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
ASTN2_chr9_116418112_117420057	117060510	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03209.hp2 HG02922.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0099 a0001c0001t0001g0037 a0001c0001t0001g0099	2	45	0.0444	39	c.127 others(60): Show c.1277-20546_1277-20545insCCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22						chr9	TogoVar
ATAD1_chr10_87746512_87823226	87798625	G G	GGGTGTGT others(32): Show GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp2 HG03239.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0096 a0001c0001t0003g0042 a0001c0001t0003g0096	2	145	0.0138	39	c.163 others(56): Show c.163-5871_163-5870insACACACACACACACACACACACACACAC ACACACACACC		ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9						chr10	TogoVar
ATAD1_chr10_87746512_87823226	87798625	G G	GTGTGTGT others(32): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	144	0.0069	39	c.163 others(56): Show c.163-5871_163-5870insACACACACACACACACACACACACACAC ACACACACACA		ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9						chr10	TogoVar
ATAD3A_chr1_1507162_1539685	1516294	T T	TGGTGTTG others(32): Show TGGTGTTGGTGAGGGCGTCTGGTCATCCGGAGGGAGGGCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp2 HG02258.hp1 HG03486.hp2	a0001 a0001	a0001c0037 a0001c0038 a0001c0037 a0001c0038	a0001c0037t0018 a0001c0038t0019 a0001c0037t0018 a0001c0038t0019	a0001c0037t0018g0051 a0001c0038t0019g0048 a0001c0037t0018g0051 a0001c0038t0019g0048	2	419	0.0048	39	c.282 others(54): Show c.282+229_282+230insATCCGGAGGGAGGGCCGGTGTTGGTGAGGG CGTCTGGTC		ATAD3A	ENSG00000197785.14	transcript	ENST00000378756.8	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3A_chr1_1507162_1539685	1516323	G G	GAGGGAGG others(32): Show GAGGGAGGGCCGGTGTTGGTGAGGGCGTCTGGTCGTCCGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG03130.hp1 others(2): Show HG02622.hp2 HG02809.hp2 HG03130.hp1 HG03130.hp2 HG03471.hp2	a0005 a0009 a0005 a0009	a0005c0009 a0009c0017 a0005c0009 a0009c0017	a0005c0009t0008 a0009c0017t0008 a0005c0009t0008 a0009c0017t0008	a0005c0009t0008g0045 a0005c0009t0008g0046 a0005c0009t0008g0047 others(1): Show a0005c0009t0008g0045 a0005c0009t0008g0046 a0005c0009t0008g0047 a0009c0017t0008g0018	5	418	0.0120	39	c.282 others(54): Show c.282+273_282+274insTAGGGAGGGCCGGTGTTGGTGAGGGCGTCT GGTCGTCCG		ATAD3A	ENSG00000197785.14	transcript	ENST00000378756.8	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1461589	C C	CTGAGACC others(32): Show CTGAGACCCCCATGTCGGAATTCGAAGGAGAGGCTCCTCA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0020 a0020	a0020c0050 a0020c0050	a0020c0050t0074 a0020c0050t0074	a0020c0050t0074g0130 a0020c0050t0074g0130	1	408	0.0025	39	c.980 others(54): Show c.980+703_980+704insGCTCCTCATGAGACCCCCATGTCGGAATTC GAAGGAGAG		ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1461621	T T	TCTCCTCA others(32): Show TCTCCTCATGAGACCCCCATGTAGGGACTGGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03704.hp1 HG02129.hp2 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0124 a0002c0002t0024 a0002c0002t0124	a0002c0002t0024g0100 a0002c0002t0124g0308 a0002c0002t0024g0100 a0002c0002t0124g0308	2	214	0.0093	39	c.980 others(54): Show c.980+770_980+808dupCTGGAGGGAGAGGCTCCTCATGAGACCCCC ATGTAGGGA		ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1461621	T T	TCTCCTCA others(32): Show TCTCCTCATGAGACCCCCATGTCGGAATTCGAAGGAGAGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(109): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG01069.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18973.hp2 NA18978.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18990.hp2 NA18997.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19075.hp2 NA19079.hp1 NA19080.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0008 a0009 a0010 a0018 a0023	a0001c0001 a0001c0004 a0001c0005 others(12): Show a0001c0001 a0001c0004 a0001c0005 a0001c0023 a0001c0040 a0002c0002 a0002c0006 a0002c0029 a0003c0041 a0005c0010 a0008c0044 a0009c0016 a0010c0024 a0018c0038 a0023c0052	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(57): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0036 a0001c0001t0044 a0001c0001t0048 a0001c0001t0049 a0001c0001t0075 a0001c0001t0092 a0001c0001t0095 a0001c0001t0111 a0001c0001t0112 a0001c0001t0126 a0001c0001t0138 a0001c0001t0140 a0001c0001t0155 a0001c0001t0158 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0168 a0001c0001t0178 a0001c0001t0193 a0001c0001t0194 a0001c0004t0014 a0001c0004t0040 a0001c0004t0052 a0001c0004t0054 a0001c0004t0105 a0001c0004t0114 a0001c0005t0133 a0001c0023t0021 a0001c0023t0073 a0001c0040t0153 a0002c0002t0096 a0002c0006t0001 a0002c0006t0022 a0002c0006t0093 a0002c0006t0094 a0002c0006t0099 a0002c0006t0127 a0002c0029t0039 a0003c0041t0057 a0005c0010t0077 a0005c0010t0078 a0005c0010t0183 a0008c0044t0154 a0009c0016t0134 a0009c0016t0180 a0010c0024t0039 a0010c0024t0100 a0018c0038t0003 a0023c0052t0053	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(102): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0135 a0001c0001t0001g0197 a0001c0001t0001g0215 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0265 a0001c0001t0003g0268 a0001c0001t0003g0273 a0001c0001t0003g0277 a0001c0001t0013g0035 a0001c0001t0013g0263 a0001c0001t0013g0275 a0001c0001t0021g0291 a0001c0001t0021g0292 a0001c0001t0022g0157 a0001c0001t0022g0288 a0001c0001t0026g0239 a0001c0001t0026g0303 a0001c0001t0029g0003 a0001c0001t0029g0251 a0001c0001t0030g0274 a0001c0001t0031g0019 a0001c0001t0031g0262 a0001c0001t0036g0287 a0001c0001t0036g0306 a0001c0001t0044g0003 a0001c0001t0044g0269 a0001c0001t0048g0037 a0001c0001t0048g0271 a0001c0001t0049g0219 a0001c0001t0049g0267 a0001c0001t0075g0286 a0001c0001t0092g0131 a0001c0001t0095g0058 a0001c0001t0111g0270 a0001c0001t0112g0228 a0001c0001t0126g0064 a0001c0001t0138g0037 a0001c0001t0140g0305 a0001c0001t0155g0245 a0001c0001t0158g0266 a0001c0001t0163g0005 a0001c0001t0164g0007 a0001c0001t0165g0036 a0001c0001t0166g0003 a0001c0001t0168g0244 a0001c0001t0178g0221 a0001c0001t0193g0007 a0001c0001t0194g0035 a0001c0004t0014g0148 a0001c0004t0040g0027 a0001c0004t0052g0151 a0001c0004t0054g0298 a0001c0004t0105g0062 a0001c0004t0114g0027 a0001c0005t0133g0307 a0001c0023t0021g0041 a0001c0023t0073g0192 a0001c0040t0153g0247 a0002c0002t0096g0116 a0002c0006t0001g0206 a0002c0006t0022g0086 a0002c0006t0093g0055 a0002c0006t0094g0054 a0002c0006t0099g0104 a0002c0006t0127g0109 a0002c0029t0039g0085 a0003c0041t0057g0048 a0005c0010t0077g0032 a0005c0010t0078g0281 a0005c0010t0183g0032 a0008c0044t0154g0259 a0009c0016t0134g0299 a0009c0016t0180g0214 a0010c0024t0039g0023 a0010c0024t0100g0023 a0018c0038t0003g0224 a0023c0052t0053g0146	112	324	0.3457	39	c.980 others(54): Show c.980+725_980+726insCGGAATTCGAAGGAGAGGCTCCTCATGAGA CCCCCATGT		ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1461621	T T	TCTCCTCA others(32): Show TCTCCTCATGAGACCCCCATGTTGGAATTCGAAGGAGAGG	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0161 a0001c0001t0161	a0001c0001t0161g0003 a0001c0001t0161g0003	1	213	0.0047	39	c.980 others(54): Show c.980+725_980+726insTGGAATTCGAAGGAGAGGCTCCTCATGAGA CCCCCATGT		ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1461682	A A	AGGGACTG others(32): Show AGGGACTGGAGGGAGAGGCTCCTCATGAGACCCCCATGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01109.hp1 HG01433.hp2 others(4): Show HG00558.hp2 HG01109.hp1 HG01433.hp2 HG02055.hp2 HG03225.hp2 HG03704.hp2 NA21309.hp2	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0004 a0001c0022 a0002c0002 others(1): Show a0001c0004 a0001c0022 a0002c0002 a0021c0054	a0001c0004t0014 a0001c0004t0186 a0001c0004t0189 others(4): Show a0001c0004t0014 a0001c0004t0186 a0001c0004t0189 a0001c0004t0190 a0001c0022t0137 a0002c0002t0097 a0021c0054t0192	a0001c0004t0014g0139 a0001c0004t0186g0143 a0001c0004t0189g0149 others(4): Show a0001c0004t0014g0139 a0001c0004t0186g0143 a0001c0004t0189g0149 a0001c0004t0190g0150 a0001c0022t0137g0300 a0002c0002t0097g0052 a0021c0054t0192g0309	7	347	0.0202	39	c.980 others(54): Show c.980+803_980+804insGGGGACTGGAGGGAGAGGCTCCTCATGAGA CCCCCATGT		ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1461719	G G	GTAGGGAC others(32): Show GTAGGGACTGGAGGGAGAGGCTCCTCATGAGACCCCCATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02109.hp1 HG02717.hp1 others(1): Show HG01069.hp1 HG02109.hp1 HG02717.hp1 HG03041.hp1	a0005 a0008 a0005 a0008	a0005c0010 a0008c0044 a0005c0010 a0008c0044	a0005c0010t0077 a0005c0010t0078 a0005c0010t0183 others(1): Show a0005c0010t0077 a0005c0010t0078 a0005c0010t0183 a0008c0044t0154	a0005c0010t0077g0032 a0005c0010t0078g0281 a0005c0010t0183g0032 others(1): Show a0005c0010t0077g0032 a0005c0010t0078g0281 a0005c0010t0183g0032 a0008c0044t0154g0259	4	279	0.0143	39	c.980 others(54): Show c.980+808_980+809insCTGGAGGGAGAGGCTCCTCATGAGACCCCC ATATAGGGA		ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1461719	G G	GTGGGGAC others(32): Show GTGGGGACTGGAGGCAGAGGCTCCTCATGAGACCCCCATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0051 a0001c0022t0051	a0001c0022t0051g0159 a0001c0022t0051g0159	1	276	0.0036	39	c.980 others(54): Show c.980+803_980+804insGGGGACTGGAGGCAGAGGCTCCTCATGAGA CCCCCATAT		ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1461719	G G	GTGGGGAC others(32): Show GTGGGGACTGGAGGGAGAGGCTCCTCATGAGACCCCCATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0051 a0002c0031t0051	a0002c0031t0051g0196 a0002c0031t0051g0196	1	276	0.0036	39	c.980 others(54): Show c.980+803_980+804insGGGGACTGGAGGGAGAGGCTCCTCATGAGA CCCCCATAT		ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1461726	T T	TTGGAGGG others(32): Show TTGGAGGGAGAGGCTCCTCATGAGACCCCCATGTAGGGAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03453.hp1 HG03130.hp2 HG03453.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0041 a0002c0002 a0003c0041	a0002c0002t0028 a0003c0041t0057 a0002c0002t0028 a0003c0041t0057	a0002c0002t0028g0199 a0003c0041t0057g0048 a0002c0002t0028g0199 a0003c0041t0057g0048	2	399	0.0050	39	c.981 others(54): Show c.981-841_981-840insAGGGACTGGAGGGAGAGGCTCCTCATGAGA CCCCCATGT		ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1461767	A A	AGAGGGAG others(32): Show AGAGGGAGAGGCTCCTCATGAGACCCCCATGTAGGGATTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0015 a0015	a0015c0053 a0015c0053	a0015c0053t0069 a0015c0053t0069	a0015c0053t0069g0050 a0015c0053t0069g0050	1	259	0.0039	39	c.981 others(54): Show c.981-814_981-813insAGACCCCCATGTAGGGATTGGAGGGAGAGG CTCCTCATG		ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0029 a0001c0001t0005g0029	1	149	0.0067	39	c.108 others(56): Show c.108+5681_108+5682insTTTCTTTCTTTCTTTCCTTCTTTCTTTC TTTTCTTTTCT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7						chr5	TogoVar
ATG10_chr5_81967023_82261133	82118400	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp2 HG01243.hp1 HG02280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0188 a0003c0003t0001g0205 a0003c0003t0001g0188 a0003c0003t0001g0205	2	187	0.0107	39	c.217 others(58): Show c.217-45994_217-45993insATATATATATATATATATATATATAT ATATATATTATAT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATOH8_chr2_85748991_85796383	85753898	C C	CGAACTGG others(32): Show CGAACTGGGCTTCTGTGTAAACTGAGGCTAAACAAACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0248 a0001c0001t0042g0248	1	376	0.0027	39	c.-29 others(48): Show c.-292_-291insGAACTGGGCTTCTGTGTAAACTGAGGCTAAACAAAC ACA		ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding					92		chr2	TogoVar
ATOSA_chr15_52576321_52684388	52679769	T T	TCCTCCTC others(32): Show TCCTCCTCCTCCTCCTCCCCCCTCCCCCTCCTTTCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0171 a0001c0003t0001g0171	1	360	0.0028	39	c.-10 others(50): Show c.-1044_-1043insGGGGGGAAAGGAGGGGGAGGGGGGAGGAGGAGGA GGAGG		ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding					382		chr15	TogoVar
ATP11A_chr13_112685038_112892168	112767314	C C	CGTTGGGG others(32): Show CGTTGGGGGCCCCTGTGGAAAGGTGGGGAGATGTGGGGGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0041 a0001c0002t0004g0041	1	134	0.0075	39	c.40- others(56): Show c.40-17804_40-17803insAAAGGTGGGGAGATGTGGGGGTGTTGGG GGCCCCTGTGG		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804052	T T	TCCTCCTT others(32): Show TCCTCCTTGCTTCCCTTCCTTCCCTCATTCCCCTCCTTCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp2 NA19043.hp2 HG02886.hp1 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0021 a0001c0004t0003 a0001c0001t0021 a0001c0004t0003	a0001c0001t0021g0240 a0001c0004t0003g0049 a0001c0004t0003g0079 a0001c0001t0021g0240 a0001c0004t0003g0049 a0001c0004t0003g0079	3	227	0.0132	39	c.163 others(54): Show c.163-898_163-897insGCTTCCCTTCCTTCCCTCATTCCCCTCCTT CCCCTCCTT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804052	T T	TCCTCCTT others(32): Show TCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA19065.hp2 HG02895.hp2 NA19065.hp2	a0001 a0001	a0001c0006 a0001c0011 a0001c0006 a0001c0011	a0001c0006t0004 a0001c0011t0001 a0001c0006t0004 a0001c0011t0001	a0001c0006t0004g0115 a0001c0011t0001g0139 a0001c0006t0004g0115 a0001c0011t0001g0139	2	226	0.0088	39	c.163 others(54): Show c.163-898_163-897insTCTTCCCTTCCTTCCCTCATTCCCCTCATT CCCCTCCTT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804197	C C	CTTCCCCT others(32): Show CTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 NA20300.hp1 HG01243.hp2 HG02559.hp2 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0038 a0001c0001 a0009c0038	a0001c0001t0001 a0009c0038t0071 a0001c0001t0001 a0009c0038t0071	a0001c0001t0001g0068 a0001c0001t0001g0146 a0009c0038t0071g0044 a0001c0001t0001g0068 a0001c0001t0001g0146 a0009c0038t0071g0044	3	201	0.0149	39	c.163 others(54): Show c.163-749_163-748insTTCCTCCTTTCTTCCCTTCCTTCCCTCATT CCCCTCCTT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804305	T T	TCCTCCTT others(32): Show TCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	212	0.0047	39	c.163 others(54): Show c.163-645_163-644insTCTTCCCTTCCTTCCCTCATTCCCCTCATT CCCCTCCTT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP1A3_chr19_41961582_41999230	41990360	C C	CCTCTCTC others(32): Show CCTCTCTCTGTCTCTCTCAAATCTTCTCTCTCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	280	0.0036	39	c.7-1 others(52): Show c.7-1799_7-1798insAGAGGAGAGAGAGAGAAGATTTGAGAGAGACA GAGAGAG		ATP1A3	ENSG00000105409.19	transcript	ENST00000648268.1	protein_coding	1/22						chr19	TogoVar
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	8	0.1250	39	c.32 others(50): Show c.3298_*3299insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding					3197		chr17	TogoVar
ATP5ME_chr4_667436_679276	669342	C C	CACTACCC others(32): Show CACTACCCCATGCTGCTGCCACTACTCCATGCTGCTGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA19002.hp1 NA19080.hp2 NA18949.hp1 NA19002.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	384	0.0078	39	c.31 others(50): Show c.3157_*3158insTGGCAGCAGCATGGAGTAGTGGCAGCAGCATGGG GTAGT		ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding					3093		chr4	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737113	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01081.hp1 HG02040.hp1 others(14): Show HG00423.hp1 HG01081.hp1 HG02040.hp1 HG02735.hp1 HG02738.hp1 HG03579.hp2 HG04184.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18967.hp1 NA18967.hp2 NA18971.hp2 NA18979.hp2 NA19006.hp2 NA19054.hp1 NA19054.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0002c0025 a0004c0018	a0001c0001t0001 a0001c0001t0013 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0007t0001 a0002c0002t0001 a0002c0025t0001 a0004c0018t0001	a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0047 others(14): Show a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0153 a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0013g0372 a0001c0007t0001g0310 a0002c0002t0001g0021 a0002c0002t0001g0054 a0002c0002t0001g0084 a0002c0025t0001g0205 a0004c0018t0001g0268	17	180	0.0944	39	c.157 others(58): Show c.1572+2426_1572+2427insTATATATATATATATATATATATATA TATATATATATAT		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21						chr7	TogoVar
ATP9A_chr20_51591514_51773390	51651237	C C	CATAATAT others(32): Show CATAATATATTATATAATATATATTTACATTATATATTAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	260	0.0038	39	c.150 others(58): Show c.1506+5700_1506+5701insATAATATATAATGTAAATATATATTA TATAATATATTAT		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27						chr20	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18994.hp1 HG02015.hp2 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0038 a0001c0002t0004g0052 a0001c0002t0004g0038 a0001c0002t0004g0052	2	35	0.0571	39	c.317 others(60): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATR_chr3_142444235_142583733	142543400	C C	CTTCTTCC others(32): Show CTTCTTCCTCCCTCCTTTCCTCCCTCCCTCCGTCCGTCCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01099.hp2 others(18): Show HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01358.hp1 HG01934.hp2 HG02148.hp2 HG02165.hp2 HG02300.hp1 HG02622.hp2 HG04199.hp2 NA18951.hp1 NA18956.hp1 NA18957.hp2 NA18970.hp1 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA19010.hp2 NA19068.hp2 NA19077.hp1 NA19087.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0005 a0003c0003 a0002c0002 a0002c0005 a0003c0003	a0002c0002t0001 a0002c0005t0001 a0003c0003t0001 a0002c0002t0001 a0002c0005t0001 a0003c0003t0001	a0002c0002t0001g0288 a0002c0002t0001g0290 a0002c0005t0001g0029 others(18): Show a0002c0002t0001g0288 a0002c0002t0001g0290 a0002c0005t0001g0029 a0002c0005t0001g0030 a0002c0005t0001g0031 a0002c0005t0001g0032 a0002c0005t0001g0212 a0002c0005t0001g0278 a0002c0005t0001g0279 a0002c0005t0001g0280 a0002c0005t0001g0281 a0002c0005t0001g0282 a0002c0005t0001g0283 a0002c0005t0001g0284 a0002c0005t0001g0285 a0002c0005t0001g0286 a0002c0005t0001g0289 a0002c0005t0001g0291 a0002c0005t0001g0292 a0002c0005t0001g0307 a0003c0003t0001g0182	21	320	0.0656	39	c.335 others(56): Show c.3358-682_3358-644dupAGGACGGACGGAGGGAGGGAGGAAAGGA GGGAGGAAGAA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	16/46						chr3	TogoVar
ATXN2_chr12_111447214_111604315	111592782	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	78	0.0128	39	c.251 others(56): Show c.251+6001_251+6002insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(32): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01168.hp2 HG01169.hp2 HG01884.hp2 others(26): Show HG01168.hp2 HG01169.hp2 HG01884.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 NA18612.hp1 NA18946.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18982.hp2 NA18983.hp2 NA18993.hp2 NA18999.hp2 NA19011.hp1 NA19060.hp2 NA19067.hp1 NA19077.hp2 NA19080.hp1 NA19090.hp2	a0004 a0042 a0004 a0042	a0004c0003 a0042c0044 a0004c0003 a0042c0044	a0004c0003t0001 a0004c0003t0002 a0004c0003t0020 others(2): Show a0004c0003t0001 a0004c0003t0002 a0004c0003t0020 a0004c0003t0045 a0042c0044t0001	a0004c0003t0001g0003 a0004c0003t0001g0039 a0004c0003t0001g0044 others(24): Show a0004c0003t0001g0003 a0004c0003t0001g0039 a0004c0003t0001g0044 a0004c0003t0001g0047 a0004c0003t0001g0063 a0004c0003t0001g0065 a0004c0003t0001g0067 a0004c0003t0001g0071 a0004c0003t0001g0079 a0004c0003t0001g0086 a0004c0003t0001g0087 a0004c0003t0001g0089 a0004c0003t0001g0103 a0004c0003t0001g0104 a0004c0003t0001g0107 a0004c0003t0001g0110 a0004c0003t0001g0182 a0004c0003t0001g0313 a0004c0003t0001g0316 a0004c0003t0001g0317 a0004c0003t0002g0069 a0004c0003t0002g0081 a0004c0003t0002g0082 a0004c0003t0002g0085 a0004c0003t0020g0357 a0004c0003t0045g0105 a0042c0044t0001g0060	29	314	0.0924	39	c.916 others(46): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG C	p.Gly others(51): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361			chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(32): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00323.hp2 HG01069.hp1 HG01192.hp1 others(7): Show HG00323.hp2 HG01069.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01346.hp1 HG01975.hp1 HG02698.hp2 HG02735.hp2 HG04228.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0004 a0010c0011t0006 a0010c0011t0014 others(1): Show a0010c0011t0004 a0010c0011t0006 a0010c0011t0014 a0010c0011t0034	a0010c0011t0004g0332 a0010c0011t0004g0333 a0010c0011t0006g0279 others(7): Show a0010c0011t0004g0332 a0010c0011t0004g0333 a0010c0011t0006g0279 a0010c0011t0006g0359 a0010c0011t0006g0366 a0010c0011t0006g0370 a0010c0011t0014g0146 a0010c0011t0014g0147 a0010c0011t0014g0369 a0010c0011t0034g0368	10	111	0.0901	39	c.915 others(46): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA G	p.Gln others(52): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361			chr14	TogoVar
AUTS2_chr7_69593475_70798506	69614367	T T	TCTTTCTT others(32): Show TCTTTCTTTCTTTCTTTCTTTTCTTTCTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	51	0.0196	39	c.309 others(58): Show c.309+14405_309+14406insCTTTCTTTCTTTCTTTCTTTTCTTTC TTTTCTTTCTTTC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18						chr7	TogoVar
AUTS2_chr7_69593475_70798506	69614367	T T	TCTTTCTT others(32): Show TCTTTCTTTCTTTTCTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01952.hp1 HG02165.hp1 others(3): Show HG01243.hp1 HG01952.hp1 HG02165.hp1 HG03017.hp1 HG03516.hp1 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025 a0002c0002t0024	a0001c0001t0002g0053 a0001c0001t0004g0051 a0001c0001t0008g0063 others(3): Show a0001c0001t0002g0053 a0001c0001t0004g0051 a0001c0001t0008g0063 a0001c0001t0010g0064 a0001c0001t0025g0050 a0002c0002t0024g0059	6	56	0.1071	39	c.309 others(58): Show c.309+14405_309+14406insCTTTCTTTCTTTTCTTTCTTTTCTTT CTTTCTTTCTTTC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18						chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(32): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0059 a0002c0002t0024g0059	1	8	0.1250	39	c.691 others(60): Show c.691-119307_691-119306insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	6	0.1667	39	c.446 others(58): Show c.446-23466_446-23465insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVL9_chr7_32490489_32593726	32579430	A A	ATTATATA others(32): Show ATTATATATATAATAATATATATATAATATTATATTATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 NA18944.hp2 others(3): Show HG00544.hp2 HG00621.hp2 NA18944.hp2 NA19005.hp2 NA19063.hp2 NA19066.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0027 a0002c0003t0082 a0002c0003t0083 others(1): Show a0002c0003t0027 a0002c0003t0082 a0002c0003t0083 a0002c0003t0106	a0002c0003t0027g0117 a0002c0003t0027g0144 a0002c0003t0027g0145 others(3): Show a0002c0003t0027g0117 a0002c0003t0027g0144 a0002c0003t0027g0145 a0002c0003t0082g0133 a0002c0003t0083g0131 a0002c0003t0106g0021	6	298	0.0201	39	c.168 others(56): Show c.1689-788_1689-787insTATATATATAATAATATATATATAATAT TATATTATATT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AXL_chr19_41214223_41266766	41250382	A A	ACCCACTC others(32): Show ACCCACTCATTCGTTCATTATGGAGCACCTCCTGTGTACC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0091 a0001c0001t0010g0091	1	312	0.0032	39	c.171 others(58): Show c.1711+1563_1711+1601dupCCCACTCATTCGTTCATTATGGAGCA CCTCCTGTGTACC		AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	14/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0163	1	39	0.0256	39	c.-38 others(50): Show c.-3878_-3877insTATATATATATATATATATATATATATATATATA TATTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0009 a0002c0002t0011g0009	1	39	0.0256	39	c.-38 others(50): Show c.-3878_-3877insTATATATATATATATATATATATATATATATATA TTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	39	0.0256	39	c.-38 others(50): Show c.-3878_-3877insTATATATATATATATATATATATATATATATATT TTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 NA19079.hp1 NA19087.hp1 others(1): Show HG00609.hp2 NA19079.hp1 NA19087.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0006 a0002c0002t0002 a0001c0001t0005 a0001c0001t0006 a0002c0002t0002	a0001c0001t0005g0047 a0001c0001t0006g0059 a0002c0002t0002g0164 others(1): Show a0001c0001t0005g0047 a0001c0001t0006g0059 a0002c0002t0002g0164 a0002c0002t0002g0165	4	42	0.0952	39	c.-38 others(50): Show c.-3878_-3877insTATATATATATATATATATATATATATATATTTT TTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	39	0.0256	39	c.-38 others(50): Show c.-3878_-3877insTATATATATATATATATATATATATTTTTTTTTT TTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	39	0.0256	39	c.-38 others(50): Show c.-3878_-3877insTATATATATATATATATATATATTTTTTTTTTTT TTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196208	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0023 a0001c0001t0007g0023	1	266	0.0038	39	c.-38 others(50): Show c.-3877_-3876insATATATATATATATATATATATATATATATATAT ATATA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3766		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316431	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03130.hp2 NA18993.hp1 HG00558.hp1 HG03130.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0161 a0001c0001t0006g0050 a0001c0001t0006g0058 a0001c0001t0004g0161 a0001c0001t0006g0050 a0001c0001t0006g0058	3	233	0.0129	39	c.106 others(58): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TATATATATATAT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14						chr13	TogoVar
B3GNT3_chr19_17790138_17818576	17809029	T T	TCACCCTG others(32): Show TCACCCTGTTGGCCAGGGTAATCTCGAACTCCTGACCTCA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0202 a0001c0001t0021g0202	1	404	0.0025	39	c.567 others(54): Show c.567+656_567+694dupCACCCTGTTGGCCAGGGTAATCTCGAACTC CTGACCTCA		B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82971582	T T	TAGGGGCC others(32): Show TAGGGGCCAGAAGGACCCGGTACTGACCACACCACACCAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03516.hp2 HG01981.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0039 a0001c0012t0001 a0001c0001t0039 a0001c0012t0001	a0001c0001t0039g0259 a0001c0012t0001g0081 a0001c0001t0039g0259 a0001c0012t0001g0081	2	165	0.0121	39	c.460 others(56): Show c.460-5875_460-5837dupGTGGTGTGGTGTGGTCAGTACCGGGTCC TTCTGGCCCCT		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar

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