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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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
AADACL4_chr1_12639085_12672076	12658166	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	310	0.0032	42	c.386 others(59): Show c.386-3624_386-3623insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCA10_chr17_69143007_69233824	69162808	T T	TATATACA others(35): Show TATATACATATACATATACACATACATATACATATACATATAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0019 a0019	a0019c0037 a0019c0037	a0019c0037t0007 a0019c0037t0007	a0019c0037t0007g0331 a0019c0037t0007g0331	1	348	0.0029	42	c.336 others(61): Show c.3363+1265_3363+1266insGTATATGTATATGTATATGTATGTGT ATATGTATATGTATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69162838	C C	CATATACA others(35): Show CATATACATATACATATACATATACATATACATATACATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	348	0.0029	42	c.336 others(61): Show c.3363+1235_3363+1236insATATATGTATATGTATATGTATATGT ATATGTATATGTATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303807	T T	TATATATA others(35): Show TATATATATATATATATATATATACACATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01433.hp2 HG02027.hp1 others(3): Show HG01255.hp1 HG01433.hp2 HG02027.hp1 HG02258.hp1 HG04228.hp1 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0008 others(1): Show a0001c0002 a0001c0006 a0001c0008 a0001c0013	a0001c0002t0001 a0001c0002t0013 a0001c0006t0001 others(2): Show a0001c0002t0001 a0001c0002t0013 a0001c0006t0001 a0001c0008t0001 a0001c0013t0002	a0001c0002t0001g0047 a0001c0002t0001g0057 a0001c0002t0013g0074 others(3): Show a0001c0002t0001g0047 a0001c0002t0001g0057 a0001c0002t0013g0074 a0001c0006t0001g0105 a0001c0008t0001g0051 a0001c0013t0002g0056	6	350	0.0171	42	c.930 others(57): Show c.930+861_930+862insGTGTATATATATATATGTGTATATATATAT ATATATATATAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303861	T T	TATATATA others(35): Show TATATATACATACATATATATATACATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0031 a0002c0001t0031	a0002c0001t0031g0313 a0002c0001t0031g0313	1	350	0.0029	42	c.930 others(57): Show c.930+807_930+808insGTATGTGTATATATATATGTATATATATAT GTATGTATATAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0067 a0001c0005t0002g0067	1	249	0.0040	42	c.49- others(57): Show c.49-7977_49-7976insCTCTCTCTCTCTCTCTCTCTGTCTCTTTCT TTCTTTCTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0004 a0004	a0004c0038 a0004c0038	a0004c0038t0006 a0004c0038t0006	a0004c0038t0006g0092 a0004c0038t0006g0092	1	249	0.0040	42	c.49- others(57): Show c.49-7977_49-7976insCTCTCTCTCTCTGTCTCTTTCTTTCTTTCT TTCTTTCTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16124335	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01928.hp2 NA19056.hp2 others(1): Show HG00738.hp2 HG01928.hp2 NA19056.hp2 NA19065.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0001c0005 a0010c0034 a0001c0002 a0001c0005 a0010c0034	a0001c0002t0001 a0001c0002t0008 a0001c0005t0004 others(1): Show a0001c0002t0001 a0001c0002t0008 a0001c0005t0004 a0010c0034t0003	a0001c0002t0001g0221 a0001c0002t0008g0162 a0001c0005t0004g0131 others(1): Show a0001c0002t0001g0221 a0001c0002t0008g0162 a0001c0005t0004g0131 a0010c0034t0003g0249	4	249	0.0161	42	c.359 others(59): Show c.3591-440_3591-439insTGTGTGTGTGTGTGTGTATGTGTGTGTA TGTGTGTGTGTGTG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	24/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC2_chr10_99777640_99857594	99778449	C C	CAGAGAGA others(35): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0152 a0002c0003t0001g0152	1	336	0.0030	42	c.-43 others(53): Show c.-4396_-4395insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AAAGAGAG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4190		chr10	TogoVar
ABCC3_chr17_50629881_50697253	50673988	C C	CCTTCCTT others(35): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	342	0.0029	42	c.259 others(59): Show c.2599+330_2599+331insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30			chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674034	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	342	0.0029	42	c.259 others(59): Show c.2599+379_2599+380insCTCTCTCTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674034	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	342	0.0029	42	c.259 others(59): Show c.2599+377_2599+378insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95126734	T T	TATATATA others(35): Show TATATATATTCCAAAATATATATATATATATATATATTCCAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0019 a0001c0007t0019	a0001c0007t0019g0026 a0001c0007t0019g0026	1	248	0.0040	42	c.245 others(63): Show c.2456-10734_2456-10733insTTTGGAATATATATATATATATAT ATATTTTGGAATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC6_chr16_16144565_16228494	16172047	A A	AGTGGGAT others(35): Show AGTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	357	0.0028	42	c.278 others(61): Show c.2787+1236_2787+1237insCCACTCATTTAGCCATCCCACCCACT CATTTATCCATCCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172057	A A	ATAAATGA others(35): Show ATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0111 a0003c0007t0001g0111	1	357	0.0028	42	c.278 others(61): Show c.2787+1226_2787+1227insGCCATCCCACCCACTCATTTAGCCAT CCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172106	A A	AATGGGTG others(35): Show AATGGGTGGGATGCATAAATGAGTGAGTGGGATGGATAAATGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(173): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp2 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0004 others(22): Show a0001 a0002 a0004 a0005 a0006 a0008 a0012 a0013 a0015 a0016 a0017 a0020 a0021 a0025 a0026 a0029 a0030 a0031 a0032 a0034 a0035 a0036 a0038 a0039 a0042	a0001c0001 a0001c0004 a0001c0006 others(39): Show a0001c0001 a0001c0004 a0001c0006 a0001c0023 a0001c0033 a0001c0043 a0001c0052 a0001c0064 a0001c0065 a0001c0067 a0002c0003 a0002c0014 a0002c0022 a0002c0024 a0002c0057 a0002c0074 a0004c0010 a0004c0078 a0005c0031 a0005c0048 a0006c0009 a0008c0011 a0012c0025 a0012c0030 a0013c0050 a0015c0019 a0016c0036 a0017c0034 a0020c0032 a0021c0079 a0025c0053 a0026c0056 a0029c0058 a0030c0046 a0031c0060 a0032c0059 a0034c0063 a0035c0062 a0036c0066 a0038c0069 a0039c0070 a0042c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0001c0006t0001 a0001c0006t0009 a0001c0023t0001 a0001c0033t0001 a0001c0043t0001 a0001c0052t0001 a0001c0064t0005 a0001c0065t0001 a0001c0067t0001 a0002c0003t0001 a0002c0014t0001 a0002c0022t0001 a0002c0024t0001 a0002c0057t0001 a0002c0074t0001 a0004c0010t0001 a0004c0078t0001 a0005c0031t0001 a0005c0048t0001 a0006c0009t0001 a0008c0011t0003 a0012c0025t0001 a0012c0030t0001 a0013c0050t0001 a0015c0019t0001 a0016c0036t0001 a0017c0034t0001 a0020c0032t0001 a0021c0079t0001 a0025c0053t0001 a0026c0056t0001 a0029c0058t0001 a0030c0046t0001 a0031c0060t0010 a0032c0059t0001 a0034c0063t0001 a0035c0062t0001 a0036c0066t0001 a0038c0069t0001 a0039c0070t0002 a0042c0039t0001	a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0039 others(172): Show a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0281 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0001g0313 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0002g0161 a0001c0001t0004g0071 a0001c0001t0004g0155 a0001c0001t0004g0181 a0001c0001t0004g0223 a0001c0001t0005g0206 a0001c0004t0001g0034 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0104 a0001c0004t0001g0109 a0001c0004t0001g0162 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0210 a0001c0004t0001g0212 a0001c0006t0001g0189 a0001c0006t0001g0276 a0001c0006t0001g0277 a0001c0006t0001g0278 a0001c0006t0001g0286 a0001c0006t0001g0291 a0001c0006t0001g0292 a0001c0006t0001g0296 a0001c0006t0001g0297 a0001c0006t0001g0298 a0001c0006t0001g0299 a0001c0006t0001g0300 a0001c0006t0001g0329 a0001c0006t0001g0330 a0001c0006t0009g0285 a0001c0023t0001g0066 a0001c0023t0001g0100 a0001c0033t0001g0070 a0001c0043t0001g0236 a0001c0052t0001g0283 a0001c0064t0005g0324 a0001c0065t0001g0312 a0001c0067t0001g0351 a0002c0003t0001g0002 a0002c0003t0001g0013 a0002c0003t0001g0074 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0084 a0002c0003t0001g0123 a0002c0003t0001g0141 a0002c0003t0001g0145 a0002c0003t0001g0151 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0175 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0232 a0002c0003t0001g0257 a0002c0003t0001g0261 a0002c0003t0001g0267 a0002c0003t0001g0306 a0002c0003t0001g0316 a0002c0003t0001g0320 a0002c0003t0001g0333 a0002c0003t0001g0350 a0002c0014t0001g0284 a0002c0014t0001g0288 a0002c0014t0001g0289 a0002c0014t0001g0328 a0002c0014t0001g0331 a0002c0022t0001g0095 a0002c0022t0001g0345 a0002c0024t0001g0154 a0002c0057t0001g0255 a0002c0074t0001g0185 a0004c0010t0001g0342 a0004c0078t0001g0199 a0005c0031t0001g0132 a0005c0031t0001g0349 a0005c0048t0001g0063 a0006c0009t0001g0044 a0006c0009t0001g0048 a0006c0009t0001g0050 a0006c0009t0001g0116 a0006c0009t0001g0118 a0006c0009t0001g0119 a0006c0009t0001g0120 a0008c0011t0003g0061 a0008c0011t0003g0062 a0008c0011t0003g0091 a0012c0025t0001g0007 a0012c0025t0001g0008 a0012c0030t0001g0274 a0013c0050t0001g0040 a0015c0019t0001g0122 a0015c0019t0001g0124 a0015c0019t0001g0125 a0016c0036t0001g0343 a0016c0036t0001g0344 a0017c0034t0001g0001 a0020c0032t0001g0051 a0020c0032t0001g0149 a0021c0079t0001g0238 a0025c0053t0001g0153 a0026c0056t0001g0041 a0029c0058t0001g0164 a0030c0046t0001g0304 a0031c0060t0010g0240 a0032c0059t0001g0009 a0034c0063t0001g0170 a0035c0062t0001g0315 a0036c0066t0001g0052 a0038c0069t0001g0015 a0039c0070t0002g0067 a0042c0039t0001g0032	176	357	0.4930	42	c.278 others(61): Show c.2787+1177_2787+1178insCCATTTATCCATCCCACTCACTCATT TATGCATCCCACCCAT	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172322	A A	AGTGGGTG others(35): Show AGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00639.hp1 others(40): Show HG00408.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG01099.hp2 HG01168.hp1 HG01257.hp1 HG01884.hp1 HG02132.hp2 HG02602.hp1 HG02723.hp1 HG02809.hp1 HG03098.hp1 HG03516.hp2 HG04204.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18951.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19066.hp2 NA19070.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp1	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0009 a0037 a0040 a0045	a0001c0002 a0001c0026 a0001c0028 others(6): Show a0001c0002 a0001c0026 a0001c0028 a0004c0017 a0005c0012 a0009c0015 a0037c0061 a0040c0041 a0045c0037	a0001c0002t0001 a0001c0002t0002 a0001c0026t0001 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0026t0001 a0001c0028t0001 a0004c0017t0001 a0005c0012t0001 a0009c0015t0001 a0037c0061t0001 a0040c0041t0001 a0045c0037t0001	a0001c0002t0001g0010 a0001c0002t0001g0023 a0001c0002t0001g0025 others(40): Show a0001c0002t0001g0010 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0054 a0001c0002t0001g0085 a0001c0002t0001g0093 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0131 a0001c0002t0001g0137 a0001c0002t0001g0140 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0166 a0001c0002t0001g0174 a0001c0002t0001g0222 a0001c0002t0001g0231 a0001c0002t0001g0287 a0001c0002t0001g0310 a0001c0002t0001g0354 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0026t0001g0096 a0001c0028t0001g0279 a0001c0028t0001g0295 a0004c0017t0001g0192 a0004c0017t0001g0214 a0004c0017t0001g0254 a0005c0012t0001g0121 a0005c0012t0001g0130 a0005c0012t0001g0138 a0005c0012t0001g0139 a0005c0012t0001g0178 a0009c0015t0001g0018 a0009c0015t0001g0019 a0009c0015t0001g0022 a0009c0015t0001g0327 a0037c0061t0001g0129 a0040c0041t0001g0216 a0045c0037t0001g0355	43	357	0.1205	42	c.278 others(59): Show c.2787+961_2787+962insCCATTTATCCATCCCACCCACTCATTTA GCCATCCCACCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172336	C C	CTAAATGA others(35): Show CTAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	357	0.0028	42	c.278 others(59): Show c.2787+947_2787+948insTCCATCCCACCCACTCATTTAGCCATCC CACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172343	G G	AGTGGGTG others(35): Show AGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0027 a0005c0012t0001g0027	1	357	0.0028	42	c.278 others(59): Show c.2787+941_2787+942insCATTTATCCATCCCACCCACTCATTTAG CCATCCCACCCACT	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172385	A A	GGTGGGTG others(35): Show GGTGGGTGGGATGGCTAAATGAGCGGGTGGGATGGATAAATGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(61): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00642.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02056.hp1 HG02071.hp1 HG02135.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02559.hp2 HG02602.hp2 HG02698.hp2 HG03130.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03834.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18952.hp1 NA18977.hp2 NA18981.hp1 NA19000.hp1 NA19003.hp1 NA19009.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19082.hp2 NA19087.hp1 NA19087.hp2 NA20805.hp2	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0016 a0020 a0025 a0036 a0039	a0001c0001 a0001c0004 a0001c0006 others(11): Show a0001c0001 a0001c0004 a0001c0006 a0001c0023 a0001c0043 a0001c0064 a0001c0067 a0004c0010 a0005c0031 a0016c0036 a0020c0032 a0025c0053 a0036c0066 a0039c0070	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0001c0006t0001 a0001c0023t0001 a0001c0043t0001 a0001c0064t0005 a0001c0067t0001 a0004c0010t0001 a0005c0031t0001 a0016c0036t0001 a0020c0032t0001 a0025c0053t0001 a0036c0066t0001 a0039c0070t0002	a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0069 others(61): Show a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0227 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0281 a0001c0001t0001g0303 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0002g0161 a0001c0001t0004g0155 a0001c0001t0004g0223 a0001c0001t0005g0206 a0001c0004t0001g0034 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0104 a0001c0004t0001g0109 a0001c0004t0001g0162 a0001c0004t0001g0210 a0001c0006t0001g0277 a0001c0006t0001g0286 a0001c0006t0001g0299 a0001c0006t0001g0300 a0001c0023t0001g0066 a0001c0023t0001g0100 a0001c0043t0001g0236 a0001c0064t0005g0324 a0001c0067t0001g0351 a0004c0010t0001g0342 a0005c0031t0001g0132 a0005c0031t0001g0349 a0016c0036t0001g0343 a0020c0032t0001g0051 a0020c0032t0001g0149 a0025c0053t0001g0153 a0036c0066t0001g0052 a0039c0070t0002g0067	64	357	0.1793	42	c.278 others(59): Show c.2787+899_2787+900insCATTTATCCATCCCACCCGCTCATTTAG CCATCCCACCCACC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172385	A A	GGTGGGTG others(35): Show GGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp1 HG01358.hp1 others(16): Show HG01106.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG02071.hp2 HG02572.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp2 HG02818.hp1 HG02970.hp1 HG03195.hp1 HG03490.hp2 HG03654.hp1 HG03710.hp1 NA18959.hp2 NA18998.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0008 others(3): Show a0001 a0004 a0008 a0011 a0018 a0038	a0001c0001 a0001c0004 a0001c0047 others(7): Show a0001c0001 a0001c0004 a0001c0047 a0001c0065 a0004c0010 a0004c0078 a0008c0011 a0011c0016 a0018c0035 a0038c0069	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0047t0002 a0001c0065t0001 a0004c0010t0001 a0004c0078t0001 a0008c0011t0003 a0011c0016t0006 a0018c0035t0001 a0038c0069t0001	a0001c0001t0001g0086 a0001c0001t0001g0201 a0001c0001t0001g0202 others(16): Show a0001c0001t0001g0086 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0002g0087 a0001c0001t0002g0094 a0001c0001t0002g0215 a0001c0001t0002g0242 a0001c0001t0002g0311 a0001c0004t0002g0218 a0001c0004t0002g0219 a0001c0047t0002g0101 a0001c0065t0001g0312 a0004c0010t0001g0073 a0004c0078t0001g0199 a0008c0011t0003g0061 a0008c0011t0003g0062 a0011c0016t0006g0271 a0018c0035t0001g0077 a0038c0069t0001g0015	19	357	0.0532	42	c.278 others(59): Show c.2787+899_2787+900insCATTTATCCATCCCACCCACTCATTTAG CCATCCCACCCACC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCG2_chr4_88085269_88163639	88115232	G G	GTCTCTCT others(35): Show GTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02148.hp1 HG02293.hp2 others(3): Show HG01261.hp1 HG02148.hp1 HG02293.hp2 HG03831.hp2 NA18981.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0012 a0001c0001t0001 a0002c0002t0001 a0002c0002t0012	a0001c0001t0001g0194 a0001c0001t0001g0234 a0001c0001t0001g0268 others(3): Show a0001c0001t0001g0194 a0001c0001t0001g0234 a0001c0001t0001g0268 a0001c0001t0001g0329 a0002c0002t0001g0054 a0002c0002t0012g0273	6	350	0.0171	42	c.842 others(57): Show c.842-175_842-174insGAGAGAGAGAGAGAGAGAGAGAGAGACAGA GAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	350	0.0029	42	c.842 others(57): Show c.842-199_842-198insTATATATATATATATATATAGAGAGAGAGA GAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	350	0.0029	42	c.842 others(57): Show c.842-199_842-198insTATATATATATAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0334 a0003c0003t0004g0334	1	350	0.0029	42	c.842 others(57): Show c.842-199_842-198insTATATATATAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03704.hp2 HG03579.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0193 a0001c0001t0001g0093 a0001c0001t0001g0193	2	350	0.0057	42	c.842 others(57): Show c.842-199_842-198insTATATATAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18989.hp2 NA18906.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0316 a0001c0001t0001g0282 a0001c0001t0001g0316	2	350	0.0057	42	c.842 others(57): Show c.842-199_842-198insTATATAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01978.hp1 HG02040.hp1 others(3): Show HG00423.hp1 HG01978.hp1 HG02040.hp1 HG03710.hp2 NA19056.hp1 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0009c0010t0001 a0001c0001t0001 a0009c0010t0001	a0001c0001t0001g0126 a0001c0001t0001g0161 a0001c0001t0001g0175 others(3): Show a0001c0001t0001g0126 a0001c0001t0001g0161 a0001c0001t0001g0175 a0001c0001t0001g0232 a0001c0001t0001g0261 a0009c0010t0001g0260	6	350	0.0171	42	c.842 others(57): Show c.842-199_842-198insTATAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABHD12B_chr14_50867053_50909970	50870937	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	376	0.0027	42	c.-12 others(53): Show c.-1238_-1237insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1115		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0148 a0003c0003t0001g0148	1	376	0.0027	42	c.-11 others(53): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0098 a0002c0002t0002g0098	1	376	0.0027	42	c.-11 others(53): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAAGAA AGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAGAAAGA others(35): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0248 a0002c0002t0002g0248	1	376	0.0027	42	c.-11 others(53): Show c.-1192_-1191insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870991	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 NA18988.hp2 HG02135.hp2 NA18988.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0277 a0002c0002t0002g0040 a0001c0001t0001g0277 a0002c0002t0002g0040	2	376	0.0053	42	c.-11 others(53): Show c.-1184_-1183insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1061		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0223 a0001c0002t0002g0223	1	316	0.0032	42	c.422 others(57): Show c.422+943_422+944insAAAAAATATATATATATATATATATATATA TATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD6_chr3_58232792_58299734	58286844	G G	GTGTGTAT others(35): Show GTGTGTATATATATATATGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	302	0.0033	42	c.837 others(59): Show c.837+1396_837+1397insATATATATATATGTATATATATATATAT ATATATATATGTGT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GTATATAT others(35): Show GTATATATATATATGTATATATATATATATATATATATGTGTA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02273.hp1 HG01074.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	302	0.0066	42	c.837 others(59): Show c.837+1396_837+1397insATATATATATATGTATATATATATATAT ATATATATGTGTAT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABI1_chr10_26741596_26865958	26818631	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0283 a0001c0001t0003g0283	1	358	0.0028	42	c.285 others(59): Show c.285+4506_285+4507insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	2/10			chr10	TogoVar
ABI2_chr2_203323394_203437169	203338953	T T	TATATATA others(35): Show TATATATATATATATAAATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0145 a0001c0001t0004g0145	1	320	0.0031	42	c.117 others(61): Show c.117+10331_117+10332insTATATAAATATATATATATATATATA TATATAAATATATATA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp2 HG02451.hp1 HG03195.hp2	a0004 a0004	a0004c0008 a0004c0023 a0004c0008 a0004c0023	a0004c0008t0012 a0004c0023t0012 a0004c0008t0012 a0004c0023t0012	a0004c0008t0012g0031 a0004c0023t0012g0134 a0004c0008t0012g0031 a0004c0023t0012g0134	2	256	0.0078	42	c.982 others(57): Show c.982+778_982+779insTATATATATATATATACACACACACACACA CACACACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	8076988	G G	GAGGGTGG others(35): Show GAGGGTGGGCTGCAGGATGGGGGTTGGGGGTCTGTGAATCCGA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0065 a0001c0004t0003g0065	1	322	0.0031	42	c.675 others(57): Show c.675+598_675+639dupTCGGATTCACAGACCCCCAACCCCCATCCT GCAGCCCACCCT	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	6/20			chr4	TogoVar
ABR_chr17_998519_1184981	1032641	A A	ACCCGCGT others(35): Show ACCCGCGTCCGTGCTGGGCGCAGAGGACGCCACGGGCAACCAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0229 a0001c0003t0016g0229	1	337	0.0030	42	c.179 others(63): Show c.1791+17408_1791+17409insGTGGTTGCCCGTGGCGTCCTCTGC GCCCAGCACGGACGCGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1053339	A A	AAGGGTCT others(35): Show AAGGGTCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(33): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00597.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG02080.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03688.hp2 HG03927.hp1 NA18944.hp1 NA18954.hp1 NA18971.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA19002.hp2 NA19065.hp2 NA19070.hp1 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 a0001c0001t0022 a0001c0001t0049 a0001c0001t0065 a0001c0001t0086 a0001c0003t0012 a0001c0003t0016 a0001c0003t0080 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0089 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0002g0170 a0001c0001t0002g0179 a0001c0001t0003g0062 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0168 a0001c0001t0004g0258 a0001c0001t0005g0254 a0001c0001t0006g0086 a0001c0001t0006g0096 a0001c0001t0007g0306 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0011g0125 a0001c0001t0013g0028 a0001c0001t0020g0161 a0001c0001t0022g0047 a0001c0001t0049g0193 a0001c0001t0065g0137 a0001c0001t0086g0294 a0001c0003t0012g0119 a0001c0003t0016g0218 a0001c0003t0016g0229 a0001c0003t0080g0287 a0001c0010t0001g0139	36	337	0.1068	42	c.156 others(61): Show c.1561+2695_1561+2696insCGGAACCCTCCCTCTGACCCTGTGAA CCCTCCCCCAGACCCT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1064963	A A	ACACTGTT others(35): Show ACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	337	0.0030	42	c.118 others(61): Show c.1182+2113_1182+2114insCTAGAGGAACATGCATAGCCCTCAGT TCACATAACAACAGTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1078104	G G	GGTGTGTG others(35): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0262 a0001c0001t0015g0262	1	337	0.0030	42	c.700 others(59): Show c.700+1225_700+1226insACACACACACACACACACACACACACAC ACACACACACACAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	6/22			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0262 a0001c0002t0001g0262	1	299	0.0033	42	c.507 others(61): Show c.5079+5239_5079+5240insAAAAAAAAAATATATATATATATATA TATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390308	A A	ATATATAT others(35): Show ATATATATATATATTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0140 a0001c0001t0007g0140	1	299	0.0033	42	c.38+ others(59): Show c.38+15953_38+15954insATATATATATATATATATATATATATAT AATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109210235	A A	ATATATAC others(35): Show ATATATACACACGTGTGTATATGTATATATACACACATGTGTG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0108 a0001c0108	a0001c0108t0001 a0001c0108t0001	a0001c0108t0001g0010 a0001c0108t0001g0010	1	308	0.0033	42	c.324 others(59): Show c.3249+887_3249+888insACACACGTGTGTATATGTATATATACAC ACATGTGTGTATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288997	T T	TCCCCCGT others(35): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	295	0.0034	42	c.45 others(53): Show c.4566_*4567insGGACGGAGCAGGGACACGGGGGACGGAGCAGAGA CACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3393		chr1	TogoVar
ACCS_chr11_44061270_44089237	44074750	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03098.hp1 HG01891.hp2 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0045 a0002c0003t0001g0045	2	438	0.0046	42	c.489 others(55): Show c.489+94_489+95insCTTTCTTTCTTCCTTTCTCTTTCTTTCTTTCT TTCTTTCTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACCS_chr11_44061270_44089237	44074750	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18982.hp1 NA18939.hp1 NA18982.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0117 a0002c0003t0001g0125 a0002c0003t0001g0117 a0002c0003t0001g0125	2	438	0.0046	42	c.489 others(55): Show c.489+94_489+95insCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCT TTCTTTCTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar

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