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
ATAD2B_chr2_23743664_23932123	23792962	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	64	0.0156	30	c.264 others(49): Show c.2641-4316_2641-4315insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	19/27						chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG04228.hp2 HG01168.hp2 HG04228.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0004c0007t0002 a0001c0001t0002 a0004c0007t0002	a0001c0001t0002g0086 a0004c0007t0002g0062 a0001c0001t0002g0086 a0004c0007t0002g0062	2	191	0.0105	30	c.902 others(47): Show c.902-2122_902-2121insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27						chr2	TogoVar
ATAD2_chr8_123314850_123401447	123354864	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0010 a0001c0002t0007g0010	1	135	0.0074	30	c.164 others(49): Show c.1646+1524_1646+1525insATATATATATATATATATATTTTTTT TTTT		ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	13/27						chr8	TogoVar
ATAD2_chr8_123314850_123401447	123354864	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0008 a0001c0002t0003g0008	1	135	0.0074	30	c.164 others(49): Show c.1646+1524_1646+1525insATATATATATATATATATATATATAT TTTT		ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	13/27						chr8	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 NA18965.hp1 HG00408.hp1 HG00621.hp2 NA18965.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0014 a0001c0001 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0004c0014t0001 a0001c0001t0001 a0001c0001t0002 a0004c0014t0001	a0001c0001t0001g0250 a0001c0001t0002g0088 a0004c0014t0001g0231 a0001c0001t0001g0250 a0001c0001t0002g0088 a0004c0014t0001g0231	3	49	0.0612	30	c.320 others(47): Show c.320+3437_320+3438insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27						chr8	TogoVar
ATAD2_chr8_123314850_123401447	123389960	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	94	0.0106	30	c.171 others(47): Show c.171+6226_171+6227insTATATATATATATATATATATATATATA TA		ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	1/27						chr8	TogoVar
ATF7_chr12_53507054_53631382	53529734	C C	CACACACA others(23): Show CACACACACACACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	305	0.0033	30	c.927 others(47): Show c.927+2009_927+2010insATATGTGTGTGTGTGTGTGTGTGTGTGT GT		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	9/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53587366	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	89	0.0112	30	c.48+ others(47): Show c.48+13586_48+13587insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53587843	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	205	0.0049	30	c.48+ others(47): Show c.48+13109_48+13110insAAAATATATATATATATATATATATATA TA		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11						chr12	TogoVar
ATG10_chr5_81967023_82261133	81967163	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01261.hp1 HG01884.hp1 others(6): Show HG00741.hp2 HG01261.hp1 HG01884.hp1 HG02717.hp2 HG03239.hp1 HG03486.hp2 HG03669.hp1 NA18951.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0002c0002t0002	a0001c0001t0001g0167 a0001c0001t0005g0024 a0001c0001t0005g0026 others(6): Show a0001c0001t0001g0167 a0001c0001t0005g0024 a0001c0001t0005g0026 a0001c0001t0009g0150 a0001c0001t0009g0151 a0001c0001t0009g0152 a0001c0001t0011g0097 a0001c0001t0011g0101 a0002c0002t0002g0128	9	16	0.5625	30	c.-51 others(41): Show c.-5156_-5155insAAAATAAAATAAAATAAAATAAAATAAAAT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding					4859		chr5	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCCTTCTTTCTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02004.hp1 HG02735.hp2 HG01081.hp2 HG02004.hp1 HG02735.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0003c0003t0007 a0001c0001t0005 a0003c0003t0007	a0001c0001t0005g0016 a0001c0001t0005g0017 a0003c0003t0007g0038 a0001c0001t0005g0016 a0001c0001t0005g0017 a0003c0003t0007g0038	3	151	0.0199	30	c.108 others(47): Show c.108+5681_108+5682insTTTCTTTCTTTCCTTCTTTCTTTCTTTT CT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7						chr5	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(23): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0075 a0002c0002t0008g0075	1	149	0.0067	30	c.108 others(47): Show c.108+5681_108+5682insTTTCTTTTCTTTTCTTTTCTTTTCTTTT CT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7						chr5	TogoVar
ATG10_chr5_81967023_82261133	81993396	T T	TTCTTTTC others(23): Show TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0182 a0004c0004t0004g0182	1	224	0.0045	30	c.108 others(47): Show c.108+5747_108+5748insATCTTTTCTTTTCTTTTCTTTTCTTTTC TT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82118402	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0033 a0001c0001t0007g0033	1	222	0.0045	30	c.217 others(49): Show c.217-45994_217-45993insATATATATATATATATATATATATAT GTAT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG13_chr11_46612553_46679518	46654281	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	155	0.0065	30	c.459 others(47): Show c.459-1951_459-1950insATATATATATATATATATATATATATAT AT		ATG13	ENSG00000175224.17	transcript	ENST00000683050.1	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
ATG4A_chrX_108086778_108159671	108148020	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	5	0.2000	30	c.815 others(47): Show c.815-2105_815-2076dupATATATATATATATATATATATATATAT AT		ATG4A	ENSG00000101844.18	transcript	ENST00000372232.8	protein_coding	9/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATG5_chr6_106179476_106330760	106208203	T T	TACATATG others(23): Show TACATATGTGTATATATACATCTGTGTAAAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG04228.hp1 NA18965.hp1 HG03209.hp2 HG04228.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0072 a0001c0001t0001g0129 a0001c0001t0001g0138	3	356	0.0084	30	c.574 others(47): Show c.574-6144_574-6115dupGTTTACACAGATGTATATATACACATAT GT		ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	6/7						chr6	TogoVar
ATG5_chr6_106179476_106330760	106208224	C C	CTGTGTAA others(23): Show CTGTGTAAACACATATGTGTATATATACATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00673.hp1 others(15): Show HG00621.hp2 HG00639.hp1 HG00673.hp1 HG01123.hp1 HG01496.hp2 HG01943.hp2 HG02129.hp2 HG02135.hp2 HG03490.hp2 HG03491.hp1 HG03942.hp2 NA18942.hp1 NA18959.hp2 NA18971.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 others(15): Show a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0296 a0001c0001t0009g0288	18	356	0.0506	30	c.574 others(47): Show c.574-6136_574-6135insTATGTATATATACACATATGTGTTTACA CA		ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	6/7						chr6	TogoVar
ATG5_chr6_106179476_106330760	106208254	C C	CTGTGTAA others(23): Show CTGTGTAAACACATATGTGTATATATACATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18977.hp1 NA18981.hp2 HG02698.hp1 NA18977.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0265 a0001c0001t0001g0275 a0001c0001t0001g0276	3	316	0.0095	30	c.574 others(47): Show c.574-6166_574-6165insTATGTATATATACACATATGTGTTTACA CA		ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	6/7						chr6	TogoVar
ATG7_chr3_11267397_11562665	11378685	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0258 a0005c0008t0004g0258	1	10	0.1000	30	c.187 others(49): Show c.1876-1263_1876-1262insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATL2_chr2_38288954_38382273	38329423	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	74	0.0135	30	c.364 others(49): Show c.364-10405_364-10404insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATL2_chr2_38288954_38382273	38337486	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02280.hp1 HG01069.hp2 HG01071.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0077 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0077	3	30	0.1000	30	c.363 others(47): Show c.363+5752_363+5781dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATL3_chr11_63619087_63676376	63657208	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0032 a0001c0001t0007g0032	1	196	0.0051	30	c.405 others(47): Show c.405+1552_405+1553insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATL3	ENSG00000184743.13	transcript	ENST00000398868.8	protein_coding	3/12						chr11	TogoVar
ATN1_chr12_6922959_6947321	6936728	A A	ACAGCAGC others(23): Show ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18965.hp2 NA18965.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0001 a0014c0019t0001	a0014c0019t0001g0002 a0014c0019t0001g0002	1	122	0.0082	30	c.147 others(39): Show c.1479_1508dupGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln493_Gln502dup	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2097/4702	1509/3573	503/1190		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP10B_chr5_160558120_160857211	160653450	A A	ACATATAT others(23): Show ACATATATATTACATATACATATATACATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(51): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00673.hp2 HG00738.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG02074.hp2 HG02083.hp1 HG02451.hp1 HG02622.hp2 HG02683.hp2 HG03017.hp1 HG03017.hp2 HG03492.hp2 HG03831.hp1 HG03927.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18942.hp1 NA18948.hp2 NA18961.hp1 NA18961.hp2 NA18972.hp1 NA18990.hp2 NA19084.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0010 others(4): Show a0001 a0002 a0010 a0012 a0015 a0021 a0022	a0001c0001 a0001c0002 a0001c0005 others(12): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0001c0033 a0002c0004 a0002c0010 a0002c0013 a0002c0023 a0002c0037 a0010c0014 a0012c0034 a0015c0026 a0021c0035 a0022c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0049 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0005t0014 a0001c0005t0016 a0001c0011t0035 a0001c0033t0016 a0002c0004t0004 a0002c0004t0008 a0002c0010t0002 a0002c0010t0004 a0002c0010t0008 a0002c0013t0043 a0002c0023t0036 a0002c0037t0006 a0010c0014t0050 a0012c0034t0004 a0015c0026t0002 a0021c0035t0004 a0022c0020t0009	a0001c0001t0001g0020 a0001c0001t0002g0009 a0001c0001t0002g0010 others(51): Show a0001c0001t0001g0020 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0040 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0116 a0001c0001t0002g0130 a0001c0001t0002g0148 a0001c0001t0002g0193 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0216 a0001c0001t0004g0126 a0001c0001t0004g0165 a0001c0001t0004g0232 a0001c0001t0009g0007 a0001c0001t0009g0041 a0001c0001t0009g0080 a0001c0001t0009g0101 a0001c0001t0009g0207 a0001c0001t0049g0132 a0001c0002t0005g0017 a0001c0002t0005g0127 a0001c0002t0006g0068 a0001c0002t0006g0218 a0001c0002t0010g0111 a0001c0002t0010g0149 a0001c0002t0010g0211 a0001c0005t0014g0022 a0001c0005t0014g0044 a0001c0005t0014g0082 a0001c0005t0016g0109 a0001c0011t0035g0195 a0001c0033t0016g0210 a0002c0004t0004g0156 a0002c0004t0008g0086 a0002c0004t0008g0095 a0002c0010t0002g0200 a0002c0010t0004g0110 a0002c0010t0004g0142 a0002c0010t0008g0014 a0002c0013t0043g0181 a0002c0023t0036g0152 a0002c0037t0006g0015 a0010c0014t0050g0106 a0012c0034t0004g0055 a0015c0026t0002g0035 a0021c0035t0004g0062 a0022c0020t0009g0094	54	220	0.2455	30	c.676 others(47): Show c.676-4195_676-4194insATATGTATATATGTATATGTAATATATA TG		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160704914	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03017.hp1 HG02486.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0001t0002 a0001c0002t0005	a0001c0001t0002g0074 a0001c0002t0005g0021 a0001c0001t0002g0074 a0001c0002t0005g0021	2	34	0.0588	30	c.-20 others(51): Show c.-205+11994_-205+11995insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	3/25						chr5	TogoVar
ATP10D_chr4_47480275_47598486	47482454	C C	CTCTTCCT others(23): Show CTCTTCCTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0042 a0042	a0042c0035 a0042c0035	a0042c0035t0012 a0042c0035t0012	a0042c0035t0012g0021 a0042c0035t0012g0021	1	216	0.0046	30	c.-31 others(41): Show c.-3103_-3102insTCTTCCTCTTCTTCTTCTTCTTCTTCTTCT		ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding					2820		chr4	TogoVar
ATP11A_chr13_112685038_112892168	112804051	T T	TTCCTCCT others(23): Show TTCCTCCTTTCTTCCCTTCCTTCCCTCATTC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0067 a0001c0026t0001g0067	1	242	0.0041	30	c.163 others(45): Show c.163-898_163-897insTCTTCCCTTCCTTCCCTCATTCTCCTCCTT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112828118	G G	GAAACGCC others(23): Show GAAACGCCCAGCAGTGTTGAGTGCGGGGGGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0052 a0001c0004t0052	a0001c0004t0052g0033 a0001c0004t0052g0033	1	87	0.0115	30	c.122 others(49): Show c.1221+1229_1221+1230insACGCCCAGCAGTGTTGAGTGCGGGGG GAAA		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	12/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112828118	G G	GGAAACGC others(23): Show GGAAACGCCCAGCAGTGTTGAGTGCGGGGGA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0096 a0001c0001t0010g0096	1	87	0.0115	30	c.122 others(49): Show c.1221+1227_1221+1228insGAAACGCCCAGCAGTGTTGAGTGCGG GGGA		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	12/29						chr13	TogoVar
ATP11B_chr3_182788504_182926629	182839604	A A	ATTTATTT others(23): Show ATTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0268 a0001c0002t0010g0268	1	145	0.0069	30	c.656 others(47): Show c.656+2447_656+2448insTATTTTATTTTATTTTATTTTATTTTAT TT		ATP11B	ENSG00000058063.16	transcript	ENST00000323116.10	protein_coding	7/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP11C_chrX_139721348_139938053	139922223	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0218 a0001c0001t0009g0218	1	11	0.0909	30	c.27+ others(45): Show c.27+9763_27+9792dupATATATATATATATATATATATATATATAT		ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	1/29						chrX	TogoVar
ATP1A4_chr1_160146603_160191980	160151156	A A	ACCTGTAA others(23): Show ACCTGTAAATTTTGGCTAAAATTACAGGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0064 a0001c0003t0001g0064	1	416	0.0024	30	c.-88 others(39): Show c.-885_-884insCCTGTAAATTTTGGCTAAAATTACAGGTGC		ATP1A4	ENSG00000132681.17	transcript	ENST00000368081.9	protein_coding					446		chr1	TogoVar
ATP1A4_chr1_160146603_160191980	160186086	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0177 a0002c0013t0002g0177	1	96	0.0104	30	c.297 others(47): Show c.2970-168_2970-167insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		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(23): Show AAAAAAAAAAAAAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0102 a0001c0001t0006g0102	1	106	0.0094	30	c.-23 others(41): Show c.-2364_-2363insAAAAAAAAAAAAAAAAAAAAAAATATATAT		ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding					2204		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0103 a0001c0001t0006g0103	1	106	0.0094	30	c.-23 others(41): Show c.-2364_-2363insAAAAAAAAAAATATATATATATATATATAT		ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding					2204		chr3	TogoVar
ATP2B1_chr12_89583049_89713838	89677971	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03927.hp2 HG01109.hp1 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0046 a0001c0002t0001g0040 a0001c0002t0001g0046	2	210	0.0095	30	c.-22 others(51): Show c.-221-21865_-221-21864insGTGTGTATATATATATATATATAT ATATAT		ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20						chr12	TogoVar
ATP2B4_chr1_203621832_203749081	203744827	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0232 a0001c0001t0004g0232	1	209	0.0048	30	c.49 others(41): Show c.4973_*4974insACACACACACACACACACACACACACACAC		ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding					747		chr1	TogoVar
ATP2C1_chr3_130889084_131008150	130903700	C C	CCCTTTCC others(23): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	109	0.0092	30	c.6+8 others(43): Show c.6+8933_6+8962dupTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC		ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C1_chr3_130889084_131008150	130941252	G G	GTGTGTCT others(23): Show GTGTGTCTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02486.hp1 HG02615.hp2 others(1): Show HG01255.hp1 HG02486.hp1 HG02615.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0004 a0001c0001t0001g0146 a0001c0001t0001g0147	4	336	0.0119	30	c.423 others(45): Show c.423-334_423-333insCTGTGTGTGTGTGTGTGTGTGTGTCTGTGT		ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	7/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C2_chr16_84363538_84469187	84383735	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0131 a0001c0009t0001g0131	1	376	0.0027	30	c.100 others(49): Show c.100-14749_100-14748insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		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(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp1 HG01069.hp1 others(2): Show HG00609.hp1 HG00738.hp1 HG01069.hp1 HG01981.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0002c0008	a0001c0001t0003 a0001c0003t0001 a0001c0005t0001 others(2): Show a0001c0001t0003 a0001c0003t0001 a0001c0005t0001 a0001c0010t0003 a0002c0008t0001	a0001c0001t0003g0324 a0001c0003t0001g0180 a0001c0005t0001g0188 others(2): Show a0001c0001t0003g0324 a0001c0003t0001g0180 a0001c0005t0001g0188 a0001c0010t0003g0147 a0002c0008t0001g0154	5	24	0.2083	30	c.100 others(45): Show c.100-826_100-825insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP5MC1_chr17_48887787_48900871	48890144	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02135.hp2 HG02622.hp2 others(3): Show HG02071.hp1 HG02135.hp2 HG02622.hp2 HG02630.hp2 HG03017.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0016 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0003g0005	6	158	0.0380	30	c.-27 others(41): Show c.-2776_-2775insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG		ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding					2642		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01168.hp2 HG00733.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	69	0.0290	30	c.39+ others(43): Show c.39+492_39+493insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4						chr12	TogoVar
ATP5PB_chr1_111444464_111467773	111467020	G G	GAGACTGG others(23): Show GAGACTGGATAATTTATAAAGAAAATACAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	432	0.0023	30	c.60 others(41): Show c.6026_*6027insAGACTGGATAATTTATAAAGAAAATACAAT		ATP5PB	ENSG00000116459.11	transcript	ENST00000369722.8	protein_coding					4248		chr1	TogoVar
ATP6AP2_chrX_40575970_40611848	40610862	T T	TATATACA others(23): Show TATATACATATATGTATATGTATATATTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG02717.hp1 others(2): Show HG00642.hp1 HG00741.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0003 a0002c0005t0001 a0001c0002t0003 a0002c0005t0001	a0001c0002t0003g0040 a0001c0002t0003g0184 a0002c0005t0001g0002 others(1): Show a0001c0002t0003g0040 a0001c0002t0003g0184 a0002c0005t0001g0002 a0002c0005t0001g0009	5	297	0.0168	30	c.51 others(41): Show c.5107_*5108insATATACATATATGTATATGTATATATTCAC		ATP6AP2	ENSG00000182220.15	transcript	ENST00000636580.2	protein_coding					4015		chrX	TogoVar
ATP6AP2_chrX_40575970_40611848	40610889	T T	TCACATAT others(23): Show TCACATATACATATATACATCTATGTACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00639.hp1 others(67): Show HG00438.hp2 HG00621.hp1 HG00639.hp1 HG01081.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02145.hp1 HG02155.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18941.hp2 NA18946.hp2 NA18953.hp1 NA18963.hp1 NA18969.hp2 NA18972.hp1 NA18979.hp2 NA18989.hp1 NA18998.hp1 NA19002.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19078.hp2 NA19084.hp2 NA19086.hp1 NA19240.hp1 NA20300.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0004 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0003t0003 a0001c0006t0003 a0003c0004t0003 a0005c0008t0003	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0003g0020 others(48): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0003g0020 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0016 a0001c0002t0002g0030 a0001c0002t0002g0041 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0118 a0001c0002t0002g0139 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0175 a0001c0002t0002g0178 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0143 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0172 a0001c0002t0006g0144 a0001c0002t0007g0005 a0001c0003t0003g0028 a0001c0003t0003g0029 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0003t0003g0077 a0001c0006t0003g0072 a0001c0006t0003g0073 a0003c0004t0003g0015 a0003c0004t0003g0162 a0003c0004t0003g0181 a0005c0008t0003g0168	70	297	0.2357	30	c.51 others(41): Show c.5134_*5135insCACATATACATATATACATCTATGTACATG		ATP6AP2	ENSG00000182220.15	transcript	ENST00000636580.2	protein_coding					4042		chrX	TogoVar
ATP6V0A2_chr12_123707353_123766755	123712055	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 NA20805.hp1 HG00140.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0002 a0001c0001t0014 a0001c0002t0002	a0001c0001t0014g0016 a0001c0002t0002g0004 a0001c0001t0014g0016 a0001c0002t0002g0004	2	173	0.0116	30	c.-51 others(39): Show c.-511_-510insCACACACACACACACACACACACACACACA		ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding					297		chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138704324	C C	CGGTGGCT others(23): Show CGGTGGCTCACACCTGTAATCCCAGCACTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0068 a0003c0004t0008g0068	1	374	0.0027	30	c.22 others(41): Show c.2299_*2300insAAAGTGCTGGGATTACAGGTGTGAGCCACC		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding					1969		chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707363	T T	TTATATAT others(23): Show TTATATATATATTTATATATATATTATATTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0147 a0002c0003t0001g0147	1	372	0.0027	30	c.243 others(47): Show c.2430-647_2430-646insTAATATAATATATATATAAATATATATA TA		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21						chr7	TogoVar

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