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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LRRC8C_chr1_89628120_89724533	89638967	A A	ATTATTTT others(43): Show ATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT T	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19085.hp1 NA19004.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0240 a0002c0002t0003g0241 a0002c0002t0003g0240 a0002c0002t0003g0241	2	15	0.1333	50	c.-5+ others(65): Show c.-5+5676_-5+5677insTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTT	LRRC8C	ENSG00000171488.15	transcript	ENST00000370454.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
LRRIQ1_chr12_85031351_85250105	85217726	A A	ATGTGTAT others(43): Show ATGTGTATATATATGTATATATATGTAACTGTGTGTATATATATGTAACT G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp1 HG01192.hp1 HG01243.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0015 a0001c0001 a0012c0015	a0001c0001t0001 a0012c0015t0001 a0001c0001t0001 a0012c0015t0001	a0001c0001t0001g0074 a0012c0015t0001g0071 a0001c0001t0001g0074 a0012c0015t0001g0071	2	175	0.0114	50	c.482 others(71): Show c.4823-11775_4823-11774insTATATATGTAACTGTGTGTATATA TATGTAACTGTGTGTATATATATGTA	LRRIQ1	ENSG00000133640.20	transcript	ENST00000393217.7	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRTM4_chr2_76742685_77527376	76807438	G G	GTATATAC others(43): Show GTATATACATATATATATATACATATATATACATATATATATATACATAT A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0120 a0001c0001t0011g0120	1	90	0.0111	50	c.155 others(71): Show c.1552-58523_1552-58522insTATATGTATATATATATATGTATA TATATGTATATATATATATGTATATA	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
LRRTM4_chr2_76742685_77527376	77014503	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	61	0.0164	50	c.155 others(73): Show c.1552-265588_1552-265587insATATATATATATATATATATAT ATATATATATATATATATATATATATAT	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
LSM4_chr19_18301236_18328076	18316265	G G	GTAAAAAA others(43): Show GTAAAAAACACCCCTGCCCCCTCACGAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	392	0.0026	50	c.4-2 others(61): Show c.4-201_4-200insTTTTTTTTTTTTTTTTTTTTTTTTTCGTGAGGGG GCAGGGGTGTTTTTTA	LSM4	ENSG00000130520.11	transcript	ENST00000593829.6	protein_coding	1/4			chr19	TogoVar
LTBP1_chr2_32941953_33404509	33093912	T T	TTATTTTC others(43): Show TTATTTTCTTTTTAACATTTCAACAAAGTGGGACTTAGAACTCAGCATCT C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0105 a0001c0001t0014g0105	1	162	0.0062	50	c.864 others(69): Show c.864-16669_864-16620dupTATTTTCTTTTTAACATTTCAACAAA GTGGGACTTAGAACTCAGCATCTC	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP2_chr14_74493183_74617237	74564037	A A	ATATATAT others(43): Show ATATATATATATTTATATATATATTTATATATATATATTTATATATATAT T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	272	0.0037	50	c.831 others(67): Show c.831-8394_831-8345dupAATATATATATAAATATATATATATAAA TATATATATAAATATATATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LTBP2_chr14_74493183_74617237	74564065	A A	ATATATAT others(43): Show ATATATATTTATATATATATTTATATATATTTATATATATTTATATATAT T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	270	0.0037	50	c.831 others(67): Show c.831-8373_831-8372insAATATATATAAATATATATAAATATATA TAAATATATATATAAATATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LTBP2_chr14_74493183_74617237	74564167	A A	ATATATTT others(43): Show ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT T	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0089 a0001c0001t0008g0089	1	279	0.0036	50	c.831 others(67): Show c.831-8475_831-8474insAATATATATATAAATATATATAAATATA TATATAAATATATATAAATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LTBP2_chr14_74493183_74617237	74564369	A A	ATATATAT others(43): Show ATATATATATTTATATATATATATTTATATATATATATTTATATATATAT T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	238	0.0042	50	c.831 others(67): Show c.831-8677_831-8676insAATATATATATAAATATATATATATAAA TATATATATATAAATATATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LTBP4_chr19_40596369_40634818	40633760	A A	AAAAAAAG others(43): Show AAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0254 a0001c0006t0003g0254	1	161	0.0062	50	c.42 others(61): Show c.4210_*4211insAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAG	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding		3943		chr19	TogoVar
LURAP1L_chr9_12770020_12828060	12807094	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01975.hp2 NA18747.hp2 others(7): Show HG00423.hp2 HG01975.hp2 NA18747.hp2 NA18947.hp1 NA18949.hp2 NA19005.hp2 NA19007.hp1 NA19030.hp2 NA19074.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0161 a0001c0001t0001g0202 a0001c0001t0001g0239 others(7): Show a0001c0001t0001g0161 a0001c0001t0001g0202 a0001c0001t0001g0239 a0001c0001t0001g0353 a0001c0001t0002g0026 a0001c0001t0002g0105 a0001c0001t0002g0193 a0002c0002t0002g0015 a0002c0002t0002g0057 a0002c0002t0002g0058	10	201	0.0498	50	c.313 others(69): Show c.313-14268_313-14267insATATATATATATATATATATATATAT ATATATATATATATATATATATAT	LURAP1L	ENSG00000153714.6	transcript	ENST00000319264.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
LUZP2_chr11_24492053_25087638	24926459	A A	ATATATAC others(43): Show ATATATACGTGTATATATGTGTGTGTATATATATGTGTATATATGTGTGT G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp1 HG02683.hp2 HG01071.hp1 HG01106.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0019 a0001c0001t0002g0027 a0001c0001t0002g0028	3	116	0.0259	50	c.522 others(69): Show c.522+11955_522+12004dupGTGTATATATGTGTGTGTATATACGT GTATATATGTGTGTGTATATATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LY86_chr6_6583720_6659982	6585671	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG03471.hp2 HG02056.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0245 a0001c0001t0001g0006 a0001c0001t0001g0245	2	197	0.0102	50	c.-30 others(61): Show c.-3064_-3063insTATATATATATATATATATATATATATATATATA TATATATATATATATA	LY86	ENSG00000112799.9	transcript	ENST00000230568.5	protein_coding		3048		chr6	TogoVar
LY86_chr6_6583720_6659982	6585675	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATGAAGGAGA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02735.hp2 HG02738.hp1 others(1): Show HG00642.hp2 HG02735.hp2 HG02738.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112	4	329	0.0122	50	c.-30 others(61): Show c.-3060_-3059insTATATATATATATATATATATATATATATATATA TATATATGAAGGAGAG	LY86	ENSG00000112799.9	transcript	ENST00000230568.5	protein_coding		3044		chr6	TogoVar
LYPD5_chr19_43790927_43807447	43794410	C C	CATATATA others(43): Show CATATATATATATACATACATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0010 a0002c0001t0006g0010	1	403	0.0025	50	c.31 others(61): Show c.3180_*3181insATATATATATATATATATATATATATATATATGT ATGTATATATATATAT	LYPD5	ENSG00000159871.15	transcript	ENST00000377950.8	protein_coding		1516		chr19	TogoVar
LYPD5_chr19_43790927_43807447	43798190	C C	CCACCCTC others(43): Show CCACCCTCAGACCAGGGCCAAATCTTCTCCCTCAGACCAGGGTCAAACCT T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0085 a0003c0003t0001g0085	1	426	0.0023	50	c.517 others(65): Show c.517+264_517+265insAAGGTTTGACCCTGGTCTGAGGGAGAAGAT TTGGCCCTGGTCTGAGGGTG	LYPD5	ENSG00000159871.15	transcript	ENST00000377950.8	protein_coding	4/4			chr19	TogoVar
LYPD6_chr2_149325587_149479138	149418487	T T	TACATTTT others(43): Show TACATTTTGATCTGTATTGATAAGATTTTATAGTTAAAGCAAACTGGGTT A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0224 a0001c0001t0009g0224	1	228	0.0044	50	c.-71 others(69): Show c.-71-19149_-71-19100dupCATTTTGATCTGTATTGATAAGATTT TATAGTTAAAGCAAACTGGGTTAA	LYPD6	ENSG00000187123.15	transcript	ENST00000334166.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	258	0.0039	50	c.101 others(69): Show c.101+16774_101+16775insATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTTTTTTT	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8			chr8	TogoVar
LYRM1_chr16_20895771_20930006	20927049	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	205	0.0049	50	c.29 others(61): Show c.2933_*2934insATATATATATATATATATATATATATATATATAT ATATATATATATATAT	LYRM1	ENSG00000102897.10	transcript	ENST00000567954.6	protein_coding		2044		chr16	TogoVar
LYSMD3_chr5_90510626_90534584	90514755	A A	AACACACA others(43): Show AACACACACACACACACACACACACACACACACACACACACACACACACA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0019 a0001c0001t0010g0019	1	152	0.0066	50	c.40 others(61): Show c.4063_*4064insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	LYSMD3	ENSG00000176018.13	transcript	ENST00000315948.11	protein_coding		870		chr5	TogoVar
LYST_chr1_235656041_235871906	235755388	C C	CAAAAGAA others(43): Show CAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0003 a0003c0009t0003	a0003c0009t0003g0087 a0003c0009t0003g0087	1	47	0.0213	50	c.722 others(65): Show c.7229+89_7229+90insCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTT	LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	25/52			chr1	TogoVar
MACIR_chr5_103253763_103283660	103261650	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTC T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0052 a0001c0002t0003g0052	1	340	0.0029	50	c.-11 others(69): Show c.-114+2801_-114+2802insTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261654	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTC T	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19082.hp2 HG03579.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0201 a0001c0002t0003g0055 a0001c0001t0002g0201 a0001c0002t0003g0055	2	336	0.0060	50	c.-11 others(69): Show c.-114+2805_-114+2806insTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261709	T T	TCTTTCTT others(43): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCT C	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	335	0.0030	50	c.-11 others(69): Show c.-114+2833_-114+2834insCTTTCTTTCTTTCTTTCTTTCTTTCT TCTCCTTTCTTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAEA_chr4_1284891_1345137	1330310	T T	TTCTCTCT others(43): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0293 a0001c0002t0001g0293	1	195	0.0051	50	c.657 others(67): Show c.657-2432_657-2431insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCT	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGEB4_chrX_30237000_30249187	30245196	T T	TTTTTTTT others(43): Show TTTTTTTTATTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTGT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	343	0.0029	50	c.20 others(61): Show c.2020_*2021insTTTTTTTATTTTTTTTTTTTTTTTTTTTCTTTTT TTTTTTTTTTTTTGTA	MAGEB4	ENSG00000120289.12	transcript	ENST00000378982.4	protein_coding		1010		chrX	TogoVar
MAGI2_chr7_78012055_79458667	78573235	T T	TATATATA others(43): Show TATATATATAAATATATATATAAATATATATAAATATAAATATATATATA A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	34	0.0294	50	c.539 others(69): Show c.539-51591_539-51590insTTATATATATATTTATATTTATATAT ATTTATATATATATTTATATATAT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	3/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79186729	G G	GTATATAT others(43): Show GTATATATATATATTTATACAAAAGTATATATATATATTTATACAAAAGT A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0040 a0001c0007t0001g0040	1	26	0.0385	50	c.302 others(71): Show c.302-179524_302-179523insTACTTTTGTATAAATATATATATA TACTTTTGTATAAATATATATATATA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79367858	C C	CACACACA others(43): Show CACACACACACACACACACACACATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0014 a0001c0004t0001g0014	1	8	0.1250	50	c.301 others(69): Show c.301+85161_301+85162insATATATATATATATATATATATATAT ATGTGTGTGTGTGTGTGTGTGTGT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI3_chr1_113385515_113690923	113416024	T T	TAATTACA others(43): Show TAATTACACATATTAATTATGTAATGAATGACACATATTAATTATGTAAT G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0133 a0001c0001t0007g0133	1	233	0.0043	50	c.316 others(69): Show c.316+24678_316+24679insTACACATATTAATTATGTAATGAATG ACACATATTAATTATGTAATGAAT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113416078	G G	TACATATA others(43): Show TACATATATTAATTATGTAATTAATTACATATATTAATTATGTAATTAAT G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0056 a0001c0008t0010g0056	1	164	0.0061	50	c.316 others(69): Show c.316+24728_316+24729insTACATATATTAATTATGTAATTAATT ACATATATTAATTATGTAATTAAT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20			chr1	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(43): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0082 a0001c0001t0004g0082	1	17	0.0588	50	c.191 others(69): Show c.1911+2785_1911+2786insTATATATAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(43): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	17	0.0588	50	c.191 others(69): Show c.1911+2785_1911+2786insTATATATATAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(43): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	17	0.0588	50	c.191 others(69): Show c.1911+2785_1911+2786insTATATATATATAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(43): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	17	0.0588	50	c.191 others(69): Show c.1911+2785_1911+2786insTATATATATATATATAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(43): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	17	0.0588	50	c.191 others(69): Show c.1911+2785_1911+2786insTATATATATATATATATAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(43): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03834.hp1 HG02717.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0039 a0001c0001t0004g0022 a0001c0001t0001g0039 a0001c0001t0004g0022	2	18	0.1111	50	c.191 others(69): Show c.1911+2785_1911+2786insTATATATATATATATATATAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(43): Show TATATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	17	0.0588	50	c.191 others(69): Show c.1911+2785_1911+2786insTATATATATATATATATATATATAGA GAGAGAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(43): Show TATATATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0175 a0003c0011t0001g0175	1	17	0.0588	50	c.191 others(69): Show c.1911+2785_1911+2786insTATATATATATATATATATATATATA GAGAGAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0012 a0004c0005t0003g0012	1	17	0.0588	50	c.191 others(69): Show c.1911+2785_1911+2786insTATATATATATATATATATATATATA TAGAGAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0272 a0001c0006t0001g0272	1	17	0.0588	50	c.191 others(69): Show c.1911+2785_1911+2786insTATATATATATATATATATATATATA TATATATATATAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAML3_chr4_139711753_140159184	140104370	A A	ATATATAA others(43): Show ATATATAATATATATATATTATATATTATATAATATATATATATTATATA T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp2 HG01106.hp1 others(26): Show HG00408.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02132.hp2 HG02135.hp1 HG02523.hp2 HG02698.hp1 HG03017.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04228.hp2 NA18939.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp2 NA19011.hp2 NA19065.hp1 NA19065.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0013	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0027 a0002c0003 a0003c0006 a0004c0005 a0005c0008 a0013c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0042 a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0010t0011 a0001c0027t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0032 a0003c0006t0004 a0003c0006t0008 a0003c0006t0043 a0004c0005t0001 a0004c0005t0003 a0005c0008t0002 a0005c0008t0009 a0013c0025t0003	a0001c0001t0001g0042 a0001c0001t0001g0062 a0001c0001t0002g0032 others(26): Show a0001c0001t0001g0042 a0001c0001t0001g0062 a0001c0001t0002g0032 a0001c0001t0007g0076 a0001c0001t0030g0061 a0001c0001t0031g0083 a0001c0001t0033g0019 a0001c0001t0042g0119 a0001c0002t0001g0066 a0001c0002t0001g0098 a0001c0004t0001g0021 a0001c0004t0001g0108 a0001c0004t0002g0025 a0001c0004t0002g0045 a0001c0004t0002g0072 a0001c0010t0011g0054 a0001c0027t0001g0050 a0002c0003t0001g0078 a0002c0003t0003g0089 a0002c0003t0032g0031 a0003c0006t0004g0064 a0003c0006t0004g0082 a0003c0006t0008g0131 a0003c0006t0043g0148 a0004c0005t0001g0043 a0004c0005t0003g0077 a0005c0008t0002g0027 a0005c0008t0009g0128 a0013c0025t0003g0060	29	141	0.2057	50	c.468 others(69): Show c.468+48489_468+48490insATATATAATATATATATATTATATAA TATATAATATATATATATTATATA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140104382	T T	TAATATAT others(43): Show TAATATATTATATATTATATAATATATATATTATATATTATATAATATAT A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0006 a0001c0002t0016g0007 a0001c0002t0016g0006 a0001c0002t0016g0007	2	150	0.0133	50	c.468 others(69): Show c.468+48477_468+48478insTATATATTATATAATATATAATATAT ATATTATATAATATATAATATATT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140104395	T T	TTATATAA others(43): Show TTATATAATATATATATATTATATATTATATAATATATATATATTATATA A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp2 HG02486.hp2 HG03098.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0006c0007 a0002c0003 a0006c0007	a0002c0003t0002 a0006c0007t0017 a0002c0003t0002 a0006c0007t0017	a0002c0003t0002g0102 a0006c0007t0017g0011 a0002c0003t0002g0102 a0006c0007t0017g0011	2	117	0.0171	50	c.468 others(69): Show c.468+48464_468+48465insTTATATAATATATATATATTATATAA TATATAATATATATATATTATATA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140104396	T T	TATATAAT others(43): Show TATATAATATATATATATTATATATTATATAATATATATATATTATATAT A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01243.hp2 others(4): Show HG00735.hp2 HG01069.hp1 HG01243.hp2 HG01496.hp1 HG02258.hp1 HG02896.hp1 HG02965.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0009	a0001c0002 a0001c0011 a0006c0007 others(3): Show a0001c0002 a0001c0011 a0006c0007 a0006c0014 a0007c0009 a0009c0028	a0001c0002t0005 a0001c0011t0001 a0001c0011t0002 others(4): Show a0001c0002t0005 a0001c0011t0001 a0001c0011t0002 a0006c0007t0014 a0006c0014t0013 a0007c0009t0014 a0009c0028t0001	a0001c0002t0005g0039 a0001c0011t0001g0099 a0001c0011t0002g0013 others(4): Show a0001c0002t0005g0039 a0001c0011t0001g0099 a0001c0011t0002g0013 a0006c0007t0014g0139 a0006c0014t0013g0138 a0007c0009t0014g0143 a0009c0028t0001g0056	7	126	0.0556	50	c.468 others(69): Show c.468+48463_468+48464insTATATATAATATATATATATTATATA ATATATAATATATATATATTATAT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140104408	A A	ATATATTA others(43): Show ATATATTATATATTATATAATATATTATATAATATATATATATTATATAT T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00735.hp1 others(16): Show HG00140.hp2 HG00408.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01192.hp2 HG01515.hp1 HG02135.hp2 HG02148.hp1 HG02257.hp1 HG02698.hp2 HG03017.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03710.hp2 NA20300.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0003c0024 a0004c0005 a0005c0013	a0001c0001t0001 a0001c0001t0018 a0001c0001t0028 others(12): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0028 a0001c0001t0039 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0004t0001 a0001c0004t0002 a0001c0004t0019 a0001c0004t0024 a0003c0024t0038 a0004c0005t0002 a0004c0005t0007 a0005c0013t0037	a0001c0001t0001g0103 a0001c0001t0018g0111 a0001c0001t0018g0114 others(16): Show a0001c0001t0001g0103 a0001c0001t0018g0111 a0001c0001t0018g0114 a0001c0001t0028g0046 a0001c0001t0039g0116 a0001c0002t0002g0065 a0001c0002t0003g0104 a0001c0002t0009g0136 a0001c0004t0001g0023 a0001c0004t0001g0040 a0001c0004t0001g0041 a0001c0004t0002g0026 a0001c0004t0002g0047 a0001c0004t0019g0112 a0001c0004t0024g0001 a0003c0024t0038g0113 a0004c0005t0002g0052 a0004c0005t0007g0028 a0005c0013t0037g0117	19	124	0.1532	50	c.468 others(69): Show c.468+48451_468+48452insAATATATAATATATATATATTATATA ATATATTATATAATATATAATATA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAMLD1_chrX_150358317_150519173	150403945	A A	AAAGAAAG others(43): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGA G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0110 a0001c0001t0004g0110	1	224	0.0045	50	c.-64 others(69): Show c.-64+40461_-64+40462insAGAGAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAA	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAN1B1_chr9_137081985_137114183	137092388	C C	CATTGAGG others(43): Show CATTGAGGGTTAGGGGCTGGATTGGTATTTGGATACACACGTGTGTACGT A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03471.hp1 NA18978.hp2 others(1): Show HG03225.hp2 HG03471.hp1 NA18978.hp2 NA19084.hp1	a0006 a0016 a0017 a0006 a0016 a0017	a0006c0011 a0016c0028 a0017c0027 a0006c0011 a0016c0028 a0017c0027	a0006c0011t0002 a0016c0028t0002 a0017c0027t0002 a0006c0011t0002 a0016c0028t0002 a0017c0027t0002	a0006c0011t0002g0039 a0016c0028t0002g0129 a0017c0027t0002g0225 a0006c0011t0002g0039 a0016c0028t0002g0129 a0017c0027t0002g0225	4	404	0.0099	50	c.465 others(67): Show c.465+3409_465+3458dupATTTGGATACACACGTGTGTACGTAATT GAGGGTTAGGGGCTGGATTGGT	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAP2K1_chr15_66381912_66496544	66420717	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp2 NA19006.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0307 a0001c0001t0004g0047 a0001c0001t0001g0307 a0001c0001t0004g0047	2	368	0.0054	50	c.81- others(67): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT ATATATATATATATATGTATAT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar

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