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
ATP11C_chrX_139721348_139938053	139769281	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01928.hp1 HG01978.hp1 others(2): Show HG01109.hp1 HG01928.hp1 HG01978.hp1 NA18946.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0002g0178 others(2): Show a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0004g0207	5	36	0.1389	18	c.221 others(35): Show c.2217-865_2217-848dupATATATATATATATATAT	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	19/29			chrX	TogoVar
ATP11C_chrX_139721348_139938053	139803685	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG06807.hp2 HG03453.hp1 HG06807.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0005 a0003c0004t0008g0007 a0003c0004t0008g0005 a0003c0004t0008g0007	2	35	0.0571	18	c.555 others(33): Show c.555+768_555+785dupAAAAAAAAAAAAAAAAAA	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	6/29			chrX	TogoVar
ATP11C_chrX_139721348_139938053	139866343	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18967.hp1 HG00597.hp2 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0012 a0002c0002t0002 a0002c0002t0012	a0002c0002t0002g0053 a0002c0002t0012g0001 a0002c0002t0002g0053 a0002c0002t0012g0001	2	90	0.0222	18	c.28- others(35): Show c.28-39538_28-39521dupTTTTTTTTTTTTTTTTTT	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	1/29			chrX	TogoVar
ATP12A_chr13_24675408_24717472	24682361	A A	ATGTGTGG others(11): Show ATGTGTGGTGTGTGGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0240 a0001c0005t0001g0240	1	380	0.0026	18	c.168 others(33): Show c.168+663_168+680dupGTGGTGTGTGGTGTGTGT	ATP12A	ENSG00000075673.12	transcript	ENST00000381946.5	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A2_chr1_16980958_17016928	16994197	C C	CTCTCTCT others(11): Show CTCTCTCTCTCATTTATTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp2 NA18959.hp2 others(4): Show NA18948.hp1 NA18948.hp2 NA18959.hp2 NA18969.hp2 NA18979.hp2 NA18987.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0175 a0001c0001t0001g0185 others(4): Show a0001c0001t0001g0159 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0211 a0001c0001t0001g0216	7	241	0.0290	18	c.154 others(35): Show c.1543-363_1543-362insAAATAAATGAGAGAGAGA	ATP13A2	ENSG00000159363.19	transcript	ENST00000326735.13	protein_coding	15/28			chr1	TogoVar
ATP13A3_chr3_194397677_194492002	194417396	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	25	0.0400	18	c.340 others(37): Show c.3402+2465_3402+2482dupGTGTGTGTGTGTGTGTGT	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	31/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194468386	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19240.hp2 HG02809.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0183 a0001c0001t0007g0185 a0001c0001t0007g0183 a0001c0001t0007g0185	2	208	0.0096	18	c.-46 others(35): Show c.-46-6168_-46-6151dupTTTTTTTTTTTTTTTTTT	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	2/33			chr3	TogoVar
ATP13A4_chr3_193393967_193559895	193504020	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02165.hp2 NA18975.hp2 HG02132.hp2 HG02165.hp2 NA18975.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0001 a0003c0005t0001 a0003c0005t0006 a0002c0002t0001 a0003c0005t0001 a0003c0005t0006	a0002c0002t0001g0279 a0003c0005t0001g0290 a0003c0005t0006g0292 a0002c0002t0001g0279 a0003c0005t0001g0290 a0003c0005t0006g0292	3	164	0.0183	18	c.235 others(35): Show c.235-1382_235-1381insTCACACACACACACACAC	ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	2/29			chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193270069	A A	AATACACA others(11): Show AATACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0019 a0005c0005t0001g0019	1	43	0.0233	18	c.49 others(29): Show c.4972_*4973insGTGTGTGTGTGTGTGTAT	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding		4719		chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193368392	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01891.hp1 HG01934.hp1 others(1): Show HG01074.hp2 HG01891.hp1 HG01934.hp1 HG02818.hp1	a0001 a0016 a0001 a0016	a0001c0015 a0016c0021 a0001c0015 a0016c0021	a0001c0015t0002 a0016c0021t0002 a0001c0015t0002 a0016c0021t0002	a0001c0015t0002g0239 a0001c0015t0002g0240 a0001c0015t0002g0241 others(1): Show a0001c0015t0002g0239 a0001c0015t0002g0240 a0001c0015t0002g0241 a0016c0021t0002g0263	4	17	0.2353	18	c.64- others(33): Show c.64-4130_64-4113dupCACACACACACACACACA	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	1/29			chr3	TogoVar
ATP1A4_chr1_160146603_160191980	160186086	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18994.hp2 HG00408.hp1 NA18994.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0005t0003 a0001c0004t0001 a0001c0005t0003	a0001c0004t0001g0316 a0001c0005t0003g0240 a0001c0004t0001g0316 a0001c0005t0003g0240	2	97	0.0206	18	c.297 others(35): Show c.2970-185_2970-168dupAAAAAAAAAAAAAAAAAA	ATP1A4	ENSG00000132681.17	transcript	ENST00000368081.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	106	0.0094	18	c.-23 others(29): Show c.-2364_-2363insAAAAAAATATATATATAT	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		2204		chr3	TogoVar
ATP23_chr12_57936567_57964148	57941434	G G	GCGCCCCG others(11): Show GCGCCCCGCCCCATGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02717.hp2 others(5): Show HG01109.hp2 HG01884.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0015 a0001c0004t0003g0026 a0001c0004t0003g0047 others(1): Show a0001c0004t0003g0015 a0001c0004t0003g0026 a0001c0004t0003g0047 a0001c0004t0003g0104	8	392	0.0204	18	c.-26 others(27): Show c.-268_-267insCGCCCCGCCCCATGCCCT	ATP23	ENSG00000166896.9	transcript	ENST00000300145.4	protein_coding		132		chr12	TogoVar
ATP23_chr12_57936567_57964148	57941447	T T	TGCCCTCG others(11): Show TGCCCTCGCCCCGCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03195.hp1 HG02922.hp2 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0033 a0001c0004t0012g0033	2	392	0.0051	18	c.-25 others(27): Show c.-255_-254insGCCCTCGCCCCGCCCCTC	ATP23	ENSG00000166896.9	transcript	ENST00000300145.4	protein_coding		119		chr12	TogoVar
ATP2A3_chr17_3918873_3969437	3965849	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG02683.hp1 HG03239.hp2 others(1): Show HG01346.hp2 HG02683.hp1 HG03239.hp2 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0009 a0001c0004 a0001c0005 a0001c0009	a0001c0004t0031 a0001c0005t0002 a0001c0005t0004 others(1): Show a0001c0004t0031 a0001c0005t0002 a0001c0005t0004 a0001c0009t0001	a0001c0004t0031g0071 a0001c0005t0002g0002 a0001c0005t0004g0109 others(1): Show a0001c0004t0031g0071 a0001c0005t0002g0002 a0001c0005t0004g0109 a0001c0009t0001g0097	4	212	0.0189	18	c.-15 others(29): Show c.-1559_-1558insTAATAATAATAATAATAA	ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding		1413		chr17	TogoVar
ATP2B1_chr12_89583049_89713838	89643065	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	154	0.0065	18	c.209 others(33): Show c.209-728_209-711dupGTGTGTGTGTGTGTGTGT	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	2/20			chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89658598	G G	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01978.hp2 HG02155.hp2 others(4): Show HG01346.hp1 HG01978.hp2 HG02155.hp2 HG04199.hp1 NA18942.hp1 NA18943.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0001t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0237 others(4): Show a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0237 a0001c0001t0001g0278 a0001c0001t0001g0291 a0001c0001t0006g0282 a0001c0002t0001g0137	7	52	0.1346	18	c.-22 others(37): Show c.-221-2509_-221-2492dupTCTCTCTCTCTCTCTCTC	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20			chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89658641	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0208 a0004c0008t0001g0208	1	328	0.0030	18	c.-22 others(37): Show c.-221-2535_-221-2534insATCTCTCTCTCTCTCTCT	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20			chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89677954	T T	TTATATAT others(11): Show TTATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02559.hp1 NA19084.hp2 others(1): Show HG01167.hp1 HG02559.hp1 NA19084.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0020 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0020 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0069 a0001c0001t0020g0048 a0001c0002t0001g0114 others(1): Show a0001c0001t0001g0069 a0001c0001t0020g0048 a0001c0002t0001g0114 a0001c0004t0001g0031	4	168	0.0238	18	c.-22 others(39): Show c.-221-21848_-221-21847insTATACATATATATATATA	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20			chr12	TogoVar
ATP2B4_chr1_203621832_203749081	203686685	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG02004.hp1 others(2): Show HG01099.hp2 HG01106.hp2 HG02004.hp1 HG03579.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0004t0049	a0001c0001t0002g0153 a0001c0001t0004g0215 a0001c0001t0004g0305 others(2): Show a0001c0001t0002g0153 a0001c0001t0004g0215 a0001c0001t0004g0305 a0001c0001t0005g0088 a0001c0004t0049g0269	5	37	0.1351	18	c.193 others(35): Show c.193+3296_193+3313dupTTTTTTTTTTTTTTTTTT	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2B4_chr1_203621832_203749081	203719225	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0151 a0001c0001t0022g0151	1	277	0.0036	18	c.240 others(37): Show c.2407-1321_2407-1304dupAAAAAAAAAAAAAAAAAA	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2B4_chr1_203621832_203749081	203744827	T T	TACACACA others(11): Show TACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG03041.hp1 HG03041.hp2 HG02055.hp1 HG03041.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0014 a0001c0001t0024 a0001c0019t0014 a0001c0001t0014 a0001c0001t0024 a0001c0019t0014	a0001c0001t0014g0249 a0001c0001t0024g0098 a0001c0019t0014g0314 a0001c0001t0014g0249 a0001c0001t0024g0098 a0001c0019t0014g0314	3	211	0.0142	18	c.49 others(29): Show c.4973_*4974insACACACACACACACACAC	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding		747		chr1	TogoVar
ATP2C1_chr3_130889084_131008150	130941252	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	333	0.0030	18	c.423 others(33): Show c.423-326_423-325insGTGTCTGTGTGTGTGTGT	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C1_chr3_130889084_131008150	130970369	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	71	0.0141	18	c.141 others(36): Show c.1413+994_1413+1011dupACACACACACACACACAC	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	17/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C2_chr16_84363538_84469187	84383735	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03579.hp1 HG01243.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0001 a0002c0004t0001 a0001c0005t0001 a0002c0004t0001	a0001c0005t0001g0067 a0002c0004t0001g0068 a0001c0005t0001g0067 a0002c0004t0001g0068	2	377	0.0053	18	c.100 others(37): Show c.100-14749_100-14748insGTGTGTGTGTGTGTGTGT	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84397655	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00735.hp2 HG01081.hp1 others(19): Show HG00408.hp2 HG00735.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01433.hp1 HG02165.hp1 HG02273.hp1 HG02735.hp2 NA18948.hp1 NA19054.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19083.hp1 NA19086.hp1 NA19087.hp1 NA19240.hp1 NA20805.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0025	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0022 a0001c0028 a0002c0004 a0002c0006 a0002c0007 a0002c0023 a0010c0024 a0025c0061	a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 others(12): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0009t0001 a0001c0022t0002 a0001c0028t0001 a0002c0004t0002 a0002c0004t0003 a0002c0006t0001 a0002c0006t0013 a0002c0007t0001 a0002c0023t0001 a0010c0024t0001 a0025c0061t0001	a0001c0001t0002g0308 a0001c0001t0002g0333 a0001c0001t0002g0361 others(19): Show a0001c0001t0002g0308 a0001c0001t0002g0333 a0001c0001t0002g0361 a0001c0002t0002g0237 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0032 a0001c0005t0001g0317 a0001c0005t0001g0352 a0001c0009t0001g0126 a0001c0022t0002g0393 a0001c0028t0001g0004 a0002c0004t0002g0331 a0002c0004t0003g0320 a0002c0006t0001g0298 a0002c0006t0013g0167 a0002c0007t0001g0305 a0002c0007t0001g0315 a0002c0023t0001g0307 a0002c0023t0001g0381 a0010c0024t0001g0025 a0025c0061t0001g0115	22	41	0.5366	18	c.100 others(33): Show c.100-843_100-826dupAAAAAAAAAAAAAAAAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84397669	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0371 a0001c0001t0002g0371	1	430	0.0023	18	c.100 others(33): Show c.100-826_100-825insAAAAAAAAAAAAACAAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84397670	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03492.hp2 HG02738.hp2 HG03492.hp2	a0002 a0002	a0002c0006 a0002c0008 a0002c0006 a0002c0008	a0002c0006t0001 a0002c0008t0001 a0002c0006t0001 a0002c0008t0001	a0002c0006t0001g0026 a0002c0008t0001g0030 a0002c0006t0001g0026 a0002c0008t0001g0030	2	427	0.0047	18	c.100 others(33): Show c.100-826_100-825insAAAAAAAAAAAAAACAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84424576	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp1 HG02145.hp1 HG02970.hp1	a0002 a0004 a0002 a0004	a0002c0007 a0004c0013 a0002c0007 a0004c0013	a0002c0007t0001 a0004c0013t0001 a0002c0007t0001 a0004c0013t0001	a0002c0007t0001g0213 a0004c0013t0001g0075 a0002c0007t0001g0213 a0004c0013t0001g0075	2	118	0.0169	18	c.920 others(35): Show c.920-1153_920-1136dupTTTTTTTTTTTTTTTTTT	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84424599	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG00735.hp1 others(11): Show HG00597.hp1 HG00621.hp2 HG00735.hp1 HG01256.hp2 HG01258.hp2 HG02056.hp1 HG02080.hp2 HG02132.hp2 HG02486.hp1 HG03239.hp1 HG03669.hp2 NA18954.hp2 NA18966.hp1 NA19091.hp2	a0001 a0014 a0018 a0001 a0014 a0018	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0014c0072 a0018c0076	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0003t0001 a0001c0005t0003 a0014c0072t0001 a0018c0076t0001	a0001c0001t0001g0334 a0001c0001t0003g0322 a0001c0001t0003g0357 others(11): Show a0001c0001t0001g0334 a0001c0001t0003g0322 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0416 a0001c0002t0002g0155 a0001c0002t0002g0282 a0001c0002t0003g0170 a0001c0002t0008g0039 a0001c0002t0008g0293 a0001c0003t0001g0171 a0001c0005t0003g0363 a0014c0072t0001g0109 a0018c0076t0001g0005	14	377	0.0371	18	c.920 others(35): Show c.920-1136_920-1135insTTTTTTTTTTTTTTTTTA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	10/26			chr16	TogoVar
ATP5F1A_chr18_46075248_46103296	46092617	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0044 a0001c0001t0035g0044	2	141	0.0142	18	c.140 others(33): Show c.140-784_140-767dupTATATATATATATATATA	ATP5F1A	ENSG00000152234.16	transcript	ENST00000398752.11	protein_coding	2/11			chr18	TogoVar
ATP5F1A_chr18_46075248_46103296	46094186	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02615.hp1 others(2): Show HG01884.hp1 HG02257.hp1 HG02615.hp1 HG03130.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0044 a0001c0001t0005 a0001c0001t0044	a0001c0001t0005g0169 a0001c0001t0005g0182 a0001c0001t0005g0183 others(2): Show a0001c0001t0005g0169 a0001c0001t0005g0182 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0044g0185	5	161	0.0311	18	c.139 others(33): Show c.139+866_139+867insATGTGTGTGTGTGTGTGT	ATP5F1A	ENSG00000152234.16	transcript	ENST00000398752.11	protein_coding	2/11			chr18	TogoVar
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 NA18991.hp2 HG04204.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	9	0.2222	18	c.32 others(29): Show c.3298_*3299insAAAAAAAAAAAAAAAAAA	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		3197		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53665751	A A	ATGGAAGA others(11): Show ATGGAAGAGGCATCCAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(348): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(161): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0002t0001g0026 a0001c0002t0001g0038 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0003t0001g0109	351	416	0.8438	18	c.312 others(33): Show c.312-324_312-323insCTCTGGATGCCTCTTCCA	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53667956	C C	CACATATA others(11): Show CACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01168.hp1 NA18941.hp2 others(5): Show HG01106.hp1 HG01168.hp1 NA18941.hp2 NA18952.hp2 NA18955.hp1 NA18979.hp1 NA18993.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0023	8	206	0.0388	18	c.311 others(35): Show c.311+1191_311+1192insATATATATATATATATGT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG01123.hp2 others(7): Show HG00099.hp1 HG01074.hp1 HG01123.hp2 HG01243.hp2 HG03139.hp1 HG03139.hp2 HG03927.hp1 NA18747.hp1 NA18959.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0074 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0074 a0001c0001t0001g0092 a0001c0001t0001g0097	10	77	0.1299	18	c.39+ others(31): Show c.39+475_39+492dupTTTTTTTTTTTTTTTTTT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53679238	C C	CGAGAGAG others(11): Show CGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA19082.hp2 NA18954.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0020 a0001c0001t0001g0023	2	43	0.0465	18	c.-32 others(29): Show c.-3218_-3217insTCTCTCTCTCTCTCTCTC	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding		3156		chr12	TogoVar
ATP5ME_chr4_667436_679276	668914	A A	ACTACCCC others(11): Show ACTACCCCACGCTATTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18979.hp2 NA19056.hp1 NA18952.hp1 NA18979.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0001 a0001c0001t0001g0020	3	389	0.0077	18	c.35 others(29): Show c.3568_*3585dupGGGAATAGCGTGGGGTAG	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3521		chr4	TogoVar
ATP5ME_chr4_667436_679276	669039	T T	TTCCCCTA others(11): Show TTCCCCTACCCCATGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	18	c.34 others(29): Show c.3460_*3461insGCAGCATGGGGTAGGGGA	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3396		chr4	TogoVar
ATP5ME_chr4_667436_679276	669324	G G	GCTACCCC others(11): Show GCTACCCCATGCTATTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	389	0.0026	18	c.31 others(29): Show c.3158_*3175dupGGGAATAGCATGGGGTAG	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3111		chr4	TogoVar
ATP5MGL_chr22_42634803_42645601	42638728	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01934.hp1 others(2): Show HG00140.hp1 HG00738.hp2 HG01934.hp1 NA18948.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0001g0000 a0001c0001t0004g0000	5	65	0.0769	18	c.12 others(29): Show c.1226_*1243dupTTTTTTTTTTTTTTTTTT	ATP5MGL	ENSG00000249222.1	transcript	ENST00000505920.1	protein_coding		1074		chr22	TogoVar
ATP5MJ_chr14_103907288_103926529	103911005	C C	CGGGGGTG others(11): Show CGGGGGTGAGGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02647.hp2 HG02723.hp1 others(2): Show HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 others(2): Show a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137	5	437	0.0114	18	c.16 others(29): Show c.1660_*1661insACCCCCCACCTCACCCCC	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding		1282		chr14	TogoVar
ATP5MJ_chr14_103907288_103926529	103914837	C C	CAAAAAGG others(11): Show CAAAAAGGAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	342	0.0029	18	c.124 others(33): Show c.124+228_124+229insTTTTTTTTTTTCCTTTTT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding	2/3			chr14	TogoVar
ATP5MJ_chr14_103907288_103926529	103914849	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01109.hp2 HG02647.hp2 others(2): Show HG00423.hp1 HG01109.hp2 HG02647.hp2 NA18946.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0156 others(2): Show a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0163	5	323	0.0155	18	c.124 others(33): Show c.124+216_124+217insCTTTTTTTTTTTTTTTTT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding	2/3			chr14	TogoVar
ATP5MJ_chr14_103907288_103926529	103914849	A A	AAGAAAAA others(11): Show AAGAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	319	0.0031	18	c.124 others(33): Show c.124+216_124+217insCTTTTTTTTTTTTTTTCT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding	2/3			chr14	TogoVar
ATP5MJ_chr14_103907288_103926529	103925043	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18991.hp2 NA18955.hp1 NA18991.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0184 a0002c0002t0001g0015 a0001c0001t0001g0184 a0002c0002t0001g0015	2	327	0.0061	18	c.-35 others(29): Show c.-3592_-3575dupAAAAAAAAAAAAAAAAAA	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding		3515		chr14	TogoVar
ATP5PB_chr1_111444464_111467773	111449216	G G	GAGACTCA others(11): Show GAGACTCAGCTCCGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	432	0.0023	18	c.-32 others(27): Show c.-326_-325insAGACTCAGCTCCGGCAGC	ATP5PB	ENSG00000116459.11	transcript	ENST00000369722.8	protein_coding		247		chr1	TogoVar
ATP5PB_chr1_111444464_111467773	111457312	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02809.hp1 others(1): Show HG02145.hp2 HG02257.hp2 HG02809.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0017 a0001c0002t0004g0017	4	262	0.0153	18	c.513 others(33): Show c.513+569_513+586dupCACACACACACACACACA	ATP5PB	ENSG00000116459.11	transcript	ENST00000369722.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP6V0A2_chr12_123707353_123766755	123712053	T T	TCACACAC others(11): Show TCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0002 a0005c0013t0002	a0005c0013t0002g0152 a0005c0013t0002g0152	1	218	0.0046	18	c.-51 others(27): Show c.-513_-512insCACACACACACACACACA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		299		chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123712055	T T	TCACACAC others(11): Show TCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01175.hp2 others(9): Show HG00735.hp1 HG01081.hp1 HG01175.hp2 HG01981.hp1 HG02451.hp1 HG02698.hp1 HG03688.hp1 HG03831.hp2 HG03927.hp1 NA18612.hp1 NA18977.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0002 a0001c0002t0036 a0002c0004t0007 a0001c0002t0002 a0001c0002t0036 a0002c0004t0007	a0001c0002t0002g0004 a0001c0002t0002g0147 a0001c0002t0002g0160 others(9): Show a0001c0002t0002g0004 a0001c0002t0002g0147 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0036g0151 a0002c0004t0007g0182	12	183	0.0656	18	c.-51 others(27): Show c.-511_-510insCACACACACACACACACA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		297		chr12	TogoVar

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