Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
WDR87_chr19_37879823_37911594	37881038	A A	AATATATA others(166): Show AATATATATAATATATATAATATATATATAATATATATATATTATATATA TTATATATTATATATATAATATATATAATATATATATTATATATATAATA TATATATTTAATATATATATTATATATATAATATATATATTTAATATATA TATTATATATATAATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0175 a0005c0005t0001g0175	1	330	0.0030	173	c.38 others(184): Show c.3893_*3894insAATATATATATTATATATATAATATATATATTAA ATATATATATTATATATATAATATATATATTAAATATATATATTATATAT ATAATATATATATTATATATATTATATATATAATATATAATATATATAAT ATATATATATTATATATATATTATATATATTATATATAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3784		chr19	TogoVar
XPR1_chr1_180627022_180895279	180656475	C C	CATTATAT others(166): Show CATTATATATAATATTTATTTATATATAATATATATATTATATATAATAT TTATATATTATATATAATATATATATATTATATATAATATATATATATTA TATATAATATATATATATTATATATAATATTTATATATTATATATAATAT ATATATTATATATAATATTTATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	330	0.0030	173	c.69+ others(190): Show c.69+24223_69+24224insTTATATATAATATATATATTATATATAA TATTTATATATTATATATAATATATATATATTATATATAATATATATATA TTATATATAATATATATATATTATATATAATATTTATATATTATATATAA TATATATATTATATATAATATTTATATATTATATATAATATTTAT	XPR1	ENSG00000143324.14	transcript	ENST00000367590.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
XPR1_chr1_180627022_180895279	180656475	C C	CATTATAT others(166): Show CATTATATATAATATTTATTTATATATAATATATATATTATATATAATAT TTATATATTATATATAATATATATATATTATATATAATATTTATATATTA TATATAATATATATATATTATATATAATATTTATATATTATATATAATAT ATATATTATATATAATATTTATAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18950.hp2 NA18957.hp1 others(6): Show NA18949.hp1 NA18950.hp2 NA18957.hp1 NA18969.hp1 NA18987.hp2 NA19004.hp1 NA19011.hp2 NA19074.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0221 others(6): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0003g0227	9	330	0.0273	173	c.69+ others(190): Show c.69+24223_69+24224insTTATATATAATATATATATTATATATAA TATTTATATATTATATATAATATATATATATTATATATAATATTTATATA TTATATATAATATATATATATTATATATAATATTTATATATTATATATAA TATATATATTATATATAATATTTATATATTATATATAATATTTAT	XPR1	ENSG00000143324.14	transcript	ENST00000367590.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZC3H12B_chrX_65029826_65512887	65202135	T T	TACATATA others(166): Show TACATATAATATATATTATATGTAATATATATATTTTCTATAATATATAT TATATGTAATATATATATTTTCTATAATATATATTATATGTAATATATAT TTTCTATAATATATATTATATGTAATATATATTTTCTATAATATATATTA TATGTAATATATATTTTCTATAAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0130 a0001c0001t0005g0130	1	165	0.0061	173	c.-56 others(196): Show c.-568+126223_-568+126224insACATATAATATATATTATATGT AATATATATATTTTCTATAATATATATTATATGTAATATATATATTTTCT ATAATATATATTATATGTAATATATATTTTCTATAATATATATTATATGT AATATATATTTTCTATAATATATATTATATGTAATATATATTTTCTATAA C	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	2/9			chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65202142	A A	AATATATA others(166): Show AATATATATTATATGTAATATATATATTTTCTATAATATATATTATATGT AATATATATATTTTCTATAATATATATTATATGTAATATATATTTTCTAT AATATATATTATATGTAATATATATTTTCTATAATATATATTATATGTAA TATATATTTTCTATAACATATATT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0005 a0001c0001t0013g0005	1	165	0.0061	173	c.-56 others(196): Show c.-568+126234_-568+126235insATATTATATGTAATATATATAT TTTCTATAATATATATTATATGTAATATATATATTTTCTATAATATATAT TATATGTAATATATATTTTCTATAATATATATTATATGTAATATATATTT TCTATAATATATATTATATGTAATATATATTTTCTATAACATATATTATA T	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF224_chr19_44089361_44114826	44110999	T T	TTGACCCC others(166): Show TTGACCCCTGCACCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0004 a0007c0013t0004	a0007c0013t0004g0033 a0007c0013t0004g0033	1	424	0.0024	173	c.27 others(184): Show c.2715_*2716insTGACCCCTGCACCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC	ZNF224	ENSG00000267680.6	transcript	ENST00000693561.1	protein_coding		1174		chr19	TogoVar
ZNF225_chr19_44108399_44139822	44110999	T T	TTGACCCC others(166): Show TTGACCCCTGCACCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0015 a0007c0007t0015	a0007c0007t0015g0021 a0007c0007t0015g0021	1	404	0.0025	173	c.-26 others(184): Show c.-2639_-2638insTGACCCCTGCACCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC	ZNF225	ENSG00000256294.8	transcript	ENST00000262894.11	protein_coding		2399		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62371269	C C	CATATATA others(166): Show CATATATATGATATATATGATATATATCTCATATATATATCATATATATG ATATATATCTCATATATATATCATATATATGATATATATCTCATATATAT ATCATATATATGATATATATCTCATATATATATCATATATATGATATATA TCTCATATATATCATATATATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	350	0.0029	173	c.-32 others(184): Show c.-3203_-3202insATATATATGATATATATGATATATATCTCATATA TATATCATATATATGATATATATCTCATATATATATCATATATATGATAT ATATCTCATATATATATCATATATATGATATATATCTCATATATATATCA TATATATGATATATATCTCATATATATCATATATATGAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3099		chr10	TogoVar
ZNF511_chr10_133303914_133318161	133316676	C C	CCCCCCCC others(166): Show CCCCCCCCCCCCACACACACACACAAACAGATGGAAAGACTGCACCCTGC CACAGGACACAGAGATGGAAAGACCACACCCACCCCCCAGACACAGAGAT GGAAAGACCACCCCCGCAAGACACAGAGATGGAAAGACCATACCCCCCCA GGACACAGCGATGGAAAGACCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	282	0.0036	173	c.38 others(184): Show c.3810_*3811insCCCCCCCCCCCACACACACACACAAACAGATGGA AAGACTGCACCCTGCCACAGGACACAGAGATGGAAAGACCACACCCACCC CCCAGACACAGAGATGGAAAGACCACCCCCGCAAGACACAGAGATGGAAA GACCATACCCCCCCAGGACACAGCGATGGAAAGACCACA	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		3516		chr10	TogoVar
ZNF512B_chr20_63951704_63974930	63970942	C C	CCTTCCTT others(166): Show CCTTCCTTCCTTTTCTCTTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCT CCCTTCCTTCTCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCTTCCTTCCT TTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCC TCCCTCCCTACCTCCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0045 a0001c0005t0002g0045	1	356	0.0028	173	c.-11 others(184): Show c.-1132_-1131insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGGAGGGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAAGAGAAAAGGAAGGAAG	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding		1013		chr20	TogoVar
ZNF512B_chr20_63951704_63974930	63970942	C C	CCTTCCTT others(166): Show CCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCT CCCTTCCTTCTCTTCCTTCCCTTCCCTTCCTCCCTCCCTTCTTCCTTCCT TTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCC TCCCTCCCTACCTCCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(228): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0007 a0009 a0010 a0011 a0013	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0023 a0001c0025 a0001c0026 a0001c0027 a0002c0004 a0005c0010 a0007c0024 a0009c0020 a0010c0022 a0011c0021 a0013c0028	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(29): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0022 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0023 a0001c0006t0002 a0001c0007t0001 a0001c0007t0016 a0001c0009t0001 a0001c0015t0017 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0023t0001 a0001c0025t0001 a0001c0026t0001 a0001c0027t0001 a0002c0004t0002 a0005c0010t0002 a0007c0024t0001 a0009c0020t0001 a0010c0022t0001 a0011c0021t0001 a0013c0028t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(104): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0166 a0001c0001t0006g0036 a0001c0001t0006g0051 a0001c0001t0007g0039 a0001c0001t0008g0028 a0001c0001t0009g0034 a0001c0001t0011g0096 a0001c0001t0011g0123 a0001c0001t0015g0092 a0001c0001t0022g0088 a0001c0002t0002g0064 a0001c0003t0001g0041 a0001c0003t0001g0070 a0001c0003t0001g0072 a0001c0003t0001g0132 a0001c0003t0001g0167 a0001c0003t0002g0065 a0001c0003t0002g0066 a0001c0003t0006g0129 a0001c0003t0006g0130 a0001c0003t0023g0069 a0001c0006t0002g0007 a0001c0007t0001g0017 a0001c0007t0016g0075 a0001c0009t0001g0135 a0001c0009t0001g0136 a0001c0009t0001g0137 a0001c0015t0017g0074 a0001c0017t0001g0087 a0001c0018t0001g0099 a0001c0019t0001g0100 a0001c0023t0001g0117 a0001c0025t0001g0125 a0001c0026t0001g0126 a0001c0027t0001g0127 a0002c0004t0002g0004 a0002c0004t0002g0153 a0005c0010t0002g0155 a0005c0010t0002g0156 a0007c0024t0001g0097 a0009c0020t0001g0114 a0010c0022t0001g0090 a0011c0021t0001g0118 a0013c0028t0001g0138	231	356	0.6489	173	c.-11 others(184): Show c.-1132_-1131insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAG	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding		1013		chr20	TogoVar
ZNF512B_chr20_63951704_63974930	63970942	C C	CCTTCCTT others(166): Show CCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCT CCCTTCCTTCTCTTCCTTCCCTTCCCTTCCTCCCTCCCTTCTTCCTTCCT TTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCC TCCCTCCCTTCCTCCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 NA19002.hp1 HG00738.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0008 a0002c0004t0002g0168 a0001c0001t0001g0008 a0002c0004t0002g0168	2	356	0.0056	173	c.-11 others(184): Show c.-1132_-1131insAGAAGGAAGGGAGGAAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAG	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding		1013		chr20	TogoVar
ZNF554_chr19_2814868_2841735	2818263	A A	ACCAAGGA others(166): Show ACCAAGGATGACTAAGGTCAGATCAGGTGACCAAGGATGACTAAGGTCAG AGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTA AGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGG ATGACTAAGGTCAGAGCAGGTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	410	0.0024	173	c.-18 others(184): Show c.-1809_-1808insCCAAGGATGACTAAGGTCAGATCAGGTGACCAAG GATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGG TGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCA GAGCAGGTGACAAGGATGACTAAGGTCAGAGCAGGTGAC	ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding		1604		chr19	TogoVar
ZNF587B_chr19_57825299_57851238	57827308	C C	CACAAAAA others(166): Show CACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03139.hp1 HG03516.hp1 HG02922.hp1 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0057 a0001c0004t0028 a0001c0004t0057	a0001c0004t0028g0057 a0001c0004t0057g0189 a0001c0004t0028g0057 a0001c0004t0057g0189	3	432	0.0069	173	c.-32 others(184): Show c.-3221_-3220insACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGC CTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGTACTCCAGCCT GGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA	ZNF587B	ENSG00000269343.9	transcript	ENST00000594901.2	protein_coding		2990		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975400	T T	TATAAATA others(167): Show TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0066 a0002c0004t0002g0066	1	306	0.0033	174	c.130 others(193): Show c.1308+1176_1308+1177insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC2_chr10_99777640_99857594	99814525	A A	ATACACAC others(167): Show ATACACACACATATGTGTATATACACATATACACACATATGTGTATATAC ACATATACACACATATGTGTATATACACATATACACACATATGTGTATAT ACACATATACACACATATGTGTATATACACATATACACACATATGTGTAT ATACACATATACACACACATATGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02922.hp1 others(4): Show HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03453.hp1 NA18984.hp2 NA19030.hp1 NA20129.hp2	a0001 a0022 a0001 a0022	a0001c0001 a0022c0028 a0001c0001 a0022c0028	a0001c0001t0001 a0001c0001t0005 a0022c0028t0001 a0001c0001t0001 a0001c0001t0005 a0022c0028t0001	a0001c0001t0001g0220 a0001c0001t0001g0313 a0001c0001t0005g0284 others(4): Show a0001c0001t0001g0220 a0001c0001t0001g0313 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0301 a0001c0001t0005g0316 a0022c0028t0001g0280	7	336	0.0208	174	c.209 others(193): Show c.2094+1383_2094+1384insCACACACATATGTGTATATACACATA TACACACATATGTGTATATACACATATACACACATATGTGTATATACACA TATACACACATATGTGTATATACACATATACACACATATGTGTATATACA CATATACACACATATGTGTATATACACATATACACACACATATGTGTA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABR_chr17_998519_1184981	1023094	A A	AGCCTCTG others(167): Show AGCCTCTGCCGGCCCCACGTCCACTGCAGAGCCACTGCCGGCCCCACGTC CACTCCAGCGCCTCTGCCGGCCCCACGTCCACTCCAGCGCCTCTGCCGGC CCCACGTCCACTCCAGCGCCTCTGCCGGCCCCACGTCCACTCCAGCGCCT CTGCCGGCCCCACGTCCACTCCAGC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0317 a0001c0001t0007g0317	1	337	0.0030	174	c.179 others(193): Show c.1792-9931_1792-9930insGCTGGAGTGGACGTGGGGCCGGCAGA GGCGCTGGAGTGGACGTGGGGCCGGCAGAGGCGCTGGAGTGGACGTGGGG CCGGCAGAGGCGCTGGAGTGGACGTGGGGCCGGCAGAGGCGCTGGAGTGG ACGTGGGGCCGGCAGTGGCTCTGCAGTGGACGTGGGGCCGGCAGAGGC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118627	C C	CCCAGCGT others(167): Show CCCAGCGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCC TGAGTCCCTCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATC CCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCA GCGTTATCCCTGAGCCTGAGTTCCT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0142 a0001c0001t0006g0142	1	337	0.0030	174	c.246 others(191): Show c.246+6555_246+6556insAGGAACTCAGGCTCAGGGATAACGCTGG GGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGAT AACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGAGGGACTCAGGC TCAGGCAATAACGCTGGGAGGGACTCAGGCTCAGGGATAACGCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118681	T T	TTCCTCCC others(167): Show TTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCCAGCGTTATCCCT GAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCG TTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCT CCCCAGCGTTATCCCTGAGCCTGAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0156 a0001c0001t0075g0156	1	337	0.0030	174	c.246 others(191): Show c.246+6501_246+6502insCTCAGGCTCAGGGATAACGCTGGGGAGA ACTCAGGCTCAGGGATAACGCTGGGGAGGACTCAGGCTCAGGGATAACGC TGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGGAGAACTCAGGCTCAGG GATAACGCTGGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153721	A A	ACGGGAGG others(167): Show ACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAG GCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGG GGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGG AGGGCTGGGGACCCAGGCACACCTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	337	0.0030	174	c.61+ others(191): Show c.61+25945_61+25946insCAGGTGTGCCTGGGTCCCCAGCCCTCCC GCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCA GCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153808	A A	ACGGGAGG others(167): Show ACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAG GCACACCTGCGGGAGGGCTGGGGACCCAGGCACACCTGCGGGAGGGCTGG GGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGG AGGGCTGGGGATCCAGGCACACCTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG00673.hp2 others(50): Show HG00408.hp2 HG00642.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01928.hp1 HG01975.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02300.hp2 HG02572.hp2 HG02683.hp1 HG02735.hp1 HG02970.hp2 HG03195.hp2 HG03491.hp1 HG03491.hp2 HG04199.hp1 HG04204.hp1 NA18940.hp1 NA18944.hp2 NA18954.hp1 NA18970.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18999.hp2 NA19000.hp1 NA19010.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19066.hp1 NA19070.hp1 NA19085.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0033 a0001c0001t0036 a0001c0001t0044 a0001c0001t0049 a0001c0001t0069 a0001c0001t0072 a0001c0001t0081 a0001c0001t0082 a0001c0001t0087 a0001c0003t0025 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0061 a0001c0001t0001g0063 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0089 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0202 a0001c0001t0002g0088 a0001c0001t0002g0180 a0001c0001t0003g0092 a0001c0001t0003g0150 a0001c0001t0003g0168 a0001c0001t0003g0200 a0001c0001t0003g0222 a0001c0001t0004g0290 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0254 a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0278 a0001c0001t0005g0291 a0001c0001t0005g0296 a0001c0001t0006g0077 a0001c0001t0006g0141 a0001c0001t0006g0147 a0001c0001t0006g0208 a0001c0001t0007g0333 a0001c0001t0009g0004 a0001c0001t0010g0274 a0001c0001t0012g0093 a0001c0001t0013g0048 a0001c0001t0013g0049 a0001c0001t0015g0275 a0001c0001t0021g0272 a0001c0001t0022g0047 a0001c0001t0033g0264 a0001c0001t0036g0044 a0001c0001t0044g0021 a0001c0001t0049g0193 a0001c0001t0069g0153 a0001c0001t0072g0175 a0001c0001t0081g0253 a0001c0001t0082g0302 a0001c0001t0087g0311 a0001c0003t0025g0006 a0001c0003t0025g0009 a0001c0010t0001g0139	53	337	0.1573	174	c.61+ others(191): Show c.61+25858_61+25859insCAGGTGTGCCTGGATCCCCAGCCCTCCC GCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCA GCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153808	A A	ACGGGAGG others(167): Show ACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAG GCACACCTGCGGGAGGGCTGGGGACCCAGGCACACCTGCGGGAGGGCTGG GGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGG AGGGCTGGGGGTCCAGGCACACCTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0192	1	337	0.0030	174	c.61+ others(191): Show c.61+25858_61+25859insCAGGTGTGCCTGGACCCCCAGCCCTCCC GCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCA GCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288831	T T	TCCCCCGT others(167): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	295	0.0034	174	c.47 others(185): Show c.4732_*4733insGGACGGGGCAGAGACACGGGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3559		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288961	T T	TCCCGTGT others(167): Show TCCCGTGTCCCTGCCCCGTCCCCCGTGTCCCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCTGTCCCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	295	0.0034	174	c.46 others(185): Show c.4602_*4603insGGACGGAGCAGGGACACGGGACGGGGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCA GAGACACGGGGGACAGAGCAGAGACACGGGGGACGGAGCAGAGACACGGG GGACGGGGCAGGGACACGGGGGACGGGGCAGGGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3429		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169769250	G G	GCCCCACC others(167): Show GCCCCACCCCCCCACAACACCCCCAGCCCCGCCGCCCCCAGCCACCCCAG CCCCACCCCTCCAACCTCCGCAGTCCCACGCCCCGCCAACCTCCCCAGCC CCACCCCACCCCACCCCCACCCCATCCCCACCCCACCCTCCCCACCCCAT CCCCACCCCACCCTCCCCACCCCCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	418	0.0024	174	c.200 others(187): Show c.200+70_200+71insTGGGGGTGGGGAGGGTGGGGTGGGGATGGGGT GGGGAGGGTGGGGTGGGGATGGGGTGGGGGTGGGGTGGGGTGGGGCTGGG GAGGTTGGCGGGGCGTGGGACTGCGGAGGTTGGAGGGGTGGGGCTGGGGT GGCTGGGGGCGGCGGGGCTGGGGGTGTTGTGGGGGGGTGGGG	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	1/1			chr3	TogoVar
ADAM9_chr8_38991973_39110261	39045473	C C	CACACACC others(167): Show CACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGTG TACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTG TGTACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGTG TACACACCTATATGTGCGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	332	0.0030	174	c.130 others(193): Show c.1302+3378_1302+3379insGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGT GTGTACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGT GTACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS3_chr4_72275969_72574221	72530056	A A	AATATATA others(167): Show AATATATAATATATTATATTTATATATATATAATATATTATATTTATATA TAATATATAATATATTATATATTATATATAATATATAATATATTATATTT ATATATATATAATATATTATATTTATATATATATAATATATTATATTTAT ATATAATATATAATATATTATATTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0003 a0004c0010t0003	a0004c0010t0003g0039 a0004c0010t0003g0039	1	182	0.0055	174	c.504 others(193): Show c.504+18421_504+18422insAAATATAATATATTATATATTATATA TAAATATAATATATTATATATATATAAATATAATATATTATATATATATA AATATAATATATTATATATTATATATAATATATAATATATTATATATTAT ATATAAATATAATATATTATATATATATAAATATAATATATTATATAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903948	A A	AGGAAGGA others(167): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	274	0.0037	174	c.170 others(193): Show c.1700+4217_1700+4218insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGAGAGAG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADAP1_chr7_892900_959680	902455	C C	CCTCAAAA others(167): Show CCTCAAAAAAAAAAAAAAAAAAATGCCTGGGCGTGGTGGTGCGCACCTAT AGTTCCAGCTACTTGGGAGGTTGGGAGGCTGAGGCAAGAAAATCACTTGA ACCCAGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCATTGCACTCCAG CCTGGGCAACACAGCAAGACTCGAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01993.hp2 HG01346.hp1 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0008 a0001c0001t0003g0003 a0001c0001t0001g0008 a0001c0001t0003g0003	2	14	0.1429	174	c.648 others(191): Show c.648+1670_648+1671insATCGAGTCTTGCTGTGTTGCCCAGGCTG GAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCTGGGTTCA AGTGATTTTCTTGCCTCAGCCTCCCAACCTCCCAAGTAGCTGGAACTATA GGTGCGCACCACCACGCCCAGGCATTTTTTTTTTTTTTTTTTTGAG	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	6/10			chr7	TogoVar
ADAP1_chr7_892900_959680	902455	C C	CCTCAAAA others(167): Show CCTCAAAAAAAAAAAAAAAAAAATGCCTGGGCGTGGTGGTGCGCGCCTAT AGTTCCAGCTACTTGGGAGGTTGGGAGGCTGAGGCAAGAAAATCACTTGA ACCCAGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCATTGCACTCCAG CCTGGGCAACACAGCAAGACTCGAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02280.hp1 HG03579.hp2 others(3): Show HG01993.hp1 HG02280.hp1 HG03579.hp2 HG03654.hp2 HG04115.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0003t0004g0011	6	14	0.4286	174	c.648 others(191): Show c.648+1670_648+1671insATCGAGTCTTGCTGTGTTGCCCAGGCTG GAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCTGGGTTCA AGTGATTTTCTTGCCTCAGCCTCCCAACCTCCCAAGTAGCTGGAACTATA GGCGCGCACCACCACGCCCAGGCATTTTTTTTTTTTTTTTTTTGAG	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	6/10			chr7	TogoVar
ADGB_chr6_146593972_146820462	146615248	T T	TAAGAATT others(167): Show TAAGAATTCACCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0029 a0029	a0029c0045 a0029c0045	a0029c0045t0002 a0029c0045t0002	a0029c0045t0002g0023 a0029c0045t0002g0023	1	276	0.0036	174	c.74+ others(191): Show c.74+16144_74+16145insCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTCAC	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRL3_chr4_61195326_62083335	61847965	A A	ATATATAA others(167): Show ATATATAATATAAAATATATTATATATAATATAAAATATATTATATATAA TATAAAATATATTATACATATAATATAAAATATATTATACATATAATATA AAATATATTATATATATAATATAAAATATATTATATATATAATATAAAAT ATATTATATATAATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02280.hp1 HG02486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0023 a0001c0008t0004g0029 a0001c0008t0004g0023 a0001c0008t0004g0029	2	58	0.0345	174	c.148 others(195): Show c.1480+34082_1480+34083insATATAAAATATATTATATATAATA TAAAATATATTATATATAATATAAAATATATTATACATATAATATAAAAT ATATTATACATATAATATAAAATATATTATATATATAATATAAAATATAT TATATATATAATATAAAATATATTATATATAATATAAAATATATTATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADM2_chr22_50476543_50491437	50488546	C C	CCCCCCCC others(167): Show CCCCCCCCACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGG ATACTACCTGGGGGACAGGCCAGTGCACCCCCCACGGCCCCCCCCACGGC TGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGGATACTACCTGGGG GACAGGCCAGTGCACCCCCCCACGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG03471.hp2 HG01074.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0084 a0001c0001t0003 a0001c0001t0084	a0001c0001t0003g0001 a0001c0001t0084g0001 a0001c0001t0003g0001 a0001c0001t0084g0001	2	446	0.0045	174	c.56 others(185): Show c.5643_*5644insCCCCCCCACGGCTGCCTGTCCCTCTGGTGGCCTC GGTGCTTGGCCTGGGATACTACCTGGGGGACAGGCCAGTGCACCCCCCAC GGCCCCCCCCACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTG GGATACTACCTGGGGGACAGGCCAGTGCACCCCCCCACGG	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding		2110		chr22	TogoVar
ADM2_chr22_50476543_50491437	50488546	C C	CCCCCCCC others(167): Show CCCCCCCCACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGG ATACTACCTGGGGGACAGGCCAGTGCACCCCCCCACGGCCCCCCCACGGC TGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGGATACTACCTGGGG GACAGGCCAGTGCACCCCCCCACGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA19005.hp2 NA18977.hp1 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0060 a0002c0002t0010 a0002c0002t0060	a0002c0002t0010g0001 a0002c0002t0060g0001 a0002c0002t0010g0001 a0002c0002t0060g0001	2	446	0.0045	174	c.56 others(185): Show c.5643_*5644insCCCCCCCACGGCTGCCTGTCCCTCTGGTGGCCTC GGTGCTTGGCCTGGGATACTACCTGGGGGACAGGCCAGTGCACCCCCCCA CGGCCCCCCCACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTG GGATACTACCTGGGGGACAGGCCAGTGCACCCCCCCACGG	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding		2110		chr22	TogoVar
ADM2_chr22_50476543_50491437	50488549	C C	CCCCCACG others(167): Show CCCCCACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGGATA CTACCTGGGGGACAGGCCAGTGCACCCCCCACGGCCCCCCCCCACGGCTG CCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGGATACTACCTGGGGGA CAGGCCAGTGCACCCCCCACGGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0001 a0001c0001t0067g0001	1	446	0.0022	174	c.56 others(185): Show c.5646_*5647insCCCCACGGCTGCCTGTCCCTCTGGTGGCCTCGGT GCTTGGCCTGGGATACTACCTGGGGGACAGGCCAGTGCACCCCCCACGGC CCCCCCCCACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGG ATACTACCTGGGGGACAGGCCAGTGCACCCCCCACGGCCT	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding		2113		chr22	TogoVar
AGMO_chr7_15195317_15567015	15529794	C C	CTATATAC others(167): Show CTATATACATATTTCCATATAGATATTCTATATACGTATTTCCATATAGA TATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATA TAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTC CATATAGATATTCTATATACGTATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp1 HG03195.hp2 others(2): Show HG02486.hp2 HG02622.hp1 HG03195.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0001 a0001c0007t0001 a0001c0007t0003 a0001c0005t0001 a0001c0007t0001 a0001c0007t0003	a0001c0005t0001g0018 a0001c0007t0001g0015 a0001c0007t0001g0016 others(2): Show a0001c0005t0001g0018 a0001c0007t0001g0015 a0001c0007t0001g0016 a0001c0007t0001g0017 a0001c0007t0003g0014	5	236	0.0212	174	c.409 others(193): Show c.409+14977_409+14978insAATACGTATATAGAATATCTATATGG AAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTAT ATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATAT CTATATGGAAATACGTATATAGAATATCTATATGGAAATATGTATATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	344420	G G	GGTGTGTG others(167): Show GGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGG CTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGG CTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCG GGGGGAGCTGTGTGTGTGTGGGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0083 a0004c0003t0001g0083	1	268	0.0037	174	c.62+ others(187): Show c.62+458_62+459insGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGG TGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGG TGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGA GGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	344423	A A	ATGTGTGA others(167): Show ATGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTG TGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGG GGAGCTGTGTGTGTGTGGGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG01109.hp2 others(11): Show HG00438.hp1 HG00673.hp2 HG01109.hp2 HG01243.hp1 HG02040.hp1 HG02040.hp2 HG02723.hp1 NA18946.hp1 NA18950.hp1 NA18967.hp1 NA18975.hp1 NA19012.hp1 NA19058.hp2 NA19083.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0057 a0001c0001t0064 a0002c0002t0001 a0002c0002t0006 a0005c0005t0015	a0001c0001t0001g0018 a0001c0001t0002g0100 a0001c0001t0002g0102 others(11): Show a0001c0001t0001g0018 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0114 a0001c0001t0003g0053 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0087 a0001c0001t0018g0106 a0001c0001t0057g0251 a0001c0001t0064g0128 a0002c0002t0001g0105 a0002c0002t0006g0079 a0005c0005t0015g0118	14	268	0.0522	174	c.62+ others(187): Show c.62+588_62+761dupTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTG TGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGT GTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGT GTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK8_chr9_132720578_132883284	132812530	T T	TGCCCACT others(167): Show TGCCCACTGGGATGACGGGTGAGCCGCCGCGCCCACTGGGATGACGGGTG AGCCGCCGCGCCCACTGGGATGACGGGTGAGCCGCCGCGCCCACTGGGAT GACGGGTGAGCCGCCGCGCCCACTGGGATGACGGGTGAGCCGCCGCGCCC ACTGGGATGACGGGTGAGCCGCCGC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	266	0.0038	174	c.979 others(191): Show c.979+2107_979+2108insGCGGCGGCTCACCCGTCATCCCAGTGGG CGCGGCGGCTCACCCGTCATCCCAGTGGGCGCGGCGGCTCACCCGTCATC CCAGTGGGCGCGGCGGCTCACCCGTCATCCCAGTGGGCGCGGCGGCTCAC CCGTCATCCCAGTGGGCGCGGCGGCTCACCCGTCATCCCAGTGGGC	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12			chr9	TogoVar
AK8_chr9_132720578_132883284	132821769	G G	GTGTATGT others(167): Show GTGTATGTATATACAAATATATACATATATGTGTATGTATATACAAATAT ATACATATATGTGTATGTATATACAAATATATACATATATGTGTATGTAT ATACAAATATATACATATATGTGTATGTATATACAAATATATACATATAT GTGTATGTATATACAAATATATACA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	266	0.0038	174	c.889 others(191): Show c.889+1435_889+1436insTGTATATATTTGTATATACATACACATA TATGTATATATTTGTATATACATACACATATATGTATATATTTGTATATA CATACACATATATGTATATATTTGTATATACATACACATATATGTATATA TTTGTATATACATACACATATATGTATATATTTGTATATACATACA	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
ANO2_chr12_5557655_5950259	5902827	G G	GGAGGGGA others(167): Show GGAGGGGAGGGGAGGGGAGGAGAGGAGGGGGGAGGGGAGGGGAGGAGGGG GGAGGGGAGGGGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGAGGG GAGGGGAGGGGAAGGGAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0039 a0003c0007t0001g0039	1	162	0.0062	174	c.534 others(193): Show c.534+18212_534+18213insTCCTCCCCTCCCTTCCCCTCCCCTCC CCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCCCCTCCCCTCCC CCCTCCTCCCCTCCCCTCCCCCCTCCTCTCCTCCCCTCCCCTCCCCTC	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5923081	T T	TACACACA others(167): Show TACACACACGCATACACACACACACGCACACACACACACACACGCACGCA CACACACCCACATACACACACACATGCACACATACACACACGCATACACA CACACACACATACACACACATGCACGCACACACACACCCACATACACACA CATGCACACATACACACACGCATAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0064 a0004c0008t0001g0064	1	162	0.0062	174	c.23- others(187): Show c.23-278_23-277insGTATGCGTGTGTGTATGTGTGCATGTGTGTGT ATGTGGGTGTGTGTGTGCGTGCATGTGTGTGTATGTGTGTGTGTGTGTAT GCGTGTGTGTATGTGTGCATGTGTGTGTGTATGTGGGTGTGTGTGCGTGC GTGTGTGTGTGTGTGTGCGTGTGTGTGTGTATGCGTGTGTGT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5923081	T T	TACACACA others(167): Show TACACACACGCATACACACACACACGCATACACACACACACACGCACGCA CACACACCCACATACACACACACATGCACACATACACACACGCATACACA CACACACACATACACACACATGCACGCACACACACACCCACATACACACA CATGCACACATACACACACGCATAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0066 a0004c0008t0001g0066	1	162	0.0062	174	c.23- others(187): Show c.23-278_23-277insGTATGCGTGTGTGTATGTGTGCATGTGTGTGT ATGTGGGTGTGTGTGTGCGTGCATGTGTGTGTATGTGTGTGTGTGTGTAT GCGTGTGTGTATGTGTGCATGTGTGTGTGTATGTGGGTGTGTGTGCGTGC GTGTGTGTGTGTGTATGCGTGTGTGTGTGTATGCGTGTGTGT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
AOPEP_chr9_94721699_95092159	94890575	T T	TAAAAAAT others(167): Show TAAAAAATTGTTTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	182	0.0055	174	c.136 others(195): Show c.1365-33398_1365-33397insCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTGTTTG	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AP3S2_chr15_89825599_89898994	89854900	G G	GGGGGTTG others(167): Show GGGGGTTGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0016 a0003c0004t0016	a0003c0004t0016g0304 a0003c0004t0016g0304	1	312	0.0032	174	c.345 others(193): Show c.345+16574_345+16575insACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCAACCCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854900	G G	GGGGGTTG others(167): Show GGGGGTTGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG04184.hp1 NA18966.hp2 HG01081.hp2 HG04184.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0061	3	312	0.0096	174	c.345 others(193): Show c.345+16574_345+16575insACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCAACCCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854900	G G	GGGGTTGG others(167): Show GGGGTTGGCCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0038 a0001c0001t0037g0038	1	312	0.0032	174	c.345 others(193): Show c.345+16574_345+16575insACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGGCCAACCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854900	G G	GGGGTTGG others(167): Show GGGGTTGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19080.hp1 NA18947.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0277 a0001c0001t0001g0059 a0001c0001t0001g0277	2	312	0.0064	174	c.345 others(193): Show c.345+16574_345+16575insACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCAACCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGAA others(167): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGA GAAGGAGAAGGAGAAGAAGGAGAAGAAGGAGGAGAAGGAGAAGGAGAAGG AGAAGGAGGAGAAGGAGGAGAAGGAGAAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0138 a0001c0003t0003g0138	1	192	0.0052	174	c.-41 others(195): Show c.-416-16766_-416-16765insCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTTCTCCTTCTCCTCCTTCTCCTCCTTC TCCTTCTCCTTCTCCTTCTCCTCCTTCTTCTCCTTCTTCTCCTTCTCCTT CTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(167): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATAATATATATTATATATATAATTGTATATA TAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG03225.hp1 HG03579.hp1 others(1): Show HG02965.hp2 HG03225.hp1 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0078 a0001c0001t0001g0014 a0001c0001t0001g0078	4	384	0.0104	174	c.-12 others(185): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATAATATATATTATAT ATATAATTGTATATATAATATATATTATATATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar

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