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 per page.

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
AGL_chr1_99845361_99929020	99857811	A A	AGGGGGGA others(24): Show AGGGGGGAGAGGGAGACCGTGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 NA18944.hp1 HG00597.hp1 HG00673.hp2 NA18944.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0002t0001 a0002c0003t0005 a0001c0001t0003 a0001c0002t0001 a0002c0003t0005	a0001c0001t0003g0243 a0001c0002t0001g0101 a0002c0003t0005g0092 a0001c0001t0003g0243 a0001c0002t0001g0101 a0002c0003t0005g0092	3	318	0.0094	31	c.83- others(46): Show c.83-3687_83-3657dupGGAGAGGGAGACCGTGGGGAGGGGGAGGGG G	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGL_chr1_99845361_99929020	99857835	A A	AGGGGGAG others(24): Show AGGGGGAGGGGGGAGAGGGAGACCGTGGGGAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03927.hp2 NA18964.hp2 HG03130.hp1 HG03927.hp2 NA18964.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0014 a0002c0003 a0011c0011 a0001c0014 a0002c0003 a0011c0011	a0001c0014t0016 a0002c0003t0005 a0011c0011t0014 a0001c0014t0016 a0002c0003t0005 a0011c0011t0014	a0001c0014t0016g0157 a0002c0003t0005g0052 a0011c0011t0014g0247 a0001c0014t0016g0157 a0002c0003t0005g0052 a0011c0011t0014g0247	3	318	0.0094	31	c.83- others(46): Show c.83-3657_83-3656insGAGAGGGAGACCGTGGGGAGGGGGGAGGGG G	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGL_chr1_99845361_99929020	99857841	A A	AGGGGGGA others(24): Show AGGGGGGAGAGGGAGACCGTGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0057 a0002c0003t0006g0057	1	318	0.0031	31	c.83- others(46): Show c.83-3657_83-3656insGAGAGGGAGACCGTGGGGAGGGGGAGGGGG G	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGMO_chr7_15195317_15567015	15529564	T T	TTCTATAT others(24): Show TTCTATATATAGAGTATATATAGTATATAAAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	236	0.0042	31	c.409 others(50): Show c.409+15177_409+15207dupGTTTATATACTATATATACTCTATAT ATAGA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGO3_chr1_35926105_36077500	35971060	A A	ATATAAAT others(24): Show ATATAAATTATAAATAATATATAAATTTATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01255.hp2 others(13): Show HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01884.hp2 HG02145.hp1 HG02257.hp2 HG02717.hp1 HG02809.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0011 a0001c0001t0012 a0001c0001t0026 others(5): Show a0001c0001t0011 a0001c0001t0012 a0001c0001t0026 a0001c0001t0034 a0001c0001t0084 a0001c0001t0085 a0001c0004t0011 a0001c0004t0036	a0001c0001t0011g0032 a0001c0001t0011g0044 a0001c0001t0011g0047 others(13): Show a0001c0001t0011g0032 a0001c0001t0011g0044 a0001c0001t0011g0047 a0001c0001t0011g0048 a0001c0001t0012g0031 a0001c0001t0012g0053 a0001c0001t0012g0054 a0001c0001t0012g0059 a0001c0001t0012g0060 a0001c0001t0026g0045 a0001c0001t0026g0049 a0001c0001t0034g0043 a0001c0001t0084g0252 a0001c0001t0085g0251 a0001c0004t0011g0052 a0001c0004t0036g0026	16	258	0.0620	31	c.313 others(46): Show c.313-918_313-888dupAATATATAAATTTATATTATAAATTATAAA T	AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO3_chr1_35926105_36077500	35971060	A A	ATATGAAT others(24): Show ATATGAATTATAAATAATATATAAATTTATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0033 a0001c0001t0069g0033	1	258	0.0039	31	c.313 others(46): Show c.313-961_313-960insGAATTATAAATAATATATAAATTTATATTA T	AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGRN_chr1_1015120_1061116	1029386	G G	GATCAGTG others(24): Show GATCAGTGTCTATGCAGGCAGGTGGGGGGGAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(155): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0013 a0017 a0018 a0020 a0021 a0023 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032	a0001c0001 a0001c0004 a0001c0006 others(34): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0015 a0001c0019 a0001c0023 a0001c0028 a0001c0042 a0001c0044 a0002c0005 a0002c0062 a0003c0017 a0004c0025 a0004c0026 a0004c0056 a0005c0003 a0006c0010 a0006c0030 a0007c0008 a0008c0009 a0011c0020 a0012c0021 a0013c0029 a0017c0033 a0018c0034 a0020c0038 a0021c0040 a0023c0043 a0025c0041 a0026c0039 a0027c0046 a0028c0045 a0029c0061 a0030c0049 a0031c0060 a0032c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0004t0001 a0001c0006t0001 a0001c0007t0005 a0001c0007t0008 a0001c0015t0001 a0001c0019t0001 a0001c0023t0001 a0001c0028t0006 a0001c0042t0001 a0001c0044t0001 a0002c0005t0004 a0002c0062t0011 a0003c0017t0001 a0004c0025t0002 a0004c0025t0005 a0004c0026t0002 a0004c0056t0002 a0005c0003t0002 a0006c0010t0007 a0006c0030t0001 a0007c0008t0005 a0008c0009t0004 a0011c0020t0009 a0012c0021t0001 a0013c0029t0013 a0017c0033t0001 a0018c0034t0005 a0020c0038t0001 a0021c0040t0001 a0023c0043t0001 a0025c0041t0001 a0026c0039t0001 a0027c0046t0004 a0028c0045t0004 a0029c0061t0004 a0030c0049t0001 a0031c0060t0007 a0032c0031t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(151): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0002g0121 a0001c0001t0002g0132 a0001c0001t0014g0002 a0001c0004t0001g0170 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0184 a0001c0004t0001g0193 a0001c0006t0001g0006 a0001c0006t0001g0017 a0001c0006t0001g0165 a0001c0007t0005g0167 a0001c0007t0005g0169 a0001c0007t0008g0183 a0001c0015t0001g0004 a0001c0015t0001g0196 a0001c0019t0001g0074 a0001c0019t0001g0076 a0001c0023t0001g0135 a0001c0023t0001g0136 a0001c0028t0006g0166 a0001c0028t0006g0168 a0001c0042t0001g0016 a0001c0044t0001g0008 a0002c0005t0004g0176 a0002c0005t0004g0185 a0002c0005t0004g0186 a0002c0005t0004g0187 a0002c0005t0004g0188 a0002c0062t0011g0174 a0003c0017t0001g0158 a0004c0025t0002g0029 a0004c0025t0005g0028 a0004c0026t0002g0031 a0004c0026t0002g0032 a0004c0056t0002g0030 a0005c0003t0002g0012 a0005c0003t0002g0026 a0005c0003t0002g0027 a0005c0003t0002g0077 a0005c0003t0002g0147 a0006c0010t0007g0057 a0006c0010t0007g0059 a0006c0010t0007g0060 a0006c0030t0001g0058 a0007c0008t0005g0177 a0007c0008t0005g0178 a0007c0008t0005g0190 a0007c0008t0005g0191 a0008c0009t0004g0197 a0008c0009t0004g0198 a0008c0009t0004g0199 a0011c0020t0009g0159 a0011c0020t0009g0160 a0012c0021t0001g0138 a0012c0021t0001g0139 a0013c0029t0013g0200 a0017c0033t0001g0105 a0018c0034t0005g0091 a0020c0038t0001g0148 a0021c0040t0001g0153 a0023c0043t0001g0066 a0025c0041t0001g0005 a0026c0039t0001g0092 a0027c0046t0004g0062 a0028c0045t0004g0063 a0029c0061t0004g0175 a0030c0049t0001g0110 a0031c0060t0007g0194 a0032c0031t0001g0120	158	210	0.7524	31	c.464 others(48): Show c.464-5868_464-5838dupGGGGGGGACATCAGTGTCTATGCAGGCA GGT	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGRN_chr1_1015120_1061116	1029386	G G	GATCAGTG others(24): Show GATCAGTGTCTATGCAGGCAGGTGGGGGGGAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG02451.hp1 others(10): Show HG01109.hp1 HG01243.hp2 HG02451.hp1 HG02622.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02976.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG06807.hp2 NA19030.hp2	a0001 a0022 a0001 a0022	a0001c0011 a0001c0012 a0001c0024 others(6): Show a0001c0011 a0001c0012 a0001c0024 a0001c0036 a0001c0051 a0001c0052 a0001c0053 a0001c0055 a0022c0065	a0001c0011t0006 a0001c0012t0006 a0001c0012t0017 others(7): Show a0001c0011t0006 a0001c0012t0006 a0001c0012t0017 a0001c0024t0006 a0001c0036t0006 a0001c0051t0002 a0001c0052t0006 a0001c0053t0006 a0001c0055t0012 a0022c0065t0002	a0001c0011t0006g0010 a0001c0012t0006g0056 a0001c0012t0006g0163 others(9): Show a0001c0011t0006g0010 a0001c0012t0006g0056 a0001c0012t0006g0163 a0001c0012t0017g0145 a0001c0024t0006g0079 a0001c0024t0006g0143 a0001c0036t0006g0154 a0001c0051t0002g0144 a0001c0052t0006g0021 a0001c0053t0006g0161 a0001c0055t0012g0162 a0022c0065t0002g0179	13	210	0.0619	31	c.464 others(48): Show c.464-5861_464-5860insTATCAGTGTCTATGCAGGCAGGTGGGGG GGA	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGTPBP1_chr9_85541539_85746954	85689925	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	302	0.0033	31	c.157 others(48): Show c.157+2763_157+2764insATATATATATATATATATATTTTTTTTT TTT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	3/25			chr9	TogoVar
AGXT2_chr5_34993102_35052949	34993621	G G	GTTAATTA others(24): Show GTTAATTAGTATTACTAATTTATTAAATTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0117 a0003c0012t0002g0117	1	384	0.0026	31	c.50 others(42): Show c.5097_*5098insATAAATTTAATAAATTAGTAATACTAATTAA	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding		4480		chr5	TogoVar
AHDC1_chr1_27529245_27609144	27538400	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp2 HG02922.hp1 HG02922.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0015 a0003c0004t0006 a0003c0004t0015	a0003c0004t0006g0061 a0003c0004t0015g0169 a0003c0004t0006g0061 a0003c0004t0015g0169	2	180	0.0111	31	c.44 others(48): Show c.44-3485_*44-3484insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/8			chr1	TogoVar
AHI1_chr6_135278532_135502740	135482894	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02145.hp1 HG02622.hp1 others(1): Show HG01074.hp2 HG02145.hp1 HG02622.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0215 a0001c0001t0005g0185 a0001c0001t0005g0186 others(1): Show a0001c0001t0003g0215 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0196	4	220	0.0182	31	c.135 others(48): Show c.135+7728_135+7729insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	5/28			chr6	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	268	0.0037	31	c.-10 others(48): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT ATT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02486.hp2 HG03225.hp1 HG01192.hp1 HG02486.hp2 HG03225.hp1	a0002 a0016 a0002 a0016	a0002c0002 a0016c0012 a0002c0002 a0016c0012	a0002c0002t0001 a0016c0012t0020 a0002c0002t0001 a0016c0012t0020	a0002c0002t0001g0191 a0002c0002t0001g0257 a0016c0012t0020g0239 a0002c0002t0001g0191 a0002c0002t0001g0257 a0016c0012t0020g0239	3	268	0.0112	31	c.-10 others(48): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATTT TTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18943.hp1 HG00639.hp1 NA18943.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0005c0005 a0003c0004 a0005c0005	a0003c0004t0012 a0005c0005t0015 a0003c0004t0012 a0005c0005t0015	a0003c0004t0012g0195 a0005c0005t0015g0182 a0003c0004t0012g0195 a0005c0005t0015g0182	2	268	0.0075	31	c.-10 others(48): Show c.-10-3204_-10-3203insATATATATATATATATATATATATTTTT TTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0215	1	268	0.0037	31	c.-10 others(48): Show c.-10-3204_-10-3203insATATATATATATATATATTTTTTTTTTT TTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AIG1_chr6_143055889_143346058	143143528	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	204	0.0049	31	c.297 others(48): Show c.297+6539_297+6540insAAAAATATATATATATATATATATATAT ATA	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
AJAP1_chr1_4649609_4797534	4666924	A A	AGAGGGGT others(24): Show AGAGGGGTGCGGAGAGGGGCCCATGAATCACG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0147 a0001c0002t0147	a0001c0002t0147g0020 a0001c0002t0147g0020	1	334	0.0030	31	c.29+ others(48): Show c.29+11478_29+11508dupGCGGAGAGGGGCCCATGAATCACGGAGG GGT	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367569	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0126 a0002c0002t0016g0126	1	284	0.0035	31	c.891 others(50): Show c.891+27011_891+27012insTATATATATATATATATATGTTATAT ATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK7_chr14_96387128_96494427	96418322	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00609.hp2 others(7): Show HG00558.hp1 HG00558.hp2 HG00609.hp2 HG01070.hp2 HG01952.hp2 HG02004.hp1 HG02572.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0035 a0001c0001t0001g0078 a0001c0001t0001g0089 others(7): Show a0001c0001t0001g0035 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0188 a0001c0001t0001g0224 a0001c0001t0001g0250 a0001c0001t0001g0269 a0001c0001t0002g0143 a0001c0001t0002g0273 a0001c0001t0006g0235	10	316	0.0317	31	c.499 others(48): Show c.499-2485_499-2484insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AK8_chr9_132720578_132883284	132812530	T T	TACCCACT others(24): Show TACCCACTGGGATGACAGGGGTGAGCCGCCGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp1 HG01175.hp2 others(18): Show HG00323.hp2 HG01074.hp1 HG01175.hp2 HG01192.hp1 HG01978.hp1 HG02027.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02273.hp1 HG02818.hp1 HG03209.hp1 HG03669.hp2 HG06807.hp1 NA18945.hp2 NA18964.hp1 NA18966.hp2 NA18971.hp2 NA19009.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0012 a0007c0013 a0001c0001 a0005c0012 a0007c0013	a0001c0001t0001 a0005c0012t0001 a0007c0013t0001 a0001c0001t0001 a0005c0012t0001 a0007c0013t0001	a0001c0001t0001g0058 a0001c0001t0001g0088 a0001c0001t0001g0099 others(18): Show a0001c0001t0001g0058 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0005c0012t0001g0107 a0007c0013t0001g0118	21	266	0.0790	31	c.979 others(48): Show c.979+2107_979+2108insGCGGCGGCTCACCCCTGTCATCCCAGTG GGT	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12			chr9	TogoVar
AK8_chr9_132720578_132883284	132812545	C C	CAGGGGTG others(24): Show CAGGGGTGAGCCGCCGCGCCCACTGGGATGAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18982.hp1 HG01433.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0098 a0001c0001t0001g0105	2	266	0.0075	31	c.979 others(48): Show c.979+2092_979+2093insATCATCCCAGTGGGCGCGGCGGCTCACC CCT	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12			chr9	TogoVar
AKAP10_chr17_19899302_19982828	19946222	T T	TTATATAT others(24): Show TTATATATATATATATATTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18957.hp1 NA18747.hp2 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0147 a0002c0002t0001g0127 a0002c0002t0001g0147	2	278	0.0072	31	c.976 others(48): Show c.976+1184_976+1185insTATATATATATATAATATATATATATAT ATA	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	5/14			chr17	TogoVar
AKAP13_chr15_85375603_85754355	85504503	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0215 a0002c0001t0011g0215	1	314	0.0032	31	c.34- others(48): Show c.34-16923_34-16893dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02886.hp1 HG01070.hp1 HG01071.hp1 HG02886.hp1	a0004 a0008 a0004 a0008	a0004c0006 a0008c0009 a0004c0006 a0008c0009	a0004c0006t0014 a0008c0009t0009 a0004c0006t0014 a0008c0009t0009	a0004c0006t0014g0227 a0008c0009t0009g0075 a0008c0009t0009g0197 a0004c0006t0014g0227 a0008c0009t0009g0075 a0008c0009t0009g0197	3	314	0.0096	31	c.416 others(52): Show c.4162-25661_4162-25660insATATATATATATATATATATATAT ATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
AKAP17A_chrX_1586604_1607520	1586633	C C	CCTCAGCC others(24): Show CCTCAGCCTCCCGGAGTAGCTGGGATTACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	151	0.0066	31	c.-51 others(42): Show c.-5156_-5155insCTCAGCCTCCCGGAGTAGCTGGGATTACAGG	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		4970		chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1588411	C C	CCTCCCCT others(24): Show CCTCCCCTCCCTTCCCCTCCCCCCTCCCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0022 a0002c0002t0002g0022	1	151	0.0066	31	c.-33 others(42): Show c.-3378_-3377insCTCCCCTCCCTTCCCCTCCCCCCTCCCCTTT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3192		chrX	TogoVar
AKAP6_chr14_32324298_32842684	32361071	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0008 a0002c0009t0001g0008	1	154	0.0065	31	c.-35 others(50): Show c.-35+31663_-35+31664insATATATATATATATATATATATATAT ATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13			chr14	TogoVar
AKAP6_chr14_32324298_32842684	32780155	A A	AAACATAT others(24): Show AAACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp2 HG01884.hp1 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0005 a0002c0002t0003 a0001c0004t0005 a0002c0002t0003	a0001c0004t0005g0121 a0002c0002t0003g0152 a0001c0004t0005g0121 a0002c0002t0003g0152	2	154	0.0130	31	c.358 others(50): Show c.3588+6263_3588+6264insACATATATATATATATATATATATAT ATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32841965	T T	TTCCCTCC others(24): Show TTCCCTCCCCTCCCCTCCCCTCCCTCCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp1 others(13): Show HG00099.hp1 HG00140.hp2 HG00639.hp1 HG01071.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01981.hp2 HG02165.hp1 HG02451.hp1 HG03490.hp1 HG04228.hp2 NA18995.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2	a0002 a0003 a0008 others(2): Show a0002 a0003 a0008 a0011 a0026	a0002c0002 a0002c0009 a0003c0003 others(7): Show a0002c0002 a0002c0009 a0003c0003 a0003c0005 a0003c0017 a0003c0032 a0003c0057 a0008c0014 a0011c0016 a0026c0029	a0002c0002t0001 a0002c0009t0009 a0003c0003t0002 others(8): Show a0002c0002t0001 a0002c0009t0009 a0003c0003t0002 a0003c0005t0002 a0003c0017t0002 a0003c0032t0052 a0003c0057t0026 a0008c0014t0002 a0008c0014t0027 a0011c0016t0002 a0026c0029t0029	a0002c0002t0001g0010 a0002c0009t0009g0092 a0003c0003t0002g0025 others(13): Show a0002c0002t0001g0010 a0002c0009t0009g0092 a0003c0003t0002g0025 a0003c0003t0002g0035 a0003c0003t0002g0078 a0003c0003t0002g0149 a0003c0005t0002g0027 a0003c0005t0002g0091 a0003c0017t0002g0073 a0003c0032t0052g0093 a0003c0057t0026g0003 a0008c0014t0002g0018 a0008c0014t0027g0054 a0011c0016t0002g0085 a0011c0016t0002g0088 a0026c0029t0029g0060	16	154	0.1039	31	c.12 others(44): Show c.12160_*12161insTCCCTCCCCTCCCCTCCCCTCCCTCCCCTCC	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding		4282		chr14	TogoVar
AKNA_chr9_114329156_114392982	114380981	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0045 a0003c0006t0045	a0003c0006t0045g0230 a0003c0006t0045g0230	1	388	0.0026	31	c.274 others(44): Show c.274+78_274+79insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	2/21			chr9	TogoVar
AKT3_chr1_243494724_243855243	243535185	A A	ATATTTAA others(24): Show ATATTTAAAATTTTAAAATAATTTTAAAATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03195.hp1 HG02258.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0055 a0001c0001t0003g0057	2	301	0.0066	31	c.125 others(52): Show c.1251+10324_1251+10325insATATTTTAAAATTATTTTAAAATT TTAAATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686651	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02071.hp1 HG00423.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0253 a0001c0001t0011g0235 a0001c0001t0001g0253 a0001c0001t0011g0235	2	301	0.0066	31	c.172 others(48): Show c.172+8939_172+8940insAAATATATATATATATATATATATATAT ATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
ALAD_chr9_113381312_113406284	113381760	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	446	0.0022	31	c.65 others(42): Show c.6539_*6540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		4551		chr9	TogoVar
ALCAM_chr3_105361909_105581900	105368264	A A	AGAGAGAG others(24): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0027 a0001c0002t0003g0027	1	378	0.0027	31	c.73+ others(44): Show c.73+783_73+784insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15			chr3	TogoVar
ALDH1L2_chr12_105014790_105089458	105036021	A A	ATATATAC others(24): Show ATATATACATATATTTATATATGTGTATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	386	0.0026	31	c.214 others(50): Show c.2146-1624_2146-1623insATATATACACATATATAAATATATGT ATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105036128	A A	ATATAGAC others(24): Show ATATAGACACGTATATTTATATATGTATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	386	0.0026	31	c.214 others(50): Show c.2146-1731_2146-1730insATATATACATATATAAATATACGTGT CTATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03017.hp1 HG00639.hp2 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0183 a0001c0002t0002g0184	2	386	0.0052	31	c.194 others(46): Show c.194-839_194-838insAAATATATATATATATATATATATATATAT A	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	386	0.0026	31	c.194 others(46): Show c.194-839_194-838insAAAAAAAAAAAAAAATATATATATATATAT A	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALG12_chr22_49895229_49923438	49901808	G G	GTGTGCAT others(24): Show GTGTGCATGTGCATTGTGTGGATGCATGGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02976.hp2 HG03041.hp1 others(1): Show HG02055.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0064 a0001c0002t0065 a0001c0002t0026 a0001c0002t0064 a0001c0002t0065	a0001c0002t0026g0041 a0001c0002t0064g0172 a0001c0002t0065g0173 a0001c0002t0026g0041 a0001c0002t0064g0172 a0001c0002t0065g0173	4	348	0.0115	31	c.20 others(42): Show c.2029_*2030insTTACCATGCATCCACACAATGCACATGCACA	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	10/10	2029		chr22	TogoVar
ALG12_chr22_49895229_49923438	49922765	A A	ATGGGGGC others(24): Show ATGGGGGCGTAAGGCGTGGGGGGTGTGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0094 a0001c0004t0009g0094	1	348	0.0029	31	c.-45 others(42): Show c.-4582_-4581insCGCCTCACACCCCCCACGCCTTACGCCCCCA	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding		4328		chr22	TogoVar
ALG14_chr1_94969405_95077951	95045907	G G	GGTATACT others(24): Show GGTATACTAATAATTAGTATACTAATAGAATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp2 HG02895.hp2 others(2): Show HG02109.hp2 HG02886.hp2 HG02895.hp2 HG03195.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0059 a0001c0001t0068 others(1): Show a0001c0001t0030 a0001c0001t0059 a0001c0001t0068 a0001c0001t0147	a0001c0001t0030g0273 a0001c0001t0030g0274 a0001c0001t0059g0272 others(2): Show a0001c0001t0030g0273 a0001c0001t0030g0274 a0001c0001t0059g0272 a0001c0001t0068g0003 a0001c0001t0147g0271	5	388	0.0129	31	c.289 others(50): Show c.289-18678_289-18648dupTATTCTATTAGTATACTAATTATTAG TATAC	ALG14	ENSG00000172339.10	transcript	ENST00000370205.6	protein_coding	2/3			chr1	TogoVar
ALLC_chr2_3653200_3707671	3704483	G G	GGAAGGGG others(24): Show GGAAGGGGGTGTCGGAGAGGGGCGTGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0097 a0001c0001t0005g0097	1	274	0.0037	31	c.19 others(42): Show c.1920_*1921insGAAGGGGGTGTCGGAGAGGGGCGTGGGGGGA	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding		1813		chr2	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	1	470	0.0021	31	c.71 others(40): Show c.718_*719insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		150		chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107961	G G	GAAAGAAA others(24): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	422	0.0024	31	c.168 others(48): Show c.1684+506_1684+507insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
AMBRA1_chr11_46391414_46599023	46527477	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	160	0.0063	31	c.207 others(52): Show c.2072+14467_2072+14468insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	160	0.0063	31	c.-12 others(50): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT TTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	160	0.0063	31	c.-12 others(50): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT ATTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18906.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0100 a0001c0002t0002g0101 a0001c0001t0001g0100 a0001c0002t0002g0101	2	160	0.0125	31	c.-12 others(50): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT ATATA	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMDHD2_chr16_2515371_2536417	2533430	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	318	0.0031	31	c.38 others(42): Show c.3867_*3868insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		2014		chr16	TogoVar

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