Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MAML2_chr11_95971598_96348195	96155509	A A	AATACATA others(11): Show AATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0149 a0001c0002t0003g0150	2	230	0.0087	18	c.514 others(37): Show c.514-61993_514-61992insATATATATATATATGTAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96155509	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01258.hp1 HG02895.hp1 others(2): Show HG00558.hp1 HG01258.hp1 HG02895.hp1 NA18971.hp2 NA21309.hp1	a0001 a0005 a0011 a0001 a0005 a0011	a0001c0001 a0001c0002 a0005c0007 others(1): Show a0001c0001 a0001c0002 a0005c0007 a0011c0015	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0005c0007t0005 a0011c0015t0002	a0001c0001t0001g0180 a0001c0002t0002g0053 a0001c0002t0005g0042 others(2): Show a0001c0001t0001g0180 a0001c0002t0002g0053 a0001c0002t0005g0042 a0005c0007t0005g0005 a0011c0015t0002g0046	5	230	0.0217	18	c.514 others(37): Show c.514-62010_514-61993dupATATATATATATATATAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96155551	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	230	0.0044	18	c.514 others(37): Show c.514-62035_514-62034insTTATATATATATATATAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96159404	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01975.hp1 HG01192.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0148 a0001c0002t0002g0011 a0001c0001t0001g0148 a0001c0002t0002g0011	2	230	0.0087	18	c.514 others(37): Show c.514-65888_514-65887insAAAAAAAAAAAAAAAAAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96240557	C C	CAACAAAA others(11): Show CAACAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG01169.hp2 others(3): Show HG00099.hp1 HG00558.hp2 HG01169.hp2 NA18994.hp2 NA19072.hp2 NA19074.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0014 a0001c0001 a0001c0002 a0010c0014	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0010c0014t0010	a0001c0001t0003g0157 a0001c0002t0001g0111 a0001c0002t0001g0116 others(3): Show a0001c0001t0003g0157 a0001c0002t0001g0111 a0001c0002t0001g0116 a0001c0002t0001g0151 a0001c0002t0002g0055 a0010c0014t0010g0030	6	230	0.0261	18	c.513 others(39): Show c.513+100825_513+100826insTTTTTTTTTTTTTTTGTT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96299056	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	230	0.0044	18	c.513 others(37): Show c.513+42326_513+42327insATATATATATATATATAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96299058	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01123.hp1 HG01952.hp2 others(4): Show HG00558.hp2 HG01123.hp1 HG01952.hp2 HG04199.hp2 NA18968.hp2 NA18983.hp2 NA19009.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0040 a0003c0004t0006	a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0002g0082 others(4): Show a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0002g0082 a0001c0002t0001g0218 a0001c0002t0002g0055 a0001c0002t0040g0214 a0003c0004t0006g0212	7	230	0.0304	18	c.513 others(37): Show c.513+42324_513+42325insATATATATATATATATAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96299060	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0042 a0001c0002t0005g0042	1	230	0.0044	18	c.513 others(37): Show c.513+42322_513+42323insATATATATATATATATTT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96299060	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01069.hp1 others(1): Show HG00140.hp1 HG00639.hp2 HG01069.hp1 NA18991.hp2	a0001 a0004 a0016 a0001 a0004 a0016	a0001c0001 a0001c0002 a0004c0008 others(1): Show a0001c0001 a0001c0002 a0004c0008 a0016c0023	a0001c0001t0003 a0001c0002t0001 a0004c0008t0001 others(1): Show a0001c0001t0003 a0001c0002t0001 a0004c0008t0001 a0016c0023t0006	a0001c0001t0003g0219 a0001c0002t0001g0188 a0004c0008t0001g0205 others(1): Show a0001c0001t0003g0219 a0001c0002t0001g0188 a0004c0008t0001g0205 a0016c0023t0006g0206	4	230	0.0174	18	c.513 others(37): Show c.513+42305_513+42322dupATATATATATATATATAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML3_chr4_139711753_140159184	139781508	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0047 a0005c0007t0047	a0005c0007t0047g0152 a0005c0007t0047g0152	1	152	0.0066	18	c.208 others(39): Show c.2080-50859_2080-50842dupATATATATATATATATAT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139814025	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0043 a0001c0004t0002g0062 a0001c0004t0002g0043 a0001c0004t0002g0062	2	152	0.0132	18	c.207 others(39): Show c.2079+75314_2079+75331dupGTGTGTGTGTGTGTGTGT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139832094	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0112 a0001c0004t0019g0112	1	152	0.0066	18	c.207 others(39): Show c.2079+57245_2079+57262dupAAAAAAAAAAAAAAAAAA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139885932	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03239.hp1 HG03239.hp2 others(3): Show HG01515.hp2 HG03239.hp1 HG03239.hp2 HG03492.hp1 NA18968.hp1 NA19065.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0033 a0004c0006t0008	a0001c0001t0001g0028 a0001c0001t0001g0102 a0001c0001t0007g0091 others(3): Show a0001c0001t0001g0028 a0001c0001t0001g0102 a0001c0001t0007g0091 a0001c0001t0009g0132 a0001c0001t0033g0033 a0004c0006t0008g0127	6	152	0.0395	18	c.207 others(37): Show c.2079+3407_2079+3424dupTTTTTTTTTTTTTTTTTT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139896607	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03098.hp2 HG02970.hp2 HG03098.hp2	a0003 a0005 a0003 a0005	a0003c0005 a0005c0007 a0003c0005 a0005c0007	a0003c0005t0027 a0005c0007t0017 a0003c0005t0027 a0005c0007t0017	a0003c0005t0027g0004 a0005c0007t0017g0011 a0003c0005t0027g0004 a0005c0007t0017g0011	2	152	0.0132	18	c.469 others(35): Show c.469-5658_469-5641dupACACACACACACACACAC	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139934276	G G	GGACTATG others(11): Show GGACTATGGGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0027 a0003c0005t0027	a0003c0005t0027g0004 a0003c0005t0027g0004	1	152	0.0066	18	c.469 others(37): Show c.469-43327_469-43310dupGCACACACACCCATAGTC	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139943864	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp2 HG01361.hp2 others(3): Show HG00735.hp1 HG01243.hp2 HG01361.hp2 HG02257.hp2 HG02698.hp2 NA18968.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0010	a0001c0001 a0001c0010 a0002c0003 others(3): Show a0001c0001 a0001c0010 a0002c0003 a0005c0007 a0006c0008 a0010c0024	a0001c0001t0028 a0001c0010t0001 a0002c0003t0032 others(3): Show a0001c0001t0028 a0001c0010t0001 a0002c0003t0032 a0005c0007t0014 a0006c0008t0001 a0010c0024t0038	a0001c0001t0028g0061 a0001c0010t0001g0055 a0002c0003t0032g0048 others(3): Show a0001c0001t0028g0061 a0001c0010t0001g0055 a0002c0003t0032g0048 a0005c0007t0014g0139 a0006c0008t0001g0049 a0010c0024t0038g0113	6	152	0.0395	18	c.469 others(37): Show c.469-52915_469-52898dupAAAAAAAAAAAAAAAAAA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139996686	C C	CATGTGTG others(11): Show CATGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0004 a0004c0012t0004	a0004c0012t0004g0030 a0004c0012t0004g0030	1	152	0.0066	18	c.469 others(39): Show c.469-105720_469-105719insACACACACACACACACAT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140011233	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01070.hp2 HG02135.hp1 others(8): Show HG00408.hp1 HG01070.hp2 HG02135.hp1 HG02698.hp2 HG03491.hp2 HG03492.hp2 NA18939.hp2 NA18968.hp2 NA18991.hp1 NA19065.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0015	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0004c0006 a0015c0025	a0001c0001t0018 a0001c0001t0028 a0001c0001t0033 others(7): Show a0001c0001t0018 a0001c0001t0028 a0001c0001t0033 a0001c0002t0001 a0001c0004t0002 a0002c0003t0001 a0002c0003t0006 a0002c0003t0032 a0004c0006t0004 a0015c0025t0003	a0001c0001t0018g0111 a0001c0001t0028g0061 a0001c0001t0033g0033 others(8): Show a0001c0001t0018g0111 a0001c0001t0028g0061 a0001c0001t0033g0033 a0001c0002t0001g0020 a0001c0004t0002g0043 a0001c0004t0002g0062 a0002c0003t0001g0074 a0002c0003t0006g0137 a0002c0003t0032g0048 a0004c0006t0004g0078 a0015c0025t0003g0021	11	152	0.0724	18	c.469 others(39): Show c.469-120284_469-120267dupATATATATATATATATAT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140060365	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01071.hp2 others(20): Show HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01361.hp2 HG01515.hp2 HG01891.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02486.hp2 HG02523.hp2 HG03098.hp2 HG03491.hp2 HG03492.hp1 HG04228.hp2 NA18963.hp1 NA18963.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010	a0001c0001 a0001c0004 a0001c0010 others(8): Show a0001c0001 a0001c0004 a0001c0010 a0002c0003 a0003c0005 a0004c0006 a0005c0007 a0006c0008 a0007c0009 a0008c0013 a0010c0024	a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 others(17): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0010t0011 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0003c0005t0001 a0003c0005t0002 a0004c0006t0004 a0004c0006t0008 a0005c0007t0017 a0006c0008t0001 a0006c0008t0002 a0007c0009t0036 a0008c0013t0037 a0010c0024t0038	a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0007g0072 others(20): Show a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0007g0072 a0001c0001t0021g0134 a0001c0001t0021g0135 a0001c0004t0001g0017 a0001c0004t0001g0108 a0001c0004t0002g0043 a0001c0004t0003g0029 a0001c0010t0011g0057 a0002c0003t0001g0070 a0002c0003t0002g0101 a0002c0003t0003g0089 a0003c0005t0001g0066 a0003c0005t0002g0067 a0004c0006t0004g0078 a0004c0006t0008g0127 a0005c0007t0017g0011 a0006c0008t0001g0049 a0006c0008t0002g0044 a0007c0009t0036g0110 a0008c0013t0037g0117 a0010c0024t0038g0113	23	152	0.1513	18	c.468 others(37): Show c.468+92477_468+92494dupTTTTTTTTTTTTTTTTTT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAMLD1_chrX_150358317_150519173	150365524	C C	CCTTTCCT others(11): Show CCTTTCCTTGGTTTCGCTT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	226	0.0044	18	c.-64 others(35): Show c.-64+1995_-64+2012dupCTTTCCTTGGTTTCGCTT	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150394129	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02257.hp1 HG02630.hp1 others(5): Show HG01515.hp1 HG02257.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG02976.hp1 HG03098.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0015 a0001c0001t0001g0124 a0001c0001t0001g0201 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0124 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0004g0112 a0002c0002t0001g0039 a0002c0002t0001g0207	8	226	0.0354	18	c.-64 others(37): Show c.-64+30607_-64+30624dupTTTTTTTTTTTTTTTTTT	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150398252	G G	GAGAAGAA others(11): Show GAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19057.hp2 NA19060.hp1 HG02486.hp1 NA19057.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0002g0091 a0001c0001t0002g0146 a0001c0001t0001g0044 a0001c0001t0002g0091 a0001c0001t0002g0146	3	226	0.0133	18	c.-64 others(37): Show c.-64+34795_-64+34812dupAGAAGAAGAAGAAGAAGA	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150403968	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03041.hp1 HG03486.hp2 others(2): Show HG02622.hp1 HG03041.hp1 HG03486.hp2 HG03704.hp2 NA20129.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0011 a0001c0001 a0002c0002 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 a0006c0011t0002	a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0002g0158 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0002g0158 a0002c0002t0005g0140 a0006c0011t0002g0014	5	226	0.0221	18	c.-64 others(37): Show c.-64+40440_-64+40457dupAAGAAAGAAAGAAAGAAA	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150512770	T T	TGCTTCTG others(11): Show TGCTTCTGCCGTTGCTGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0122 a0001c0001t0014g0122	1	226	0.0044	18	c.81 others(27): Show c.812_*829dupGCTTCTGCCGTTGCTGCC	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	8/8	2787	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAN1A1_chr6_119172205_119354761	119242130	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG02615.hp1 others(5): Show HG01243.hp2 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02723.hp1 HG02970.hp2 HG03486.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0008 a0001c0002 a0004c0008	a0001c0002t0002 a0004c0008t0002 a0001c0002t0002 a0004c0008t0002	a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0164 others(5): Show a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0174 a0001c0002t0002g0347 a0001c0002t0002g0348 a0004c0008t0002g0310	8	350	0.0229	18	c.992 others(35): Show c.992+6129_992+6130insGTGTGTGTGTGTGTGTGT	MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	6/12			chr6	TogoVar
MAN1A1_chr6_119172205_119354761	119242134	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00733.hp2 others(41): Show HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01516.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01981.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02258.hp2 HG02293.hp2 HG02523.hp2 HG02602.hp1 HG02698.hp2 HG02922.hp2 HG03239.hp2 HG03704.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18939.hp1 NA18978.hp1 NA19030.hp1 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0029 a0001c0001t0038 a0001c0002t0002 a0001c0002t0030 a0001c0013t0016	a0001c0001t0001g0161 a0001c0001t0001g0284 a0001c0001t0001g0286 others(41): Show a0001c0001t0001g0161 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0303 a0001c0001t0001g0320 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0002g0122 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0327 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0339 a0001c0001t0003g0285 a0001c0001t0003g0305 a0001c0001t0003g0319 a0001c0001t0003g0323 a0001c0001t0003g0325 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0004g0062 a0001c0001t0015g0306 a0001c0001t0015g0307 a0001c0001t0015g0308 a0001c0001t0029g0334 a0001c0001t0038g0287 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0335 a0001c0002t0002g0340 a0001c0002t0030g0321 a0001c0013t0016g0345	44	350	0.1257	18	c.992 others(35): Show c.992+6125_992+6126insGTGTGTGTGTGTGTGTGT	MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	6/12			chr6	TogoVar
MAN1A1_chr6_119172205_119354761	119242134	G G	GACAGACA others(11): Show GACAGACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	350	0.0029	18	c.992 others(35): Show c.992+6125_992+6126insGTGTGTGTGTGTGTCTGT	MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	6/12			chr6	TogoVar
MAN1A1_chr6_119172205_119354761	119331570	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0306 a0001c0001t0015g0306	1	350	0.0029	18	c.603 others(37): Show c.603+16875_603+16892dupATATATATATATATATAT	MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	2/12			chr6	TogoVar
MAN1A2_chr1_117362449_117533872	117367316	G G	GGAGGAGG others(11): Show GGAGGAGGAGGAGGAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG01928.hp1 others(2): Show HG00558.hp2 HG00597.hp1 HG01928.hp1 NA18948.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0045 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0045 a0001c0001t0121	a0001c0001t0001g0134 a0001c0001t0004g0311 a0001c0001t0004g0312 others(2): Show a0001c0001t0001g0134 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0045g0088 a0001c0001t0121g0090	5	370	0.0135	18	c.-86 others(27): Show c.-868_-867insGAGGAGGAGGAGGAGGAA	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding		132		chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117370738	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA19078.hp2 NA18968.hp1 NA19078.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0117 a0001c0003t0118 a0001c0003t0117 a0001c0003t0118	a0001c0003t0117g0106 a0001c0003t0118g0105 a0001c0003t0117g0106 a0001c0003t0118g0105	2	370	0.0054	18	c.302 others(35): Show c.302+2266_302+2283dupGTGTGTGTGTGTGTGTGT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117417534	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01943.hp2 HG01978.hp2 others(17): Show HG01515.hp1 HG01943.hp2 HG01978.hp2 HG02080.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp2 HG03688.hp2 HG03710.hp1 NA18944.hp2 NA18948.hp2 NA18952.hp2 NA18955.hp1 NA18961.hp2 NA18984.hp1 NA18991.hp2 NA19065.hp1 NA19074.hp1 NA19082.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0035 a0001c0001t0048 a0001c0001t0056 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0161 a0001c0001t0165 a0001c0001t0187 a0001c0001t0188 a0001c0001t0213	a0001c0001t0001g0113 a0001c0001t0001g0146 a0001c0001t0002g0133 others(17): Show a0001c0001t0001g0113 a0001c0001t0001g0146 a0001c0001t0002g0133 a0001c0001t0002g0147 a0001c0001t0015g0129 a0001c0001t0017g0246 a0001c0001t0022g0209 a0001c0001t0035g0196 a0001c0001t0048g0056 a0001c0001t0048g0067 a0001c0001t0056g0259 a0001c0001t0154g0242 a0001c0001t0155g0263 a0001c0001t0156g0260 a0001c0001t0157g0258 a0001c0001t0161g0262 a0001c0001t0165g0245 a0001c0001t0187g0144 a0001c0001t0188g0143 a0001c0001t0213g0216	20	370	0.0541	18	c.774 others(35): Show c.774+2710_774+2727dupATATATATATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117431194	A A	AGGGAGGG others(11): Show AGGGAGGGGGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0203 a0001c0001t0023g0203	1	370	0.0027	18	c.855 others(37): Show c.855+10567_855+10584dupAGGGGGAGGGGGAGGGGG	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117445888	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0138 a0001c0001t0038g0138	1	370	0.0027	18	c.950 others(35): Show c.950+3574_950+3575insATATATGTATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117512750	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01516.hp2 HG01943.hp2 others(12): Show HG01256.hp2 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG02055.hp1 HG02145.hp2 HG02148.hp2 HG03516.hp2 HG03540.hp1 NA18522.hp1 NA18952.hp2 NA18955.hp1 NA18967.hp2 NA19003.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0056 a0001c0001t0057 others(12): Show a0001c0001t0017 a0001c0001t0056 a0001c0001t0057 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0160 a0001c0001t0161 a0001c0001t0166 a0001c0001t0168 a0001c0001t0170 a0001c0001t0171 a0001c0001t0177 a0001c0001t0182	a0001c0001t0017g0251 a0001c0001t0056g0259 a0001c0001t0057g0261 others(12): Show a0001c0001t0017g0251 a0001c0001t0056g0259 a0001c0001t0057g0261 a0001c0001t0155g0263 a0001c0001t0156g0260 a0001c0001t0157g0258 a0001c0001t0158g0244 a0001c0001t0160g0257 a0001c0001t0161g0262 a0001c0001t0166g0264 a0001c0001t0168g0243 a0001c0001t0170g0231 a0001c0001t0171g0234 a0001c0001t0177g0235 a0001c0001t0182g0229	15	370	0.0405	18	c.179 others(37): Show c.1793+9797_1793+9814dupACACACACACACACACAC	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526880	C C	CTATATAT others(11): Show CTATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18970.hp2 NA19065.hp1 NA18970.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0255 a0001c0001t0056g0259 a0001c0001t0056g0255 a0001c0001t0056g0259	2	370	0.0054	18	c.39 others(29): Show c.3935_*3952dupATATATATATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	3953	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526880	C C	CTCTATAT others(11): Show CTCTATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0027 a0001c0001t0103g0027	1	370	0.0027	18	c.39 others(29): Show c.3924_*3925insCTATATATATATATATAT	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(11): Show CTCTCTCTATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0026 a0001c0001t0096g0026	1	370	0.0027	18	c.39 others(29): Show c.3924_*3925insCTCTCTATATATATATAT	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(11): Show CTCTCTCTCTCTCTATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0175 a0001c0001t0175	a0001c0001t0175g0233 a0001c0001t0175g0233	1	370	0.0027	18	c.39 others(29): Show c.3924_*3925insCTCTCTCTCTCTATATAT	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(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp2 HG03471.hp1 others(4): Show HG02280.hp1 HG02886.hp2 HG03471.hp1 HG03540.hp1 NA18522.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0006 a0001c0001t0001 a0001c0003t0001 a0001c0003t0006	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0022 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0151 a0001c0003t0001g0242 a0001c0003t0001g0244 a0001c0003t0006g0216	7	250	0.0280	18	c.541 others(37): Show c.541-30340_541-30323dupTTTTTTTTTTTTTTTTTT	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(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01081.hp2 HG01123.hp1 others(10): Show HG00438.hp2 HG01081.hp2 HG01123.hp1 HG01975.hp1 HG02273.hp2 HG02738.hp2 HG03017.hp2 HG03239.hp1 HG03579.hp2 HG03834.hp2 NA19009.hp1 NA19064.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0008 a0001c0005t0010 a0002c0002t0002 others(3): Show a0001c0005t0008 a0001c0005t0010 a0002c0002t0002 a0002c0002t0011 a0002c0002t0023 a0002c0002t0027	a0001c0005t0008g0017 a0001c0005t0010g0015 a0001c0005t0010g0018 others(10): Show a0001c0005t0008g0017 a0001c0005t0010g0015 a0001c0005t0010g0018 a0002c0002t0002g0222 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0280 a0002c0002t0002g0283 a0002c0002t0011g0268 a0002c0002t0023g0223 a0002c0002t0027g0234	13	296	0.0439	18	c.136 others(35): Show c.136-4991_136-4974dupCACACACACACACACACA	MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAN2A1_chr5_109684927_109874625	109842806	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03017.hp1 HG02897.hp2 HG03017.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0013 a0001c0006t0006 a0001c0004t0013 a0001c0006t0006	a0001c0004t0013g0049 a0001c0006t0006g0287 a0001c0004t0013g0049 a0001c0006t0006g0287	2	296	0.0068	18	c.270 others(35): Show c.2700+362_2700+363insTTTTTTTTTTTTTTTTTT	MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAN2B1_chr19_12641512_12671742	12649477	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18948.hp1 HG02293.hp2 NA18948.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0005c0004t0001 a0001c0001t0001 a0005c0004t0001	a0001c0001t0001g0100 a0005c0004t0001g0189 a0001c0001t0001g0100 a0005c0004t0001g0189	2	380	0.0053	18	c.226 others(33): Show c.2268-67_2268-50dupAAAAAAAAAAAAAAAAAA	MAN2B1	ENSG00000104774.13	transcript	ENST00000456935.7	protein_coding	18/23			chr19	TogoVar
MANEA_chr6_95572535_95614452	95604061	G G	GGGGTGTG others(11): Show GGGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp2 NA20129.hp2 HG02055.hp2 HG02615.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0034 a0003c0003t0007g0134 a0003c0003t0007g0034 a0003c0003t0007g0134	3	410	0.0073	18	c.655 others(33): Show c.655-765_655-764insGGTGTGTGTGTGTGTGTG	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(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01346.hp1 HG01346.hp2 others(11): Show HG00621.hp2 HG01346.hp1 HG01346.hp2 HG06807.hp2 NA18953.hp2 NA18955.hp1 NA18960.hp1 NA18977.hp1 NA18979.hp1 NA18993.hp2 NA19002.hp1 NA19060.hp2 NA19078.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0001t0026	a0001c0001t0003g0066 a0001c0001t0004g0013 a0001c0001t0004g0016 others(5): Show a0001c0001t0003g0066 a0001c0001t0004g0013 a0001c0001t0004g0016 a0001c0001t0004g0123 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0017g0027 a0001c0001t0026g0065	14	410	0.0342	18	c.655 others(33): Show c.655-749_655-732dupGTGTGTGTGTGTGTGTGT	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(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01109.hp2 others(7): Show HG00140.hp1 HG00280.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01261.hp1 HG01361.hp2 HG02647.hp1 NA18947.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0010 a0001c0001 a0002c0003 a0004c0010	a0001c0001t0018 a0001c0001t0024 a0002c0003t0006 others(5): Show a0001c0001t0018 a0001c0001t0024 a0002c0003t0006 a0002c0003t0126 a0002c0003t0127 a0002c0003t0128 a0002c0003t0132 a0004c0010t0042	a0001c0001t0018g0196 a0001c0001t0018g0197 a0001c0001t0018g0198 others(7): Show a0001c0001t0018g0196 a0001c0001t0018g0197 a0001c0001t0018g0198 a0001c0001t0024g0199 a0002c0003t0006g0039 a0002c0003t0126g0044 a0002c0003t0127g0042 a0002c0003t0128g0038 a0002c0003t0132g0043 a0004c0010t0042g0052	10	322	0.0311	18	c.224 others(33): Show c.224-348_224-331dupGTGTGTGTGTGTGTGTGT	MANSC1	ENSG00000111261.14	transcript	ENST00000535902.6	protein_coding	2/3			chr12	TogoVar
MANSC1_chr12_12321056_12355242	12344916	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0257 a0001c0001t0081g0257	1	322	0.0031	18	c.-10 others(37): Show c.-100-1520_-100-1503dupATATATATATATATATAT	MANSC1	ENSG00000111261.14	transcript	ENST00000535902.6	protein_coding	1/3			chr12	TogoVar
MAOA_chrX_43651299_43751817	43655182	C C	CGCACCAG others(11): Show CGCACCAGTACCGGCACCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0182 a0001c0002t0002g0182	1	283	0.0035	18	c.-11 others(29): Show c.-1160_-1159insGCACCAGTACCGGCACCG	MAOA	ENSG00000189221.11	transcript	ENST00000338702.4	protein_coding		1116		chrX	TogoVar
MAOB_chrX_43761610_43887450	43808633	C C	CATCTATA others(11): Show CATCTATATCTATATCTAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	234	0.0043	18	c.280 others(35): Show c.280-5247_280-5230dupATAGATATAGATATAGAT	MAOB	ENSG00000069535.14	transcript	ENST00000378069.5	protein_coding	3/14			chrX	TogoVar
MAOB_chrX_43761610_43887450	43808699	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0189 a0001c0002t0002g0189	1	234	0.0043	18	c.280 others(35): Show c.280-5313_280-5296dupGTGTGTGTGTGTGTGTGT	MAOB	ENSG00000069535.14	transcript	ENST00000378069.5	protein_coding	3/14			chrX	TogoVar
MAOB_chrX_43761610_43887450	43857084	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	234	0.0043	18	c.47- others(35): Show c.47-13338_47-13321dupATATATATATATATATAT	MAOB	ENSG00000069535.14	transcript	ENST00000378069.5	protein_coding	1/14			chrX	TogoVar

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