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
ACACB_chr12_109111587_109273226	109167654	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0001 a0001c0050t0001	a0001c0050t0001g0274 a0001c0050t0001g0274	1	302	0.0033	21	c.787 others(36): Show c.787-242_787-241insATATATATATATATATATATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52			chr12	TogoVar
ACAD11_chr3_132553141_132664809	132641617	G G	GGAGGAAG others(14): Show GGAGGAAGAGGAGGAGGAAGAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03195.hp1 NA20300.hp2 HG02559.hp2 HG03195.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0291 a0001c0001t0001g0018 a0001c0001t0001g0291	3	297	0.0101	21	c.537 others(36): Show c.537+354_537+355insTTCTTCCTCCTCCTCTTCCTC	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	4/19			chr3	TogoVar
ACAD11_chr3_132553141_132664809	132641638	A A	AGAGGAAG others(14): Show AGAGGAAGAAGAGGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	299	0.0033	21	c.537 others(36): Show c.537+333_537+334insCTCTTCTTCCTCTTCTTCCTC	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	4/19			chr3	TogoVar
ACADM_chr1_75719709_75768679	75753795	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	86	0.0116	21	c.945 others(38): Show c.945+3268_945+3269insTTTTTTTTTTTTTTTTTTTTT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACAN_chr15_88798436_88880353	88844368	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19005.hp2 NA18980.hp2 NA19005.hp2	a0041 a0041	a0041c0053 a0041c0053	a0041c0053t0001 a0041c0053t0001	a0041c0053t0001g0042 a0041c0053t0001g0050 a0041c0053t0001g0042 a0041c0053t0001g0050	2	356	0.0056	21	c.105 others(38): Show c.1051+740_1051+741insATTATTATTATTATTATTATT	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAP2_chr3_195269745_195448020	195294631	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0026 a0001c0002t0004g0026	1	289	0.0035	21	c.176 others(36): Show c.1765+87_1765+88insATATATATATATATATATATA	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	18/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195372987	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03130.hp2 HG02109.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0088 a0001c0001t0011g0099 a0001c0001t0011g0088 a0001c0001t0011g0099	2	172	0.0116	21	c.285 others(38): Show c.285+8001_285+8021dupTTTTTTTTTTTTTTTTTTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	4/22			chr3	TogoVar
ACAP3_chr1_1287391_1312930	1289525	T T	TCCCCGTG others(14): Show TCCCCGTGTCTCTGCTCCATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0134 a0001c0003t0002g0134	1	269	0.0037	21	c.40 others(32): Show c.4038_*4039insGAATGGAGCAGAGACACGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2865		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289803	T T	TCCCCCGT others(14): Show TCCCCCGTGTCTCTGCTCCGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0167 a0001c0001t0012g0167	1	279	0.0036	21	c.37 others(32): Show c.3760_*3761insGACGGAGCAGAGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2587		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290605	C C	CGTGGCAG others(14): Show CGTGGCAGGTGACACCCGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0167 a0001c0001t0012g0167	1	294	0.0034	21	c.29 others(32): Show c.2938_*2958dupCAGCCGGGTGTCACCTGCCAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		1785		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1293748	G G	GCCCCGCC others(14): Show GCCCCGCCCCTGCCCTGGAGGC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	294	0.0034	21	c.236 others(36): Show c.2360+54_2361-41dupGCCTCCAGGGCAGGGGCGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	23/23			chr1	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01175.hp2 others(24): Show HG00099.hp2 HG00140.hp1 HG01175.hp2 HG01256.hp2 HG01346.hp2 HG01975.hp2 HG02074.hp1 HG02257.hp1 HG03704.hp1 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18964.hp1 NA18983.hp1 NA18988.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19078.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA20129.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0066 a0001c0001t0001g0091 a0002c0002t0002g0005 others(19): Show a0001c0001t0001g0066 a0001c0001t0001g0091 a0002c0002t0002g0005 a0002c0002t0002g0027 a0002c0002t0002g0029 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0220 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0296 a0002c0002t0002g0301 a0002c0002t0002g0305 a0002c0002t0002g0332 a0002c0002t0002g0333	27	39	0.6923	21	c.73- others(34): Show c.73-535_73-534insTTTTTTTTTTTTTTTTTTTTT	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACBD3_chr1_226139679_226191741	226172155	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03704.hp2 HG03927.hp1 others(5): Show HG02015.hp2 HG03704.hp2 HG03927.hp1 NA18940.hp1 NA18968.hp1 NA18970.hp1 NA19085.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0027 a0001c0001t0001g0341 a0001c0001t0001g0342 others(4): Show a0001c0001t0001g0027 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0348 a0001c0001t0001g0351 a0001c0001t0007g0340 a0001c0001t0007g0350	8	78	0.1026	21	c.287 others(38): Show c.287-6156_287-6155insTTTTTTTTTTTTTTTTTTTTT	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	1/7			chr1	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0275 a0001c0002t0001g0275	1	251	0.0040	21	c.375 others(38): Show c.375+2932_375+2933insAAAAATATATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01071.hp1 HG01243.hp1 others(3): Show HG00099.hp2 HG01071.hp1 HG01243.hp1 HG01928.hp1 HG02083.hp2 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0211 others(2): Show a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0211 a0001c0002t0001g0225 a0001c0002t0001g0271	6	256	0.0234	21	c.375 others(38): Show c.375+2932_375+2933insAAAAAAAAATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00099.hp1 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0227 a0001c0001t0009g0228 a0001c0001t0009g0227 a0001c0001t0009g0228	2	252	0.0079	21	c.375 others(38): Show c.375+2932_375+2933insAAAAAAAAAAAAATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD6_chr1_180283230_180507577	180323865	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0329 a0001c0001t0002g0329	1	324	0.0031	21	c.664 others(38): Show c.664-9164_664-9144dupAAAAAAAAAAAAAAAAAAAAA	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	6/7			chr1	TogoVar
ACE2_chrX_15556033_15605960	15601481	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	109	0.0092	21	c.-59 others(30): Show c.-591_-571dupAAAAAAAAAAAAAAAAAAAAA	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding		522		chrX	TogoVar
ACER3_chr11_76855918_77031797	76862931	C C	CAAGGTTT others(14): Show CAAGGTTTTGGATTCAAATCAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(169): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(67): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0089 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0005t0047 a0001c0005t0153 a0001c0007t0064	a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0140 others(169): Show a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0048 a0001c0001t0003g0052 a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0003g0072 a0001c0001t0003g0085 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0004g0031 a0001c0001t0004g0040 a0001c0001t0004g0043 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0058 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0078 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0005g0130 a0001c0001t0005g0150 a0001c0001t0005g0157 a0001c0001t0005g0165 a0001c0001t0005g0167 a0001c0001t0005g0178 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0190 a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0007g0171 a0001c0001t0007g0185 a0001c0001t0008g0037 a0001c0001t0008g0055 a0001c0001t0008g0059 a0001c0001t0008g0062 a0001c0001t0008g0083 a0001c0001t0008g0091 a0001c0001t0012g0133 a0001c0001t0012g0134 a0001c0001t0012g0143 a0001c0001t0012g0149 a0001c0001t0012g0177 a0001c0001t0013g0016 a0001c0001t0013g0019 a0001c0001t0013g0136 a0001c0001t0013g0137 a0001c0001t0013g0159 a0001c0001t0014g0199 a0001c0001t0014g0205 a0001c0001t0014g0206 a0001c0001t0014g0209 a0001c0001t0014g0210 a0001c0001t0017g0195 a0001c0001t0017g0196 a0001c0001t0017g0197 a0001c0001t0017g0198 a0001c0001t0018g0038 a0001c0001t0018g0045 a0001c0001t0018g0084 a0001c0001t0018g0094 a0001c0001t0022g0077 a0001c0001t0022g0079 a0001c0001t0022g0081 a0001c0001t0023g0063 a0001c0001t0023g0064 a0001c0001t0023g0095 a0001c0001t0028g0100 a0001c0001t0028g0186 a0001c0001t0029g0202 a0001c0001t0029g0203 a0001c0001t0030g0015 a0001c0001t0030g0027 a0001c0001t0031g0034 a0001c0001t0031g0044 a0001c0001t0032g0065 a0001c0001t0032g0067 a0001c0001t0033g0024 a0001c0001t0033g0056 a0001c0001t0034g0092 a0001c0001t0034g0098 a0001c0001t0035g0069 a0001c0001t0035g0070 a0001c0001t0036g0022 a0001c0001t0036g0039 a0001c0001t0037g0099 a0001c0001t0037g0128 a0001c0001t0038g0046 a0001c0001t0038g0093 a0001c0001t0048g0189 a0001c0001t0049g0163 a0001c0001t0050g0132 a0001c0001t0051g0145 a0001c0001t0052g0138 a0001c0001t0053g0182 a0001c0001t0054g0172 a0001c0001t0055g0141 a0001c0001t0056g0160 a0001c0001t0057g0329 a0001c0001t0058g0188 a0001c0001t0059g0139 a0001c0001t0060g0170 a0001c0001t0061g0187 a0001c0001t0062g0036 a0001c0001t0063g0166 a0001c0001t0065g0080 a0001c0001t0066g0018 a0001c0001t0067g0060 a0001c0001t0068g0025 a0001c0001t0069g0075 a0001c0001t0070g0201 a0001c0001t0071g0158 a0001c0001t0072g0087 a0001c0001t0073g0207 a0001c0001t0074g0129 a0001c0001t0075g0200 a0001c0001t0076g0047 a0001c0001t0077g0049 a0001c0001t0078g0066 a0001c0001t0079g0035 a0001c0001t0080g0086 a0001c0001t0081g0017 a0001c0001t0082g0050 a0001c0001t0083g0051 a0001c0001t0084g0026 a0001c0001t0085g0028 a0001c0001t0086g0208 a0001c0001t0087g0071 a0001c0001t0089g0127 a0001c0001t0092g0076 a0001c0001t0093g0088 a0001c0001t0094g0082 a0001c0005t0047g0005 a0001c0005t0153g0204 a0001c0007t0064g0126	172	344	0.5000	21	c.103 others(38): Show c.103+1855_103+1856insGTTTTGGATTCAAATCAAAAG	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACIN1_chr14_23053564_23100136	23061971	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp1 HG06807.hp2 HG02818.hp2 HG02886.hp1 HG06807.hp2	a0001 a0005 a0001 a0005	a0001c0007 a0005c0014 a0001c0007 a0005c0014	a0001c0007t0002 a0005c0014t0002 a0001c0007t0002 a0005c0014t0002	a0001c0007t0002g0234 a0001c0007t0002g0238 a0005c0014t0002g0211 a0001c0007t0002g0234 a0001c0007t0002g0238 a0005c0014t0002g0211	3	196	0.0153	21	c.309 others(38): Show c.3099+176_3099+196dupTTTTTTTTTTTTTTTTTTTTT	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	16/18			chr14	TogoVar
ACKR2_chr3_42804445_42872286	42828092	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0022 a0002c0003t0005g0022	1	178	0.0056	21	c.-38 others(38): Show c.-38+8382_-38+8383insATATATATATTTTTTTTTTTT	ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACLY_chr17_41861918_41923951	41879647	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	12	0.0833	21	c.226 others(38): Show c.2266-744_2266-724dupTTTTTTTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41900069	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18964.hp2 NA18968.hp2 others(2): Show HG02698.hp2 NA18964.hp2 NA18968.hp2 NA19081.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0008 a0002c0002t0003 a0002c0002t0008	a0002c0002t0003g0260 a0002c0002t0003g0276 a0002c0002t0003g0277 others(2): Show a0002c0002t0003g0260 a0002c0002t0003g0276 a0002c0002t0003g0277 a0002c0002t0003g0278 a0002c0002t0008g0267	5	26	0.1923	21	c.118 others(40): Show c.1184-1305_1184-1285dupTTTTTTTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	11/28			chr17	TogoVar
ACMSD_chr2_134833616_134907034	134835338	G G	GGTAGTAG others(14): Show GGTAGTAGTAGTAGTAGTAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	289	0.0035	21	c.-33 others(32): Show c.-3345_-3344insGTAGTAGTAGTAGTAGTAGTA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3277		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134840167	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01993.hp1 HG02080.hp1 HG01261.hp2 HG01993.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032	3	145	0.0207	21	c.57+ others(36): Show c.57+1434_57+1454dupAAAAAAAAAAAAAAAAAAAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOD1_chr13_76943511_76963638	76944257	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG02071.hp1 HG02155.hp2 others(2): Show HG01975.hp2 HG02071.hp1 HG02155.hp2 NA18967.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0008 a0001c0002t0001g0005 a0001c0001t0001g0008 a0001c0002t0001g0005	5	99	0.0505	21	c.-43 others(32): Show c.-4302_-4301insAAAAAAAAAAAAAAAAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOT2_chr14_73564213_73580655	73576816	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01258.hp1 HG01255.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	56	0.0357	21	c.13 others(32): Show c.1303_*1304insAAAAAAAAAAAAAAAAAAAAG	ACOT2	ENSG00000119673.16	transcript	ENST00000238651.10	protein_coding		1162		chr14	TogoVar
ACOT7_chr1_6259272_6398767	6276630	G G	GGCACATC others(14): Show GGCACATCTGGAGGGACGGAAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18977.hp1 NA19090.hp1 NA18950.hp2 NA18977.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0008 a0001c0001t0014	a0001c0001t0008g0004 a0001c0001t0008g0005 a0001c0001t0014g0087 a0001c0001t0008g0004 a0001c0001t0008g0005 a0001c0001t0014g0087	3	238	0.0126	21	c.101 others(40): Show c.1014+4451_1014+4471dupGTTCCGTCCCTCCAGATGTGC	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	8/8			chr1	TogoVar
ACOX1_chr17_75936507_75984166	75968435	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp1 HG02976.hp1 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0008 a0002c0002t0023 a0001c0004t0008 a0002c0002t0023	a0001c0004t0008g0137 a0002c0002t0023g0170 a0001c0004t0008g0137 a0002c0002t0023g0170	2	156	0.0128	21	c.270 others(38): Show c.270-8061_270-8060insTTTTTTTTTTTTTTTTTTTTT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75968435	C C	CACAAAAA others(14): Show CACAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19043.hp1 HG02818.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0017 a0001c0001t0002 a0003c0005t0017	a0001c0001t0002g0055 a0003c0005t0017g0049 a0001c0001t0002g0055 a0003c0005t0017g0049	2	156	0.0128	21	c.270 others(38): Show c.270-8061_270-8060insTTTTTTTTTTTTTTTTTTTGT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75970184	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	154	0.0065	21	c.269 others(38): Show c.269+8349_269+8350insTTTTTTTTTTTTTTTTTTTTT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACP2_chr11_47234302_47253814	47253134	C C	CGGTGTGT others(14): Show CGGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0008 a0001c0003t0003g0008	1	160	0.0063	21	c.-43 others(32): Show c.-4346_-4345insACACACACACACACACACACC	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding		4321		chr11	TogoVar
ACP5_chr19_11569660_11582645	11576006	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01168.hp1 HG02015.hp1 others(10): Show HG00323.hp2 HG01168.hp1 HG02015.hp1 HG02451.hp2 HG02735.hp1 HG02976.hp1 HG03017.hp1 HG03942.hp1 HG03942.hp2 NA18960.hp2 NA18963.hp2 NA19001.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0004t0001g0043 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0004t0001g0043	13	230	0.0565	21	c.735 others(36): Show c.735+236_735+237insTTTTTTTTTTTTTTTTTTTTT	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	4/4			chr19	TogoVar
ACRV1_chr11_125666522_125685847	125678974	C C	CATTATAT others(14): Show CATTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp1 HG03540.hp2 HG02145.hp2 HG03195.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0019 a0002c0002t0003g0019	3	410	0.0073	21	c.53- others(34): Show c.53-678_53-677insATATATATATATATATATAAT	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	1/3			chr11	TogoVar
ACRV1_chr11_125666522_125685847	125679216	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	209	0.0048	21	c.53- others(34): Show c.53-920_53-919insAAAAAAAAAAAAAAAAAAAAA	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	1/3			chr11	TogoVar
ACSBG2_chr19_6130667_6198091	6197813	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA19066.hp2 NA18975.hp2 NA19066.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0198 a0003c0005t0001g0242 a0003c0005t0001g0198 a0003c0005t0001g0242	2	229	0.0087	21	c.51 others(32): Show c.5181_*5182insTTTTTTTTTTTTTTTTTTTTT	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding		4723		chr19	TogoVar
ACSL5_chr10_112369116_112433376	112423219	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19001.hp2 NA19005.hp1 NA18612.hp1 NA19001.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0207 a0001c0001t0001g0228 a0001c0001t0001g0010 a0001c0001t0001g0207 a0001c0001t0001g0228	3	150	0.0200	21	c.159 others(38): Show c.1593+778_1593+779insTATATATATATATATATATAT	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20			chr10	TogoVar
ACSM2A_chr16_20446521_20492669	20483577	A A	AAAACCAA others(14): Show AAAACCAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0013 a0013	a0013c0030 a0013c0030	a0013c0030t0031 a0013c0030t0031	a0013c0030t0031g0109 a0013c0030t0031g0109	1	434	0.0023	21	c.162 others(38): Show c.1629+403_1629+404insCCAAACAAACAAACAAACAAA	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20431945	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02080.hp1 HG02630.hp2 others(14): Show HG00408.hp2 HG02080.hp1 HG02630.hp2 HG02698.hp1 HG02738.hp1 HG04184.hp2 HG04228.hp2 NA18947.hp2 NA18950.hp1 NA18957.hp2 NA18971.hp2 NA18981.hp1 NA18988.hp1 NA18992.hp2 NA18998.hp1 NA19012.hp2 NA19090.hp2	a0003 a0006 a0012 others(1): Show a0003 a0006 a0012 a0024	a0003c0003 a0006c0005 a0012c0040 others(1): Show a0003c0003 a0006c0005 a0012c0040 a0024c0036	a0003c0003t0003 a0006c0005t0003 a0006c0005t0009 others(2): Show a0003c0003t0003 a0006c0005t0003 a0006c0005t0009 a0012c0040t0003 a0024c0036t0013	a0003c0003t0003g0002 a0003c0003t0003g0031 a0003c0003t0003g0035 others(13): Show a0003c0003t0003g0002 a0003c0003t0003g0031 a0003c0003t0003g0035 a0003c0003t0003g0089 a0003c0003t0003g0095 a0003c0003t0003g0102 a0003c0003t0003g0104 a0003c0003t0003g0133 a0003c0003t0003g0141 a0003c0003t0003g0188 a0003c0003t0003g0225 a0006c0005t0003g0224 a0006c0005t0009g0301 a0006c0005t0009g0302 a0012c0040t0003g0149 a0024c0036t0013g0262	17	388	0.0438	21	c.130 others(38): Show c.1308+626_1308+627insTAATAATAATAATAATAATAA	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACTA2_chr10_88930074_88957773	88932032	G G	GATTATTA others(14): Show GATTATTATTATTATTATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02647.hp2 HG02630.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0022 a0001c0001t0001g0025	2	159	0.0126	21	c.31 others(32): Show c.3170_*3190dupAATAATAATAATAATAATAAT	ACTA2	ENSG00000107796.13	transcript	ENST00000224784.10	protein_coding		3041		chr10	TogoVar
ACTL6B_chr7_100638097_100661448	100641542	C C	CCCCCAGC others(14): Show CCCCCAGCGATAAACCGATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	358	0.0028	21	c.16 others(32): Show c.1683_*1703dupTTTATCGGTTTATCGCTGGGG	ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding		1554		chr7	TogoVar
ACTN1_chr14_68869128_68984302	68881955	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	103	0.0097	21	c.195 others(38): Show c.1953+502_1953+503insTCAAAAAAAAAAAAAAAAAAA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN4_chr19_38642649_38736589	38728410	G G	GCTCCTCC others(14): Show GCTCCTCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	179	0.0056	21	c.241 others(38): Show c.2418+404_2418+424dupTCCTCCTCCTCCTCCTCCTCC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38736455	C C	CCCCCAGG others(14): Show CCCCCAGGGCAGGTTGACCAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0243 a0001c0004t0005g0243	1	305	0.0033	21	c.70 others(32): Show c.7023_*7024insCCCCAGGGCAGGTTGACCAAG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4867		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38736460	A A	AGGGCAGG others(14): Show AGGGCAGGTTGACCAAGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03710.hp1 HG03017.hp1 HG03710.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0234 a0001c0004t0001g0235 a0001c0004t0001g0234 a0001c0004t0001g0235	2	312	0.0064	21	c.70 others(32): Show c.7028_*7029insGGGCAGGTTGACCAAGCCCCG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4872		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38736467	T T	TTTGACCA others(14): Show TTTGACCAAGCCCCAGGGCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01071.hp2 HG01978.hp1 others(13): Show HG00735.hp2 HG01071.hp2 HG01978.hp1 HG02055.hp1 HG02273.hp2 HG02293.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02976.hp2 HG03041.hp2 HG03490.hp2 HG03927.hp1 HG03942.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0013 others(2): Show a0001c0001 a0001c0003 a0001c0013 a0001c0014 a0003c0009	a0001c0001t0001 a0001c0001t0009 a0001c0003t0004 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0004 a0001c0003t0008 a0001c0013t0004 a0001c0014t0004 a0003c0009t0002	a0001c0001t0001g0170 a0001c0001t0001g0205 a0001c0001t0009g0079 others(13): Show a0001c0001t0001g0170 a0001c0001t0001g0205 a0001c0001t0009g0079 a0001c0001t0009g0083 a0001c0001t0009g0211 a0001c0003t0004g0095 a0001c0003t0004g0178 a0001c0003t0004g0188 a0001c0003t0004g0194 a0001c0003t0004g0195 a0001c0003t0008g0182 a0001c0003t0008g0183 a0001c0003t0008g0192 a0001c0013t0004g0187 a0001c0014t0004g0193 a0003c0009t0002g0207	16	142	0.1127	21	c.70 others(32): Show c.7035_*7036insTTGACCAAGCCCCAGGGCAGG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4879		chr19	TogoVar
ACTR1A_chr10_102474229_102507712	102493001	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG06807.hp2 HG03453.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0228 a0001c0001t0003g0229	2	7	0.2857	21	c.49- others(36): Show c.49-2409_49-2389dupTTTTTTTTTTTTTTTTTTTTT	ACTR1A	ENSG00000138107.13	transcript	ENST00000369905.9	protein_coding	1/10			chr10	TogoVar
ACTR3B_chr7_152754752_152860378	152785428	A A	AGAGAGGG others(14): Show AGAGAGGGGGAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	308	0.0032	21	c.100 others(38): Show c.100+2196_100+2216dupAGGGGGAGGGGGGAGAGGGGG	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150248659	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0133 a0002c0002t0004g0133	1	208	0.0048	21	c.38 others(36): Show c.38+288_*38+289insTTTTTTTTTTTTTTTTTTTTT	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	7/7			chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150250202	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0002c0002t0001g0123 a0001c0001t0001g0003 a0002c0002t0001g0123	3	223	0.0135	21	c.565 others(38): Show c.565-1149_565-1148insAAAAAAAAAAAAAAAAAAAAA	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/7			chr7	TogoVar

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