_203+2780dupTTATTTTATTTTATT	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	2/15			chr4	TogoVar
ABCG4_chr11_119144052_119167653	119147464	G G	GAAAATAA others(8): Show GAAAATAAAGAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	388	0.0026	15	c.-19 others(26): Show c.-1912_-1911insAAAATAAAGAAGAAA	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding		1587		chr11	TogoVar
ABCG4_chr11_119144052_119167653	119147518	A A	AAAGAAAG others(8): Show AAAGAAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02135.hp2 HG02630.hp1 others(6): Show HG02004.hp1 HG02135.hp2 HG02630.hp1 HG02896.hp2 HG04115.hp2 NA18947.hp2 NA18995.hp2 NA19012.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0007 a0001c0001t0001 a0001c0016t0007	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0035 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0068 a0001c0016t0007g0084	9	388	0.0232	15	c.-18 others(26): Show c.-1858_-1857insAAGAAAGGAAGGAAG	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding		1533		chr11	TogoVar
ABCG4_chr11_119144052_119167653	119147518	A A	AAAGGAAG others(8): Show AAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02559.hp2 HG00642.hp2 HG02559.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0027 a0001c0005t0005g0027	2	388	0.0052	15	c.-18 others(26): Show c.-1858_-1857insAAGGAAGGAAGGAAG	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding		1533		chr11	TogoVar
ABHD10_chr3_111974026_111998368	111986428	G G	GTTTGTTT others(8): Show GTTTGTTTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03486.hp1 HG02559.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	2	424	0.0047	15	c.438 others(28): Show c.438+62_438+76dupGTTTTGTTTTGTTTT	ABHD10	ENSG00000144827.9	transcript	ENST00000273359.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD12B_chr14_50867053_50909970	50882373	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02572.hp1 HG02630.hp1 others(5): Show HG02056.hp2 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02896.hp2 HG03516.hp2 HG06807.hp2 NA19030.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0001c0011 others(2): Show a0001c0001 a0001c0006 a0001c0011 a0002c0004 a0004c0009	a0001c0001t0001 a0001c0006t0001 a0001c0006t0013 others(3): Show a0001c0001t0001 a0001c0006t0001 a0001c0006t0013 a0001c0011t0004 a0002c0004t0002 a0004c0009t0003	a0001c0001t0001g0296 a0001c0006t0001g0059 a0001c0006t0001g0129 others(5): Show a0001c0001t0001g0296 a0001c0006t0001g0059 a0001c0006t0001g0129 a0001c0006t0001g0241 a0001c0006t0013g0028 a0001c0011t0004g0088 a0002c0004t0002g0294 a0004c0009t0003g0168	8	376	0.0213	15	c.486 others(30): Show c.486+754_486+768dupTTTTTTTTTTTTTTT	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50887211	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp2 NA19030.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0296 a0003c0003t0001g0027 a0001c0001t0001g0296 a0003c0003t0001g0027	2	376	0.0053	15	c.700 others(30): Show c.700+531_700+545dupAAAAAAAAAAAAAAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50894851	C C	CTTCCTCC others(8): Show CTTCCTCCCCAGGTTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01361.hp2 HG01884.hp1 others(26): Show HG01261.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp1 HG03516.hp1 HG06807.hp2 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0002c0004 a0003c0003 a0004c0007 a0009c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0006t0001 a0001c0006t0013 a0002c0002t0005 a0002c0002t0006 a0002c0002t0011 a0002c0004t0005 a0002c0004t0006 a0002c0004t0010 a0003c0003t0003 a0004c0007t0001 a0009c0017t0006	a0001c0001t0001g0031 a0001c0001t0001g0182 a0001c0001t0001g0207 others(26): Show a0001c0001t0001g0031 a0001c0001t0001g0182 a0001c0001t0001g0207 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0004g0318 a0001c0006t0001g0059 a0001c0006t0001g0129 a0001c0006t0013g0028 a0002c0002t0005g0022 a0002c0002t0005g0024 a0002c0002t0005g0153 a0002c0002t0005g0170 a0002c0002t0005g0171 a0002c0002t0005g0179 a0002c0002t0005g0217 a0002c0002t0005g0244 a0002c0002t0005g0245 a0002c0002t0006g0317 a0002c0002t0011g0175 a0002c0004t0005g0072 a0002c0004t0006g0023 a0002c0004t0006g0169 a0002c0004t0006g0228 a0002c0004t0010g0205 a0003c0003t0003g0287 a0004c0007t0001g0167 a0004c0007t0001g0187 a0009c0017t0006g0224	29	376	0.0771	15	c.780 others(32): Show c.780+5948_780+5949insTTCCTCCCCAGGTTG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	9/12			chr14	TogoVar
ABHD12_chr20_25295214_25395835	25313578	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00639.hp2 others(53): Show HG00438.hp1 HG00544.hp1 HG00639.hp2 HG00733.hp1 HG01081.hp1 HG01255.hp1 HG01361.hp1 HG01496.hp1 HG01981.hp1 HG01993.hp2 HG02056.hp1 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02258.hp1 HG02523.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03540.hp1 HG03710.hp2 HG03834.hp2 NA18939.hp2 NA18942.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18980.hp1 NA18985.hp1 NA18986.hp2 NA18998.hp2 NA19011.hp1 NA19030.hp1 NA19057.hp2 NA19062.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0002t0003 a0001c0003t0002 a0005c0008t0002	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0022 others(53): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0004g0266 a0001c0001t0004g0282 a0001c0001t0004g0288 a0001c0001t0005g0310 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0008g0003 a0001c0001t0008g0004 a0001c0001t0008g0005 a0001c0001t0009g0308 a0001c0002t0003g0181 a0001c0003t0002g0226 a0001c0003t0002g0227 a0001c0003t0002g0234 a0001c0003t0002g0236 a0001c0003t0002g0237 a0001c0003t0002g0238 a0001c0003t0002g0239 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0003t0002g0243 a0001c0003t0002g0244 a0001c0003t0002g0245 a0001c0003t0002g0246 a0001c0003t0002g0252 a0001c0003t0002g0253 a0001c0003t0002g0254 a0001c0003t0002g0256 a0001c0003t0002g0257 a0001c0003t0002g0258 a0001c0003t0002g0259 a0001c0003t0002g0260 a0001c0003t0002g0261 a0001c0003t0002g0262 a0001c0003t0002g0263 a0001c0003t0002g0264 a0001c0003t0002g0286 a0005c0008t0002g0248	56	316	0.1772	15	c.619 others(32): Show c.619+1332_619+1346dupATTTTATTTTATTTT	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	6/12			chr20	TogoVar

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