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
ACHE_chr7_100884994_100900888	100889741	GCCCCTCC others(13): Show GCCCCTCCCCTCCCCTCCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(145): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0010 a0002c0003 others(1): Show a0001c0001 a0001c0010 a0002c0003 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0010t0001 a0002c0003t0001 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0003g0026 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0010t0001g0078 a0002c0003t0001g0046 a0006c0008t0001g0062	148	414	0.3575	-20	c.45 others(29): Show c.453_*472delAGGGGAGGGGAGGGGAGGGG	ACHE	ENSG00000087085.16	transcript	ENST00000241069.11	protein_coding		252		chr7	TogoVar
ACLY_chr17_41861918_41923951	41865493	TGCGCCGC others(13): Show TGCGCCGCCTCGCCTCCAGCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG01168.hp1 others(41): Show HG01074.hp1 HG01081.hp2 HG01168.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01516.hp1 HG01981.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02257.hp2 HG02523.hp2 HG02572.hp1 HG02683.hp1 HG02717.hp2 HG02896.hp1 HG03017.hp2 HG03130.hp1 HG03453.hp1 HG03492.hp1 HG03834.hp2 HG04184.hp1 NA18939.hp1 NA18957.hp1 NA18965.hp2 NA18969.hp2 NA18974.hp1 NA18979.hp1 NA18995.hp1 NA18999.hp1 NA19011.hp1 NA19060.hp1 NA19067.hp1 NA19082.hp1 NA19090.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 a0001c0003t0005 a0001c0007t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0009	a0001c0001t0001g0047 a0001c0001t0001g0255 a0001c0001t0002g0009 others(40): Show a0001c0001t0001g0047 a0001c0001t0001g0255 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0190 a0001c0001t0002g0224 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0291 a0001c0003t0004g0238 a0001c0003t0004g0241 a0001c0003t0004g0242 a0001c0003t0004g0244 a0001c0003t0004g0251 a0001c0003t0005g0001 a0001c0003t0005g0014 a0001c0003t0005g0240 a0001c0003t0005g0249 a0001c0007t0002g0036 a0002c0002t0002g0191 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0269 a0002c0002t0003g0281 a0002c0002t0003g0283 a0002c0002t0003g0284 a0002c0002t0006g0012 a0002c0002t0009g0011	44	294	0.1497	-20	c.22 others(31): Show c.2297_*2316delTGCTGGAGGCGAGGCGGCGC	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding		1424		chr17	TogoVar
ACMSD_chr2_134833616_134907034	134834843	GGGAGGGA others(13): Show GGGAGGGAGGGAAGGAAGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG03710.hp2 NA20300.hp1 HG02572.hp2 HG03710.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0117 a0001c0001t0001g0146 a0001c0001t0001g0077 a0001c0001t0001g0117 a0001c0001t0001g0146	3	382	0.0079	-20	c.-38 others(31): Show c.-3839_-3820delGGAGGGAGGGAAGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3772		chr2	TogoVar
ACO2_chr22_41464117_41533974	41467677	GGGGAAAT others(13): Show GGGGAAATATACTAGTCTCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(51): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01175.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG02080.hp2 HG02129.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02683.hp2 HG02965.hp2 HG03130.hp2 HG03486.hp2 HG03540.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 NA18946.hp2 NA18947.hp1 NA18959.hp2 NA18961.hp1 NA18970.hp2 NA18971.hp2 NA18979.hp1 NA18985.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19043.hp1 NA19065.hp1 NA19077.hp1 NA19080.hp1 NA19084.hp2 NA19086.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0009 a0001c0002 a0001c0003 a0001c0009	a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0013 others(47): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0042 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0147 a0001c0003t0001g0121 a0001c0003t0001g0145 a0001c0009t0001g0103	54	334	0.1617	-20	c.-14 others(31): Show c.-1469_-1450delGGGAAATATACTAGTCTCCT	ACO2	ENSG00000100412.17	transcript	ENST00000216254.9	protein_coding		1439		chr22	TogoVar
ACOT11_chr1_54543228_54615329	54599167	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02080.hp1 others(2): Show HG01256.hp1 HG01258.hp2 HG02080.hp1 NA18974.hp1 NA19060.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0086 a0003c0003t0005g0087 a0003c0003t0005g0121 others(2): Show a0003c0003t0005g0086 a0003c0003t0005g0087 a0003c0003t0005g0121 a0003c0003t0005g0181 a0003c0003t0005g0332	5	388	0.0129	-20	c.765 others(35): Show c.765-127_765-108delAAAAAAAAAAAAAATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599173	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0003 a0002c0033t0003	a0002c0033t0003g0053 a0002c0033t0003g0053	1	388	0.0026	-20	c.765 others(35): Show c.765-121_765-102delAAAAAAAATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599175	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02486.hp2 HG02165.hp1 HG02486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0006 a0001c0001t0004 a0002c0002t0006	a0001c0001t0004g0315 a0002c0002t0006g0194 a0001c0001t0004g0315 a0002c0002t0006g0194	2	388	0.0052	-20	c.765 others(35): Show c.765-119_765-100delAAAAAATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599177	AAAAAATA others(13): Show AAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19012.hp2 NA18943.hp2 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0001c0001t0004 a0002c0002t0004	a0001c0001t0004g0116 a0002c0002t0004g0089 a0001c0001t0004g0116 a0002c0002t0004g0089	2	388	0.0052	-20	c.765 others(34): Show c.765-117_765-98delAAAATATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599179	AAAATATA others(13): Show AAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18956.hp1 HG01978.hp2 NA18956.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0110 a0005c0005t0003g0111 a0005c0005t0003g0110 a0005c0005t0003g0111	2	388	0.0052	-20	c.765 others(34): Show c.765-115_765-96delAATATATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT7_chr1_6259272_6398767	6308226	GACCAGGC others(13): Show GACCAGGCAGAGGGAACTACA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02293.hp2 HG03834.hp2 others(22): Show HG02074.hp1 HG02293.hp2 HG03834.hp2 NA18612.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18962.hp1 NA18970.hp1 NA18975.hp1 NA18977.hp1 NA18982.hp2 NA18985.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19057.hp2 NA19066.hp2 NA19079.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013	a0001c0001t0002g0001 a0001c0001t0002g0098 a0001c0001t0002g0099 others(21): Show a0001c0001t0002g0001 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0131 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0008g0003 a0001c0001t0008g0004 a0001c0001t0008g0005 a0001c0001t0013g0039	25	240	0.1042	-20	c.712 others(39): Show c.712+10246_712+10265delTGTAGTTCCCTCTGCCTGGT	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	6/8			chr1	TogoVar
ACOT7_chr1_6259272_6398767	6323733	AAAAAATA others(13): Show AAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	240	0.0042	-20	c.625 others(37): Show c.625+3546_625+3565delATATATATATATATATTTTT	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	5/8			chr1	TogoVar
ACOT9_chrX_23696055_23748276	23740717	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02055.hp1 HG02615.hp2 others(7): Show HG01070.hp1 HG02055.hp1 HG02615.hp2 HG03041.hp1 HG03130.hp1 HG03471.hp1 NA18612.hp1 NA18957.hp2 NA18989.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0020 a0001c0001t0032 a0001c0001t0033 a0001c0001t0044 a0001c0002t0001	a0001c0001t0002g0189 a0001c0001t0003g0149 a0001c0001t0003g0190 others(7): Show a0001c0001t0002g0189 a0001c0001t0003g0149 a0001c0001t0003g0190 a0001c0001t0009g0228 a0001c0001t0009g0229 a0001c0001t0020g0188 a0001c0001t0032g0094 a0001c0001t0033g0095 a0001c0001t0044g0213 a0001c0002t0001g0214	10	309	0.0324	-20	c.20+ others(35): Show c.20+2388_20+2407delGTGTGTGTGTGTGTGTGTGT	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOX1_chr17_75936507_75984166	75956953	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03710.hp1 NA18952.hp1 HG02717.hp1 HG03710.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0033 a0001c0001t0002 a0001c0001t0003 a0001c0001t0033	a0001c0001t0002g0051 a0001c0001t0003g0096 a0001c0001t0033g0016 a0001c0001t0002g0051 a0001c0001t0003g0096 a0001c0001t0033g0016	3	344	0.0087	-20	c.538 others(35): Show c.538+486_538+505delTAGAGAGAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956955	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02015.hp1 HG02559.hp2 others(6): Show HG01433.hp2 HG02015.hp1 HG02559.hp2 HG03098.hp1 HG03491.hp1 HG03492.hp1 NA18966.hp1 NA18968.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0034	a0001c0001t0002g0115 a0001c0001t0003g0024 a0001c0001t0003g0060 others(6): Show a0001c0001t0002g0115 a0001c0001t0003g0024 a0001c0001t0003g0060 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0087 a0001c0001t0003g0097 a0001c0001t0013g0048 a0001c0001t0034g0094	9	344	0.0262	-20	c.538 others(35): Show c.538+484_538+503delTATAGAGAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956957	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01515.hp1 HG03130.hp2 others(1): Show HG00621.hp1 HG01515.hp1 HG03130.hp2 NA18991.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0019 a0002c0002t0001 a0001c0001t0002 a0001c0001t0019 a0002c0002t0001	a0001c0001t0002g0080 a0001c0001t0002g0139 a0001c0001t0019g0233 others(1): Show a0001c0001t0002g0080 a0001c0001t0002g0139 a0001c0001t0019g0233 a0002c0002t0001g0217	4	344	0.0116	-20	c.538 others(35): Show c.538+482_538+501delTATATAGAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956959	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02809.hp1 HG03139.hp2 others(1): Show HG01123.hp1 HG02809.hp1 HG03139.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0112 a0001c0001t0003g0046 a0001c0001t0003g0104 others(1): Show a0001c0001t0002g0112 a0001c0001t0003g0046 a0001c0001t0003g0104 a0001c0001t0005g0140	4	344	0.0116	-20	c.538 others(35): Show c.538+480_538+499delTATATATAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956961	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19240.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0024 a0001c0001t0005 a0001c0003t0024	a0001c0001t0005g0275 a0001c0003t0024g0121 a0001c0001t0005g0275 a0001c0003t0024g0121	2	344	0.0058	-20	c.538 others(35): Show c.538+478_538+497delTATATATATAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956963	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0165 a0002c0002t0001g0165	1	344	0.0029	-20	c.538 others(35): Show c.538+476_538+495delTATATATATATAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956965	CTCTCTCT others(13): Show CTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01255.hp1 HG01123.hp2 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	344	0.0058	-20	c.538 others(35): Show c.538+474_538+493delTATATATATATATAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956967	CTCTCTAT others(13): Show CTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02109.hp1 HG02683.hp2 others(1): Show HG01928.hp2 HG02109.hp1 HG02683.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0011 a0001c0003 a0002c0002 a0002c0011	a0001c0003t0024 a0002c0002t0001 a0002c0011t0001 a0001c0003t0024 a0002c0002t0001 a0002c0011t0001	a0001c0003t0024g0120 a0002c0002t0001g0251 a0002c0002t0001g0306 others(1): Show a0001c0003t0024g0120 a0002c0002t0001g0251 a0002c0002t0001g0306 a0002c0011t0001g0230	4	344	0.0116	-20	c.538 others(35): Show c.538+472_538+491delTATATATATATATATAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956969	CTCTATAT others(13): Show CTCTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03927.hp2 HG04204.hp1 others(2): Show HG00597.hp2 HG03927.hp2 HG04204.hp1 NA18954.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0216 a0002c0002t0001g0237 others(2): Show a0002c0002t0001g0195 a0002c0002t0001g0216 a0002c0002t0001g0237 a0002c0002t0001g0295 a0002c0002t0001g0307	5	344	0.0145	-20	c.538 others(35): Show c.538+470_538+489delTATATATATATATATATAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956971	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01952.hp1 HG01978.hp2 HG01516.hp2 HG01952.hp1 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0067 a0002c0002t0001 a0002c0002t0067	a0002c0002t0001g0207 a0002c0002t0001g0226 a0002c0002t0067g0224 a0002c0002t0001g0207 a0002c0002t0001g0226 a0002c0002t0067g0224	3	344	0.0087	-20	c.538 others(35): Show c.538+468_538+487delTATATATATATATATATATA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX2_chr3_58500136_58542190	58510693	TATATATA others(13): Show TATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03540.hp2 HG02886.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0098 a0001c0004t0001g0101 a0001c0004t0001g0098 a0001c0004t0001g0101	2	364	0.0055	-20	c.185 others(39): Show c.1851-1688_1851-1669delGTGTATATATATATATATAT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX2_chr3_58500136_58542190	58510695	TATATATA others(13): Show TATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02055.hp2 HG02698.hp2 others(1): Show HG01928.hp2 HG02055.hp2 HG02698.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0002 a0001c0001t0001 a0001c0006t0002	a0001c0001t0001g0152 a0001c0001t0001g0214 a0001c0001t0001g0250 others(1): Show a0001c0001t0001g0152 a0001c0001t0001g0214 a0001c0001t0001g0250 a0001c0006t0002g0302	4	364	0.0110	-20	c.185 others(39): Show c.1851-1690_1851-1671delGTGTGTATATATATATATAT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX2_chr3_58500136_58542190	58510697	TATATATA others(13): Show TATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	364	0.0028	-20	c.185 others(39): Show c.1851-1692_1851-1673delGTGTGTGTATATATATATAT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX2_chr3_58500136_58542190	58510705	TATATACA others(13): Show TATATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03017.hp2 HG02257.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0198 a0001c0002t0001g0076 a0001c0002t0001g0198	2	364	0.0055	-20	c.185 others(39): Show c.1851-1700_1851-1681delGTGTGTGTGTGTGTGTATAT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX3_chr4_8361282_8445723	8395357	TGGATGCG others(13): Show TGGATGCGTGGACAGGTGGGG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0225 a0009c0013t0002g0225	1	380	0.0026	-20	c.105 others(37): Show c.1057-635_1057-616delCCCCACCTGTCCACGCATCC	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	9/17			chr4	TogoVar
ACOX3_chr4_8361282_8445723	8412411	AAAGAATG others(13): Show AAAGAATGAATGGATGGATGG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01516.hp1 HG01884.hp1 others(19): Show HG01346.hp2 HG01516.hp1 HG01884.hp1 HG02109.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02723.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03471.hp1 HG06807.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0016 others(1): Show a0001c0003 a0001c0007 a0001c0016 a0001c0021	a0001c0003t0001 a0001c0003t0005 a0001c0003t0007 others(3): Show a0001c0003t0001 a0001c0003t0005 a0001c0003t0007 a0001c0007t0003 a0001c0016t0001 a0001c0021t0001	a0001c0003t0001g0246 a0001c0003t0001g0247 a0001c0003t0001g0248 others(19): Show a0001c0003t0001g0246 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0265 a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0005g0254 a0001c0003t0005g0255 a0001c0003t0005g0256 a0001c0003t0005g0257 a0001c0003t0005g0258 a0001c0003t0007g0266 a0001c0007t0003g0263 a0001c0007t0003g0264 a0001c0016t0001g0261 a0001c0021t0001g0259	22	380	0.0579	-20	c.543 others(37): Show c.543+1861_543+1880delCCATCCATCCATTCATTCTT	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	5/17			chr4	TogoVar
ACOXL_chr2_110727573_111123548	110811727	GCATACAC others(13): Show GCATACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0002 a0011c0010t0002	a0011c0010t0002g0009 a0011c0010t0002g0009	1	150	0.0067	-20	c.753 others(37): Show c.753+6335_753+6354delTACACACACACACACACACA	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110963565	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00673.hp1 others(12): Show HG00099.hp1 HG00423.hp1 HG00673.hp1 HG00673.hp2 HG01928.hp1 HG02004.hp2 HG03209.hp2 HG03688.hp2 HG04115.hp2 NA18612.hp2 NA18956.hp2 NA18962.hp1 NA18974.hp1 NA19011.hp2 NA19062.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0012 others(3): Show a0001c0001 a0001c0003 a0001c0012 a0002c0002 a0003c0004 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0012t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0003c0004t0002 a0005c0007t0004	a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0096 others(12): Show a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0096 a0001c0001t0002g0065 a0001c0001t0002g0107 a0001c0003t0001g0090 a0001c0012t0002g0131 a0002c0002t0001g0023 a0002c0002t0001g0051 a0002c0002t0002g0059 a0002c0002t0003g0139 a0002c0002t0003g0142 a0002c0002t0004g0141 a0003c0004t0002g0098 a0005c0007t0004g0144	15	150	0.1000	-20	c.106 others(41): Show c.1060-23523_1060-23504delGTGTGTGTGTGTGTGTGTGT	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACSBG1_chr15_78162468_78239565	78215724	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03209.hp1 NA19030.hp1 HG02717.hp2 HG03209.hp1 NA19030.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0019 a0003c0004 a0001c0001 a0002c0019 a0003c0004	a0001c0001t0022 a0002c0019t0005 a0003c0004t0003 a0001c0001t0022 a0002c0019t0005 a0003c0004t0003	a0001c0001t0022g0196 a0002c0019t0005g0175 a0003c0004t0003g0343 a0001c0001t0022g0196 a0002c0019t0005g0175 a0003c0004t0003g0343	3	350	0.0086	-20	c.132 others(37): Show c.132-7642_132-7623delTTCTTTCTTTCTTTCTTTCT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13			chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78215776	AAGAAAGA others(13): Show AAGAAAGAAAGAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18977.hp1 NA18986.hp1 NA18966.hp2 NA18977.hp1 NA18986.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0232 a0002c0005t0006g0233 a0002c0005t0006g0254 a0002c0005t0006g0232 a0002c0005t0006g0233 a0002c0005t0006g0254	3	350	0.0086	-20	c.132 others(37): Show c.132-7694_132-7675delCTTTCTTTCTCTTTCTTTCT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13			chr15	TogoVar
ACSBG2_chr19_6130667_6198091	6184832	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02109.hp1 HG02258.hp1 others(11): Show HG02004.hp2 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03669.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0020 a0002c0002 a0003c0004 others(1): Show a0001c0020 a0002c0002 a0003c0004 a0003c0012	a0001c0020t0001 a0002c0002t0001 a0003c0004t0002 others(1): Show a0001c0020t0001 a0002c0002t0001 a0003c0004t0002 a0003c0012t0002	a0001c0020t0001g0051 a0002c0002t0001g0101 a0002c0002t0001g0102 others(11): Show a0001c0020t0001g0051 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0124 a0002c0002t0001g0129 a0002c0002t0001g0226 a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0008 a0003c0004t0002g0010 a0003c0004t0002g0011 a0003c0004t0002g0012 a0003c0004t0002g0131 a0003c0012t0002g0197	14	262	0.0534	-20	c.132 others(37): Show c.1323-583_1323-564delAAAAAAAAAAAAAAAAAAAA	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSL3_chr2_222856036_222949639	222902048	TGTTACTT others(13): Show TGTTACTTGTTAAATACATGC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	252	0.0040	-20	c.-41 others(37): Show c.-41+1271_-41+1290delTACTTGTTAAATACATGCGT	ACSL3	ENSG00000123983.15	transcript	ENST00000357430.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACSL5_chr10_112369116_112433376	112401786	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp2 HG02976.hp2 HG02809.hp1 HG02895.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0099 a0001c0001t0001g0001 a0001c0001t0002g0099	3	364	0.0082	-20	c.266 others(37): Show c.266-2688_266-2669delTCTTTCTTTCTTTCTTTCTT	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112401827	TCTTTCTT others(13): Show TCTTTCTTTCTTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(7): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00639.hp1 HG02135.hp1 NA18965.hp2 NA19004.hp2 NA19066.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0002 a0001c0001 a0001c0012 a0002c0002	a0001c0001t0001 a0001c0012t0001 a0002c0002t0003 a0001c0001t0001 a0001c0012t0001 a0002c0002t0003	a0001c0001t0001g0016 a0001c0001t0001g0208 a0001c0001t0001g0224 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0208 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0287 a0001c0012t0001g0282 a0002c0002t0003g0039 a0002c0002t0003g0042 a0002c0002t0003g0049 a0002c0002t0003g0056	10	364	0.0275	-20	c.266 others(37): Show c.266-2680_266-2661delTCTTTCTTTCTTCCTTCCTT	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSM1_chr16_20618235_20702680	20627869	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp1 others(38): Show HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00621.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp2 HG01167.hp1 HG01496.hp2 HG01516.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02148.hp1 HG02293.hp1 HG02300.hp1 HG02683.hp2 HG02895.hp2 HG03239.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18945.hp1 NA18961.hp2 NA18967.hp2 NA18981.hp2 NA18990.hp1 NA19009.hp1 NA19012.hp2 NA19055.hp2 NA19077.hp2 NA19081.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 others(1): Show a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0003t0005	a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 others(38): Show a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0040 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0106 a0001c0002t0001g0113 a0001c0002t0001g0123 a0001c0002t0001g0165 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0192 a0001c0002t0001g0211 a0001c0002t0001g0278 a0001c0002t0001g0308 a0001c0002t0006g0006 a0001c0003t0001g0129 a0001c0003t0001g0135 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0142 a0001c0003t0001g0174 a0001c0003t0005g0033	41	318	0.1289	-20	c.130 others(37): Show c.1300-573_1300-554delATATATATATATATATATAT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	10/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20635580	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01884.hp2 HG01934.hp1 others(53): Show HG00438.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02683.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG06807.hp1 NA18939.hp2 NA18945.hp1 NA18950.hp1 NA18954.hp1 NA18961.hp2 NA18968.hp1 NA18977.hp1 NA18981.hp1 NA18982.hp2 NA18990.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19055.hp1 NA19070.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0009	a0001c0001 a0001c0002 a0001c0016 others(5): Show a0001c0001 a0001c0002 a0001c0016 a0002c0004 a0004c0013 a0004c0014 a0007c0011 a0009c0015	a0001c0001t0002 a0001c0002t0001 a0001c0016t0001 others(5): Show a0001c0001t0002 a0001c0002t0001 a0001c0016t0001 a0002c0004t0001 a0004c0013t0001 a0004c0014t0002 a0007c0011t0002 a0009c0015t0002	a0001c0001t0002g0002 a0001c0001t0002g0074 a0001c0001t0002g0076 others(52): Show a0001c0001t0002g0002 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0090 a0001c0001t0002g0166 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0218 a0001c0001t0002g0234 a0001c0001t0002g0246 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0283 a0001c0001t0002g0287 a0001c0001t0002g0302 a0001c0001t0002g0313 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0002t0001g0024 a0001c0002t0001g0036 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0087 a0001c0002t0001g0091 a0001c0002t0001g0113 a0001c0002t0001g0160 a0001c0002t0001g0165 a0001c0002t0001g0212 a0001c0002t0001g0259 a0001c0002t0001g0278 a0001c0002t0001g0292 a0001c0002t0001g0308 a0001c0016t0001g0070 a0002c0004t0001g0081 a0002c0004t0001g0083 a0004c0013t0001g0281 a0004c0014t0002g0068 a0007c0011t0002g0229 a0009c0015t0002g0258	56	318	0.1761	-20	c.129 others(39): Show c.1299+1139_1299+1158delGAAAGAAAGAAAGAAAGAAA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	10/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20691751	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	318	0.0031	-20	c.-51 others(35): Show c.-51-532_-51-513delCACACACACACACACACACA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	1/13			chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20452487	CTGTATAT others(13): Show CTGTATATATATATACAGTTG	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0194 a0002c0002t0003g0194	1	436	0.0023	-20	c.-9+ others(33): Show c.-9+823_-9+842delGTTGTGTATATATATATACA	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSS3_chr12_81073079_81266210	81213793	TTTCTCTT others(13): Show TTTCTCTTCTCTTCTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 NA18906.hp1 HG02559.hp2 HG02572.hp2 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0150 a0001c0005t0007g0151 a0001c0005t0007g0289 a0001c0005t0007g0150 a0001c0005t0007g0151 a0001c0005t0007g0289	3	290	0.0103	-20	c.135 others(39): Show c.1355-3076_1355-3057delTCTCTTCTCTTCTCTTCTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213957	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02809.hp2 others(4): Show HG02109.hp2 HG02257.hp2 HG02809.hp2 HG03130.hp2 HG03225.hp1 NA18906.hp2 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0005 a0002c0004t0008 a0002c0003t0005 a0002c0004t0008	a0002c0003t0005g0152 a0002c0003t0005g0153 a0002c0003t0005g0154 others(4): Show a0002c0003t0005g0152 a0002c0003t0005g0153 a0002c0003t0005g0154 a0002c0003t0005g0155 a0002c0003t0005g0156 a0002c0003t0005g0157 a0002c0004t0008g0044	7	290	0.0241	-20	c.135 others(39): Show c.1355-2913_1355-2894delTTTCTTTCTTTCTTTCTTTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTA1_chr1_229426245_229439094	229435458	GTCCCTCT others(13): Show GTCCCTCTCTCTCTCTCTCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03471.hp1 HG03579.hp1 others(1): Show HG03041.hp2 HG03471.hp1 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	4	450	0.0089	-20	c.-14 others(31): Show c.-1487_-1468delGAGAGAGAGAGAGAGAGGGA	ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding		1365		chr1	TogoVar
ACTA1_chr1_229426245_229439094	229435461	CCTCTCTC others(13): Show CCTCTCTCTCTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01934.hp1 others(2): Show HG01070.hp1 HG01070.hp2 HG01934.hp1 HG03017.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0001	5	450	0.0111	-20	c.-14 others(31): Show c.-1490_-1471delAGAGAGAGAGAGAGAGAGAG	ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding		1368		chr1	TogoVar
ACTG2_chr2_73888008_73924865	73896235	CAGCTCCT others(13): Show CAGCTCCTAGGATGAGGAGAA	C C	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA19057.hp1 NA18956.hp2 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0119 a0001c0002t0002g0218 a0001c0002t0002g0119 a0001c0002t0002g0218	2	416	0.0048	-20	c.-37 others(37): Show c.-37+3187_-37+3206delCTCCTAGGATGAGGAGAAAG	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904765	GTGTGTGT others(13): Show GTGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03516.hp2 HG03654.hp2 others(2): Show HG01074.hp2 HG03516.hp2 HG03654.hp2 NA18946.hp2 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0002c0004t0001 a0001c0001t0001 a0001c0001t0003 a0002c0004t0001	a0001c0001t0001g0099 a0001c0001t0001g0136 a0001c0001t0001g0320 others(2): Show a0001c0001t0001g0099 a0001c0001t0001g0136 a0001c0001t0001g0320 a0001c0001t0003g0255 a0002c0004t0001g0131	5	416	0.0120	-20	c.255 others(37): Show c.255+2279_255+2298delGTGTGTGTGTGTATATATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904767	GTGTGTGT others(13): Show GTGTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(111): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02273.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02683.hp1 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19055.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp1 NA19089.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(103): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0273 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0319 a0001c0001t0001g0327 a0001c0001t0001g0335 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0360 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0378 a0001c0001t0002g0311 a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0033 a0001c0001t0003g0063 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0080 a0001c0001t0003g0089 a0001c0001t0003g0103 a0001c0001t0003g0105 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0151 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0204 a0001c0001t0003g0209 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0259 a0001c0001t0003g0261 a0001c0001t0003g0317 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0326 a0001c0001t0003g0376 a0001c0001t0003g0379 a0001c0001t0004g0073 a0001c0001t0004g0110 a0001c0001t0005g0098 a0001c0005t0001g0390	114	416	0.2740	-20	c.255 others(37): Show c.255+2281_255+2300delGTGTGTGTGTATATATATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904769	GTGTGTGT others(13): Show GTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01175.hp2 HG02630.hp1 others(7): Show HG00558.hp1 HG01175.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 NA18522.hp2 NA18944.hp2 NA18956.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0003t0004	a0001c0001t0001g0064 a0001c0001t0001g0203 a0001c0001t0001g0352 others(7): Show a0001c0001t0001g0064 a0001c0001t0001g0203 a0001c0001t0001g0352 a0001c0001t0001g0386 a0001c0001t0001g0389 a0001c0001t0003g0101 a0001c0001t0003g0140 a0001c0001t0003g0260 a0001c0001t0006g0249 a0001c0003t0004g0049	10	416	0.0240	-20	c.255 others(37): Show c.255+2283_255+2302delGTGTGTGTATATATATATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904771	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03471.hp1 HG02145.hp2 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0048 a0001c0003t0004g0050 a0001c0003t0004g0048 a0001c0003t0004g0050	2	416	0.0048	-20	c.255 others(37): Show c.255+2285_255+2304delGTGTGTATATATATATATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904775	GTGTATAT others(13): Show GTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG01169.hp1 others(2): Show HG01109.hp2 HG01167.hp2 HG01169.hp1 HG02258.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0027 a0001c0001t0005g0025 a0001c0001t0005g0026 others(2): Show a0001c0001t0001g0027 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0374 a0001c0001t0005g0388	5	416	0.0120	-20	c.255 others(37): Show c.255+2289_255+2308delGTATATATATATATATATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar

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