Joint Open Genome and Omics Platform (JoGo)

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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
ATG10_chr5_81967023_82261133	82088209	A A	AGTTAGCC others(14): Show AGTTAGCCCCAGAATCAGTTTC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0067 a0002c0002t0006g0067	1	224	0.0045	21	c.216 others(40): Show c.216+29608_216+29628dupGTTAGCCCCAGAATCAGTTTC		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82118400	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0184 a0004c0004t0002g0184	1	186	0.0054	21	c.217 others(40): Show c.217-45994_217-45993insATATATATATATATATTATAT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG14_chr14_55361391_55416830	55380875	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0054 a0001c0001t0005g0054	1	315	0.0032	21	c.878 others(36): Show c.878-186_878-185insAAAAAAAAATATATATATATA		ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	6/9						chr14	TogoVar
ATG14_chr14_55361391_55416830	55380876	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01346.hp2 HG01070.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0212 a0001c0001t0003g0213	2	198	0.0101	21	c.878 others(36): Show c.878-187_878-186insTATATATATATATATATATAT		ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	6/9						chr14	TogoVar
ATG14_chr14_55361391_55416830	55399184	C C	CACAATAT others(14): Show CACAATATACATTAAACAGAAA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0099 a0001c0002t0002g0099	1	364	0.0027	21	c.222 others(38): Show c.222-1771_222-1751dupTTTCTGTTTAATGTATATTGT		ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9						chr14	TogoVar
ATG14_chr14_55361391_55416830	55402926	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0127 a0001c0001t0004g0127	1	190	0.0053	21	c.222 others(38): Show c.222-5493_222-5492insATATATATATATATATATATT		ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9						chr14	TogoVar
ATG14_chr14_55361391_55416830	55402926	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03490.hp1 NA19001.hp1 HG02615.hp2 HG03490.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0016 a0001c0001t0001 a0001c0001t0007 a0001c0002t0016	a0001c0001t0001g0290 a0001c0001t0007g0190 a0001c0002t0016g0058 a0001c0001t0001g0290 a0001c0001t0007g0190 a0001c0002t0016g0058	3	192	0.0156	21	c.222 others(38): Show c.222-5493_222-5492insATATATATATATATATATATA		ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9						chr14	TogoVar
ATG4B_chr2_241632693_241678857	241642871	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18982.hp1 HG02135.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0012 a0001c0002t0002 a0001c0002t0012	a0001c0002t0002g0153 a0001c0002t0012g0135 a0001c0002t0002g0153 a0001c0002t0012g0135	2	64	0.0313	21	c.10+ others(36): Show c.10+5147_10+5148insTTTTTTTTTTTTTTTTTTTTT		ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding	1/12						chr2	TogoVar
ATG4B_chr2_241632693_241678857	241643692	T T	TCCCCCCC others(14): Show TCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19030.hp1 NA20752.hp2 HG02647.hp1 NA19030.hp1 NA20752.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0009 a0003c0004t0006 a0003c0004t0009	a0003c0004t0006g0085 a0003c0004t0009g0084 a0003c0004t0009g0099 a0003c0004t0006g0085 a0003c0004t0009g0084 a0003c0004t0009g0099	3	382	0.0079	21	c.10+ others(36): Show c.10+5968_10+5969insCCCCCCCCCCCCCCCCCCCCC		ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding	1/12						chr2	TogoVar
ATG7_chr3_11267397_11562665	11378027	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02083.hp2 HG01943.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0013 a0001c0001t0001 a0001c0002t0013	a0001c0001t0001g0104 a0001c0002t0013g0151 a0001c0001t0001g0104 a0001c0002t0013g0151	2	17	0.1176	21	c.187 others(40): Show c.1876-1927_1876-1926insTTTTTTTTTTTTTTTTTTTTT		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATL2_chr2_38288954_38382273	38334864	T T	TTATATAA others(14): Show TTATATAATATATATTATATAA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	234	0.0043	21	c.363 others(38): Show c.363+8383_363+8403dupTTATATAATATATATTATATA		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATL2_chr2_38288954_38382273	38334878	T T	TTATATAA others(14): Show TTATATAATATATAATATATAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	234	0.0043	21	c.363 others(38): Show c.363+8389_363+8390insTTATATATTATATATTATATA		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATL2_chr2_38288954_38382273	38337486	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0234 a0002c0002t0001g0234	1	28	0.0357	21	c.363 others(38): Show c.363+5761_363+5781dupTTTTTTTTTTTTTTTTTTTTT		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATN1_chr12_6922959_6947321	6936728	A A	ACAGCAGC others(14): Show ACAGCAGCAGCAGCAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18954.hp2 NA18959.hp2 NA18954.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0008 a0001c0001t0001g0010	2	123	0.0163	21	c.148 others(30): Show c.1488_1508dupGCAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln496_Gln502dup	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2097/4702	1509/3573	503/1190		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATOSA_chr15_52576321_52684388	52640571	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG04115.hp2 HG02559.hp2 HG04115.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0196 a0004c0005t0001g0247 a0004c0005t0001g0196 a0004c0005t0001g0247	2	40	0.0500	21	c.17- others(38): Show c.17-26735_17-26715dupTTTTTTTTTTTTTTTTTTTTT		ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	2/12						chr15	TogoVar
ATOSA_chr15_52576321_52684388	52672172	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02818.hp1 HG02109.hp1 HG02818.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0011 a0006c0006t0004g0011	2	138	0.0145	21	c.16+ others(36): Show c.16+5813_16+5833dupTTTTTTTTTTTTTTTTTTTTT		ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	2/12						chr15	TogoVar
ATP10B_chr5_160558120_160857211	160652895	A A	AATATATT others(14): Show AATATATTATATATACATGTAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp2 NA18953.hp1 NA18953.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0018 a0004c0009t0003 a0001c0002t0018 a0004c0009t0003	a0001c0002t0018g0085 a0004c0009t0003g0053 a0001c0002t0018g0085 a0004c0009t0003g0053	2	234	0.0085	21	c.676 others(38): Show c.676-3660_676-3640dupATACATGTATATATAATATAT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160669918	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0038 a0014c0021t0038	a0014c0021t0038g0032 a0014c0021t0038g0032	1	42	0.0238	21	c.675 others(36): Show c.675+544_675+545insTTTTTTTTTTTTTTTTTTTTT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
ATP11A_chr13_112685038_112892168	112746136	G G	GTGATCGT others(14): Show GTGATCGTGAGTGCTGCGGCGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02809.hp1 others(10): Show HG02451.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA20300.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0004 a0001c0006 others(4): Show a0001c0001 a0001c0004 a0001c0006 a0001c0009 a0001c0019 a0001c0029 a0012c0043	a0001c0001t0002 a0001c0001t0021 a0001c0004t0003 others(6): Show a0001c0001t0002 a0001c0001t0021 a0001c0004t0003 a0001c0004t0044 a0001c0006t0004 a0001c0009t0003 a0001c0019t0008 a0001c0029t0053 a0012c0043t0001	a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0049 others(10): Show a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0049 a0001c0004t0003g0079 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0044g0057 a0001c0006t0004g0036 a0001c0006t0004g0115 a0001c0009t0003g0218 a0001c0019t0008g0051 a0001c0029t0053g0046 a0012c0043t0001g0069	13	252	0.0516	21	c.40- others(38): Show c.40-38991_40-38990insAGTGCTGCGGCGCTGATCGTG		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112802425	C C	CCACCCAG others(14): Show CCACCCAGATAGTCAACCCATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02647.hp2 others(7): Show HG02258.hp2 HG02451.hp2 HG02647.hp2 HG02886.hp1 HG02895.hp2 HG03453.hp2 HG06807.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0004c0015	a0001c0001t0002 a0001c0001t0021 a0001c0004t0003 others(2): Show a0001c0001t0002 a0001c0001t0021 a0001c0004t0003 a0001c0006t0004 a0004c0015t0002	a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0034 others(7): Show a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0034 a0001c0004t0003g0049 a0001c0004t0003g0079 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0006t0004g0036 a0001c0006t0004g0115 a0004c0015t0002g0052	10	251	0.0398	21	c.163 others(38): Show c.163-2511_163-2491dupTCACCCAGATAGTCAACCCAT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11B_chr3_182788504_182926629	182797707	C C	CAAAAAAG others(14): Show CAAAAAAGAAAAAAGAAAAAAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp2 HG02630.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0272 a0001c0002t0007g0273 a0001c0002t0007g0272 a0001c0002t0007g0273	2	262	0.0076	21	c.27+ others(36): Show c.27+3931_27+3951dupAAAAGAAAAAAGAAAAAAGAA		ATP11B	ENSG00000058063.16	transcript	ENST00000323116.10	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP11C_chrX_139721348_139938053	139866343	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA18990.hp1 HG01981.hp2 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0002c0002t0005 a0001c0003t0002 a0002c0002t0005	a0001c0003t0002g0038 a0002c0002t0005g0014 a0001c0003t0002g0038 a0002c0002t0005g0014	2	90	0.0222	21	c.28- others(38): Show c.28-39541_28-39521dupTTTTTTTTTTTTTTTTTTTTT		ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	1/29						chrX	TogoVar
ATP13A3_chr3_194397677_194492002	194409693	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	119	0.0084	21	c.357 others(40): Show c.3573+2485_3573+2505dupAAAAAAAAAAAAAAAAAAAAA		ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	33/33						chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194486980	G G	GGAGCGCG others(14): Show GGAGCGCGCGCGGGCTCAGGAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01243.hp2 NA21309.hp1 HG01243.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0303 a0001c0001t0020g0304 a0001c0001t0020g0303 a0001c0001t0020g0304	2	302	0.0066	21	c.-52 others(30): Show c.-524_-504dupGTCCTGAGCCCGCGCGCGCTC		ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	1/34				24791		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874406	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0107 a0001c0001t0006g0107	1	264	0.0038	21	c.-23 others(32): Show c.-2396_-2395insAAAAAAAAAAAAAAAAAAAAA		ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding					2236		chr3	TogoVar
ATP2A2_chr12_110276247_110356093	110309140	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01978.hp1 HG01346.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0029 a0001c0001t0003 a0001c0001t0029	a0001c0001t0003g0196 a0001c0001t0029g0197 a0001c0001t0003g0196 a0001c0001t0029g0197	2	46	0.0435	21	c.463 others(40): Show c.463+12418_463+12438dupTTTTTTTTTTTTTTTTTTTTT		ATP2A2	ENSG00000174437.18	transcript	ENST00000539276.7	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89641479	T T	TACACCTT others(14): Show TACACCTTATACACATAGCCTA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	330	0.0030	21	c.406 others(36): Show c.406+658_406+678dupTAGGCTATGTGTATAAGGTGT		ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	3/20						chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89658598	G G	GAGAGAGA others(14): Show GAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	46	0.0217	21	c.-22 others(40): Show c.-221-2492_-221-2491insTCTCTCTCTCTCTCTCTCTCT		ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20						chr12	TogoVar
ATP2B2_chr3_10319023_10510586	10319574	G G	GGCTGCCT others(14): Show GGCTGCCTGTCTAGAATGTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0185 a0001c0010t0003g0185	1	288	0.0035	21	c.92 others(32): Show c.9219_*9239dupTTTACATTCTAGACAGGCAGC		ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding					4448		chr3	TogoVar
ATP2B4_chr1_203621832_203749081	203686685	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18968.hp2 NA19007.hp1 NA18962.hp1 NA18968.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0181 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0003g0181 a0001c0001t0004g0184 a0001c0001t0004g0185	3	35	0.0857	21	c.193 others(38): Show c.193+3293_193+3313dupTTTTTTTTTTTTTTTTTTTTT		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(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0149 a0001c0001t0009g0149	1	277	0.0036	21	c.240 others(40): Show c.2407-1304_2407-1303insAAAAAAAAAAAAAAAAAAAAA		ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2C2_chr16_84363538_84469187	84397655	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp2 HG01258.hp2 others(12): Show HG01243.hp1 HG01256.hp2 HG01258.hp2 HG02602.hp1 HG02622.hp1 HG02976.hp1 HG03579.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18956.hp2 NA18959.hp2 NA19082.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0005 a0001c0081 others(6): Show a0001c0001 a0001c0005 a0001c0081 a0002c0004 a0002c0006 a0002c0019 a0002c0031 a0002c0070 a0012c0064	a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 a0001c0081t0001 a0002c0004t0001 a0002c0006t0001 a0002c0019t0002 a0002c0031t0003 a0002c0070t0001 a0012c0064t0005	a0001c0001t0002g0336 a0001c0001t0002g0354 a0001c0001t0003g0357 others(12): Show a0001c0001t0002g0336 a0001c0001t0002g0354 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0005t0001g0067 a0001c0005t0001g0216 a0001c0005t0001g0356 a0001c0081t0001g0108 a0002c0004t0001g0068 a0002c0006t0001g0035 a0002c0006t0001g0129 a0002c0019t0002g0301 a0002c0031t0003g0133 a0002c0070t0001g0034 a0012c0064t0005g0130	15	34	0.4412	21	c.100 others(36): Show c.100-826_100-825insAAAAAAAAAAAAAAAAAAAAA		ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84424599	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0191 a0001c0005t0001g0191	1	364	0.0027	21	c.920 others(38): Show c.920-1136_920-1135insTTTTTTTTTTTTTTTTTTTTA		ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	10/26						chr16	TogoVar
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	8	0.1250	21	c.32 others(32): Show c.3298_*3299insAAAAAAAAAAAAAAAAAAAAA		ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding					3197		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp2 HG01257.hp1 others(9): Show HG00408.hp2 HG00741.hp2 HG01257.hp1 HG02056.hp1 HG02602.hp2 HG03834.hp2 NA18953.hp1 NA18960.hp1 NA18982.hp2 NA18983.hp2 NA19000.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0058 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0094	12	79	0.1519	21	c.39+ others(34): Show c.39+472_39+492dupTTTTTTTTTTTTTTTTTTTTT		ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4						chr12	TogoVar
ATP5MGL_chr22_42634803_42645601	42638728	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01255.hp2 HG01361.hp1 others(15): Show HG00609.hp2 HG01255.hp2 HG01361.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG02602.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03927.hp1 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18955.hp2 NA18967.hp2 NA19012.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	18	78	0.2308	21	c.12 others(32): Show c.1223_*1243dupTTTTTTTTTTTTTTTTTTTTT		ATP5MGL	ENSG00000249222.1	transcript	ENST00000505920.1	protein_coding					1074		chr22	TogoVar
ATP5MK_chr10_103384050_103401475	103385577	T T	TACACTTC others(14): Show TACACTTCCATTATTGAGGTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	436	0.0023	21	c.35 others(32): Show c.3572_*3592dupGAACCTCAATAATGGAAGTGT		ATP5MK	ENSG00000173915.16	transcript	ENST00000369815.6	protein_coding					3472		chr10	TogoVar
ATP6V0A2_chr12_123707353_123766755	123765585	T T	TATCTATC others(14): Show TATCTATCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0183 a0001c0001t0017g0183	1	204	0.0049	21	c.75 others(32): Show c.7553_*7554insATCTATCTATCTATCTATCTA		ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding					3831		chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707154	A A	ATATATAA others(14): Show ATATATAATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03239.hp1 NA18950.hp2 HG00408.hp1 HG03239.hp1 NA18950.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0155 a0001c0001t0001g0265 a0002c0002t0001g0283 a0001c0001t0001g0155 a0001c0001t0001g0265 a0002c0002t0001g0283	3	373	0.0080	21	c.243 others(38): Show c.2430-458_2430-438dupATATATATAATATATTATATA		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21						chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737113	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03130.hp1 HG02818.hp1 HG03130.hp1	a0001 a0009 a0001 a0009	a0001c0005 a0009c0042 a0001c0005 a0009c0042	a0001c0005t0001 a0009c0042t0001 a0001c0005t0001 a0009c0042t0001	a0001c0005t0001g0032 a0009c0042t0001g0111 a0001c0005t0001g0032 a0009c0042t0001g0111	2	165	0.0121	21	c.157 others(40): Show c.1572+2426_1572+2427insTATATATATATATATATATAT		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21						chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138745658	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp1 HG02630.hp2 HG02976.hp1	a0001 a0001	a0001c0005 a0001c0023 a0001c0005 a0001c0023	a0001c0005t0004 a0001c0023t0001 a0001c0005t0004 a0001c0023t0001	a0001c0005t0004g0356 a0001c0023t0001g0336 a0001c0005t0004g0356 a0001c0023t0001g0336	2	116	0.0172	21	c.132 others(38): Show c.1321-379_1321-378insTTTTTTTTTTTTTTTTTTTTT		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21						chr7	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631707	T T	TATATATA others(14): Show TATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG04199.hp1 HG04199.hp2 HG02074.hp1 HG04199.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0001g0119	3	346	0.0087	21	c.-30 others(32): Show c.-3073_-3072insTATATATATATATATATATAT		ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding					2959		chr22	TogoVar
ATP7A_chrX_77905693_78055395	77956726	C C	CTCTTTCT others(14): Show CTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0133 a0003c0004t0009g0134 a0003c0004t0009g0133 a0003c0004t0009g0134	2	46	0.0435	21	c.-21 others(40): Show c.-21-14895_-21-14894insTCTTTCTTTCTTTCTTTCTTT		ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22						chrX	TogoVar
ATP7B_chr13_51927669_52016450	51953851	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02895.hp1 HG02897.hp1 others(2): Show HG01243.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp2 HG03579.hp1	a0002 a0003 a0009 others(1): Show a0002 a0003 a0009 a0013	a0002c0002 a0003c0003 a0009c0016 others(1): Show a0002c0002 a0003c0003 a0009c0016 a0013c0022	a0002c0002t0009 a0003c0003t0009 a0009c0016t0005 others(1): Show a0002c0002t0009 a0003c0003t0009 a0009c0016t0005 a0013c0022t0017	a0002c0002t0009g0010 a0003c0003t0009g0190 a0009c0016t0005g0270 others(1): Show a0002c0002t0009g0010 a0003c0003t0009g0190 a0009c0016t0005g0270 a0013c0022t0017g0034	5	140	0.0357	21	c.244 others(40): Show c.2448-3453_2448-3452insTTTTTTTTTTTTTTTTTTTTT		ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	9/20						chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42446080	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0253 a0001c0001t0006g0253	1	15	0.0667	21	c.295 others(38): Show c.2958+502_2958+503insTTTTTTTTTTTTTTTTTTTTT		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	31/36						chr4	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(16): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01516.hp1 HG02071.hp2 HG02074.hp1 HG02602.hp2 HG03195.hp1 HG03471.hp2 HG03834.hp2 NA18950.hp1 NA18952.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0038	a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0076 others(16): Show a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0003g0209 a0001c0001t0003g0238 a0001c0001t0003g0241 a0001c0001t0003g0284 a0001c0001t0003g0303 a0001c0001t0004g0138 a0001c0001t0009g0288 a0001c0001t0011g0184 a0001c0001t0011g0191 a0001c0001t0012g0178 a0001c0001t0015g0166 a0001c0001t0017g0222 a0001c0001t0021g0002 a0001c0001t0038g0190	19	32	0.5938	21	c.163 others(40): Show c.1630+3738_1630+3758dupTTTTTTTTTTTTTTTTTTTTT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713159	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0113	1	312	0.0032	21	c.182 others(38): Show c.182-6593_182-6573dupAGAAAGAAAGAAAGAAAGAAA		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27						chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50029255	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0139 a0003c0003t0003g0139	1	241	0.0041	21	c.362 others(38): Show c.362+9512_362+9513insGTTTTTTTTTTTTTTTTTTTT		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	6/27						chr15	TogoVar
ATP9A_chr20_51591514_51773390	51623801	A A	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0083 a0001c0001t0008g0083	1	148	0.0068	21	c.201 others(40): Show c.2016+1390_2016+1391insCTTTCTTTCTTTCTTTCTTTT		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	18/27						chr20	TogoVar
ATP9A_chr20_51591514_51773390	51642726	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19009.hp1 NA18947.hp2 NA19009.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0067 a0001c0008t0005 a0001c0004t0067 a0001c0008t0005	a0001c0004t0067g0168 a0001c0008t0005g0130 a0001c0004t0067g0168 a0001c0008t0005g0130	2	223	0.0090	21	c.150 others(40): Show c.1507-3243_1507-3223dupTTTTTTTTTTTTTTTTTTTTT		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27						chr20	TogoVar

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