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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ABCC2_chr10_99777640_99857594	99778449	C C	CAGAGAGA others(25): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG01123.hp2 others(46): Show HG00438.hp2 HG00673.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01261.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG03130.hp2 HG03239.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp2 NA18940.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18984.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19065.hp1 NA19079.hp2 NA19080.hp1	a0001 a0002 a0020 others(1): Show a0001 a0002 a0020 a0026	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0027 a0002c0003 a0020c0024 a0026c0025	a0001c0001t0001 a0001c0002t0003 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0002t0003 a0001c0005t0001 a0001c0027t0001 a0002c0003t0001 a0020c0024t0001 a0026c0025t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(44): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0002t0003g0207 a0001c0002t0003g0222 a0001c0002t0003g0274 a0001c0005t0001g0003 a0001c0005t0001g0155 a0001c0005t0001g0156 a0001c0005t0001g0160 a0001c0005t0001g0172 a0001c0027t0001g0147 a0002c0003t0001g0209 a0020c0024t0001g0015 a0026c0025t0001g0158	49	170	0.2882	32	c.-43 others(43): Show c.-4396_-4395insAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAG		ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding					4190		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99795801	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGATAGAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	3	0.3333	32	c.633 others(49): Show c.633-1293_633-1292insAAGAAAGAAAGAAAGAAAGAAAGATAGA GAGA		ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	6/31					INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC3_chr17_50629881_50697253	50673978	T T	TTCTTTCT others(25): Show TTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18968.hp2 HG01261.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0169 a0001c0001t0001g0013 a0001c0001t0001g0169	2	274	0.0073	32	c.259 others(49): Show c.2599+323_2599+324insTTCTTTCTCTTTCTTTCTTTCTTTCTTT CTCT		ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30					INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673978	T T	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	273	0.0037	32	c.259 others(49): Show c.2599+323_2599+324insTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCT		ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30					INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674030	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	145	0.0069	32	c.259 others(49): Show c.2599+375_2599+376insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT		ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30					INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674034	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18991.hp2 HG01167.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0329 a0001c0001t0001g0276 a0001c0001t0001g0329	2	103	0.0194	32	c.259 others(49): Show c.2599+386_2599+417dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT		ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30					INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95244596	T T	TGAAAGAA others(25): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18951.hp1 NA18951.hp2 NA18747.hp1 NA18951.hp1 NA18951.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0005 a0001c0001 a0002c0004 a0002c0005	a0001c0001t0001 a0002c0004t0001 a0002c0005t0002 a0001c0001t0001 a0002c0004t0001 a0002c0005t0002	a0001c0001t0001g0215 a0002c0004t0001g0079 a0002c0005t0002g0202 a0001c0001t0001g0215 a0002c0004t0001g0079 a0002c0005t0002g0202	3	187	0.0160	32	c.306 others(49): Show c.306+2347_306+2378dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC		ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30						chr13	TogoVar
ABCC4_chr13_95014835_95306451	95247918	G G	GCACACAC others(25): Show GCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03139.hp2 HG02630.hp1 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0072 a0001c0003 a0002c0072	a0001c0003t0003 a0002c0072t0002 a0001c0003t0003 a0002c0072t0002	a0001c0003t0003g0138 a0002c0072t0002g0037 a0001c0003t0003g0138 a0002c0072t0002g0037	2	45	0.0444	32	c.75- others(45): Show c.75-166_75-165insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG		ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30						chr13	TogoVar
ABCC5_chr3_183914934_184022884	183950088	G G	GATGAACA others(25): Show GATGAACATCTCGGCCTGGAACGGCAGCCGCAC	frameshift_variant frameshift_variant	HIGH	HG03654.hp1 HG03654.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0002 a0006c0019t0002	a0006c0019t0002g0323 a0006c0019t0002g0323	1	376	0.0027	32	c.295 others(41): Show c.2950_2981dupGTGCGGCTGCCGTTCCAGGCCGAGATGTTCAT	p.Ile others(5): Show p.Ile994fs	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	21/30	3091/5790	2981/4314	994/1437			chr3	TogoVar
ABCC5_chr3_183914934_184022884	183956127	T T	TATCACAT others(25): Show TATCACATCGGTTACATGCAGATCCGTGTGTAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0322 a0001c0003t0002g0322	1	301	0.0033	32	c.248 others(51): Show c.2483-2889_2483-2858dupTTACACACGGATCTGCATGTAACCGA TGTGAT		ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29						chr3	TogoVar
ABCC5_chr3_183914934_184022884	183957555	G G	GATCCGTG others(25): Show GATCCGTGTGTACATCACATCGGTTACATGCTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01175.hp2 others(13): Show HG01069.hp1 HG01071.hp1 HG01175.hp2 HG01257.hp2 HG01261.hp1 HG02451.hp1 HG02451.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03486.hp2 HG06807.hp1 NA19030.hp1 NA19064.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007	a0001c0001t0005g0192 a0001c0001t0006g0002 a0001c0001t0006g0017 others(12): Show a0001c0001t0005g0192 a0001c0001t0006g0002 a0001c0001t0006g0017 a0001c0001t0006g0029 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0006g0061 a0001c0001t0006g0290 a0001c0001t0006g0291 a0001c0001t0006g0353 a0001c0001t0007g0016 a0001c0001t0007g0141	16	376	0.0426	32	c.248 others(51): Show c.2482+2146_2482+2177dupAAGCATGTAACCGATGTGATGTACAC ACGGAT		ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29						chr3	TogoVar
ABCC5_chr3_183914934_184022884	183957727	C C	CATCACAT others(25): Show CATCACATCGGTTACATGCGGATCCGTGTGTAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp2 HG02055.hp2 others(23): Show HG00639.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0004 a0001c0004t0002 a0001c0004t0004	a0001c0004t0002g0072 a0001c0004t0002g0306 a0001c0004t0004g0114 others(23): Show a0001c0004t0002g0072 a0001c0004t0002g0306 a0001c0004t0004g0114 a0001c0004t0004g0117 a0001c0004t0004g0118 a0001c0004t0004g0119 a0001c0004t0004g0120 a0001c0004t0004g0121 a0001c0004t0004g0122 a0001c0004t0004g0123 a0001c0004t0004g0124 a0001c0004t0004g0125 a0001c0004t0004g0126 a0001c0004t0004g0127 a0001c0004t0004g0128 a0001c0004t0004g0129 a0001c0004t0004g0130 a0001c0004t0004g0131 a0001c0004t0004g0132 a0001c0004t0004g0137 a0001c0004t0004g0138 a0001c0004t0004g0139 a0001c0004t0004g0140 a0001c0004t0004g0257 a0001c0004t0004g0262 a0001c0004t0004g0292	26	376	0.0691	32	c.248 others(51): Show c.2482+1974_2482+2005dupATACACACGGATCCGCATGTAACCGA TGTGAT		ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29						chr3	TogoVar
ABCC5_chr3_183914934_184022884	183957743	T T	TGCGGATC others(25): Show TGCGGATCCGTGTGTATATCACATCGGTTACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02559.hp2 HG01167.hp2 HG01169.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0134 a0001c0004t0004g0135 a0001c0004t0004g0136 a0001c0004t0004g0134 a0001c0004t0004g0135 a0001c0004t0004g0136	3	370	0.0081	32	c.248 others(51): Show c.2482+1958_2482+1989dupGTGTAACCGATGTGATATACACACGG ATCCGC		ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29						chr3	TogoVar
ABCC9_chr12_21792389_21946426	21915286	G G	GTATGTAT others(25): Show GTATGTATATACATGTGTATATATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(64): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00738.hp1 HG01074.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03704.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18947.hp2 NA18967.hp2 NA18978.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0019 a0001c0002t0011 a0001c0003t0007 a0001c0003t0015 a0001c0004t0001 a0001c0005t0001 a0003c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0032 others(63): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0202 a0001c0001t0002g0208 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0003g0156 a0001c0001t0004g0127 a0001c0001t0004g0199 a0001c0001t0005g0175 a0001c0001t0006g0154 a0001c0001t0009g0129 a0001c0001t0014g0169 a0001c0001t0019g0140 a0001c0002t0011g0002 a0001c0003t0007g0180 a0001c0003t0007g0204 a0001c0003t0015g0173 a0001c0004t0001g0135 a0001c0005t0001g0016 a0003c0011t0001g0158	67	82	0.8171	32	c.816 others(47): Show c.816+381_816+382insTACACACATATATATACACATGTATATACA TA		ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39						chr12	TogoVar
ABCC9_chr12_21792389_21946426	21941598	T T	TACCTTTA others(25): Show TACCTTTATTAGCCATGCACCCCTTTATTAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 NA18962.hp1 NA18967.hp2 HG02027.hp1 NA18962.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0167 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0167	3	210	0.0143	32	c.-53 others(41): Show c.-536_-535insGGCTAATAAAGGGGTGCATGGCTAATAAAGGT		ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding					173		chr12	TogoVar
ABCF3_chr3_184181199_184199005	184191739	G G	GTTCCTTT others(25): Show GTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	321	0.0031	32	c.156 others(49): Show c.1569+486_1569+487insCCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	16/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ABCG2_chr4_88085269_88163639	88115232	G G	GTCTCTCT others(25): Show GTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01884.hp2 HG01952.hp1 others(16): Show HG00323.hp1 HG01884.hp2 HG01952.hp1 HG02015.hp2 HG02145.hp2 HG02523.hp2 HG02602.hp1 HG06807.hp2 NA18612.hp1 NA18952.hp1 NA18953.hp1 NA18968.hp2 NA18972.hp2 NA18983.hp1 NA18986.hp1 NA19000.hp1 NA19043.hp2 NA19065.hp2 NA19068.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0007c0011	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0003c0003t0001 a0007c0011t0001	a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0231 others(16): Show a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0004g0339 a0002c0002t0001g0008 a0002c0002t0002g0011 a0002c0002t0002g0018 a0002c0002t0002g0032 a0002c0002t0002g0037 a0002c0002t0002g0041 a0002c0002t0002g0046 a0002c0002t0011g0045 a0003c0003t0001g0247 a0003c0003t0001g0291 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0300 a0007c0011t0001g0190	19	231	0.0823	32	c.842 others(47): Show c.842-175_842-174insGAGAGAGAGAGAGAGACAGAGAGAGAGAGA GA		ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15						chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0341 a0001c0001t0008g0341	1	168	0.0060	32	c.842 others(47): Show c.842-199_842-198insTATATATATATATAGAGAGAGAGAGAGAGA GA		ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15						chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18982.hp2 HG00621.hp2 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0002 a0001c0001t0008 a0002c0002t0002	a0001c0001t0008g0340 a0002c0002t0002g0246 a0001c0001t0008g0340 a0002c0002t0002g0246	2	169	0.0118	32	c.842 others(47): Show c.842-199_842-198insTATATATATATAGAGAGAGAGAGAGAGAGA GA		ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15						chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03139.hp2 NA19054.hp2 HG01952.hp2 HG03139.hp2 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0002c0004 a0001c0005 a0002c0002 a0002c0004	a0001c0005t0001 a0002c0002t0002 a0002c0004t0001 a0001c0005t0001 a0002c0002t0002 a0002c0004t0001	a0001c0005t0001g0099 a0002c0002t0002g0035 a0002c0004t0001g0323 a0001c0005t0001g0099 a0002c0002t0002g0035 a0002c0004t0001g0323	3	170	0.0176	32	c.842 others(47): Show c.842-199_842-198insTATATATAGAGAGAGAGAGAGAGAGAGAGA GA		ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15						chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG01106.hp2 others(6): Show HG00438.hp1 HG00597.hp1 HG01106.hp2 HG01978.hp2 HG02004.hp1 HG02080.hp2 NA18941.hp2 NA18975.hp1 NA19064.hp2	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0002 a0003c0003 a0009c0009 a0002c0002 a0003c0003 a0009c0009	a0002c0002t0002 a0003c0003t0001 a0009c0009t0001 a0002c0002t0002 a0003c0003t0001 a0009c0009t0001	a0002c0002t0002g0009 a0002c0002t0002g0014 a0002c0002t0002g0016 others(6): Show a0002c0002t0002g0009 a0002c0002t0002g0014 a0002c0002t0002g0016 a0002c0002t0002g0038 a0002c0002t0002g0039 a0003c0003t0001g0195 a0003c0003t0001g0292 a0003c0003t0001g0294 a0009c0009t0001g0186	9	176	0.0511	32	c.842 others(47): Show c.842-199_842-198insTATATAGAGAGAGAGAGAGAGAGAGAGAGA GA		ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15						chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01943.hp1 HG01993.hp1 others(5): Show HG01074.hp2 HG01943.hp1 HG01993.hp1 HG02135.hp1 HG03491.hp1 HG03492.hp1 HG03927.hp2 NA19070.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0001c0001t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0223 a0001c0001t0001g0263 a0002c0002t0002g0017 others(4): Show a0001c0001t0001g0223 a0001c0001t0001g0263 a0002c0002t0002g0017 a0003c0003t0001g0004 a0003c0003t0001g0117 a0003c0003t0001g0182 a0003c0003t0001g0196	8	175	0.0457	32	c.842 others(47): Show c.842-199_842-198insTATAGAGAGAGAGAGAGAGAGAGAGAGAGA GA		ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15						chr4	TogoVar
ABCG2_chr4_88085269_88163639	88147016	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01109.hp1 others(20): Show HG00099.hp2 HG00642.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01346.hp2 HG01361.hp2 HG01928.hp1 HG02055.hp1 HG02293.hp2 HG02622.hp2 HG02895.hp2 HG03017.hp1 HG03239.hp2 HG03491.hp2 HG03654.hp2 NA18939.hp1 NA18956.hp2 NA18963.hp1 NA19043.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0062 a0001c0001t0001g0082 a0001c0001t0001g0122 others(20): Show a0001c0001t0001g0062 a0001c0001t0001g0082 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0004g0339 a0002c0002t0001g0054 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0073	23	152	0.1513	32	c.-19 others(49): Show c.-19-7034_-19-7003dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC		ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	1/15						chr4	TogoVar
ABHD12B_chr14_50867053_50909970	50870908	C C	CAAGAAAG others(25): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG02615.hp1 HG01517.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0003g0142 a0001c0001t0001g0007 a0001c0001t0003g0142	2	356	0.0056	32	c.-12 others(43): Show c.-1267_-1266insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA		ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding					1144		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 NA18612.hp2 HG02071.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0002 a0002c0002t0002 a0002c0004t0002	a0002c0002t0002g0003 a0002c0004t0002g0147 a0002c0002t0002g0003 a0002c0004t0002g0147	2	118	0.0169	32	c.-11 others(43): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA		ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding					1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG02055.hp2 HG02135.hp1 others(2): Show HG00099.hp2 HG02055.hp2 HG02135.hp1 HG02559.hp2 HG02965.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0004c0007t0001	a0001c0001t0001g0060 a0001c0001t0003g0192 a0002c0002t0002g0345 others(2): Show a0001c0001t0001g0060 a0001c0001t0003g0192 a0002c0002t0002g0345 a0002c0002t0002g0346 a0004c0007t0001g0243	5	121	0.0413	32	c.-11 others(43): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA		ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding					1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0328 a0001c0005t0004g0328	1	117	0.0085	32	c.-11 others(43): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA		ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding					1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAGA others(25): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	117	0.0085	32	c.-11 others(43): Show c.-1192_-1191insAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA		ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding					1069		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322362	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0177	1	296	0.0034	32	c.422 others(47): Show c.422+962_422+963insATATATATATATATATATATATATATATAT AT		ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12						chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0291 a0001c0001t0004g0291	1	93	0.0108	32	c.422 others(47): Show c.422+943_422+944insAAAATATATATATATATATATATATATATA TA		ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12						chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp2 HG02895.hp1 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0252 a0001c0003t0002g0259 a0001c0003t0002g0252 a0001c0003t0002g0259	2	94	0.0213	32	c.422 others(47): Show c.422+943_422+944insAAAAAATATATATATATATATATATATATA TA		ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12						chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19240.hp1 HG02486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0226 a0001c0002t0002g0204 a0001c0001t0004g0226 a0001c0002t0002g0204	2	94	0.0213	32	c.422 others(47): Show c.422+943_422+944insAAAAAAAATATATATATATATATATATATA TA		ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12						chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0143 a0001c0002t0002g0143	1	93	0.0108	32	c.422 others(47): Show c.422+943_422+944insAAAAAAAAAAAATATATATATATATATATA TA		ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12						chr20	TogoVar
ABHD18_chr4_127960406_128044953	128034091	T T	TAATCCGA others(25): Show TAATCCGAAACAACGCTGAGTTAGCCTTATAGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0111 a0001c0001t0024g0111	1	342	0.0029	32	c.134 others(51): Show c.1344-1671_1344-1670insAATCCGAAACAACGCTGAGTTAGCCT TATAGC		ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	12/12						chr4	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GCATATAT others(25): Show GCATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0184 a0004c0004t0001g0184	1	84	0.0119	32	c.837 others(49): Show c.837+1395_837+1396insCATATATATATATATATATATATATATA TATA		ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9						chr3	TogoVar
ABI1_chr10_26741596_26865958	26773215	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02040.hp1 HG00597.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0118 a0001c0001t0001g0038 a0001c0001t0001g0118	2	120	0.0167	32	c.463 others(49): Show c.463-2127_463-2126insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	3/10						chr10	TogoVar
ABI1_chr10_26741596_26865958	26811721	A A	ACAAAGAT others(25): Show ACAAAGATTTGTATAAATTTGTATAAATTTATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02738.hp1 HG02145.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0272 a0001c0001t0007g0102 a0001c0001t0002g0272 a0001c0001t0007g0102	2	87	0.0230	32	c.285 others(51): Show c.285+11385_285+11416dupCATAAATTTATACAAATTTATACAAA TCTTTG		ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	2/10						chr10	TogoVar
ABITRAM_chr9_108929400_108945954	108930587	G G	GGCTGAGG others(25): Show GGCTGAGGCATTCTTTTTTTTTTTATTCTCTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	456	0.0022	32	c.-39 others(43): Show c.-3900_-3899insGCTGAGGCATTCTTTTTTTTTTTATTCTCTTA		ABITRAM	ENSG00000119328.12	transcript	ENST00000322940.11	protein_coding					3812		chr9	TogoVar
ABL2_chr1_179094330_179234677	179174532	G G	GTGTGTGT others(25): Show GTGTGTGTATACATATATATACATATATATGTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	348	0.0029	32	c.158 others(51): Show c.158-41190_158-41159dupTACATATATATGTATATATATGTATA CACACA		ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11						chr1	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03927.hp1 HG03017.hp1 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0058 a0001c0003t0001 a0001c0003t0058	a0001c0003t0001g0232 a0001c0003t0058g0212 a0001c0003t0001g0232 a0001c0003t0058g0212	2	9	0.2222	32	c.982 others(47): Show c.982+778_982+779insTATATATATATATATATATATACACACACA CA		ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22						chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19065.hp2 NA19091.hp2 HG02071.hp1 NA19065.hp2 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0002 a0001c0010t0025 a0001c0003t0002 a0001c0010t0025	a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0010t0025g0035 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0010t0025g0035	3	10	0.3000	32	c.982 others(47): Show c.982+778_982+779insTATATATATATATATATATACACACACACA CA		ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22						chr10	TogoVar
ABLIM2_chr4_7960327_8163813	7973075	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02451.hp1 HG02965.hp2 others(7): Show HG01069.hp2 HG02451.hp1 HG02965.hp2 HG06807.hp1 NA18747.hp1 NA18952.hp2 NA18970.hp1 NA18971.hp2 NA18995.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0002t0002 a0001c0002t0003 a0001c0004t0003	a0001c0001t0001g0282 a0001c0001t0001g0311 a0001c0001t0003g0170 others(7): Show a0001c0001t0001g0282 a0001c0001t0001g0311 a0001c0001t0003g0170 a0001c0001t0006g0216 a0001c0001t0012g0008 a0001c0002t0002g0289 a0001c0002t0003g0039 a0001c0002t0003g0189 a0001c0002t0003g0281 a0001c0004t0003g0248	10	126	0.0794	32	c.182 others(51): Show c.1825-6004_1825-5973dupCACACACACACACACACACACACACA CACACA		ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20						chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8066360	G G	GGGAGGGA others(25): Show GGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0101 a0001c0001t0028g0101	1	56	0.0179	32	c.676 others(49): Show c.676-5307_676-5306insTTCCTTCCTTCCTTCCTTCCTTCCTTCC CTCC		ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	6/20						chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8091545	A A	ATTATTTA others(25): Show ATTATTTATAATTATATATATTATATATAATTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0227 a0001c0002t0003g0227	1	252	0.0040	32	c.339 others(49): Show c.339-3262_339-3261insAAATTATATATAATATATATAATTATAA ATAA		ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	3/20						chr4	TogoVar
ABR_chr17_998519_1184981	1031836	T T	TTCCCCCG others(25): Show TTCCCCCGCGCTCGCCTCCCTCCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	336	0.0030	32	c.179 others(53): Show c.1791+18213_1791+18214insGGGAGGGAGGGGAGGGAGGCGAGC GCGGGGGA		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22						chr17	TogoVar
ABR_chr17_998519_1184981	1031837	T T	TCCCCCGC others(25): Show TCCCCCGCGCTCGCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0045 a0001c0001t0009g0045	1	334	0.0030	32	c.179 others(53): Show c.1791+18212_1791+18213insGAGGGAGGGAGGGAGGGAGGCGAG CGCGGGGG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22						chr17	TogoVar
ABR_chr17_998519_1184981	1136310	G G	GCTCCACC others(25): Show GCTCCACCTCCCAGGTTCAAGTGATTCTCTTGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(137): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG06807.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19080.hp1 NA19085.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0001c0013 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0049 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0062 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0081 a0001c0001t0086 a0001c0001t0088 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0002t0091 a0001c0010t0001 a0001c0013t0018 a0001c0014t0010	a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 others(137): Show a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0215 a0001c0001t0001g0231 a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0098 a0001c0001t0002g0113 a0001c0001t0002g0130 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0002g0171 a0001c0001t0002g0183 a0001c0001t0002g0191 a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0129 a0001c0001t0003g0149 a0001c0001t0003g0167 a0001c0001t0003g0201 a0001c0001t0003g0220 a0001c0001t0003g0223 a0001c0001t0004g0249 a0001c0001t0004g0252 a0001c0001t0004g0291 a0001c0001t0004g0299 a0001c0001t0004g0320 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0005g0255 a0001c0001t0005g0267 a0001c0001t0005g0270 a0001c0001t0005g0272 a0001c0001t0005g0274 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0292 a0001c0001t0005g0305 a0001c0001t0005g0316 a0001c0001t0005g0319 a0001c0001t0005g0323 a0001c0001t0006g0055 a0001c0001t0006g0075 a0001c0001t0006g0088 a0001c0001t0006g0140 a0001c0001t0006g0141 a0001c0001t0006g0146 a0001c0001t0006g0207 a0001c0001t0007g0250 a0001c0001t0007g0307 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0007g0326 a0001c0001t0007g0334 a0001c0001t0008g0010 a0001c0001t0008g0018 a0001c0001t0008g0041 a0001c0001t0009g0022 a0001c0001t0009g0049 a0001c0001t0010g0275 a0001c0001t0010g0315 a0001c0001t0010g0322 a0001c0001t0012g0092 a0001c0001t0013g0047 a0001c0001t0013g0048 a0001c0001t0014g0102 a0001c0001t0014g0244 a0001c0001t0015g0266 a0001c0001t0015g0276 a0001c0001t0015g0293 a0001c0001t0017g0226 a0001c0001t0019g0056 a0001c0001t0019g0212 a0001c0001t0019g0217 a0001c0001t0020g0160 a0001c0001t0021g0273 a0001c0001t0022g0030 a0001c0001t0022g0046 a0001c0001t0023g0034 a0001c0001t0032g0304 a0001c0001t0033g0265 a0001c0001t0035g0013 a0001c0001t0036g0043 a0001c0001t0049g0197 a0001c0001t0056g0175 a0001c0001t0057g0074 a0001c0001t0058g0165 a0001c0001t0062g0190 a0001c0001t0066g0090 a0001c0001t0067g0159 a0001c0001t0068g0152 a0001c0001t0071g0176 a0001c0001t0073g0114 a0001c0001t0074g0155 a0001c0001t0075g0172 a0001c0001t0076g0079 a0001c0001t0078g0268 a0001c0001t0081g0303 a0001c0001t0086g0312 a0001c0001t0088g0332 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0163 a0001c0002t0001g0206 a0001c0002t0002g0099 a0001c0002t0002g0154 a0001c0002t0002g0173 a0001c0002t0008g0036 a0001c0002t0011g0108 a0001c0002t0011g0229 a0001c0002t0012g0245 a0001c0002t0091g0337 a0001c0010t0001g0138 a0001c0013t0018g0107 a0001c0014t0010g0308	140	336	0.4167	32	c.62- others(49): Show c.62-10975_62-10944dupGCAAGAGAATCACTTGAACCTGGGAGGT GGAG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
ABTB3_chr12_107313434_107664642	107508438	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0047 a0002c0002t0003g0047	1	42	0.0238	32	c.113 others(53): Show c.1136-12019_1136-12018insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107640967	G G	GAGGAGAG others(25): Show GAGGAGAGATTGATGCTGAAATGAGGAGGAGGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	186	0.0054	32	c.284 others(49): Show c.2840+563_2840+594dupTTGATGCTGAAATGAGGAGGAGGCAGGA GAGA		ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACA_chr17_37079992_37411836	37163196	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18991.hp2 HG02630.hp2 NA18991.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0079 a0001c0003t0001g0070 a0001c0003t0001g0079	2	84	0.0238	32	c.508 others(51): Show c.5080-1147_5080-1146insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55						chr17	TogoVar

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