Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
GABRA1_chr5_161843120_161904971	161850081	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	394	0.0025	22	c.-15 others(37): Show c.-15-710_-15-689dupTGTGTGTGTGTGTGTGTGTGTG	GABRA1	ENSG00000022355.18	transcript	ENST00000393943.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GABRA2_chr4_46238548_46395128	46249034	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00738.hp1 others(13): Show HG00408.hp1 HG00544.hp1 HG00738.hp1 HG01243.hp1 HG02451.hp1 HG02486.hp2 HG03098.hp1 HG03130.hp1 NA18953.hp1 NA18971.hp1 NA18982.hp2 NA18992.hp2 NA19064.hp1 NA19070.hp1 NA19085.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 others(9): Show a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0001t0033 a0001c0001t0074 a0001c0001t0117 a0001c0001t0118 a0001c0001t0121 a0001c0001t0150 a0001c0001t0151 a0001c0001t0174 a0002c0003t0050	a0001c0001t0022g0085 a0001c0001t0022g0088 a0001c0001t0024g0112 others(13): Show a0001c0001t0022g0085 a0001c0001t0022g0088 a0001c0001t0024g0112 a0001c0001t0024g0116 a0001c0001t0029g0142 a0001c0001t0029g0143 a0001c0001t0033g0176 a0001c0001t0033g0178 a0001c0001t0074g0047 a0001c0001t0117g0130 a0001c0001t0118g0128 a0001c0001t0121g0137 a0001c0001t0150g0171 a0001c0001t0151g0170 a0001c0001t0174g0226 a0002c0003t0050g0018	16	258	0.0620	22	c.12 others(33): Show c.1252_*1273dupCACACACACACACACACACACA	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	10/10	1273		chr4	TogoVar
GABRA2_chr4_46238548_46395128	46264986	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01109.hp1 HG01515.hp1 others(18): Show HG00733.hp1 HG01109.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG02273.hp2 HG02451.hp1 HG02572.hp1 HG02630.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03704.hp1 HG03831.hp1 NA18948.hp2 NA18952.hp1 NA18971.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 others(17): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 a0001c0001t0024 a0001c0001t0034 a0001c0001t0037 a0001c0001t0049 a0001c0001t0083 a0001c0001t0091 a0001c0001t0106 a0001c0001t0116 a0001c0001t0117 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0157 a0001c0001t0158 a0001c0001t0175 a0001c0001t0176 a0001c0002t0011	a0001c0001t0007g0086 a0001c0001t0008g0082 a0001c0001t0018g0054 others(18): Show a0001c0001t0007g0086 a0001c0001t0008g0082 a0001c0001t0018g0054 a0001c0001t0018g0055 a0001c0001t0024g0112 a0001c0001t0034g0181 a0001c0001t0037g0200 a0001c0001t0049g0011 a0001c0001t0083g0059 a0001c0001t0091g0075 a0001c0001t0106g0111 a0001c0001t0116g0117 a0001c0001t0117g0130 a0001c0001t0150g0171 a0001c0001t0151g0170 a0001c0001t0152g0172 a0001c0001t0157g0183 a0001c0001t0158g0182 a0001c0001t0175g0222 a0001c0001t0176g0220 a0001c0002t0011g0186	21	258	0.0814	22	c.857 others(39): Show c.857-2859_857-2858insATATATATATATATATATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46297476	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp1 HG01884.hp1 others(4): Show HG01109.hp1 HG01261.hp1 HG01884.hp1 HG02257.hp2 HG02280.hp2 HG03195.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0020 a0001c0001t0025 others(4): Show a0001c0001t0010 a0001c0001t0020 a0001c0001t0025 a0001c0001t0049 a0001c0001t0083 a0001c0001t0138 a0001c0001t0139	a0001c0001t0010g0108 a0001c0001t0020g0064 a0001c0001t0025g0121 others(4): Show a0001c0001t0010g0108 a0001c0001t0020g0064 a0001c0001t0025g0121 a0001c0001t0049g0011 a0001c0001t0083g0059 a0001c0001t0138g0155 a0001c0001t0139g0156	7	258	0.0271	22	c.856 others(39): Show c.856+5962_856+5983dupATATATATATATATATATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA4_chr4_46913900_46998581	46991721	A A	ACTCGTTA others(15): Show ACTCGTTACTTATCTTTCTAAGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(219): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18992.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19072.hp2 NA19078.hp2 NA19079.hp1 NA19082.hp2 NA19083.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0005 a0001c0008 others(4): Show a0001c0001 a0001c0005 a0001c0008 a0001c0009 a0001c0011 a0002c0002 a0006c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(79): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0043 a0001c0001t0045 a0001c0001t0049 a0001c0001t0056 a0001c0001t0057 a0001c0001t0061 a0001c0001t0063 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0084 a0001c0001t0086 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0005t0030 a0001c0008t0013 a0001c0009t0008 a0001c0011t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0012 a0002c0002t0014 a0002c0002t0017 a0002c0002t0018 a0002c0002t0019 a0002c0002t0022 a0002c0002t0024 a0002c0002t0028 a0002c0002t0029 a0002c0002t0031 a0002c0002t0033 a0002c0002t0037 a0002c0002t0058 a0002c0002t0059 a0002c0002t0062 a0002c0002t0064 a0002c0002t0065 a0002c0002t0066 a0002c0002t0068 a0002c0002t0081 a0002c0002t0083 a0002c0002t0087 a0002c0002t0088 a0006c0004t0004	a0001c0001t0001g0145 a0001c0001t0001g0278 a0001c0001t0001g0290 others(202): Show a0001c0001t0001g0145 a0001c0001t0001g0278 a0001c0001t0001g0290 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0314 a0001c0001t0002g0329 a0001c0001t0003g0134 a0001c0001t0003g0139 a0001c0001t0003g0161 a0001c0001t0003g0289 a0001c0001t0003g0292 a0001c0001t0003g0303 a0001c0001t0005g0013 a0001c0001t0005g0024 a0001c0001t0005g0155 a0001c0001t0005g0324 a0001c0001t0006g0148 a0001c0001t0007g0131 a0001c0001t0007g0143 a0001c0001t0007g0144 a0001c0001t0007g0152 a0001c0001t0007g0156 a0001c0001t0007g0159 a0001c0001t0007g0162 a0001c0001t0008g0005 a0001c0001t0008g0023 a0001c0001t0008g0158 a0001c0001t0008g0165 a0001c0001t0008g0166 a0001c0001t0008g0297 a0001c0001t0008g0302 a0001c0001t0008g0310 a0001c0001t0008g0313 a0001c0001t0009g0130 a0001c0001t0009g0149 a0001c0001t0011g0132 a0001c0001t0011g0133 a0001c0001t0011g0140 a0001c0001t0011g0157 a0001c0001t0011g0160 a0001c0001t0011g0163 a0001c0001t0011g0312 a0001c0001t0012g0022 a0001c0001t0012g0141 a0001c0001t0012g0293 a0001c0001t0012g0295 a0001c0001t0012g0301 a0001c0001t0012g0309 a0001c0001t0013g0154 a0001c0001t0013g0307 a0001c0001t0013g0315 a0001c0001t0013g0316 a0001c0001t0013g0317 a0001c0001t0013g0318 a0001c0001t0013g0319 a0001c0001t0016g0306 a0001c0001t0019g0150 a0001c0001t0021g0147 a0001c0001t0022g0325 a0001c0001t0023g0136 a0001c0001t0023g0137 a0001c0001t0027g0151 a0001c0001t0032g0014 a0001c0001t0033g0326 a0001c0001t0034g0328 a0001c0001t0034g0330 a0001c0001t0036g0135 a0001c0001t0043g0320 a0001c0001t0045g0291 a0001c0001t0049g0327 a0001c0001t0056g0298 a0001c0001t0057g0311 a0001c0001t0061g0336 a0001c0001t0063g0335 a0001c0001t0069g0279 a0001c0001t0070g0281 a0001c0001t0071g0167 a0001c0001t0074g0287 a0001c0001t0076g0286 a0001c0001t0077g0164 a0001c0001t0078g0285 a0001c0001t0079g0323 a0001c0001t0080g0321 a0001c0001t0084g0146 a0001c0001t0086g0334 a0001c0001t0089g0153 a0001c0001t0090g0280 a0001c0001t0091g0322 a0001c0001t0092g0331 a0001c0001t0093g0333 a0001c0001t0094g0138 a0001c0005t0030g0332 a0001c0008t0013g0294 a0001c0009t0008g0142 a0001c0011t0002g0277 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0109 a0002c0002t0002g0001 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0051 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0084 a0002c0002t0002g0094 a0002c0002t0002g0097 a0002c0002t0002g0111 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0003g0068 a0002c0002t0004g0031 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0088 a0002c0002t0004g0090 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0004g0099 a0002c0002t0004g0100 a0002c0002t0004g0102 a0002c0002t0004g0103 a0002c0002t0004g0104 a0002c0002t0004g0105 a0002c0002t0004g0106 a0002c0002t0004g0112 a0002c0002t0004g0123 a0002c0002t0004g0127 a0002c0002t0005g0126 a0002c0002t0006g0086 a0002c0002t0006g0092 a0002c0002t0006g0098 a0002c0002t0008g0042 a0002c0002t0009g0056 a0002c0002t0009g0063 a0002c0002t0009g0065 a0002c0002t0009g0067 a0002c0002t0009g0081 a0002c0002t0009g0082 a0002c0002t0009g0089 a0002c0002t0009g0117 a0002c0002t0009g0118 a0002c0002t0009g0125 a0002c0002t0011g0030 a0002c0002t0012g0041 a0002c0002t0012g0091 a0002c0002t0014g0038 a0002c0002t0014g0040 a0002c0002t0014g0046 a0002c0002t0014g0047 a0002c0002t0014g0113 a0002c0002t0014g0114 a0002c0002t0014g0115 a0002c0002t0014g0120 a0002c0002t0017g0012 a0002c0002t0017g0083 a0002c0002t0017g0101 a0002c0002t0018g0036 a0002c0002t0018g0037 a0002c0002t0018g0039 a0002c0002t0018g0050 a0002c0002t0019g0010 a0002c0002t0022g0035 a0002c0002t0022g0049 a0002c0002t0024g0078 a0002c0002t0028g0060 a0002c0002t0028g0116 a0002c0002t0029g0071 a0002c0002t0029g0072 a0002c0002t0031g0011 a0002c0002t0033g0107 a0002c0002t0037g0043 a0002c0002t0058g0052 a0002c0002t0059g0061 a0002c0002t0062g0085 a0002c0002t0064g0093 a0002c0002t0065g0045 a0002c0002t0066g0108 a0002c0002t0068g0110 a0002c0002t0081g0066 a0002c0002t0083g0087 a0002c0002t0087g0044 a0002c0002t0088g0048 a0006c0004t0004g0034	222	370	0.6000	22	c.205 others(39): Show c.205+1106_205+1107insGCTTAGAAAGATAAGTAACGAG	GABRA4	ENSG00000109158.11	transcript	ENST00000264318.4	protein_coding	2/8			chr4	TogoVar
GABRB1_chr4_47026567_47431447	47155916	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA20805.hp2 HG04204.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0088 a0001c0001t0009g0046 a0001c0001t0001g0088 a0001c0001t0009g0046	2	158	0.0127	22	c.241 others(39): Show c.241-5324_241-5303dupATATATATATATATATATATAT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB2_chr5_161283436_161551725	161341937	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	266	0.0038	22	c.542 others(39): Show c.542-5190_542-5169dupTATATATATATATATATATATA	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	5/9			chr5	TogoVar
GABRB2_chr5_161283436_161551725	161359440	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01496.hp2 HG02486.hp2 HG01069.hp2 HG01496.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0012 a0001c0002t0011 a0001c0002t0012	a0001c0002t0011g0247 a0001c0002t0012g0078 a0001c0002t0012g0246 a0001c0002t0011g0247 a0001c0002t0012g0078 a0001c0002t0012g0246	3	266	0.0113	22	c.542 others(41): Show c.542-22693_542-22672dupGTGTGTGTGTGTGTGTGTGTGT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	5/9			chr5	TogoVar
GABRB2_chr5_161283436_161551725	161416696	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00738.hp1 others(25): Show HG00140.hp2 HG00423.hp1 HG00738.hp1 HG01168.hp1 HG01261.hp1 HG01975.hp1 HG02004.hp1 HG02071.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG03130.hp1 HG03195.hp1 HG03471.hp1 HG03704.hp2 HG04199.hp1 HG04199.hp2 NA18942.hp1 NA18952.hp2 NA18953.hp2 NA18970.hp1 NA18993.hp1 NA18998.hp2 NA19054.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0040 a0001c0002t0011 a0001c0002t0014 a0001c0002t0018 a0002c0004t0001	a0001c0001t0001g0037 a0001c0001t0001g0106 a0001c0001t0001g0118 others(25): Show a0001c0001t0001g0037 a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0005g0039 a0001c0001t0005g0041 a0001c0001t0005g0058 a0001c0001t0007g0212 a0001c0001t0040g0166 a0001c0002t0011g0089 a0001c0002t0011g0109 a0001c0002t0011g0110 a0001c0002t0014g0218 a0001c0002t0014g0219 a0001c0002t0018g0233 a0002c0004t0001g0087 a0002c0004t0001g0105	28	266	0.1053	22	c.459 others(39): Show c.459-5661_459-5640dupTTTTTTTTTTTTTTTTTTTTTT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	4/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26554017	C C	CTATGTAT others(15): Show CTATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	204	0.0049	22	c.108 others(41): Show c.1081-5884_1081-5883insTATATATATATATATATACATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554021	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0072 a0001c0001t0008g0072	1	204	0.0049	22	c.108 others(41): Show c.1081-5888_1081-5887insTATATATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554021	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 NA19030.hp2 HG01243.hp1 HG01884.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0096 a0001c0001t0005g0127 a0001c0001t0005g0151 a0001c0001t0005g0096 a0001c0001t0005g0127 a0001c0001t0005g0151	3	204	0.0147	22	c.108 others(41): Show c.1081-5888_1081-5887insTATATATATATATATATATAAA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554039	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	204	0.0049	22	c.108 others(41): Show c.1081-5906_1081-5905insAATATATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554176	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG01993.hp1 others(7): Show HG00438.hp1 HG00621.hp1 HG01993.hp1 HG03704.hp2 NA18612.hp1 NA18612.hp2 NA18962.hp2 NA18987.hp2 NA19072.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0001 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0001g0080 others(7): Show a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0009g0031 a0001c0001t0009g0050 a0001c0001t0009g0186 a0001c0001t0012g0092	10	204	0.0490	22	c.108 others(41): Show c.1081-6043_1081-6042insTATATATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554207	A A	ATATATAT others(15): Show ATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02559.hp2 HG03927.hp1 others(1): Show HG01975.hp1 HG02559.hp2 HG03927.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0029 a0001c0001t0002 a0001c0001t0003 a0001c0001t0029	a0001c0001t0002g0032 a0001c0001t0002g0140 a0001c0001t0003g0143 others(1): Show a0001c0001t0002g0032 a0001c0001t0002g0140 a0001c0001t0003g0143 a0001c0001t0029g0062	4	204	0.0196	22	c.108 others(41): Show c.1081-6074_1081-6073insAATAAATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554207	A A	ATATATAT others(15): Show ATATATATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19010.hp2 NA18964.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0029 a0001c0001t0002g0030	2	204	0.0098	22	c.108 others(41): Show c.1081-6074_1081-6073insAATAAATAAATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26586397	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02965.hp1 HG03209.hp2 HG00140.hp1 HG02965.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0008 a0001c0001t0014 a0001c0005t0016 a0001c0001t0008 a0001c0001t0014 a0001c0005t0016	a0001c0001t0008g0190 a0001c0001t0014g0196 a0001c0005t0016g0193 a0001c0001t0008g0190 a0001c0001t0014g0196 a0001c0005t0016g0193	3	204	0.0147	22	c.462 others(39): Show c.462-3005_462-2984dupGTGTGTGTGTGTGTGTGTGTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26619917	C C	CACACACC others(15): Show CACACACCACACACACACAAAGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01071.hp1 HG01257.hp1 others(30): Show HG00280.hp1 HG01071.hp1 HG01257.hp1 HG01515.hp1 HG01516.hp2 HG01975.hp1 HG02280.hp1 HG02559.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03492.hp2 HG03579.hp1 HG03704.hp1 NA18962.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18978.hp2 NA18983.hp2 NA19030.hp1 NA19056.hp1 NA19082.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0003t0020 a0001c0005t0016	a0001c0001t0001g0015 a0001c0001t0001g0085 a0001c0001t0001g0164 others(30): Show a0001c0001t0001g0015 a0001c0001t0001g0085 a0001c0001t0001g0164 a0001c0001t0001g0183 a0001c0001t0002g0007 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0002g0044 a0001c0001t0002g0055 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0136 a0001c0001t0002g0153 a0001c0001t0002g0170 a0001c0001t0002g0181 a0001c0001t0003g0106 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0157 a0001c0001t0003g0167 a0001c0001t0011g0079 a0001c0001t0016g0192 a0001c0001t0017g0082 a0001c0001t0026g0071 a0001c0001t0027g0027 a0001c0001t0030g0138 a0001c0001t0031g0042 a0001c0001t0032g0022 a0001c0001t0033g0201 a0001c0003t0020g0003 a0001c0005t0016g0193	33	204	0.1618	22	c.461 others(39): Show c.461+1396_461+1397insACTTTGTGTGTGTGTGGTGTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26649658	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	204	0.0049	22	c.241 others(41): Show c.241-28146_241-28125dupCACACACACACACACACACACA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26680490	C C	CTTGGTGT others(15): Show CTTGGTGTAACAGTCAAGTTCTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(65): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00733.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01975.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp2 HG02895.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03688.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18967.hp2 NA18971.hp1 NA18980.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA19043.hp2 NA19072.hp1 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0026 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0003t0020 a0001c0004t0002 a0001c0005t0016 a0001c0006t0025	a0001c0001t0001g0080 a0001c0001t0001g0100 a0001c0001t0001g0112 others(65): Show a0001c0001t0001g0080 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0044 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0002g0129 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0003g0012 a0001c0001t0003g0103 a0001c0001t0003g0115 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0139 a0001c0001t0003g0144 a0001c0001t0003g0167 a0001c0001t0004g0053 a0001c0001t0004g0060 a0001c0001t0004g0114 a0001c0001t0004g0163 a0001c0001t0004g0182 a0001c0001t0005g0009 a0001c0001t0005g0026 a0001c0001t0005g0096 a0001c0001t0005g0099 a0001c0001t0005g0151 a0001c0001t0006g0063 a0001c0001t0006g0128 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0008g0072 a0001c0001t0009g0186 a0001c0001t0011g0079 a0001c0001t0012g0093 a0001c0001t0013g0171 a0001c0001t0014g0196 a0001c0001t0014g0198 a0001c0001t0014g0199 a0001c0001t0017g0086 a0001c0001t0018g0147 a0001c0001t0024g0116 a0001c0001t0026g0071 a0001c0001t0031g0042 a0001c0001t0033g0201 a0001c0001t0034g0203 a0001c0003t0020g0003 a0001c0004t0002g0011 a0001c0004t0002g0169 a0001c0005t0016g0193 a0001c0006t0025g0108	68	204	0.3333	22	c.241 others(41): Show c.241-58978_241-58957dupTAGAACTTGACTGTTACACCAA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRD_chr1_2014345_2035758	2028348	C C	CCGCCGCC others(15): Show CCGCCGCCCCTTCCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0141 a0001c0002t0006g0141	1	364	0.0028	22	c.691 others(35): Show c.691+57_691+58insGCCGCCCCTTCCGCGCGCGCGC	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
GABRG1_chr4_46030769_46129054	46118132	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG03139.hp1 HG02145.hp1 HG02622.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0052 a0001c0002t0007g0053 a0001c0002t0007g0054 a0001c0002t0007g0052 a0001c0002t0007g0053 a0001c0002t0007g0054	3	308	0.0097	22	c.104 others(39): Show c.104+5677_104+5678insTATATATATATATATATACACA	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8			chr4	TogoVar
GABRG3_chr15_26966181_27546984	27062434	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG01261.hp1 others(1): Show HG00408.hp1 HG00408.hp2 HG01261.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0003t0012	a0001c0001t0001g0042 a0001c0001t0012g0025 a0001c0002t0001g0046 others(1): Show a0001c0001t0001g0042 a0001c0001t0012g0025 a0001c0002t0001g0046 a0001c0003t0012g0023	4	92	0.0435	22	c.270 others(41): Show c.270+35616_270+35637dupAAAAAAAAAAAAAAAAAAAAAA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27174584	G G	GTCTCTCT others(15): Show GTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0037 a0001c0005t0005g0037	1	92	0.0109	22	c.270 others(43): Show c.270+147776_270+147797dupTCTCTCTCTCTCTCTCTCTCTC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27313262	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	92	0.0109	22	c.271 others(41): Show c.271-13546_271-13545insGTATATATATATATATATATAT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27348155	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0018 a0001c0003t0037g0018	1	92	0.0109	22	c.574 others(41): Show c.574+19270_574+19271insAAAAAAAAAAAAAAAAAAAAAA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR2_chr6_89249464_89320299	89280247	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	366	0.0027	22	c.221 others(39): Show c.221-8526_221-8525insGTATATATATATATATATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GAD1_chr2_170811887_170866151	170828555	A A	ACCTCTGC others(15): Show ACCTCTGCTGTCCTCACCGTCCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	412	0.0024	22	c.146 others(37): Show c.146-902_146-881dupGTCCTCCTCTGCTGTCCTCACC	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAD2_chr10_26211774_26309558	26295508	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG01070.hp2 others(6): Show HG00438.hp1 HG00642.hp1 HG01070.hp2 HG01071.hp1 HG01255.hp1 HG02280.hp1 HG02559.hp1 NA19066.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0001 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0042 others(6): Show a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0005g0108 a0001c0001t0005g0278 a0001c0001t0011g0109	9	294	0.0306	22	c.158 others(41): Show c.1584+2536_1584+2557dupCACACACACACACACACACACA	GAD2	ENSG00000136750.13	transcript	ENST00000376261.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GADD45A_chr1_67680201_67693334	67682506	A A	AATATATA others(15): Show AATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	404	0.0025	22	c.-29 others(33): Show c.-2989_-2988insATATATATATATATATATATAT	GADD45A	ENSG00000116717.13	transcript	ENST00000370986.9	protein_coding		2694		chr1	TogoVar
GADL1_chr3_30721197_30899661	30805734	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02148.hp2 HG02886.hp1 others(4): Show HG01981.hp2 HG02148.hp2 HG02886.hp1 HG03704.hp2 NA18979.hp1 NA19077.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0033 a0001c0001t0001 a0001c0001t0003 a0001c0001t0033	a0001c0001t0001g0061 a0001c0001t0001g0091 a0001c0001t0001g0095 others(4): Show a0001c0001t0001g0061 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0182 a0001c0001t0003g0088 a0001c0001t0033g0065	7	282	0.0248	22	c.105 others(41): Show c.1051-4668_1051-4647dupAAAAAAAAAAAAAAAAAAAAAA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	11/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30867423	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	282	0.0036	22	c.38- others(37): Show c.38-5659_38-5658insATATATATATATATATATATAT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	1/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30867439	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01071.hp2 HG01243.hp1 others(10): Show HG00642.hp1 HG01071.hp2 HG01243.hp1 HG02080.hp1 HG02300.hp2 HG02602.hp2 HG03239.hp2 NA18982.hp2 NA18993.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19084.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0011 a0001c0001 a0011c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0011c0011t0003	a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0090 others(10): Show a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0181 a0001c0001t0001g0263 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0002g0084 a0001c0001t0002g0252 a0001c0001t0002g0277 a0001c0001t0003g0085 a0001c0001t0009g0274 a0011c0011t0003g0269	13	282	0.0461	22	c.38- others(37): Show c.38-5675_38-5674insGTATATATATATATATATATAT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	1/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30895247	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18993.hp1 NA19077.hp2 others(1): Show NA18984.hp1 NA18993.hp1 NA19077.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0061 a0001c0001t0003g0019 a0001c0001t0003g0060 others(1): Show a0001c0001t0001g0061 a0001c0001t0003g0019 a0001c0001t0003g0060 a0001c0001t0003g0063	4	282	0.0142	22	c.-63 others(31): Show c.-634_-633insCACACACACACACACACACACA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding		587		chr3	TogoVar
GAL3ST1_chr22_30549635_30579665	30574711	A A	ACCCCTCC others(15): Show ACCCCTCCCCGCCCCGGGCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	452	0.0022	22	c.-36 others(31): Show c.-366_-365insGCCGGCCCGGGGCGGGGAGGGG	GAL3ST1	ENSG00000128242.13	transcript	ENST00000406361.6	protein_coding		47		chr22	TogoVar
GAL3ST1_chr22_30549635_30579665	30574728	G G	GCCGGCCC others(15): Show GCCGGCCCCCTCCCCGCCCCATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(158): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19063.hp1 NA19066.hp2 NA19072.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0011 a0012	a0001c0001 a0001c0004 a0001c0014 others(9): Show a0001c0001 a0001c0004 a0001c0014 a0002c0002 a0002c0005 a0002c0006 a0003c0003 a0005c0009 a0006c0008 a0007c0015 a0011c0018 a0012c0011	a0001c0001t0001 a0001c0004t0001 a0001c0014t0001 others(9): Show a0001c0001t0001 a0001c0004t0001 a0001c0014t0001 a0002c0002t0001 a0002c0005t0001 a0002c0006t0001 a0003c0003t0001 a0005c0009t0001 a0006c0008t0001 a0007c0015t0001 a0011c0018t0001 a0012c0011t0007	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(115): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0250 a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0004t0001g0132 a0001c0004t0001g0170 a0001c0004t0001g0309 a0001c0014t0001g0310 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0065 a0002c0002t0001g0070 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0088 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0096 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0113 a0002c0002t0001g0138 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0165 a0002c0002t0001g0168 a0002c0005t0001g0027 a0002c0006t0001g0087 a0003c0003t0001g0036 a0003c0003t0001g0129 a0003c0003t0001g0142 a0005c0009t0001g0123 a0006c0008t0001g0143 a0007c0015t0001g0076 a0011c0018t0001g0134 a0012c0011t0007g0316	161	452	0.3562	22	c.-38 others(31): Show c.-383_-382insGATGGGGCGGGGAGGGGGCCGG	GAL3ST1	ENSG00000128242.13	transcript	ENST00000406361.6	protein_coding		64		chr22	TogoVar
GAL3ST2_chr2_241771822_241809287	241786137	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0239 a0003c0003t0001g0239	1	314	0.0032	22	c.29+ others(37): Show c.29+9154_29+9155insGTGTGTGTGTGTGTGTGTGTGT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALC_chr14_87928014_87998182	87936896	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01123.hp2 HG03139.hp2 others(5): Show HG00621.hp2 HG01123.hp2 HG03139.hp2 HG04115.hp1 NA18954.hp2 NA18960.hp2 NA19060.hp2 NA19086.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0007 a0001c0001 a0002c0002 a0005c0007	a0001c0001t0001 a0002c0002t0002 a0005c0007t0002 a0001c0001t0001 a0002c0002t0002 a0005c0007t0002	a0001c0001t0001g0063 a0001c0001t0001g0088 a0001c0001t0001g0095 others(5): Show a0001c0001t0001g0063 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0316 a0002c0002t0002g0149 a0002c0002t0002g0177 a0002c0002t0002g0203 a0005c0007t0002g0295	8	370	0.0216	22	c.191 others(41): Show c.1912-2019_1912-2018insTATATATATATATATATATATA	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	16/16			chr14	TogoVar
GALK1_chr17_75752894_75770192	75768239	A A	AAAAAAAA others(15): Show AAAAAAAAACAAGTGATGTATCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	452	0.0022	22	c.-31 others(33): Show c.-3104_-3103insAGATACATCACTTGTTTTTTTT	GALK1	ENSG00000108479.13	transcript	ENST00000588479.6	protein_coding		3048		chr17	TogoVar
GALK2_chr15_49165247_49336882	49178195	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0162 a0001c0002t0003g0162	1	348	0.0029	22	c.53+ others(37): Show c.53+7831_53+7852dupTATATATATATATATATATATA	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0189 a0001c0002t0004g0189	1	348	0.0029	22	c.267 others(39): Show c.267-7163_267-7162insATATATATATATATATTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA20905.hp2 HG03491.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0174 a0001c0002t0004g0195 a0001c0002t0004g0174 a0001c0002t0004g0195	2	348	0.0058	22	c.267 others(39): Show c.267-7163_267-7162insATATATATATATATTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0194 a0001c0002t0004g0194	1	348	0.0029	22	c.267 others(39): Show c.267-7163_267-7162insATATATATATATTTTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0192 a0001c0002t0004g0192	1	348	0.0029	22	c.267 others(39): Show c.267-7163_267-7162insATATATATATTTTTTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38703054	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03834.hp1 HG02738.hp1 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0096 a0002c0002t0001g0283 a0001c0001t0001g0096 a0002c0002t0001g0283	2	328	0.0061	22	c.634 others(41): Show c.634+13178_634+13199dupATATATATATATATATATATAT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38703092	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0262 a0002c0002t0001g0262	1	328	0.0031	22	c.634 others(41): Show c.634+13199_634+13200insATATATATATATATATATTTTT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38703092	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0269 a0002c0002t0001g0269	1	328	0.0031	22	c.634 others(41): Show c.634+13199_634+13200insATATATATATATATTTTTTTTT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT11_chr7_152020674_152127340	152047687	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	284	0.0035	22	c.-39 others(41): Show c.-39+21805_-39+21826dupTGTGTGTGTGTGTGTGTGTGTG	GALNT11	ENSG00000178234.13	transcript	ENST00000430044.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT12_chr9_98802670_98855081	98854816	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	376	0.0027	22	c.57 others(33): Show c.5724_*5725insTATATATATATATATATATATA	GALNT12	ENSG00000119514.7	transcript	ENST00000375011.4	protein_coding		4736		chr9	TogoVar
GALNT13_chr2_153866922_154458979	153884766	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19083.hp1 NA18747.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0034 a0001c0001t0009 a0001c0001t0034	a0001c0001t0009g0102 a0001c0001t0034g0118 a0001c0001t0009g0102 a0001c0001t0034g0118	2	214	0.0094	22	c.-17 others(43): Show c.-177+12483_-177+12484insATATATATATATATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

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