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
MAGIX_chrX_49157758_49173774	49169081	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	260	0.0039	22	c.26 others(33): Show c.2682_*2683insAAAAAAAAAAAAAAAAAAAAAA	MAGIX	ENSG00000269313.6	transcript	ENST00000595224.6	protein_coding		308		chrX	TogoVar
MAJIN_chr11_64933230_64977108	64948602	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	384	0.0026	22	c.350 others(37): Show c.350-805_350-784dupATATATATATATATATATATAT	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAK16_chr8_33480182_33506262	33481617	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 NA19090.hp2 HG04184.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0028 a0002c0002t0005 a0002c0002t0028	a0002c0002t0005g0118 a0002c0002t0028g0138 a0002c0002t0005g0118 a0002c0002t0028g0138	2	400	0.0050	22	c.-35 others(33): Show c.-3590_-3589insGTGTGTGTGTGTGTGTGTGTGT	MAK16	ENSG00000198042.11	transcript	ENST00000360128.11	protein_coding		3564		chr8	TogoVar
MAK_chr6_10757723_10843539	10815911	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	272	0.0037	22	c.278 others(39): Show c.278+1938_278+1939insATATATATATATATATATATAT	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	4/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10815912	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02080.hp1 HG02074.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0173 a0001c0001t0001g0174	2	272	0.0074	22	c.278 others(39): Show c.278+1937_278+1938insTATATATATATATATATACACA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	4/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10815912	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0188 a0001c0002t0003g0188	1	272	0.0037	22	c.278 others(39): Show c.278+1937_278+1938insTATATATATATATATACACACA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	4/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10815912	G G	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0203 a0001c0002t0005g0203	1	272	0.0037	22	c.278 others(39): Show c.278+1937_278+1938insTATATATATATATACACACACA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	4/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10815945	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG03540.hp2 HG01243.hp1 HG01361.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0006 a0001c0001t0002 a0001c0004t0006	a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0004t0006g0198 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0004t0006g0198	3	272	0.0110	22	c.278 others(39): Show c.278+1904_278+1905insTTATATATATATATATATATAT	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	4/14			chr6	TogoVar
MALRD1_chr10_19043801_19739478	19165242	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03540.hp1 NA18971.hp1 others(1): Show HG03486.hp1 HG03540.hp1 NA18971.hp1 NA19091.hp2	a0012 a0024 a0028 others(1): Show a0012 a0024 a0028 a0080	a0012c0063 a0024c0115 a0028c0112 others(1): Show a0012c0063 a0024c0115 a0028c0112 a0080c0043	a0012c0063t0001 a0024c0115t0001 a0028c0112t0001 others(1): Show a0012c0063t0001 a0024c0115t0001 a0028c0112t0001 a0080c0043t0002	a0012c0063t0001g0041 a0024c0115t0001g0021 a0028c0112t0001g0037 others(1): Show a0012c0063t0001g0041 a0024c0115t0001g0021 a0028c0112t0001g0037 a0080c0043t0002g0148	4	152	0.0263	22	c.165 others(39): Show c.1657-392_1657-371dupATATATATATATATATATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19165244	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0046 a0046	a0046c0057 a0046c0057	a0046c0057t0001 a0046c0057t0001	a0046c0057t0001g0150 a0046c0057t0001g0150	1	152	0.0066	22	c.165 others(39): Show c.1657-372_1657-371insAATATATATATATATATATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19176366	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG01993.hp1 others(2): Show HG01192.hp1 HG01192.hp2 HG01993.hp1 NA18998.hp2 NA21309.hp1	a0002 a0039 a0091 others(1): Show a0002 a0039 a0091 a0096	a0002c0002 a0039c0109 a0091c0096 others(1): Show a0002c0002 a0039c0109 a0091c0096 a0096c0087	a0002c0002t0001 a0039c0109t0002 a0091c0096t0001 others(1): Show a0002c0002t0001 a0039c0109t0002 a0091c0096t0001 a0096c0087t0003	a0002c0002t0001g0029 a0002c0002t0001g0046 a0039c0109t0002g0077 others(2): Show a0002c0002t0001g0029 a0002c0002t0001g0046 a0039c0109t0002g0077 a0091c0096t0001g0004 a0096c0087t0003g0106	5	152	0.0329	22	c.195 others(41): Show c.1951+1057_1951+1058insTTTTTTTTTTTTTTTTTTTTTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	14/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19454405	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01109.hp2 HG01358.hp1 others(6): Show HG01071.hp2 HG01109.hp2 HG01358.hp1 HG02055.hp1 HG02630.hp2 HG03098.hp2 HG03540.hp1 NA18522.hp2 NA20752.hp1	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0010 a0024 a0064 a0073 a0088	a0001c0052 a0003c0020 a0005c0008 others(5): Show a0001c0052 a0003c0020 a0005c0008 a0010c0029 a0024c0115 a0064c0036 a0073c0044 a0088c0122	a0001c0052t0001 a0003c0020t0001 a0005c0008t0001 others(5): Show a0001c0052t0001 a0003c0020t0001 a0005c0008t0001 a0010c0029t0001 a0024c0115t0001 a0064c0036t0001 a0073c0044t0002 a0088c0122t0001	a0001c0052t0001g0116 a0003c0020t0001g0053 a0005c0008t0001g0031 others(6): Show a0001c0052t0001g0116 a0003c0020t0001g0053 a0005c0008t0001g0031 a0005c0008t0001g0061 a0010c0029t0001g0097 a0024c0115t0001g0021 a0064c0036t0001g0006 a0073c0044t0002g0084 a0088c0122t0001g0024	9	152	0.0592	22	c.502 others(41): Show c.5029+3921_5029+3942dupTATATATATATATATATATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	29/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19719206	A A	ATACACAT others(15): Show ATACACATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0050 a0050	a0050c0103 a0050c0103	a0050c0103t0001 a0050c0103t0001	a0050c0103t0001g0007 a0050c0103t0001g0007	1	152	0.0066	22	c.631 others(43): Show c.6315-11498_6315-11497insCACATATATATATATATGTGTA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19719229	T T	TATATATA others(15): Show TATATATATATATACATACATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0080 a0080	a0080c0043 a0080c0043	a0080c0043t0002 a0080c0043t0002	a0080c0043t0002g0148 a0080c0043t0002g0148	1	152	0.0066	22	c.631 others(43): Show c.6315-11464_6315-11463insCATACATACATATATATATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19722590	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0038 a0038	a0038c0107 a0038c0107	a0038c0107t0002 a0038c0107t0002	a0038c0107t0002g0020 a0038c0107t0002g0020	1	152	0.0066	22	c.631 others(41): Show c.6315-8108_6315-8087dupAAAAAAAAAAAAAAAAAAAAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALT1_chr18_58666465_58759477	58692407	C C	CCTCTCTC others(15): Show CCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0038 a0001c0001t0015g0038	1	406	0.0025	22	c.377 others(39): Show c.377-3951_377-3930dupTCTCTCTCTCTCTCTCTCTCTC	MALT1	ENSG00000172175.16	transcript	ENST00000649217.2	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
MALT1_chr18_58666465_58759477	58732755	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18612.hp2 NA18971.hp1 HG04184.hp2 NA18612.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0029 a0001c0001t0004g0036 a0001c0001t0004g0019 a0001c0001t0004g0029 a0001c0001t0004g0036	3	406	0.0074	22	c.122 others(39): Show c.1223-640_1223-639insTATATATATATATATATATATA	MALT1	ENSG00000172175.16	transcript	ENST00000649217.2	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
MAMDC2_chr9_70038848_70231972	70118297	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	340	0.0029	22	c.643 others(39): Show c.643+5195_643+5216dupCACACACACACACACACACACA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(15): Show TATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	340	0.0029	22	c.191 others(41): Show c.1911+2785_1911+2786insTATATAGAGAGAGAGAGAGAGA	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(15): Show TATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0131 a0002c0002t0002g0131	1	340	0.0029	22	c.191 others(41): Show c.1911+2785_1911+2786insTATATATATATATAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAML2_chr11_95971598_96348195	96034432	T T	TGTGTGTG others(15): Show TGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0185 a0002c0003t0008g0185	1	230	0.0044	22	c.214 others(43): Show c.2140-42710_2140-42709insTCTCTCTCTCTCTCACACACAC	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96068438	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	230	0.0044	22	c.213 others(43): Show c.2139+23432_2139+23453dupTGTGTGTGTGTGTGTGTGTGTG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96121780	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01071.hp2 HG01123.hp1 others(7): Show HG00597.hp2 HG01071.hp2 HG01123.hp1 HG01256.hp1 HG01952.hp2 HG02132.hp2 HG03486.hp2 NA18906.hp1 NA19003.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0025	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0002t0001 a0001c0002t0004 a0001c0002t0021 a0001c0004t0006 a0001c0006t0010 a0001c0025t0002	a0001c0001t0002g0062 a0001c0001t0003g0136 a0001c0001t0015g0191 others(7): Show a0001c0001t0002g0062 a0001c0001t0003g0136 a0001c0001t0015g0191 a0001c0002t0001g0218 a0001c0002t0004g0192 a0001c0002t0021g0226 a0001c0002t0021g0229 a0001c0004t0006g0212 a0001c0006t0010g0013 a0001c0025t0002g0052	10	230	0.0435	22	c.514 others(41): Show c.514-28285_514-28264dupAAAAAAAAAAAAAAAAAAAAAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96155509	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02145.hp1 HG01261.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0045 a0001c0001t0003 a0001c0001t0045	a0001c0001t0003g0168 a0001c0001t0045g0224 a0001c0001t0003g0168 a0001c0001t0045g0224	2	230	0.0087	22	c.514 others(41): Show c.514-62014_514-61993dupATATATATATATATATATATAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96159404	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	230	0.0044	22	c.514 others(41): Show c.514-65888_514-65887insAAAAAAAAAAAAAAAAAAAAAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96240557	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0184 a0001c0001t0004g0184	1	230	0.0044	22	c.513 others(43): Show c.513+100804_513+100825dupTTTTTTTTTTTTTTTTTTTTTT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96240557	C C	CAACAAAA others(15): Show CAACAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03017.hp1 NA20752.hp1 HG01123.hp1 HG03017.hp1 NA20752.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0001c0004 a0007c0014 a0001c0002 a0001c0004 a0007c0014	a0001c0002t0002 a0001c0004t0006 a0007c0014t0006 a0001c0002t0002 a0001c0004t0006 a0007c0014t0006	a0001c0002t0002g0061 a0001c0004t0006g0212 a0007c0014t0006g0166 a0001c0002t0002g0061 a0001c0004t0006g0212 a0007c0014t0006g0166	3	230	0.0130	22	c.513 others(43): Show c.513+100825_513+100826insTTTTTTTTTTTTTTTTTTTGTT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96299058	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02895.hp1 NA18612.hp1 others(1): Show HG00408.hp1 HG02895.hp1 NA18612.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0004t0046	a0001c0001t0001g0180 a0001c0001t0003g0209 a0001c0002t0003g0211 others(1): Show a0001c0001t0001g0180 a0001c0001t0003g0209 a0001c0002t0003g0211 a0001c0004t0046g0227	4	230	0.0174	22	c.513 others(41): Show c.513+42324_513+42325insATATATATATATATATATATAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96299060	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0143 a0001c0019t0001g0143	1	230	0.0044	22	c.513 others(41): Show c.513+42322_513+42323insATATATATATATATATATATAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML3_chr4_139711753_140159184	139781508	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	152	0.0066	22	c.208 others(43): Show c.2080-50863_2080-50842dupATATATATATATATATATATAT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139790216	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0065 a0001c0027t0001g0065	1	152	0.0066	22	c.208 others(43): Show c.2080-59571_2080-59550dupATATATATATATATATATATAT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139861477	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG02723.hp2 HG02970.hp2	a0001 a0004 a0001 a0004	a0001c0010 a0004c0005 a0001c0010 a0004c0005	a0001c0010t0013 a0004c0005t0027 a0001c0010t0013 a0004c0005t0027	a0001c0010t0013g0142 a0004c0005t0027g0004 a0001c0010t0013g0142 a0004c0005t0027g0004	2	152	0.0132	22	c.207 others(43): Show c.2079+27858_2079+27879dupCACACACACACACACACACACA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139896607	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01496.hp2 HG02135.hp2 others(14): Show HG01069.hp1 HG01496.hp2 HG02135.hp2 HG02280.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp1 HG03942.hp1 HG06807.hp1 NA18522.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0010 a0012	a0001c0004 a0001c0011 a0002c0003 others(8): Show a0001c0004 a0001c0011 a0002c0003 a0004c0005 a0005c0008 a0005c0013 a0006c0007 a0006c0014 a0007c0009 a0010c0017 a0012c0026	a0001c0004t0001 a0001c0011t0001 a0001c0011t0005 others(14): Show a0001c0004t0001 a0001c0011t0001 a0001c0011t0005 a0002c0003t0046 a0004c0005t0001 a0004c0005t0002 a0004c0005t0015 a0004c0005t0017 a0005c0008t0002 a0005c0008t0009 a0005c0013t0004 a0006c0007t0013 a0006c0007t0034 a0006c0014t0013 a0007c0009t0023 a0010c0017t0012 a0012c0026t0041	a0001c0004t0001g0032 a0001c0011t0001g0103 a0001c0011t0005g0019 others(14): Show a0001c0004t0001g0032 a0001c0011t0001g0103 a0001c0011t0005g0019 a0002c0003t0046g0149 a0004c0005t0001g0053 a0004c0005t0002g0067 a0004c0005t0015g0008 a0004c0005t0017g0106 a0005c0008t0002g0095 a0005c0008t0009g0128 a0005c0013t0004g0056 a0006c0007t0013g0146 a0006c0007t0034g0084 a0006c0014t0013g0138 a0007c0009t0023g0141 a0010c0017t0012g0085 a0012c0026t0041g0125	17	152	0.1118	22	c.469 others(39): Show c.469-5662_469-5641dupACACACACACACACACACACAC	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139943864	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0137 a0002c0003t0006g0137	1	152	0.0066	22	c.469 others(41): Show c.469-52919_469-52898dupAAAAAAAAAAAAAAAAAAAAAA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140011233	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18966.hp1 HG02523.hp1 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0020 a0002c0003t0003 a0001c0001t0020 a0002c0003t0003	a0001c0001t0020g0126 a0002c0003t0003g0046 a0001c0001t0020g0126 a0002c0003t0003g0046	2	152	0.0132	22	c.469 others(43): Show c.469-120267_469-120266insATATATATATATATATATATAT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140092076	G G	GTATATAT others(15): Show GTATATATATACGTATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0002 a0001c0023t0002	a0001c0023t0002g0075 a0001c0023t0002g0075	1	152	0.0066	22	c.468 others(41): Show c.468+60762_468+60783dupTATATATATACGTATATATATA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140092088	G G	GTATATAT others(15): Show GTATATATATATATATATACGTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0012 a0010c0017t0012	a0010c0017t0012g0085 a0010c0017t0012g0085	1	152	0.0066	22	c.468 others(41): Show c.468+60771_468+60772insTACGTATATATATATATATATA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAMLD1_chrX_150358317_150519173	150394129	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02602.hp1 HG06807.hp2 others(2): Show HG01255.hp1 HG02602.hp1 HG06807.hp2 NA18906.hp1 NA19083.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0007 a0001c0001 a0009c0007	a0001c0001t0001 a0001c0001t0002 a0009c0007t0002 a0001c0001t0001 a0001c0001t0002 a0009c0007t0002	a0001c0001t0001g0067 a0001c0001t0001g0099 a0001c0001t0001g0202 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0099 a0001c0001t0001g0202 a0001c0001t0002g0072 a0009c0007t0002g0037	5	226	0.0221	22	c.-64 others(41): Show c.-64+30603_-64+30624dupTTTTTTTTTTTTTTTTTTTTTT	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAN1A2_chr1_117362449_117533872	117417534	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG00741.hp1 others(14): Show HG00597.hp2 HG00639.hp1 HG00741.hp1 HG01257.hp2 HG02109.hp1 HG02896.hp1 HG03195.hp1 HG03471.hp1 NA18949.hp2 NA18968.hp1 NA18970.hp2 NA18993.hp2 NA19003.hp2 NA19010.hp1 NA19074.hp2 NA19082.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0016 a0001c0001t0038 a0001c0001t0049 others(12): Show a0001c0001t0016 a0001c0001t0038 a0001c0001t0049 a0001c0001t0053 a0001c0001t0056 a0001c0001t0134 a0001c0001t0138 a0001c0001t0141 a0001c0001t0145 a0001c0001t0158 a0001c0001t0162 a0001c0001t0169 a0001c0002t0108 a0001c0003t0118 a0002c0006t0099	a0001c0001t0016g0016 a0001c0001t0016g0017 a0001c0001t0038g0155 others(14): Show a0001c0001t0016g0016 a0001c0001t0016g0017 a0001c0001t0038g0155 a0001c0001t0049g0072 a0001c0001t0053g0076 a0001c0001t0053g0082 a0001c0001t0056g0255 a0001c0001t0134g0081 a0001c0001t0138g0068 a0001c0001t0141g0021 a0001c0001t0145g0218 a0001c0001t0158g0244 a0001c0001t0162g0256 a0001c0001t0169g0248 a0001c0002t0108g0055 a0001c0003t0118g0105 a0002c0006t0099g0013	17	370	0.0460	22	c.774 others(39): Show c.774+2706_774+2727dupATATATATATATATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117512750	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01978.hp1 HG02293.hp2 HG01928.hp2 HG01978.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0164 a0001c0001t0178 a0001c0001t0017 a0001c0001t0164 a0001c0001t0178	a0001c0001t0017g0232 a0001c0001t0164g0236 a0001c0001t0178g0237 a0001c0001t0017g0232 a0001c0001t0164g0236 a0001c0001t0178g0237	3	370	0.0081	22	c.179 others(41): Show c.1793+9793_1793+9814dupACACACACACACACACACACAC	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526876	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0155 a0001c0001t0155	a0001c0001t0155g0263 a0001c0001t0155g0263	1	370	0.0027	22	c.39 others(33): Show c.3920_*3921insATATATATATATATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	3921	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526880	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0161 a0001c0001t0161	a0001c0001t0161g0262 a0001c0001t0161g0262	1	370	0.0027	22	c.39 others(33): Show c.3931_*3952dupATATATATATATATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	3953	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526880	C C	CTCTCTAT others(15): Show CTCTCTATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0183 a0001c0001t0183	a0001c0001t0183g0254 a0001c0001t0183g0254	1	370	0.0027	22	c.39 others(33): Show c.3924_*3925insCTCTATATATATATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	3925	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526880	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0150 a0001c0001t0150	a0001c0001t0150g0265 a0001c0001t0150g0265	1	370	0.0027	22	c.39 others(33): Show c.3924_*3925insCTCTCTCTCTATATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	3925	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1C1_chr1_25611791_25789450	25656095	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02895.hp2 HG01071.hp1 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0232 a0001c0003t0001g0231 a0001c0002t0001g0232 a0001c0003t0001g0231	2	250	0.0080	22	c.541 others(41): Show c.541-30344_541-30323dupTTTTTTTTTTTTTTTTTTTTTT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2A1_chr5_109684927_109874625	109708509	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02129.hp2 HG02148.hp2 others(11): Show HG02027.hp2 HG02129.hp2 HG02148.hp2 HG02523.hp2 HG02647.hp2 HG03669.hp1 NA18952.hp2 NA18955.hp1 NA18961.hp1 NA18969.hp1 NA18982.hp2 NA18983.hp1 NA19043.hp2 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0009 a0002c0002 a0001c0005 a0001c0009 a0002c0002	a0001c0005t0008 a0001c0009t0002 a0001c0009t0028 others(4): Show a0001c0005t0008 a0001c0009t0002 a0001c0009t0028 a0002c0002t0002 a0002c0002t0009 a0002c0002t0017 a0002c0002t0026	a0001c0005t0008g0009 a0001c0009t0002g0227 a0001c0009t0028g0008 others(11): Show a0001c0005t0008g0009 a0001c0009t0002g0227 a0001c0009t0028g0008 a0002c0002t0002g0203 a0002c0002t0002g0220 a0002c0002t0002g0232 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0264 a0002c0002t0009g0007 a0002c0002t0017g0276 a0002c0002t0026g0231	14	296	0.0473	22	c.136 others(39): Show c.136-4995_136-4974dupCACACACACACACACACACACA	MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAN2B1_chr19_12641512_12671742	12663566	A A	AGATGCAA others(15): Show AGATGCAATTCAGAATTGTGACC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	380	0.0026	22	c.764 others(37): Show c.764-105_764-104insGGTCACAATTCTGAATTGCATC	MAN2B1	ENSG00000104774.13	transcript	ENST00000456935.7	protein_coding	5/23			chr19	TogoVar
MANEA_chr6_95572535_95614452	95601716	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0239 a0004c0004t0005g0239	1	410	0.0024	22	c.655 others(39): Show c.655-3104_655-3083dupTTTTTTTTTTTTTTTTTTTTTT	MANEA	ENSG00000172469.17	transcript	ENST00000358812.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MANEA_chr6_95572535_95614452	95604061	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA18962.hp2 HG01257.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0084 a0001c0001t0004g0121 a0001c0001t0003g0084 a0001c0001t0004g0121	2	410	0.0049	22	c.655 others(37): Show c.655-753_655-732dupGTGTGTGTGTGTGTGTGTGTGT	MANEA	ENSG00000172469.17	transcript	ENST00000358812.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MANSC1_chr12_12321056_12355242	12338890	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18998.hp2 HG04204.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0080 a0002c0003t0042 a0001c0001t0080 a0002c0003t0042	a0001c0001t0080g0295 a0002c0003t0042g0051 a0001c0001t0080g0295 a0002c0003t0042g0051	2	322	0.0062	22	c.224 others(37): Show c.224-352_224-331dupGTGTGTGTGTGTGTGTGTGTGT	MANSC1	ENSG00000111261.14	transcript	ENST00000535902.6	protein_coding	2/3			chr12	TogoVar

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